Incidental Mutation 'IGL01443:Igkv3-1'
ID 84301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv3-1
Ensembl Gene ENSMUSG00000095682
Gene Name immunoglobulin kappa variable 3-1
Synonyms V(kappa)21G
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL01443
Quality Score
Status
Chromosome 6
Chromosomal Location 70680562-70681161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70681088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 96 (S96G)
Ref Sequence ENSEMBL: ENSMUSP00000100205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103404]
AlphaFold A0A075B5P1
Predicted Effect possibly damaging
Transcript: ENSMUST00000103404
AA Change: S96G

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100205
Gene: ENSMUSG00000095682
AA Change: S96G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 114 3.96e-16 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,694,690 (GRCm39) E1159G possibly damaging Het
Adgrl3 A G 5: 81,613,134 (GRCm39) Y189C probably damaging Het
AW554918 G A 18: 25,478,012 (GRCm39) G446R probably damaging Het
Baiap3 A G 17: 25,464,121 (GRCm39) F884S possibly damaging Het
Cd101 T C 3: 100,910,887 (GRCm39) T924A probably benign Het
Cdk12 T A 11: 98,136,295 (GRCm39) V1183E unknown Het
Clcc1 T C 3: 108,578,219 (GRCm39) M240T probably benign Het
Dnmbp C A 19: 43,891,309 (GRCm39) A153S probably damaging Het
Dus4l T C 12: 31,702,409 (GRCm39) probably benign Het
Dyrk1a A G 16: 94,485,943 (GRCm39) E430G probably benign Het
Erc1 T C 6: 119,801,432 (GRCm39) K195R probably damaging Het
Evpl T C 11: 116,113,280 (GRCm39) E1470G probably damaging Het
Extl3 A T 14: 65,314,919 (GRCm39) S88T probably damaging Het
Fam135b A T 15: 71,335,213 (GRCm39) H660Q probably benign Het
Fat1 G A 8: 45,493,613 (GRCm39) G3920S probably damaging Het
Fbxo38 A G 18: 62,666,741 (GRCm39) V144A probably damaging Het
Grwd1 C T 7: 45,479,834 (GRCm39) probably null Het
Hdlbp T C 1: 93,358,796 (GRCm39) T252A probably damaging Het
Igkv4-68 G T 6: 69,281,921 (GRCm39) F83L probably damaging Het
Klhl31 T C 9: 77,557,542 (GRCm39) V86A possibly damaging Het
Lypd3 G A 7: 24,336,063 (GRCm39) G17R probably benign Het
Manba T A 3: 135,250,589 (GRCm39) D405E probably damaging Het
Map3k19 A G 1: 127,766,244 (GRCm39) S227P probably benign Het
Nras T A 3: 102,969,751 (GRCm39) C118S probably benign Het
Or52n20 A G 7: 104,320,278 (GRCm39) D123G probably damaging Het
Pde8a T C 7: 80,973,929 (GRCm39) F629L probably damaging Het
Phtf2 A G 5: 20,987,265 (GRCm39) probably benign Het
Pik3c2a A T 7: 116,017,429 (GRCm39) F109L probably benign Het
Plod3 G A 5: 137,019,075 (GRCm39) R320H probably benign Het
Ppib T C 9: 65,972,879 (GRCm39) F152L probably damaging Het
Rbm19 T C 5: 120,281,503 (GRCm39) probably benign Het
Rgs12 T A 5: 35,132,563 (GRCm39) S628R probably benign Het
Ripk1 A G 13: 34,199,251 (GRCm39) D201G probably damaging Het
Speer4c2 A G 5: 15,857,642 (GRCm39) *212Q probably null Het
St14 G T 9: 31,011,489 (GRCm39) S434* probably null Het
Tbc1d9 A G 8: 83,966,560 (GRCm39) D387G probably damaging Het
Trio A G 15: 27,838,861 (GRCm39) probably benign Het
Ttn G A 2: 76,544,215 (GRCm39) R32924C probably damaging Het
Vmn1r181 T C 7: 23,684,006 (GRCm39) V157A possibly damaging Het
Zfp473 C T 7: 44,388,987 (GRCm39) D45N probably damaging Het
Other mutations in Igkv3-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02536:Igkv3-1 APN 6 70,681,035 (GRCm39) missense probably benign 0.01
R0760:Igkv3-1 UTSW 6 70,681,119 (GRCm39) missense probably damaging 1.00
R4858:Igkv3-1 UTSW 6 70,681,028 (GRCm39) missense probably damaging 1.00
R7855:Igkv3-1 UTSW 6 70,681,053 (GRCm39) missense probably benign 0.23
R9394:Igkv3-1 UTSW 6 70,680,953 (GRCm39) missense probably benign
Posted On 2013-11-11