Incidental Mutation 'IGL01116:Igkv4-50'
ID 51341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv4-50
Ensembl Gene ENSMUSG00000076562
Gene Name immunoglobulin kappa variable 4-50
Synonyms IgVk 4-50, LOC381782
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL01116
Quality Score
Status
Chromosome 6
Chromosomal Location 69677751-69678271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69677921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 61 (S61L)
Ref Sequence ENSEMBL: ENSMUSP00000100164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103363]
AlphaFold A0A0B4J1J0
Predicted Effect probably benign
Transcript: ENSMUST00000103363
AA Change: S61L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000100164
Gene: ENSMUSG00000076562
AA Change: S61L

DomainStartEndE-ValueType
IGv 40 111 1.02e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,849,911 (GRCm39) M951L probably benign Het
Als2 T C 1: 59,225,163 (GRCm39) probably benign Het
Arhgap26 T C 18: 39,244,856 (GRCm39) V167A probably damaging Het
Bbs1 A G 19: 4,952,867 (GRCm39) probably benign Het
Capn11 A T 17: 45,949,806 (GRCm39) probably benign Het
Cenpl G T 1: 160,910,857 (GRCm39) S268I possibly damaging Het
Coq8b T C 7: 26,939,282 (GRCm39) V144A possibly damaging Het
Exo1 T A 1: 175,728,963 (GRCm39) C10S possibly damaging Het
Fam193b A T 13: 55,691,266 (GRCm39) S203T probably damaging Het
Ggact T C 14: 123,129,167 (GRCm39) N16S probably damaging Het
Gm3940 A T 1: 52,129,882 (GRCm39) probably benign Het
Gm5458 G T 14: 19,649,760 (GRCm39) L155I probably damaging Het
Golm1 T C 13: 59,797,470 (GRCm39) K125R probably damaging Het
Gpatch4 A G 3: 87,962,312 (GRCm39) E175G probably damaging Het
Gria1 A G 11: 57,127,801 (GRCm39) N337D probably damaging Het
Gripap1 G A X: 7,678,705 (GRCm39) G464D probably benign Het
Grk1 A G 8: 13,455,404 (GRCm39) D96G possibly damaging Het
Hsf1 T C 15: 76,382,403 (GRCm39) V258A probably benign Het
Ighv7-4 A G 12: 114,186,653 (GRCm39) S40P probably damaging Het
Igkv4-62 C T 6: 69,377,035 (GRCm39) G38E probably damaging Het
Ints1 T C 5: 139,757,437 (GRCm39) D358G probably damaging Het
Madd A G 2: 90,984,888 (GRCm39) probably benign Het
Map3k6 A G 4: 132,974,439 (GRCm39) S580G probably damaging Het
Myef2 A G 2: 124,940,402 (GRCm39) M383T probably damaging Het
Myo3b T C 2: 70,119,730 (GRCm39) L930P probably damaging Het
Ndufaf3 C T 9: 108,444,068 (GRCm39) R20Q probably benign Het
Npr2 T C 4: 43,640,248 (GRCm39) S328P probably damaging Het
Or1r1 A T 11: 73,875,144 (GRCm39) C97S probably damaging Het
Or4k15b T A 14: 50,272,507 (GRCm39) M118L probably benign Het
Pdpr T C 8: 111,839,342 (GRCm39) I155T possibly damaging Het
Phf11b A T 14: 59,560,631 (GRCm39) I216K probably benign Het
Phkg1 T C 5: 129,893,813 (GRCm39) probably null Het
Pik3r6 A G 11: 68,422,276 (GRCm39) Y225C probably benign Het
Plekhh2 A T 17: 84,914,356 (GRCm39) D1253V possibly damaging Het
Plppr3 T C 10: 79,702,757 (GRCm39) T155A probably damaging Het
Ppp6r2 T C 15: 89,166,192 (GRCm39) F732S probably damaging Het
Ryr1 A G 7: 28,799,627 (GRCm39) probably benign Het
Slc16a8 T G 15: 79,135,432 (GRCm39) S459R probably damaging Het
Slc25a12 A T 2: 71,123,696 (GRCm39) probably benign Het
Slc38a2 T C 15: 96,591,066 (GRCm39) probably benign Het
Slit1 C A 19: 41,594,824 (GRCm39) W1182L possibly damaging Het
Snx2 C T 18: 53,327,495 (GRCm39) probably benign Het
Sos1 A T 17: 80,752,929 (GRCm39) V335D probably damaging Het
St18 A G 1: 6,872,856 (GRCm39) D197G probably damaging Het
Ston2 G T 12: 91,615,522 (GRCm39) N295K possibly damaging Het
Stpg3 A G 2: 25,103,191 (GRCm39) probably benign Het
Tmem63a A G 1: 180,799,654 (GRCm39) I675V probably damaging Het
Vmn2r16 T A 5: 109,488,294 (GRCm39) L389Q probably damaging Het
Vps13d C A 4: 144,699,320 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,681,934 (GRCm39) D3012E probably damaging Het
Other mutations in Igkv4-50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02612:Igkv4-50 APN 6 69,678,024 (GRCm39) missense probably benign 0.24
IGL03039:Igkv4-50 APN 6 69,678,042 (GRCm39) missense probably benign 0.08
R3547:Igkv4-50 UTSW 6 69,677,765 (GRCm39) missense probably benign 0.31
R4731:Igkv4-50 UTSW 6 69,677,984 (GRCm39) missense probably benign 0.02
R4732:Igkv4-50 UTSW 6 69,677,984 (GRCm39) missense probably benign 0.02
R4733:Igkv4-50 UTSW 6 69,677,984 (GRCm39) missense probably benign 0.02
R7572:Igkv4-50 UTSW 6 69,677,951 (GRCm39) missense probably damaging 0.98
R9401:Igkv4-50 UTSW 6 69,677,967 (GRCm39) missense
Posted On 2013-06-21