Incidental Mutation 'R5295:Ighv1-77'
Institutional Source Beutler Lab
Gene Symbol Ighv1-77
Ensembl Gene ENSMUSG00000096452
Gene Nameimmunoglobulin heavy variable 1-77
MMRRC Submission 042878-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #R5295 (G1)
Quality Score225
Status Not validated
Chromosomal Location115861867-115862160 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 115861908 bp
Amino Acid Change Serine to Cysteine at position 104 (S104C)
Ref Sequence ENSEMBL: ENSMUSP00000143684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170551] [ENSMUST00000198777]
Predicted Effect probably damaging
Transcript: ENSMUST00000170551
AA Change: S85C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126332
Gene: ENSMUSG00000096452
AA Change: S85C

IGv 17 98 6.47e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198777
AA Change: S104C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143684
Gene: ENSMUSG00000096452
AA Change: S104C

signal peptide 1 19 N/A INTRINSIC
IGv 36 117 2.7e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199258
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C T 18: 65,305,038 E1095K probably damaging Het
Alpl T C 4: 137,749,608 T245A probably benign Het
Ank2 T C 3: 127,032,183 H378R probably damaging Het
Arhgef1 G A 7: 24,919,352 probably null Het
Atp5c1 T C 2: 10,068,733 R10G possibly damaging Het
Cbln3 T C 14: 55,883,463 probably null Het
Ccr10 C T 11: 101,174,285 V140M possibly damaging Het
Cep135 T A 5: 76,593,204 H42Q possibly damaging Het
Commd5 C A 15: 76,900,952 T183K possibly damaging Het
Dnajc16 T C 4: 141,767,928 E493G possibly damaging Het
Ears2 T C 7: 122,048,198 R288G probably damaging Het
Elovl4 G A 9: 83,780,661 P273L possibly damaging Het
Fam186b T A 15: 99,283,874 I148F probably damaging Het
Fryl T C 5: 73,112,791 Y79C probably damaging Het
Gad1-ps A G 10: 99,444,889 noncoding transcript Het
Gm14325 G A 2: 177,832,984 H102Y possibly damaging Het
Gm8882 T G 6: 132,361,877 Q126P unknown Het
Kcnv1 T C 15: 45,114,591 D17G unknown Het
Lmtk3 G A 7: 45,791,298 D243N probably damaging Het
Lrrc7 T A 3: 158,170,739 K571N probably damaging Het
Lsm7 T C 10: 80,854,620 E32G probably damaging Het
Ly6f A G 15: 75,271,639 Q65R probably benign Het
Perm1 T C 4: 156,217,518 L173P probably benign Het
Plvap T C 8: 71,511,670 Q16R probably benign Het
Prl7d1 A T 13: 27,709,247 V227D probably damaging Het
Prss54 T C 8: 95,564,478 T165A probably damaging Het
Psrc1 A G 3: 108,386,359 I195V probably benign Het
Rnf123 AT ATT 9: 108,064,003 probably null Het
Rnf213 A T 11: 119,440,816 T2284S probably benign Het
Serpina3c T C 12: 104,148,378 E333G probably damaging Het
Serpinb6c A G 13: 33,893,817 F190S probably damaging Het
Sfmbt1 G A 14: 30,774,029 D90N probably damaging Het
Tdh T C 14: 63,496,109 Y110C probably damaging Het
Tdrd9 T A 12: 112,051,912 L1255* probably null Het
Vps51 T G 19: 6,071,033 E283D probably benign Het
Zbtb2 T C 10: 4,368,508 K506R probably damaging Het
Zmiz1 T C 14: 25,656,347 L800P probably damaging Het
Znhit6 A G 3: 145,600,493 D251G probably benign Het
Other mutations in Ighv1-77
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5034:Ighv1-77 UTSW 12 115861874 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-07-22