Incidental Mutation 'IGL01890:Igkv12-38'
ID 179225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv12-38
Ensembl Gene ENSMUSG00000076570
Gene Name immunoglobulin kappa chain variable 12-38
Synonyms Gm16690
Accession Numbers
Essential gene? Not available question?
Stock # IGL01890
Quality Score
Status
Chromosome 6
Chromosomal Location 69920170-69920632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69920389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 43 (C43Y)
Ref Sequence ENSEMBL: ENSMUSP00000142787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103371] [ENSMUST00000198880]
AlphaFold A0A075B5M8
Predicted Effect probably damaging
Transcript: ENSMUST00000103371
AA Change: C42Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100172
Gene: ENSMUSG00000076570
AA Change: C42Y

DomainStartEndE-ValueType
low complexity region 7 15 N/A INTRINSIC
IGv 37 109 2.29e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198880
AA Change: C43Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142787
Gene: ENSMUSG00000076570
AA Change: C43Y

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGv 38 110 9.1e-24 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A T 12: 80,231,642 (GRCm39) V265E probably damaging Het
Anks1b A G 10: 90,480,389 (GRCm39) I865V probably benign Het
Car5a G A 8: 122,650,349 (GRCm39) A182V probably benign Het
Ccdc47 A G 11: 106,096,277 (GRCm39) V249A probably damaging Het
Cyb561d2 A G 9: 107,418,722 (GRCm39) V34A probably damaging Het
Dmbt1 A G 7: 130,676,149 (GRCm39) probably benign Het
Entpd6 G A 2: 150,612,612 (GRCm39) D445N possibly damaging Het
Fastkd2 A G 1: 63,771,320 (GRCm39) I225M probably benign Het
Flcn A G 11: 59,685,996 (GRCm39) V424A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpn3 A G 5: 122,519,328 (GRCm39) M176V probably benign Het
Oas1h A G 5: 121,000,852 (GRCm39) probably null Het
Rexo1 A T 10: 80,378,845 (GRCm39) Y1064N possibly damaging Het
Skint1 G A 4: 111,867,878 (GRCm39) G2R probably damaging Het
Slc4a9 G A 18: 36,662,760 (GRCm39) A172T possibly damaging Het
Synpo2 A G 3: 122,906,146 (GRCm39) S727P probably damaging Het
Tmem131 A T 1: 36,862,237 (GRCm39) probably benign Het
Trpm3 G T 19: 22,689,083 (GRCm39) R4L probably damaging Het
Upf1 A T 8: 70,786,880 (GRCm39) V879E possibly damaging Het
Vmn1r194 A T 13: 22,428,776 (GRCm39) Y131F probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r95 T A 17: 18,671,737 (GRCm39) N491K probably damaging Het
Other mutations in Igkv12-38
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4729:Igkv12-38 UTSW 6 69,920,368 (GRCm39) missense possibly damaging 0.71
R8802:Igkv12-38 UTSW 6 69,920,390 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07