Primary Identifier | MGI:5613166 | Allele Type | Chemically induced (ENU) |
Attribute String | Null/knockout | Gene | Tap2 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU mutagenesis induced a T to A transversion at base pair 34,212,354 (v38) on chromosome 17, or base pair 8,270 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,418 in the mRNA sequence NM_011530 within exon 7 of 12 total exons. The mutation results in a valine (V) to aspartic acid (D) substitution at position 422 (V422D), and is strongly predicted by Polyphen-2 to cause loss of function (score = 0.989). |