Incidental Mutation 'IGL01983:Igkv3-5'
ID183515
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv3-5
Ensembl Gene ENSMUSG00000095335
Gene Nameimmunoglobulin kappa chain variable 3-5
SynonymsGm16774, Igk-V21-5
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.252) question?
Stock #IGL01983
Quality Score
Status
Chromosome6
Chromosomal Location70663298-70663895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70663686 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 50 (D50E)
Ref Sequence ENSEMBL: ENSMUSP00000100201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103400]
Predicted Effect probably benign
Transcript: ENSMUST00000103400
AA Change: D50E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000100201
Gene: ENSMUSG00000095335
AA Change: D50E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 114 7.98e-21 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,841,624 Q328* probably null Het
Alpk2 T C 18: 65,350,682 Y85C probably damaging Het
Arhgap31 C T 16: 38,601,765 R1313Q probably damaging Het
Chrnb1 G T 11: 69,795,729 R22S probably benign Het
Clec7a G A 6: 129,465,576 probably benign Het
Epb41l5 A G 1: 119,579,084 probably benign Het
Fam49b A G 15: 63,937,387 S251P probably benign Het
Gm10093 T A 17: 78,492,853 D424E probably benign Het
Hydin A C 8: 110,514,895 I2106L probably benign Het
Irf2bp1 G T 7: 19,005,295 A287S possibly damaging Het
Ldb3 G A 14: 34,577,199 S156L probably benign Het
Lnpep A T 17: 17,531,178 W942R probably damaging Het
Mst1r T A 9: 107,917,276 V1218D probably damaging Het
Naxd G T 8: 11,510,218 probably benign Het
Nol9 T C 4: 152,046,037 probably null Het
Nus1 T A 10: 52,436,657 L295Q probably damaging Het
Nxph2 A G 2: 23,399,934 I99M probably benign Het
Plekhg1 T A 10: 3,945,904 I432N probably damaging Het
Pon3 A G 6: 5,240,974 L69S probably damaging Het
Pram1 C A 17: 33,640,861 A134D probably damaging Het
Serpinb6c T A 13: 33,897,334 probably benign Het
Stk10 A T 11: 32,589,460 E280V probably benign Het
Tbc1d10c T A 19: 4,190,709 Q34L possibly damaging Het
Tnr G A 1: 159,863,779 V500I probably benign Het
Trim66 G A 7: 109,458,251 R992* probably null Het
Unc45b A G 11: 82,936,861 D728G probably benign Het
Usp13 A G 3: 32,917,459 D696G probably damaging Het
Utrn C T 10: 12,669,781 V1707I probably benign Het
Vmn2r96 A T 17: 18,597,265 H368L probably damaging Het
Xrn1 T C 9: 95,973,368 probably null Het
Zfhx3 C A 8: 108,947,234 L1639M probably damaging Het
Znfx1 A T 2: 167,056,350 V218E probably damaging Het
Other mutations in Igkv3-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01690:Igkv3-5 APN 6 70663881 missense probably benign 0.21
IGL01769:Igkv3-5 APN 6 70663352 splice site probably benign
R5997:Igkv3-5 UTSW 6 70663704 missense probably benign
Z1177:Igkv3-5 UTSW 6 70663670 missense probably damaging 0.99
Posted On2014-05-07