Tap1^m2Btlr

ENU-induced T to G transversion at base pair 34,194,941 (v38) on chromosome 17, or base pair 7,386 in the GenBank genomic region NC_000083. The mutation corresponds to residue 2,253 in the mRNA sequence NM_013683 (variant 1) within exon 10 of 11 total exons or residue 2,169 in the mRNA sequence NM_001161730 (variant 2) within exon 11 of 12 total exons. The mutation results in an aspartic acid (D) to glutamic acid (E) substitution at position 643 (D643E) in isoform 1 and a D to E substitution at position 615 (D615E) in isoform 2 of the protein. (J:236697)