Incidental Mutation 'IGL02303:Igkv5-37'
ID 287464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv5-37
Ensembl Gene ENSMUSG00000076571
Gene Name immunoglobulin kappa variable 5-37
Synonyms IgVk 23-37, LOC384417
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # IGL02303
Quality Score
Status
Chromosome 6
Chromosomal Location 69940296-69940845 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69940473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 57 (Q57L)
Ref Sequence ENSEMBL: ENSMUSP00000100173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103372]
AlphaFold A0A140T8N4
Predicted Effect probably damaging
Transcript: ENSMUST00000103372
AA Change: Q57L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100173
Gene: ENSMUSG00000076571
AA Change: Q57L

DomainStartEndE-ValueType
IGv 38 110 8.89e-19 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,045,376 (GRCm39) F319S probably damaging Het
Ap3b1 A G 13: 94,664,827 (GRCm39) D922G unknown Het
Bhlhe41 A T 6: 145,809,882 (GRCm39) H107Q probably damaging Het
Csmd2 C A 4: 128,262,801 (GRCm39) H662Q probably benign Het
Dnah8 T C 17: 30,932,021 (GRCm39) V1463A probably benign Het
Ebf3 A T 7: 136,911,094 (GRCm39) V140E probably benign Het
Havcr2 T A 11: 46,370,108 (GRCm39) probably benign Het
Hexb G A 13: 97,313,401 (GRCm39) A485V probably damaging Het
Ipo5 T A 14: 121,154,795 (GRCm39) S40T probably benign Het
Kcnj8 A G 6: 142,515,837 (GRCm39) M90T probably benign Het
Kif21b T A 1: 136,087,495 (GRCm39) L937Q probably damaging Het
Kmt2c A C 5: 25,515,155 (GRCm39) L2896R probably damaging Het
Ldlrap1 A T 4: 134,484,706 (GRCm39) I96N probably damaging Het
Leo1 A G 9: 75,353,281 (GRCm39) probably benign Het
Mbnl2 T C 14: 120,642,059 (GRCm39) M341T probably benign Het
Nfatc2 G A 2: 168,348,821 (GRCm39) R669* probably null Het
Nhlrc2 T A 19: 56,563,280 (GRCm39) V293E probably damaging Het
Or1e17 T C 11: 73,831,276 (GRCm39) F68S possibly damaging Het
Or2at1 A G 7: 99,417,179 (GRCm39) D270G possibly damaging Het
Or51ag1 A T 7: 103,155,295 (GRCm39) M286K probably benign Het
Or51ai2 A G 7: 103,586,770 (GRCm39) Q61R possibly damaging Het
Otoa T A 7: 120,732,147 (GRCm39) probably null Het
Pcnt T C 10: 76,278,393 (GRCm39) probably benign Het
Recql4 G T 15: 76,592,771 (GRCm39) Q307K possibly damaging Het
Sp140 T A 1: 85,570,730 (GRCm39) Y453* probably null Het
Sspo G A 6: 48,461,639 (GRCm39) V3600I possibly damaging Het
Sybu T C 15: 44,536,619 (GRCm39) E441G probably benign Het
Syne3 A T 12: 104,929,553 (GRCm39) H222Q probably damaging Het
Tef T C 15: 81,705,496 (GRCm39) V173A probably benign Het
Tlcd1 A G 11: 78,071,160 (GRCm39) probably null Het
Tmod4 C A 3: 95,032,953 (GRCm39) Q30K probably benign Het
Tpgs1 T C 10: 79,511,322 (GRCm39) Y155H probably damaging Het
Trib3 G A 2: 152,185,070 (GRCm39) P60S probably benign Het
Ttn T A 2: 76,560,550 (GRCm39) T20957S probably damaging Het
Vars1 T C 17: 35,234,460 (GRCm39) probably benign Het
Vps13c T C 9: 67,852,763 (GRCm39) probably benign Het
Zc3h4 T C 7: 16,168,002 (GRCm39) S704P unknown Het
Zfp644 G A 5: 106,785,180 (GRCm39) R456W probably damaging Het
Other mutations in Igkv5-37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Igkv5-37 APN 6 69,940,420 (GRCm39) missense probably damaging 0.96
IGL01936:Igkv5-37 APN 6 69,940,323 (GRCm39) missense probably damaging 1.00
IGL02138:Igkv5-37 APN 6 69,940,435 (GRCm39) missense probably damaging 0.99
R4740:Igkv5-37 UTSW 6 69,940,306 (GRCm39) missense probably damaging 1.00
R6149:Igkv5-37 UTSW 6 69,940,472 (GRCm39) missense probably damaging 0.99
R6539:Igkv5-37 UTSW 6 69,940,800 (GRCm39) missense probably benign 0.22
R7800:Igkv5-37 UTSW 6 69,940,499 (GRCm39) missense possibly damaging 0.83
R8193:Igkv5-37 UTSW 6 69,940,796 (GRCm39) critical splice donor site probably benign
R8197:Igkv5-37 UTSW 6 69,940,841 (GRCm39) missense possibly damaging 0.85
R8771:Igkv5-37 UTSW 6 69,940,423 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16