Incidental Mutation 'IGL02929:Igkv6-25'
ID 364016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igkv6-25
Ensembl Gene ENSMUSG00000094930
Gene Name immunoglobulin kappa chain variable 6-25
Synonyms Gm16943
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL02929
Quality Score
Status
Chromosome 6
Chromosomal Location 70192417-70192941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70192929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 112 (Y112C)
Ref Sequence ENSEMBL: ENSMUSP00000100184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103383] [ENSMUST00000103384]
AlphaFold A0A140T8N7
Predicted Effect probably damaging
Transcript: ENSMUST00000103383
AA Change: Y112C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100184
Gene: ENSMUSG00000094930
AA Change: Y112C

DomainStartEndE-ValueType
IGv 38 110 3.24e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103384
SMART Domains Protein: ENSMUSP00000100185
Gene: ENSMUSG00000076583

DomainStartEndE-ValueType
IGv 38 116 1.21e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196786
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik A G 5: 130,413,252 (GRCm39) probably null Het
Abcb5 T C 12: 118,908,674 (GRCm39) Y90C probably damaging Het
Accs T C 2: 93,674,566 (GRCm39) D112G probably damaging Het
Adam32 C A 8: 25,362,659 (GRCm39) V13L possibly damaging Het
Adgrb3 A G 1: 25,592,905 (GRCm39) V294A probably benign Het
Agt G T 8: 125,283,829 (GRCm39) A430E probably benign Het
Agxt2 T C 15: 10,388,379 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,056,116 (GRCm39) I235N probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Atrx T C X: 104,923,512 (GRCm39) probably null Het
Brcc3 T C X: 74,479,105 (GRCm39) V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,892,115 (GRCm39) V286D probably damaging Het
Cpb1 T C 3: 20,329,630 (GRCm39) D32G probably benign Het
Cpsf1 C A 15: 76,486,327 (GRCm39) probably null Het
Dnai4 C T 4: 102,917,188 (GRCm39) W552* probably null Het
Dock2 A T 11: 34,218,048 (GRCm39) V1174E probably damaging Het
Dqx1 A G 6: 83,037,465 (GRCm39) probably benign Het
Ercc1 T C 7: 19,089,288 (GRCm39) probably null Het
Fn1 A G 1: 71,634,821 (GRCm39) probably null Het
Garre1 A T 7: 33,944,507 (GRCm39) M75K possibly damaging Het
Ice1 A G 13: 70,744,322 (GRCm39) L2087P probably damaging Het
Ift122 A G 6: 115,879,838 (GRCm39) D612G probably damaging Het
Kit C A 5: 75,801,429 (GRCm39) P572Q probably damaging Het
Kras A G 6: 145,177,815 (GRCm39) probably benign Het
Ltv1 T C 10: 13,067,970 (GRCm39) K6R possibly damaging Het
Man1a C T 10: 53,801,531 (GRCm39) V443I probably benign Het
Mat2b A C 11: 40,575,540 (GRCm39) D154E probably benign Het
Mtrf1 A G 14: 79,640,273 (GRCm39) K143E probably benign Het
Myh13 A C 11: 67,257,991 (GRCm39) I95L probably damaging Het
Myo7b A T 18: 32,127,978 (GRCm39) D571E probably benign Het
Nek10 T A 14: 14,821,119 (GRCm38) D28E possibly damaging Het
Npm2 T A 14: 70,889,678 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plcb2 G A 2: 118,543,715 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,719,810 (GRCm39) M368T probably benign Het
Rnf123 G T 9: 107,946,275 (GRCm39) T300K probably benign Het
Sbspon A G 1: 15,954,069 (GRCm39) probably benign Het
Slc52a2 G A 15: 76,424,776 (GRCm39) C338Y probably benign Het
Tdrd6 T A 17: 43,940,604 (GRCm39) Q148L possibly damaging Het
Tle5 T A 10: 81,400,672 (GRCm39) probably null Het
Trpc3 T A 3: 36,692,623 (GRCm39) K790* probably null Het
Ushbp1 C T 8: 71,847,120 (GRCm39) A171T probably damaging Het
Usp32 T C 11: 84,879,198 (GRCm39) T1504A probably benign Het
Other mutations in Igkv6-25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Igkv6-25 APN 6 70,192,772 (GRCm39) missense possibly damaging 0.93
IGL02098:Igkv6-25 APN 6 70,192,719 (GRCm39) missense probably damaging 0.98
R4399:Igkv6-25 UTSW 6 70,192,694 (GRCm39) missense possibly damaging 0.70
R5030:Igkv6-25 UTSW 6 70,192,426 (GRCm39) nonsense probably null
R7161:Igkv6-25 UTSW 6 70,192,762 (GRCm39) nonsense probably null
RF003:Igkv6-25 UTSW 6 70,192,762 (GRCm39) nonsense probably null
RF004:Igkv6-25 UTSW 6 70,192,647 (GRCm39) frame shift probably null
Posted On 2015-12-18