Incidental Mutation 'R3921:Ighv1-43'
ID 315747
Institutional Source Beutler Lab
Gene Symbol Ighv1-43
Ensembl Gene ENSMUSG00000095859
Gene Name immunoglobulin heavy variable V1-43
Synonyms
MMRRC Submission 040818-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R3921 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 114909570-114909863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 114909772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 50 (G50V)
Ref Sequence ENSEMBL: ENSMUSP00000142065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103517] [ENSMUST00000195417]
AlphaFold A0A075B5V7
Predicted Effect probably benign
Transcript: ENSMUST00000103517
AA Change: G31V

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100298
Gene: ENSMUSG00000095859
AA Change: G31V

DomainStartEndE-ValueType
IGv 17 98 3.36e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195417
AA Change: G50V

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142065
Gene: ENSMUSG00000095859
AA Change: G50V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 1.4e-30 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,498 (GRCm39) L317Q probably damaging Het
Aebp2 C T 6: 140,579,461 (GRCm39) R11C probably damaging Het
Anxa8 T C 14: 33,816,403 (GRCm39) F201L probably damaging Het
Armh4 A G 14: 50,011,659 (GRCm39) F16S probably benign Het
Bcl7a A G 5: 123,509,136 (GRCm39) N206S probably benign Het
Birc6 A G 17: 74,934,014 (GRCm39) N2542D probably damaging Het
Cubn A G 2: 13,331,488 (GRCm39) Y2562H probably damaging Het
Dnah12 C G 14: 26,493,008 (GRCm39) D1256E probably damaging Het
Dnajb14 A T 3: 137,610,613 (GRCm39) R280S probably damaging Het
Dop1a A T 9: 86,402,324 (GRCm39) I1173F probably benign Het
Fam228a T C 12: 4,781,506 (GRCm39) T118A probably benign Het
Gata2 TGCCATGGGCTAGGCAAGCC TGCC 6: 88,182,464 (GRCm39) probably null Het
Hif3a T C 7: 16,771,097 (GRCm39) D618G possibly damaging Het
Lrrc37a G T 11: 103,392,296 (GRCm39) T1043N probably benign Het
Masp2 T A 4: 148,690,188 (GRCm39) D232E possibly damaging Het
Ms4a4a A C 19: 11,356,172 (GRCm39) Q19P probably benign Het
Nckipsd A G 9: 108,691,275 (GRCm39) E399G possibly damaging Het
Nnt T A 13: 119,503,030 (GRCm39) T572S probably damaging Het
Olig3 A G 10: 19,232,423 (GRCm39) D16G probably damaging Het
Or4a74 C T 2: 89,439,853 (GRCm39) V198I probably benign Het
Or5p57 T A 7: 107,665,108 (GRCm39) D299V possibly damaging Het
Polr2b T C 5: 77,474,500 (GRCm39) Y446H probably damaging Het
Prtg T C 9: 72,755,629 (GRCm39) V277A probably damaging Het
Rnf31 T C 14: 55,838,599 (GRCm39) Y857H probably damaging Het
Serac1 T C 17: 6,117,067 (GRCm39) D163G probably damaging Het
Slc22a22 C A 15: 57,119,940 (GRCm39) V197F probably benign Het
Slc2a10 C T 2: 165,357,521 (GRCm39) P394S probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
St7 A G 6: 17,846,244 (GRCm39) N120D probably benign Het
Sult2a6 C T 7: 13,988,668 (GRCm39) V31M possibly damaging Het
Taf3 T C 2: 10,053,109 (GRCm39) T35A probably benign Het
Tmem131l A G 3: 83,847,908 (GRCm39) I319T possibly damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l T TTGGATG 15: 10,537,649 (GRCm39) probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Vmn2r9 T G 5: 108,996,921 (GRCm39) Y116S probably benign Het
Vstm2l A G 2: 157,777,283 (GRCm39) T54A probably benign Het
Xrn1 T A 9: 95,851,337 (GRCm39) M153K probably benign Het
Zfp106 G A 2: 120,364,097 (GRCm39) P770L probably damaging Het
Other mutations in Ighv1-43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Ighv1-43 APN 12 114,909,715 (GRCm39) missense probably benign
IGL01817:Ighv1-43 APN 12 114,909,714 (GRCm39) missense probably benign
IGL02862:Ighv1-43 APN 12 114,909,859 (GRCm39) missense probably damaging 0.98
IGL03379:Ighv1-43 APN 12 114,909,625 (GRCm39) missense probably benign 0.41
R4270:Ighv1-43 UTSW 12 114,909,772 (GRCm39) missense probably benign 0.00
R4753:Ighv1-43 UTSW 12 114,909,762 (GRCm39) missense probably benign 0.00
R4977:Ighv1-43 UTSW 12 114,909,845 (GRCm39) missense possibly damaging 0.95
R5949:Ighv1-43 UTSW 12 114,910,002 (GRCm39) start codon destroyed probably null 0.22
R5977:Ighv1-43 UTSW 12 114,909,829 (GRCm39) missense probably benign 0.07
R7889:Ighv1-43 UTSW 12 114,909,583 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGGCTCTTGAGCTGCATG -3'
(R):5'- CTAACTATGGAATGGAGCTGGG -3'

Sequencing Primer
(F):5'- CTCTTGAGCTGCATGTAGGC -3'
(R):5'- CTCCTGTCAGTAACTACAGGTAAGG -3'
Posted On 2015-05-15