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
Chromosome 6
Chromosomal Location 69943186-69943648 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69943405 bp (GRCm38)
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

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

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: 80,184,868 V265E probably damaging Het
Anks1b A G 10: 90,644,527 I865V probably benign Het
Car5a G A 8: 121,923,610 A182V probably benign Het
Ccdc47 A G 11: 106,205,451 V249A probably damaging Het
Cyb561d2 A G 9: 107,541,523 V34A probably damaging Het
Dmbt1 A G 7: 131,074,419 probably benign Het
Entpd6 G A 2: 150,770,692 D445N possibly damaging Het
Fastkd2 A G 1: 63,732,161 I225M probably benign Het
Flcn A G 11: 59,795,170 V424A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gpn3 A G 5: 122,381,265 M176V probably benign Het
Oas1h A G 5: 120,862,789 probably null Het
Rexo1 A T 10: 80,543,011 Y1064N possibly damaging Het
Skint1 G A 4: 112,010,681 G2R probably damaging Het
Slc4a9 G A 18: 36,529,707 A172T possibly damaging Het
Synpo2 A G 3: 123,112,497 S727P probably damaging Het
Tmem131 A T 1: 36,823,156 probably benign Het
Trpm3 G T 19: 22,711,719 R4L probably damaging Het
Upf1 A T 8: 70,334,230 V879E possibly damaging Het
Vmn1r194 A T 13: 22,244,606 Y131F probably benign Het
Vmn2r95 T A 17: 18,451,475 N491K probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Igkv12-38
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4729:Igkv12-38 UTSW 6 69943384 missense possibly damaging 0.71
R8802:Igkv12-38 UTSW 6 69943406 missense probably damaging 1.00
Posted On 2014-05-07