Incidental Mutation 'IGL01443:Igkv3-1'
ID84301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv3-1
Ensembl Gene ENSMUSG00000095682
Gene Nameimmunoglobulin kappa variable 3-1
SynonymsV(kappa)21G
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL01443
Quality Score
Status
Chromosome6
Chromosomal Location70703578-70704177 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70704104 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 96 (S96G)
Ref Sequence ENSEMBL: ENSMUSP00000100205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103404]
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
4930572O03Rik A G 5: 15,652,644 *212Q probably null Het
Adamts2 A G 11: 50,803,863 E1159G possibly damaging Het
Adgrl3 A G 5: 81,465,287 Y189C probably damaging Het
AW554918 G A 18: 25,344,955 G446R probably damaging Het
Baiap3 A G 17: 25,245,147 F884S possibly damaging Het
Cd101 T C 3: 101,003,571 T924A probably benign Het
Cdk12 T A 11: 98,245,469 V1183E unknown Het
Clcc1 T C 3: 108,670,903 M240T probably benign Het
Dnmbp C A 19: 43,902,870 A153S probably damaging Het
Dus4l T C 12: 31,652,410 probably benign Het
Dyrk1a A G 16: 94,685,084 E430G probably benign Het
Erc1 T C 6: 119,824,471 K195R probably damaging Het
Evpl T C 11: 116,222,454 E1470G probably damaging Het
Extl3 A T 14: 65,077,470 S88T probably damaging Het
Fam135b A T 15: 71,463,364 H660Q probably benign Het
Fat1 G A 8: 45,040,576 G3920S probably damaging Het
Fbxo38 A G 18: 62,533,670 V144A probably damaging Het
Grwd1 C T 7: 45,830,410 probably null Het
Hdlbp T C 1: 93,431,074 T252A probably damaging Het
Igkv4-68 G T 6: 69,304,937 F83L probably damaging Het
Klhl31 T C 9: 77,650,260 V86A possibly damaging Het
Lypd3 G A 7: 24,636,638 G17R probably benign Het
Manba T A 3: 135,544,828 D405E probably damaging Het
Map3k19 A G 1: 127,838,507 S227P probably benign Het
Nras T A 3: 103,062,435 C118S probably benign Het
Olfr659 A G 7: 104,671,071 D123G probably damaging Het
Pde8a T C 7: 81,324,181 F629L probably damaging Het
Phtf2 A G 5: 20,782,267 probably benign Het
Pik3c2a A T 7: 116,418,194 F109L probably benign Het
Plod3 G A 5: 136,990,221 R320H probably benign Het
Ppib T C 9: 66,065,597 F152L probably damaging Het
Rbm19 T C 5: 120,143,438 probably benign Het
Rgs12 T A 5: 34,975,219 S628R probably benign Het
Ripk1 A G 13: 34,015,268 D201G probably damaging Het
St14 G T 9: 31,100,193 S434* probably null Het
Tbc1d9 A G 8: 83,239,931 D387G probably damaging Het
Trio A G 15: 27,838,775 probably benign Het
Ttn G A 2: 76,713,871 R32924C probably damaging Het
Vmn1r181 T C 7: 23,984,581 V157A possibly damaging Het
Zfp473 C T 7: 44,739,563 D45N probably damaging Het
Other mutations in Igkv3-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02536:Igkv3-1 APN 6 70704051 missense probably benign 0.01
R0760:Igkv3-1 UTSW 6 70704135 missense probably damaging 1.00
R4858:Igkv3-1 UTSW 6 70704044 missense probably damaging 1.00
R7855:Igkv3-1 UTSW 6 70704069 missense probably benign 0.23
Posted On2013-11-11