Incidental Mutation 'IGL01392:Igkv8-30'
ID79247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv8-30
Ensembl Gene ENSMUSG00000076577
Gene Nameimmunoglobulin kappa chain variable 8-30
SynonymsGm10883, ENSMUSG00000073025
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01392
Quality Score
Status
Chromosome6
Chromosomal Location70117061-70117617 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70117347 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 27 (S27P)
Ref Sequence ENSEMBL: ENSMUSP00000100179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103378]
Predicted Effect probably benign
Transcript: ENSMUST00000103378
AA Change: S27P

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100179
Gene: ENSMUSG00000076577
AA Change: S27P

DomainStartEndE-ValueType
IGv 38 116 8.1e-22 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,500,546 V2A probably benign Het
Adgrf5 A T 17: 43,450,012 Q866L probably benign Het
Ankrd13a A G 5: 114,797,853 E295G probably benign Het
Arid1a T C 4: 133,681,037 D2053G unknown Het
Calr4 A G 4: 109,253,874 E272G probably benign Het
Cmya5 T C 13: 93,089,206 S3125G probably damaging Het
Dnah7b T C 1: 46,126,788 Y538H probably damaging Het
Eri3 T C 4: 117,589,159 probably null Het
Fmo6 T A 1: 162,930,011 R63* probably null Het
Gm7168 G A 17: 13,948,907 D179N probably benign Het
Gm8979 T C 7: 106,083,755 I98V probably benign Het
Got1l1 T C 8: 27,197,991 T337A probably damaging Het
Igf2r A G 17: 12,704,349 M1191T probably benign Het
Ighv1-54 A G 12: 115,193,937 L30P probably damaging Het
Kcnab2 A T 4: 152,393,797 V335E possibly damaging Het
Klf12 A T 14: 100,149,757 I3N probably damaging Het
Megf8 T C 7: 25,363,749 V2510A probably benign Het
Mme A G 3: 63,362,046 D592G probably damaging Het
Myh1 A G 11: 67,221,301 N1727S probably benign Het
Ncor1 A G 11: 62,340,594 S796P probably damaging Het
Nlrp14 A G 7: 107,197,913 probably benign Het
Olfr1443 T A 19: 12,680,803 Y232N probably benign Het
Olfr508 C T 7: 108,630,678 R229C probably benign Het
Olfr564 T A 7: 102,803,854 Y125* probably null Het
Plekhm2 A G 4: 141,642,426 V86A probably damaging Het
Popdc2 G T 16: 38,374,131 V305L probably benign Het
Prpmp5 T C 6: 132,312,420 N147S unknown Het
Rttn C T 18: 88,995,613 H469Y probably benign Het
Slc2a12 T C 10: 22,664,684 V146A probably damaging Het
Sptlc3 A G 2: 139,546,421 E111G possibly damaging Het
Zfp108 T C 7: 24,258,447 probably benign Het
Zfp719 T A 7: 43,591,130 F714Y probably damaging Het
Other mutations in Igkv8-30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02810:Igkv8-30 APN 6 70117358 missense probably benign 0.01
IGL02883:Igkv8-30 APN 6 70117617 start codon destroyed probably null 0.85
IGL03260:Igkv8-30 APN 6 70117355 missense probably damaging 0.98
R2089:Igkv8-30 UTSW 6 70117086 missense probably damaging 1.00
R2091:Igkv8-30 UTSW 6 70117086 missense probably damaging 1.00
R2091:Igkv8-30 UTSW 6 70117086 missense probably damaging 1.00
Posted On2013-11-05