Incidental Mutation 'IGL01118:Igkv3-2'
ID51342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv3-2
Ensembl Gene ENSMUSG00000095351
Gene Nameimmunoglobulin kappa variable 3-2
SynonymsV(kappa)21A
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #IGL01118
Quality Score
Status
Chromosome6
Chromosomal Location70698468-70699067 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 70698994 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 96 (S96C)
Ref Sequence ENSEMBL: ENSMUSP00000100204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103403] [ENSMUST00000103404]
Predicted Effect probably damaging
Transcript: ENSMUST00000103403
AA Change: S96C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100204
Gene: ENSMUSG00000095351
AA Change: S96C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 114 5.39e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103404
SMART Domains Protein: ENSMUSP00000100205
Gene: ENSMUSG00000095682

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,401,409 R539Q probably benign Het
Abcb1a G A 5: 8,674,687 R40H probably damaging Het
Acan T A 7: 79,098,653 S1057R possibly damaging Het
Ahnak A T 19: 9,012,578 D3742V probably damaging Het
Amdhd1 A T 10: 93,531,568 D241E probably benign Het
Cntn5 T C 9: 9,831,560 Y605C possibly damaging Het
Dgcr14 A T 16: 17,902,932 I350N probably damaging Het
Dnmt3l T C 10: 78,057,286 F299S probably damaging Het
G6pd2 A T 5: 61,810,063 M394L probably benign Het
Gm21319 T A 12: 87,773,442 N116Y probably damaging Het
Gm9839 A T 1: 32,519,843 M386K probably benign Het
Gtf2h3 T C 5: 124,595,668 V268A probably damaging Het
Hgs T C 11: 120,475,214 V195A probably damaging Het
Mgl2 A G 11: 70,134,189 E12G probably benign Het
Mup11 A T 4: 60,659,780 F153I probably damaging Het
Nf1 T A 11: 79,546,986 C2057S probably damaging Het
Nkrf A G X: 36,888,757 F624S probably damaging Het
Noto T C 6: 85,424,210 S74P probably benign Het
Olfr1090 A G 2: 86,753,970 I256T probably benign Het
Pax8 T C 2: 24,442,932 probably benign Het
Psg28 A T 7: 18,428,092 V162D probably damaging Het
Rai1 T C 11: 60,187,438 F776S probably damaging Het
Taar8a A T 10: 24,076,861 H121L probably damaging Het
Tas2r113 A G 6: 132,893,315 N102S probably benign Het
Trpm1 A G 7: 64,235,824 T863A probably benign Het
Ttf2 A G 3: 100,967,097 probably benign Het
Wdr62 T C 7: 30,242,781 H611R probably damaging Het
Wdr90 A T 17: 25,854,687 L762Q probably damaging Het
Yeats2 T G 16: 20,186,304 S364A probably damaging Het
Zdhhc15 G T X: 104,598,106 Q82K probably benign Het
Other mutations in Igkv3-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02352:Igkv3-2 APN 6 70698490 missense probably damaging 0.96
IGL02359:Igkv3-2 APN 6 70698490 missense probably damaging 0.96
IGL02627:Igkv3-2 APN 6 70698826 missense probably damaging 1.00
R3714:Igkv3-2 UTSW 6 70698496 missense possibly damaging 0.66
R4255:Igkv3-2 UTSW 6 70699061 missense probably benign 0.00
R4449:Igkv3-2 UTSW 6 70698841 missense probably benign 0.11
R4663:Igkv3-2 UTSW 6 70698879 missense probably benign 0.02
R5361:Igkv3-2 UTSW 6 70699027 missense probably benign 0.01
R6347:Igkv3-2 UTSW 6 70699033 missense probably benign 0.01
R6466:Igkv3-2 UTSW 6 70699039 missense probably benign 0.15
R6761:Igkv3-2 UTSW 6 70698517 critical splice donor site probably benign
R6874:Igkv3-2 UTSW 6 70698838 nonsense probably null
R8050:Igkv3-2 UTSW 6 70699004 missense probably damaging 1.00
Z1177:Igkv3-2 UTSW 6 70699015 nonsense probably null
Z1177:Igkv3-2 UTSW 6 70699046 missense probably benign 0.05
Posted On2013-06-21