Incidental Mutation 'IGL02627:Igkv3-2'
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ID301126
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: 0.175) question?
Stock #IGL02627
Quality Score
Status
Chromosome6
Chromosomal Location70698468-70699067 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 70698826 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 40 (T40S)
Ref Sequence ENSEMBL: ENSMUSP00000100204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103403] [ENSMUST00000103404]
Predicted Effect probably damaging
Transcript: ENSMUST00000103403
AA Change: T40S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100204
Gene: ENSMUSG00000095351
AA Change: T40S

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,795,765 K353M probably damaging Het
2610301B20Rik G A 4: 10,898,039 C207Y probably damaging Het
Arhgap32 T C 9: 32,246,006 Y100H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ckap5 A T 2: 91,576,021 N752I probably damaging Het
Dgkz T A 2: 91,938,710 probably benign Het
Egfr T A 11: 16,869,346 V292E probably damaging Het
Gnb3 T C 6: 124,834,715 T329A probably damaging Het
Kcnq2 T C 2: 181,082,327 probably benign Het
Mbip T C 12: 56,335,805 Q292R probably benign Het
Mgat5b T C 11: 116,983,616 Y625H probably damaging Het
Ms4a4d A T 19: 11,548,623 E40D probably damaging Het
Naip1 T C 13: 100,425,648 E1003G possibly damaging Het
Ncf2 G A 1: 152,811,008 probably benign Het
Nfkbiz A G 16: 55,816,351 V529A probably damaging Het
Osr2 A G 15: 35,300,454 N52S possibly damaging Het
Prag1 A G 8: 36,139,439 D778G possibly damaging Het
Rsl1d1 G T 16: 11,194,551 A337E possibly damaging Het
Sall3 A T 18: 80,972,361 L784Q possibly damaging Het
Spen A G 4: 141,473,015 I2744T probably damaging Het
Tfip11 A C 5: 112,329,813 S145R possibly damaging Het
Tonsl T C 15: 76,634,095 D559G probably damaging Het
Trmt5 A T 12: 73,281,455 S325T probably damaging Het
Ubr1 A T 2: 120,940,991 V472D probably damaging Het
Vmn1r30 T A 6: 58,435,761 T29S probably benign Het
Vps29 T C 5: 122,362,845 S158P probably benign Het
Wdr82 T C 9: 106,176,687 V79A possibly damaging Het
Wfdc16 T A 2: 164,638,463 E37D possibly damaging Het
Other mutations in Igkv3-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Igkv3-2 APN 6 70698994 missense probably damaging 0.98
IGL02352:Igkv3-2 APN 6 70698490 missense probably damaging 0.96
IGL02359:Igkv3-2 APN 6 70698490 missense probably damaging 0.96
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 On2015-04-16