Incidental Mutation 'IGL03039:Igkv1-88'
ID 408827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv1-88
Ensembl Gene ENSMUSG00000076535
Gene Name immunoglobulin kappa chain variable 1-88
Synonyms Gm16904
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL03039
Quality Score
Status
Chromosome 6
Chromosomal Location 68839249-68840015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68839276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 112 (Y112C)
Ref Sequence ENSEMBL: ENSMUSP00000100137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103336]
AlphaFold A0A140T8N1
Predicted Effect possibly damaging
Transcript: ENSMUST00000103336
AA Change: Y112C

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100137
Gene: ENSMUSG00000076535
AA Change: Y112C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 115 7.51e-17 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T C 12: 113,454,502 (GRCm39) C440R probably damaging Het
Agbl2 A G 2: 90,631,566 (GRCm39) D308G possibly damaging Het
Cfh G T 1: 140,063,999 (GRCm39) Q408K possibly damaging Het
Chrna7 A G 7: 62,798,340 (GRCm39) L114P probably damaging Het
Defa35 G A 8: 21,555,839 (GRCm39) C66Y probably damaging Het
Dnah12 C A 14: 26,445,667 (GRCm39) Q743K probably benign Het
Elapor2 A G 5: 9,468,055 (GRCm39) E241G probably benign Het
Esco2 T C 14: 66,068,867 (GRCm39) K148E probably damaging Het
Gm17079 T A 14: 51,930,518 (GRCm39) E109V probably damaging Het
Herc2 T A 7: 55,818,769 (GRCm39) probably benign Het
Igkv4-50 T C 6: 69,678,042 (GRCm39) R21G probably benign Het
Kbtbd11 A G 8: 15,077,467 (GRCm39) D22G probably benign Het
Kcnb2 A G 1: 15,781,435 (GRCm39) D769G probably benign Het
Kdm2b C A 5: 123,019,734 (GRCm39) W817L probably benign Het
Myo18b A G 5: 112,988,637 (GRCm39) V983A probably damaging Het
Nr1d2 A T 14: 18,215,184 (GRCm38) M276K probably benign Het
Or10ag59 T A 2: 87,405,536 (GRCm39) M36K probably benign Het
Or2ak7 T A 11: 58,574,837 (GRCm39) V46D probably damaging Het
Phf20 T C 2: 156,140,461 (GRCm39) Y712H probably damaging Het
Phkg2 T A 7: 127,178,866 (GRCm39) Y27* probably null Het
Pomt2 C A 12: 87,157,140 (GRCm39) L726F probably benign Het
Setd3 T C 12: 108,129,229 (GRCm39) probably null Het
Skint4 T C 4: 111,981,847 (GRCm39) V272A probably benign Het
Slc41a2 A G 10: 83,119,722 (GRCm39) Y347H probably benign Het
Slc45a2 T C 15: 11,012,773 (GRCm39) S259P probably benign Het
Tgfbr3 A C 5: 107,325,665 (GRCm39) probably benign Het
Tgfbrap1 A T 1: 43,115,088 (GRCm39) I4N possibly damaging Het
Trh C A 6: 92,220,709 (GRCm39) R51L probably damaging Het
Vars2 A T 17: 35,975,013 (GRCm39) V312E probably damaging Het
Wdfy2 T C 14: 63,186,169 (GRCm39) V268A probably benign Het
Other mutations in Igkv1-88
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5982:Igkv1-88 UTSW 6 68,839,432 (GRCm39) missense probably damaging 1.00
R7615:Igkv1-88 UTSW 6 68,839,357 (GRCm39) missense probably damaging 1.00
R9336:Igkv1-88 UTSW 6 68,839,313 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02