Incidental Mutation 'IGL01096:Igkv9-123'
ID51301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv9-123
Ensembl Gene ENSMUSG00000076512
Gene Nameimmunoglobulin kappa variable 9-123
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL01096
Quality Score
Status
Chromosome6
Chromosomal Location67954230-67954690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67954465 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 39 (D39G)
Ref Sequence ENSEMBL: ENSMUSP00000100114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103313]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103313
AA Change: D39G

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100114
Gene: ENSMUSG00000076512
AA Change: D39G

DomainStartEndE-ValueType
IGv 40 112 2.16e-17 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A T 8: 95,039,593 M351L possibly damaging Het
Alk T C 17: 71,921,896 K725E possibly damaging Het
Dspp T A 5: 104,175,367 H125Q possibly damaging Het
Elmo2 A T 2: 165,296,987 probably benign Het
Erg A G 16: 95,390,053 probably benign Het
Fam20c A G 5: 138,809,155 E513G possibly damaging Het
Gatsl3 A C 11: 4,221,850 E309A probably damaging Het
Gm9839 G T 1: 32,520,836 T55N possibly damaging Het
Gpd2 A T 2: 57,338,867 M228L probably damaging Het
Hp A T 8: 109,575,401 M305K probably benign Het
Ifng T A 10: 118,445,269 probably benign Het
Melk T A 4: 44,347,262 F431I probably benign Het
Olfr1180 A G 2: 88,411,791 M289T probably damaging Het
Olfr1335 A G 4: 118,809,456 V136A probably damaging Het
Olfr536 A T 7: 140,504,184 S92T probably damaging Het
Olfr639 A C 7: 104,012,114 L196W probably damaging Het
Olfr944 G A 9: 39,218,116 G253D probably damaging Het
Pappa T C 4: 65,189,316 Y655H probably damaging Het
Prss58 A T 6: 40,895,465 I208N probably damaging Het
Ryr2 T A 13: 11,703,544 I2720F probably damaging Het
Slc13a1 G T 6: 24,104,077 T322K probably damaging Het
Spag17 T C 3: 100,063,375 F1292L probably benign Het
Tbx5 A G 5: 119,883,026 T366A probably benign Het
Tmeff2 G A 1: 50,930,546 probably benign Het
Tmem101 C A 11: 102,154,552 probably null Het
Tpp2 C A 1: 43,960,888 P389T probably damaging Het
Tyk2 A G 9: 21,108,863 Y1000H probably damaging Het
Ush2a C A 1: 188,678,377 N2407K probably damaging Het
Vmn1r94 C T 7: 20,167,636 V248I probably damaging Het
Vmn2r12 T A 5: 109,086,259 I696F probably damaging Het
Vmn2r83 A G 10: 79,477,828 E90G probably damaging Het
Washc5 T C 15: 59,350,211 probably benign Het
Wee2 A G 6: 40,463,253 E445G probably benign Het
Zfp518b T C 5: 38,672,788 T625A probably benign Het
Other mutations in Igkv9-123
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Igkv9-123 APN 6 67954534 splice site probably benign
IGL02934:Igkv9-123 APN 6 67954396 missense possibly damaging 0.80
R7329:Igkv9-123 UTSW 6 67954645 missense possibly damaging 0.68
R7530:Igkv9-123 UTSW 6 67954397 missense possibly damaging 0.95
Posted On2013-06-21