Incidental Mutation 'IGL02247:Igkv1-133'
ID 286214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv1-133
Ensembl Gene ENSMUSG00000094491
Gene Name immunoglobulin kappa variable 1-133
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # IGL02247
Quality Score
Status
Chromosome 6
Chromosomal Location 67701898-67702645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67702590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 103 (V103M)
Ref Sequence ENSEMBL: ENSMUSP00000100105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103304]
AlphaFold A0A0B4J1H8
Predicted Effect probably damaging
Transcript: ENSMUST00000103304
AA Change: V103M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100105
Gene: ENSMUSG00000094491
AA Change: V103M

DomainStartEndE-ValueType
IGv 38 115 9.25e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168310
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,974,905 (GRCm39) R177G probably damaging Het
Ap3b1 T C 13: 94,531,303 (GRCm39) probably null Het
Ascc3 A C 10: 50,526,686 (GRCm39) K595T probably damaging Het
Cnpy4 A G 5: 138,191,125 (GRCm39) T234A probably benign Het
Col13a1 T C 10: 61,797,124 (GRCm39) Y101C probably damaging Het
Crybg3 A G 16: 59,323,513 (GRCm39) I2809T probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dgkz T C 2: 91,767,805 (GRCm39) S824G probably benign Het
Dsg1c T A 18: 20,397,373 (GRCm39) I27N probably damaging Het
Efhb C T 17: 53,708,652 (GRCm39) V673I probably benign Het
Egr1 T C 18: 34,995,916 (GRCm39) Y233H possibly damaging Het
Fam184a T C 10: 53,551,256 (GRCm39) E237G probably damaging Het
Galt A G 4: 41,755,623 (GRCm39) probably benign Het
Gm4795 T C 10: 44,883,211 (GRCm39) noncoding transcript Het
Gm6563 G A 19: 23,653,392 (GRCm39) E61K possibly damaging Het
Iqcb1 T A 16: 36,660,258 (GRCm39) H140Q probably benign Het
Itpk1 G T 12: 102,589,668 (GRCm39) P74Q probably damaging Het
Itpr3 T A 17: 27,317,153 (GRCm39) W803R probably damaging Het
Lgr4 A T 2: 109,832,846 (GRCm39) D312V probably benign Het
Lgr4 C T 2: 109,838,420 (GRCm39) probably benign Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mllt6 C A 11: 97,561,158 (GRCm39) A282E probably benign Het
Mtif2 T C 11: 29,490,642 (GRCm39) S449P possibly damaging Het
Nrg3 T C 14: 38,093,269 (GRCm39) I533M probably damaging Het
Nynrin C T 14: 56,109,167 (GRCm39) Q1425* probably null Het
Or12e13 A G 2: 87,663,873 (GRCm39) I163M probably damaging Het
Or1e1f A T 11: 73,855,688 (GRCm39) M85L probably benign Het
Or4n4b T A 14: 50,536,571 (GRCm39) N65I probably damaging Het
Or4p22 C T 2: 88,317,771 (GRCm39) H232Y probably benign Het
Or56a3 T A 7: 104,735,530 (GRCm39) Y202* probably null Het
Or5b3 T A 19: 13,388,831 (GRCm39) S299R probably benign Het
Or7e175 G A 9: 20,048,516 (GRCm39) V35I probably benign Het
Plcb4 C T 2: 135,836,245 (GRCm39) T20I possibly damaging Het
Ppp1r12b G T 1: 134,763,721 (GRCm39) T771K probably benign Het
Prss22 T C 17: 24,215,363 (GRCm39) T138A probably benign Het
Ros1 A T 10: 52,005,677 (GRCm39) S907T probably damaging Het
Rtel1 T A 2: 180,993,134 (GRCm39) Y521* probably null Het
Sacs T C 14: 61,429,984 (GRCm39) F678S probably damaging Het
Smtnl1 A T 2: 84,647,372 (GRCm39) probably benign Het
Sumf2 T C 5: 129,888,986 (GRCm39) V258A probably damaging Het
Tas1r2 A T 4: 139,396,827 (GRCm39) Y722F probably damaging Het
Tecpr1 A G 5: 144,143,372 (GRCm39) F668L possibly damaging Het
Timd4 T C 11: 46,706,558 (GRCm39) F120S probably damaging Het
Tnnt3 T C 7: 142,062,062 (GRCm39) probably benign Het
Trp53bp1 G A 2: 121,067,070 (GRCm39) S552F probably damaging Het
Txlnb G A 10: 17,706,090 (GRCm39) R333Q possibly damaging Het
Txlnb A G 10: 17,717,276 (GRCm39) probably benign Het
Uroc1 A G 6: 90,324,910 (GRCm39) E461G probably benign Het
Vps45 G A 3: 95,950,236 (GRCm39) T231I probably damaging Het
Zfp648 T A 1: 154,079,923 (GRCm39) S27R probably benign Het
Other mutations in Igkv1-133
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2483:Igkv1-133 UTSW 6 67,701,944 (GRCm39) missense probably benign
R3622:Igkv1-133 UTSW 6 67,701,944 (GRCm39) missense probably benign
R3623:Igkv1-133 UTSW 6 67,701,944 (GRCm39) missense probably benign
R3624:Igkv1-133 UTSW 6 67,701,944 (GRCm39) missense probably benign
R4074:Igkv1-133 UTSW 6 67,702,505 (GRCm39) nonsense probably null
R5290:Igkv1-133 UTSW 6 67,702,563 (GRCm39) missense possibly damaging 0.83
R5471:Igkv1-133 UTSW 6 67,702,531 (GRCm39) missense probably benign 0.26
R7259:Igkv1-133 UTSW 6 67,702,522 (GRCm39) missense probably benign 0.00
R7363:Igkv1-133 UTSW 6 67,702,395 (GRCm39) missense probably benign 0.06
R7911:Igkv1-133 UTSW 6 67,701,924 (GRCm39) missense probably benign
R7965:Igkv1-133 UTSW 6 67,702,578 (GRCm39) nonsense probably null
Posted On 2015-04-16