Incidental Mutation 'IGL03063:Igkv9-129'
ID 409551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv9-129
Ensembl Gene ENSMUSG00000093906
Gene Name immunoglobulin kappa variable 9-129
Synonyms immunoglobulin kappa light chain
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # IGL03063
Quality Score
Status
Chromosome 6
Chromosomal Location 67816777-67817250 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67817172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 92 (D92V)
Ref Sequence ENSEMBL: ENSMUSP00000142382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103308] [ENSMUST00000200578]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000103308
AA Change: D91V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100109
Gene: ENSMUSG00000093906
AA Change: D91V

DomainStartEndE-ValueType
IGv 39 111 1.74e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000200578
AA Change: D92V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142382
Gene: ENSMUSG00000093906
AA Change: D92V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 112 7e-15 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 45,665,856 (GRCm39) V255I probably benign Het
Arfgef2 T C 2: 166,701,702 (GRCm39) probably benign Het
Bpifb2 A T 2: 153,731,044 (GRCm39) Q205L probably damaging Het
Ccdc30 C T 4: 119,206,964 (GRCm39) R386Q possibly damaging Het
Cdk5rap2 T A 4: 70,273,114 (GRCm39) probably null Het
Comtd1 A G 14: 21,897,735 (GRCm39) probably null Het
Dao T C 5: 114,159,076 (GRCm39) C261R probably damaging Het
Dner A G 1: 84,563,059 (GRCm39) V187A possibly damaging Het
Dsg3 T C 18: 20,666,425 (GRCm39) probably benign Het
Eif3j2 A G 18: 43,610,444 (GRCm39) L123P possibly damaging Het
Esf1 G A 2: 139,996,706 (GRCm39) probably benign Het
Exo5 G A 4: 120,778,830 (GRCm39) T345I possibly damaging Het
Fancl A T 11: 26,337,299 (GRCm39) I29F probably damaging Het
Gadl1 C T 9: 115,795,335 (GRCm39) H313Y probably damaging Het
Gm17190 G A 13: 96,219,270 (GRCm39) probably benign Het
Gtf3c1 G T 7: 125,245,675 (GRCm39) T1580N possibly damaging Het
Gtf3c6 T A 10: 40,127,155 (GRCm39) I66L probably benign Het
Hhla1 A G 15: 65,813,639 (GRCm39) I231T probably damaging Het
Hk2 A G 6: 82,716,630 (GRCm39) Y273H probably damaging Het
Hk2 A G 6: 82,726,213 (GRCm39) I83T probably benign Het
Ifit1 T C 19: 34,625,404 (GRCm39) V180A possibly damaging Het
Lrrc1 A G 9: 77,406,551 (GRCm39) F36S probably damaging Het
Man1b1 A G 2: 25,224,416 (GRCm39) E102G possibly damaging Het
Myh8 A G 11: 67,179,031 (GRCm39) S475G probably benign Het
Or52s1 T A 7: 102,861,841 (GRCm39) V247D probably damaging Het
Otud4 T A 8: 80,390,419 (GRCm39) M343K probably benign Het
Peg10 A T 6: 4,756,647 (GRCm39) probably benign Het
Plet1 T A 9: 50,415,722 (GRCm39) N197K probably benign Het
Ppp1r12a C T 10: 108,097,115 (GRCm39) R243C probably damaging Het
Serpinb10 A T 1: 107,469,957 (GRCm39) K146N possibly damaging Het
Sis A G 3: 72,835,630 (GRCm39) F911L probably benign Het
Spon1 G A 7: 113,632,260 (GRCm39) V528M possibly damaging Het
Tdrd9 T C 12: 112,010,733 (GRCm39) V1100A probably benign Het
Tmtc3 T C 10: 100,283,468 (GRCm39) M696V probably benign Het
Triobp A G 15: 78,875,084 (GRCm39) E122G probably damaging Het
Wt1 G A 2: 105,000,368 (GRCm39) probably null Het
Other mutations in Igkv9-129
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4548:Igkv9-129 UTSW 6 67,817,018 (GRCm39) missense probably damaging 1.00
R4210:Igkv9-129 UTSW 6 67,817,242 (GRCm39) missense possibly damaging 0.62
R4405:Igkv9-129 UTSW 6 67,816,784 (GRCm39) missense probably damaging 1.00
R8305:Igkv9-129 UTSW 6 67,817,206 (GRCm39) missense probably benign 0.13
R8442:Igkv9-129 UTSW 6 67,816,784 (GRCm39) missense probably damaging 1.00
R8886:Igkv9-129 UTSW 6 67,817,221 (GRCm39) nonsense probably null
R8988:Igkv9-129 UTSW 6 67,817,106 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02