Incidental Mutation 'IGL02650:Igkv4-86'
ID 302097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv4-86
Ensembl Gene ENSMUSG00000076536
Gene Name immunoglobulin kappa variable 4-86
Synonyms LOC243451
Accession Numbers
Essential gene? Not available question?
Stock # IGL02650
Quality Score
Status
Chromosome 6
Chromosomal Location 68887395-68887922 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68887617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 40 (I40V)
Ref Sequence ENSEMBL: ENSMUSP00000100138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103337] [ENSMUST00000200454]
AlphaFold A0A075B5L5
Predicted Effect probably benign
Transcript: ENSMUST00000103337
AA Change: I40V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000100138
Gene: ENSMUSG00000076536
AA Change: I40V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 37 108 2.16e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199583
Predicted Effect probably benign
Transcript: ENSMUST00000200454
AA Change: I41V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143537
Gene: ENSMUSG00000076536
AA Change: I41V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 109 9.3e-20 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,571,881 (GRCm39) T586A probably benign Het
Acads G T 5: 115,250,874 (GRCm39) T141N probably benign Het
Ankmy1 C T 1: 92,808,745 (GRCm39) R721H probably damaging Het
Appl1 A G 14: 26,672,665 (GRCm39) V236A possibly damaging Het
Arhgef5 C T 6: 43,249,869 (GRCm39) Q207* probably null Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp6v0a2 G T 5: 124,789,426 (GRCm39) probably benign Het
Cenpf T C 1: 189,384,670 (GRCm39) K2537E possibly damaging Het
Cox7a1 A T 7: 29,884,562 (GRCm39) E32V possibly damaging Het
Dis3 A T 14: 99,336,221 (GRCm39) M95K probably benign Het
Dnah5 A T 15: 28,289,193 (GRCm39) probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Dynlt5 C A 4: 102,845,803 (GRCm39) Q12K probably benign Het
Ghsr A T 3: 27,429,004 (GRCm39) Q343L probably benign Het
Gm3252 T A 14: 4,746,353 (GRCm38) V215E probably damaging Het
Gm9979 A G 13: 40,859,225 (GRCm39) noncoding transcript Het
Grik2 A T 10: 48,977,331 (GRCm39) M867K probably benign Het
Grm7 A G 6: 111,335,919 (GRCm39) T777A probably damaging Het
Hc T A 2: 34,890,886 (GRCm39) Q1310L possibly damaging Het
Ifi44 A G 3: 151,451,492 (GRCm39) F205L probably damaging Het
Jag1 T C 2: 136,957,505 (GRCm39) D69G possibly damaging Het
Lrch1 T C 14: 75,051,138 (GRCm39) D333G probably damaging Het
Mapre3 T A 5: 31,022,053 (GRCm39) I187N probably damaging Het
Myo15b T C 11: 115,777,337 (GRCm39) probably null Het
Nanos2 C T 7: 18,721,794 (GRCm39) P89S probably damaging Het
Or4c109 T A 2: 88,818,424 (GRCm39) M41L probably benign Het
Parp16 G A 9: 65,141,098 (GRCm39) V223I probably damaging Het
Rnf123 A G 9: 107,946,947 (GRCm39) M231T probably benign Het
Suco C A 1: 161,676,322 (GRCm39) probably benign Het
Synj1 G T 16: 90,773,584 (GRCm39) T459N probably benign Het
Taf4b C T 18: 14,975,040 (GRCm39) Q732* probably null Het
Tas2r102 A G 6: 132,739,173 (GRCm39) N27S probably null Het
Tll1 C T 8: 64,500,031 (GRCm39) probably benign Het
Vmn1r168 A G 7: 23,240,916 (GRCm39) I258V probably benign Het
Vmn2r71 T A 7: 85,273,535 (GRCm39) M783K probably damaging Het
Vmn2r98 G A 17: 19,301,223 (GRCm39) V742I probably benign Het
Other mutations in Igkv4-86
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5580:Igkv4-86 UTSW 6 68,887,990 (GRCm39) unclassified probably benign
R5611:Igkv4-86 UTSW 6 68,887,659 (GRCm39) missense probably damaging 1.00
R7763:Igkv4-86 UTSW 6 68,887,563 (GRCm39) missense probably benign 0.00
R8130:Igkv4-86 UTSW 6 68,887,650 (GRCm39) missense probably benign 0.03
R9644:Igkv4-86 UTSW 6 68,887,593 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16