Incidental Mutation 'IGL02589:Igkv3-9'
ID299643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv3-9
Ensembl Gene ENSMUSG00000095338
Gene Nameimmunoglobulin kappa variable 3-9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL02589
Quality Score
Status
Chromosome6
Chromosomal Location70588189-70588777 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70588699 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 94 (D94G)
Ref Sequence ENSEMBL: ENSMUSP00000100199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103398]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103398
AA Change: D94G

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100199
Gene: ENSMUSG00000095338
AA Change: D94G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 114 8.17e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197635
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410015M20Rik T C 17: 56,608,856 E66G probably benign Het
5430403G16Rik T A 5: 109,678,520 H62L possibly damaging Het
A2ml1 T G 6: 128,581,500 I5L probably benign Het
Ang6 A G 14: 44,001,962 I103T possibly damaging Het
Arhgdib A G 6: 136,933,578 probably benign Het
Atp13a2 C T 4: 141,006,411 T1037M probably damaging Het
Bptf T C 11: 107,111,531 N252D possibly damaging Het
Capn2 T C 1: 182,484,348 Y387C probably damaging Het
Cdc27 T G 11: 104,505,644 D817A probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntnap3 T G 13: 64,792,430 I318L probably benign Het
Cog6 A T 3: 53,007,270 L255Q probably damaging Het
Ect2l T A 10: 18,140,594 probably benign Het
Ercc5 T C 1: 44,164,049 V282A probably damaging Het
Fras1 A G 5: 96,769,513 D3464G probably damaging Het
Gabrg1 A T 5: 70,842,152 L18* probably null Het
Ggcx T C 6: 72,429,148 Y586H probably damaging Het
Gm5796 A T 14: 4,033,828 K24* probably null Het
Gnb4 C T 3: 32,589,849 V187M probably damaging Het
Gpt2 C T 8: 85,516,166 Q276* probably null Het
Idnk G T 13: 58,163,425 probably benign Het
Ipo8 C A 6: 148,809,907 L294F probably damaging Het
Itgad A T 7: 128,181,711 D157V probably damaging Het
Kcnab3 A T 11: 69,332,102 I392L probably benign Het
Kdm3b A G 18: 34,812,418 S761G possibly damaging Het
Kif21a G A 15: 90,985,286 T454M probably damaging Het
Lta4h A G 10: 93,474,931 N441S probably benign Het
Man2a1 A G 17: 64,679,778 E595G probably benign Het
Mvd T C 8: 122,438,034 probably benign Het
Notch2 A G 3: 98,104,347 probably null Het
Phf20l1 G T 15: 66,615,632 probably benign Het
Rdm1 A G 11: 101,628,005 S13G possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scn4a G T 11: 106,328,132 D953E probably benign Het
Sh2b1 A G 7: 126,469,268 I457T probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tagap C A 17: 7,933,672 T563K possibly damaging Het
Ugt1a7c T C 1: 88,095,638 I173T probably benign Het
Unc79 C T 12: 103,173,496 A2370V probably damaging Het
Vmn2r102 T A 17: 19,681,218 C536S probably damaging Het
Vmn2r53 G A 7: 12,581,945 T649I possibly damaging Het
Whrn G A 4: 63,418,097 Q301* probably null Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Igkv3-9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02007:Igkv3-9 APN 6 70588461 splice site probably benign
R2509:Igkv3-9 UTSW 6 70588744 missense probably benign 0.03
R4411:Igkv3-9 UTSW 6 70588563 missense probably damaging 0.97
R5498:Igkv3-9 UTSW 6 70588743 missense probably benign
R7302:Igkv3-9 UTSW 6 70588755 missense probably benign 0.01
R7487:Igkv3-9 UTSW 6 70588522 missense probably damaging 0.99
Posted On2015-04-16