Incidental Mutation 'IGL01543:Igkv4-59'
ID 90205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv4-59
Ensembl Gene ENSMUSG00000094006
Gene Name immunoglobulin kappa variable 4-59
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # IGL01543
Quality Score
Status
Chromosome 6
Chromosomal Location 69415202-69415725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69415345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 70 (Y70F)
Ref Sequence ENSEMBL: ENSMUSP00000100155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103354]
AlphaFold A0A0B4J1I8
Predicted Effect probably damaging
Transcript: ENSMUST00000103354
AA Change: Y70F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100155
Gene: ENSMUSG00000094006
AA Change: Y70F

DomainStartEndE-ValueType
IGv 40 111 7.11e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 59,932,097 (GRCm39) I204T probably benign Het
Abhd16a T C 17: 35,310,013 (GRCm39) S69P probably damaging Het
Ampd1 C T 3: 103,003,029 (GRCm39) T582I probably benign Het
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Arid1a A T 4: 133,409,033 (GRCm39) F1825I unknown Het
Asxl1 G A 2: 153,243,404 (GRCm39) G1318D probably benign Het
B4galnt3 G A 6: 120,186,273 (GRCm39) H807Y probably benign Het
Bpifb5 G T 2: 154,075,169 (GRCm39) V366F possibly damaging Het
Caskin1 T C 17: 24,723,522 (GRCm39) V770A probably benign Het
Ccdc152 G A 15: 3,327,606 (GRCm39) T57I possibly damaging Het
Ccs T C 19: 4,884,269 (GRCm39) E61G possibly damaging Het
Chsy3 G A 18: 59,543,472 (GRCm39) W870* probably null Het
Col8a1 G A 16: 57,448,097 (GRCm39) P471L unknown Het
Cyp2j6 A C 4: 96,414,161 (GRCm39) V368G possibly damaging Het
Dnajc3 T C 14: 119,198,274 (GRCm39) probably null Het
Dpep3 A T 8: 106,702,814 (GRCm39) M316K probably damaging Het
Galntl5 A G 5: 25,400,349 (GRCm39) E126G probably damaging Het
Gli1 T C 10: 127,168,347 (GRCm39) N502S probably damaging Het
Hus1 A G 11: 8,950,082 (GRCm39) L213P probably benign Het
Hypk A G 2: 121,287,776 (GRCm39) probably null Het
Impdh1 A C 6: 29,203,377 (GRCm39) V14G probably damaging Het
Kif26b A G 1: 178,506,526 (GRCm39) M201V probably benign Het
Macf1 A G 4: 123,295,250 (GRCm39) I5323T probably damaging Het
Mmp16 C T 4: 18,051,743 (GRCm39) A244V probably damaging Het
Obscn T C 11: 58,932,943 (GRCm39) D5619G probably benign Het
Or2ag20 T C 7: 106,465,125 (GRCm39) S313P probably benign Het
Pcdh7 T C 5: 57,878,107 (GRCm39) V554A probably damaging Het
Piezo2 T C 18: 63,203,101 (GRCm39) E1513G probably damaging Het
Rab6b A G 9: 103,039,837 (GRCm39) D75G probably damaging Het
Ryr1 T C 7: 28,790,501 (GRCm39) Y1435C probably damaging Het
Scarf2 A G 16: 17,620,413 (GRCm39) N81S probably damaging Het
Six5 G A 7: 18,830,272 (GRCm39) A300T possibly damaging Het
Skap2 T A 6: 51,989,375 (GRCm39) N3Y possibly damaging Het
Skint6 A T 4: 112,757,160 (GRCm39) S734T probably benign Het
Slc15a4 A C 5: 127,680,830 (GRCm39) H396Q probably benign Het
Slco6c1 A G 1: 97,053,553 (GRCm39) M116T possibly damaging Het
Slfn9 T C 11: 82,878,775 (GRCm39) D118G probably benign Het
Trim3 T C 7: 105,262,520 (GRCm39) D546G probably damaging Het
Trpa1 A G 1: 14,970,300 (GRCm39) L362P probably damaging Het
Vasn A G 16: 4,467,756 (GRCm39) T568A possibly damaging Het
Vwa5b2 A G 16: 20,414,466 (GRCm39) M281V probably benign Het
Wwp2 A G 8: 108,210,000 (GRCm39) E126G probably damaging Het
Zfp398 G A 6: 47,842,997 (GRCm39) G350S probably damaging Het
Other mutations in Igkv4-59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Igkv4-59 APN 6 69,415,707 (GRCm39) missense probably benign 0.40
IGL03410:Igkv4-59 APN 6 69,415,450 (GRCm39) missense probably damaging 0.99
R7363:Igkv4-59 UTSW 6 69,415,396 (GRCm39) missense probably damaging 1.00
R7818:Igkv4-59 UTSW 6 69,415,475 (GRCm39) missense possibly damaging 0.86
R7876:Igkv4-59 UTSW 6 69,415,337 (GRCm39) missense probably damaging 0.99
R9002:Igkv4-59 UTSW 6 69,415,475 (GRCm39) missense possibly damaging 0.86
Posted On 2013-12-03