Incidental Mutation 'IGL01392:Igkv8-30'
ID 79247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv8-30
Ensembl Gene ENSMUSG00000076577
Gene Name immunoglobulin kappa chain variable 8-30
Synonyms Gm10883, ENSMUSG00000073025
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # IGL01392
Quality Score
Status
Chromosome 6
Chromosomal Location 70094045-70094601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70094331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 27 (S27P)
Ref Sequence ENSEMBL: ENSMUSP00000100179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103378]
AlphaFold A0A140T8M3
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: 58,390,558 (GRCm39) V2A probably benign Het
Adgrf5 A T 17: 43,760,903 (GRCm39) Q866L probably benign Het
Ankrd13a A G 5: 114,935,914 (GRCm39) E295G probably benign Het
Arid1a T C 4: 133,408,348 (GRCm39) D2053G unknown Het
Calr4 A G 4: 109,111,071 (GRCm39) E272G probably benign Het
Cmya5 T C 13: 93,225,714 (GRCm39) S3125G probably damaging Het
Dnah7b T C 1: 46,165,948 (GRCm39) Y538H probably damaging Het
Eri3 T C 4: 117,446,356 (GRCm39) probably null Het
Fmo6 T A 1: 162,757,580 (GRCm39) R63* probably null Het
Gm7168 G A 17: 14,169,169 (GRCm39) D179N probably benign Het
Got1l1 T C 8: 27,688,019 (GRCm39) T337A probably damaging Het
Gvin-ps3 T C 7: 105,682,962 (GRCm39) I98V probably benign Het
Igf2r A G 17: 12,923,236 (GRCm39) M1191T probably benign Het
Ighv1-54 A G 12: 115,157,557 (GRCm39) L30P probably damaging Het
Kcnab2 A T 4: 152,478,254 (GRCm39) V335E possibly damaging Het
Klf12 A T 14: 100,387,193 (GRCm39) I3N probably damaging Het
Megf8 T C 7: 25,063,174 (GRCm39) V2510A probably benign Het
Mme A G 3: 63,269,467 (GRCm39) D592G probably damaging Het
Myh1 A G 11: 67,112,127 (GRCm39) N1727S probably benign Het
Ncor1 A G 11: 62,231,420 (GRCm39) S796P probably damaging Het
Nlrp14 A G 7: 106,797,120 (GRCm39) probably benign Het
Or51f23 T A 7: 102,453,061 (GRCm39) Y125* probably null Het
Or5b95 T A 19: 12,658,167 (GRCm39) Y232N probably benign Het
Or5p80 C T 7: 108,229,885 (GRCm39) R229C probably benign Het
Plekhm2 A G 4: 141,369,737 (GRCm39) V86A probably damaging Het
Popdc2 G T 16: 38,194,493 (GRCm39) V305L probably benign Het
Prb1b T C 6: 132,289,383 (GRCm39) N147S unknown Het
Rttn C T 18: 89,013,737 (GRCm39) H469Y probably benign Het
Slc2a12 T C 10: 22,540,583 (GRCm39) V146A probably damaging Het
Sptlc3 A G 2: 139,388,341 (GRCm39) E111G possibly damaging Het
Zfp108 T C 7: 23,957,872 (GRCm39) probably benign Het
Zfp719 T A 7: 43,240,554 (GRCm39) F714Y probably damaging Het
Other mutations in Igkv8-30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02810:Igkv8-30 APN 6 70,094,342 (GRCm39) missense probably benign 0.01
IGL02883:Igkv8-30 APN 6 70,094,601 (GRCm39) start codon destroyed probably null 0.85
IGL03260:Igkv8-30 APN 6 70,094,339 (GRCm39) missense probably damaging 0.98
R2089:Igkv8-30 UTSW 6 70,094,070 (GRCm39) missense probably damaging 1.00
R2091:Igkv8-30 UTSW 6 70,094,070 (GRCm39) missense probably damaging 1.00
R2091:Igkv8-30 UTSW 6 70,094,070 (GRCm39) missense probably damaging 1.00
R7174:Igkv8-30 UTSW 6 70,094,582 (GRCm39) missense possibly damaging 0.67
R7185:Igkv8-30 UTSW 6 70,094,591 (GRCm39) missense probably damaging 0.98
R7185:Igkv8-30 UTSW 6 70,094,590 (GRCm39) missense probably benign 0.01
R7197:Igkv8-30 UTSW 6 70,094,069 (GRCm39) missense probably damaging 1.00
R7798:Igkv8-30 UTSW 6 70,094,355 (GRCm39) missense probably benign 0.01
R8874:Igkv8-30 UTSW 6 70,094,150 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05