Incidental Mutation 'R3080:Ighv5-6'
Institutional Source Beutler Lab
Gene Symbol Ighv5-6
Ensembl Gene ENSMUSG00000094951
Gene Nameimmunoglobulin heavy variable 5-6
MMRRC Submission 040570-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #R3080 (G1)
Quality Score225
Status Not validated
Chromosomal Location113625506-113625956 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113625617 bp
Amino Acid Change Aspartic acid to Valine at position 81 (D81V)
Ref Sequence ENSEMBL: ENSMUSP00000100227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103446]
Predicted Effect probably damaging
Transcript: ENSMUST00000103446
AA Change: D81V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100227
Gene: ENSMUSG00000094951
AA Change: D81V

IGv 36 117 2.61e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195021
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amer3 T G 1: 34,588,422 L581V probably benign Het
Anks4b A T 7: 120,181,923 D59V probably damaging Het
Cdc42bpb A G 12: 111,295,818 I75T probably damaging Het
Ces1c A C 8: 93,120,347 L93R probably damaging Het
Clca4a T A 3: 144,963,790 K333N probably damaging Het
Copa G T 1: 172,113,149 D710Y probably damaging Het
Cyp3a25 T A 5: 145,998,531 I92F probably benign Het
Dcx T A X: 143,923,270 D175V probably damaging Het
Fam76b G A 9: 13,833,162 G185D probably benign Het
Fam96b G C 8: 104,641,627 R22G possibly damaging Het
Fastkd5 T C 2: 130,615,453 M406V possibly damaging Het
Fbn2 G A 18: 58,149,050 S298L probably damaging Het
Gak T C 5: 108,613,602 K188E possibly damaging Het
Gemin2 G A 12: 59,025,091 C230Y probably damaging Het
Gm5150 A C 3: 15,990,921 S47A possibly damaging Het
Herc3 A T 6: 58,856,646 probably null Het
Hist1h3b A G 13: 23,752,498 H40R possibly damaging Het
Igkv13-54-1 A G 6: 69,617,470 probably null Het
Itgad T C 7: 128,185,787 I288T possibly damaging Het
Krt1 C T 15: 101,846,187 G543S unknown Het
Ltbp3 GTA GTATA 19: 5,756,888 probably null Het
Map4k2 G A 19: 6,353,188 E774K probably damaging Het
Mbtps1 A G 8: 119,531,205 V431A probably benign Het
Mbtps1 T C 8: 119,538,863 D315G probably damaging Het
Nebl A G 2: 17,376,651 V738A possibly damaging Het
Npr3 G C 15: 11,905,149 T164R probably benign Het
Olfr115 T C 17: 37,610,278 T158A probably benign Het
Olfr214 T G 6: 116,557,217 V264G probably damaging Het
Pcdhb3 T G 18: 37,301,482 L167R probably damaging Het
Pcdhb8 A T 18: 37,356,166 E299V probably damaging Het
Shcbp1l A G 1: 153,436,037 E312G possibly damaging Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slc1a2 T G 2: 102,748,556 L272R probably damaging Het
Slc35a5 A T 16: 45,144,395 S152T probably benign Het
Tas2r136 C A 6: 132,778,009 V52L probably damaging Het
Tbr1 C T 2: 61,807,291 Q65* probably null Het
Tro G A X: 150,655,202 T153I probably benign Het
Vmn1r222 A G 13: 23,232,461 M194T possibly damaging Het
Vmn2r1 A G 3: 64,089,784 D287G probably damaging Het
Vmn2r91 T G 17: 18,135,711 probably null Het
Zfp35 T A 18: 24,003,310 I237N probably damaging Het
Other mutations in Ighv5-6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02956:Ighv5-6 APN 12 113625903 splice site probably benign
R1567:Ighv5-6 UTSW 12 113625908 splice site probably benign
R3079:Ighv5-6 UTSW 12 113625617 missense probably damaging 1.00
R4484:Ighv5-6 UTSW 12 113625588 nonsense probably null
R5629:Ighv5-6 UTSW 12 113625622 nonsense probably null
R7070:Ighv5-6 UTSW 12 113625809 missense probably damaging 1.00
Predicted Primers
Posted On2017-05-15