Incidental Mutation 'R9121:Ighv1-56'
ID 692792
Institutional Source Beutler Lab
Gene Symbol Ighv1-56
Ensembl Gene ENSMUSG00000094862
Gene Name immunoglobulin heavy variable 1-56
Synonyms Gm16791
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R9121 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 115206422-115206715 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115206634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 47 (T47S)
Ref Sequence ENSEMBL: ENSMUSP00000141979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103527] [ENSMUST00000194071]
AlphaFold A0A075B5W7
Predicted Effect probably benign
Transcript: ENSMUST00000103527
AA Change: T28S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000100308
Gene: ENSMUSG00000094862
AA Change: T28S

DomainStartEndE-ValueType
IGv 17 98 3.42e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194071
AA Change: T47S

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141979
Gene: ENSMUSG00000094862
AA Change: T47S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 1.4e-31 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A T 13: 68,820,078 (GRCm39) N720K probably benign Het
Ampd1 C T 3: 103,005,998 (GRCm39) Q603* probably null Het
Arap2 G A 5: 62,906,326 (GRCm39) T231M possibly damaging Het
Atp2b4 TCT TCTGCT 1: 133,629,463 (GRCm39) probably benign Het
Cap1 C T 4: 122,761,516 (GRCm39) R122Q probably damaging Het
Cdh10 G A 15: 19,011,074 (GRCm39) V586M probably damaging Het
Clvs2 A T 10: 33,389,331 (GRCm39) V303E possibly damaging Het
Cnnm3 C A 1: 36,563,158 (GRCm39) C707* probably null Het
Crtc3 A G 7: 80,242,323 (GRCm39) F497L probably damaging Het
Csmd3 T C 15: 47,683,774 (GRCm39) Y949C Het
D5Ertd579e A T 5: 36,772,778 (GRCm39) I539N probably damaging Het
Dctpp1 T C 7: 126,856,456 (GRCm39) R89G probably damaging Het
Dnah7c T A 1: 46,704,650 (GRCm39) V2221E probably damaging Het
Dnah7c C A 1: 46,816,896 (GRCm39) L3628I probably benign Het
E030025P04Rik A G 11: 109,034,738 (GRCm39) F50S unknown Het
Edrf1 CGG CG 7: 133,258,770 (GRCm39) probably null Het
Epb41l1 T G 2: 156,364,487 (GRCm39) S999A probably benign Het
Fbxw10 T A 11: 62,738,153 (GRCm39) C16S possibly damaging Het
Fbxw19 G A 9: 109,324,890 (GRCm39) P9L probably damaging Het
Gpi1 A T 7: 33,907,114 (GRCm39) Y327N probably damaging Het
Hook3 A G 8: 26,525,195 (GRCm39) L637P probably damaging Het
Idh3a T C 9: 54,493,829 (GRCm39) probably null Het
Iglc2 A C 16: 19,017,294 (GRCm39) C103G probably damaging Het
Mbd5 A G 2: 49,148,102 (GRCm39) T771A possibly damaging Het
Mcm2 C A 6: 88,861,019 (GRCm39) R893L probably benign Het
Mettl15 A T 2: 109,104,948 (GRCm39) V19E Het
Mier2 G A 10: 79,377,594 (GRCm39) A453V Het
Mlf1 T C 3: 67,307,054 (GRCm39) S255P probably benign Het
Obsl1 T C 1: 75,482,636 (GRCm39) D78G possibly damaging Het
Or5w14 T A 2: 87,541,975 (GRCm39) I92F probably damaging Het
Or8b55 T A 9: 38,726,976 (GRCm39) M59K probably damaging Het
Otof T C 5: 30,536,462 (GRCm39) K1340E probably benign Het
Pla2g4c A G 7: 13,091,010 (GRCm39) D589G probably damaging Het
Qrfpr A G 3: 36,235,156 (GRCm39) V278A probably damaging Het
Qrich2 T A 11: 116,347,272 (GRCm39) H1184L unknown Het
Rnaset2a A G 17: 8,347,549 (GRCm39) F250S possibly damaging Het
Sfrp5 T C 19: 42,190,356 (GRCm39) Y32C probably damaging Het
Slc44a3 A G 3: 121,254,786 (GRCm39) S611P probably benign Het
Slco1a1 C A 6: 141,892,542 (GRCm39) probably benign Het
Synj2 A T 17: 6,040,599 (GRCm39) D225V probably damaging Het
Tacc1 G T 8: 25,659,255 (GRCm39) S570R probably damaging Het
Trim7 T A 11: 48,740,674 (GRCm39) L257Q probably damaging Het
Trpm8 T A 1: 88,312,423 (GRCm39) N1101K probably benign Het
Unc79 C T 12: 102,968,095 (GRCm39) T107M probably damaging Het
Usp54 A G 14: 20,631,523 (GRCm39) probably null Het
Zzef1 T A 11: 72,756,946 (GRCm39) Y1150* probably null Het
Other mutations in Ighv1-56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Ighv1-56 APN 12 115,206,417 (GRCm39) unclassified probably benign
R4378:Ighv1-56 UTSW 12 115,206,568 (GRCm39) missense probably benign 0.00
R7816:Ighv1-56 UTSW 12 115,206,846 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCACAGAAATAGACCGCAG -3'
(R):5'- TGTCAGTAACTGCAGGTAAGGG -3'

Sequencing Primer
(F):5'- TAGACCGCAGAGTCCTCAGATG -3'
(R):5'- GTAAGGGGCTCACCTGTTCAAAATC -3'
Posted On 2021-12-30