Incidental Mutation 'R8686:Ighv1-84'
ID 662062
Institutional Source Beutler Lab
Gene Symbol Ighv1-84
Ensembl Gene ENSMUSG00000094940
Gene Name immunoglobulin heavy variable 1-84
MMRRC Submission 068541-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8686 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 115980702-115981134 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115980904 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 50 (D50G)
Ref Sequence ENSEMBL: ENSMUSP00000100332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103551]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000103551
AA Change: D50G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100332
Gene: ENSMUSG00000094940
AA Change: D50G

signal peptide 1 19 N/A INTRINSIC
IGv 36 117 7.04e-31 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik C T 9: 103,259,428 (GRCm38) A525T probably benign Het
Adam25 A G 8: 40,755,484 (GRCm38) T596A probably benign Het
Adamts6 A G 13: 104,313,699 (GRCm38) I303V probably damaging Het
Alpl A T 4: 137,743,801 (GRCm38) H341Q probably damaging Het
Cachd1 G A 4: 100,988,128 (GRCm38) R939H probably damaging Het
Ccdc114 A G 7: 45,947,692 (GRCm38) T456A probably benign Het
Cd22 G A 7: 30,870,069 (GRCm38) R541C probably benign Het
Cenpf A T 1: 189,659,604 (GRCm38) M660K probably benign Het
Cmya5 A T 13: 93,095,380 (GRCm38) S1067T possibly damaging Het
Col5a2 C T 1: 45,421,987 (GRCm38) G250D probably damaging Het
Cylc2 C T 4: 51,229,651 (GRCm38) T331M unknown Het
Dgka A G 10: 128,733,093 (GRCm38) M201T probably benign Het
Dnajc13 T C 9: 104,170,805 (GRCm38) I1804V probably benign Het
Dym T A 18: 75,286,683 (GRCm38) Y642N probably damaging Het
Efr3b A T 12: 4,000,886 (GRCm38) D26E probably damaging Het
Emilin1 A T 5: 30,917,696 (GRCm38) K427M possibly damaging Het
Fam187b T C 7: 30,977,234 (GRCm38) L56S probably benign Het
Fbxo18 C T 2: 11,755,658 (GRCm38) V694I probably benign Het
Fgd2 C T 17: 29,379,023 (GRCm38) T644I probably benign Het
G6pc T G 11: 101,374,707 (GRCm38) probably null Het
Gli2 A G 1: 118,836,687 (GRCm38) S1245P probably benign Het
Gm10696 T C 3: 94,176,120 (GRCm38) D128G probably benign Het
Gpr137b T C 13: 13,359,406 (GRCm38) Y355C Het
Impdh1 C A 6: 29,216,215 (GRCm38) probably benign Het
Irf4 A T 13: 30,761,450 (GRCm38) D393V possibly damaging Het
Kalrn A G 16: 34,360,935 (GRCm38) L111P probably damaging Het
Lrch3 T C 16: 32,981,853 (GRCm38) V58A possibly damaging Het
Lrif1 C T 3: 106,732,781 (GRCm38) T394I probably damaging Het
Map4k1 A G 7: 28,994,073 (GRCm38) T434A probably benign Het
Mcur1 G A 13: 43,541,717 (GRCm38) T327M probably damaging Het
Mettl7b A T 10: 128,960,607 (GRCm38) M111K possibly damaging Het
Myo9b G T 8: 71,334,322 (GRCm38) S716I probably benign Het
Nol10 T A 12: 17,369,771 (GRCm38) probably benign Het
Nos3 A G 5: 24,368,843 (GRCm38) T202A possibly damaging Het
Olfr128 T C 17: 37,924,277 (GRCm38) V237A probably benign Het
Olfr710 A C 7: 106,944,698 (GRCm38) M101R probably benign Het
Parp12 A T 6: 39,117,922 (GRCm38) S80T probably benign Het
Pde1a C T 2: 79,927,742 (GRCm38) V50I probably benign Het
Pfkl A T 10: 77,997,522 (GRCm38) probably null Het
Phkg1 A T 5: 129,866,215 (GRCm38) Y207N probably damaging Het
Pik3r4 A G 9: 105,658,529 (GRCm38) T640A possibly damaging Het
Pip5k1c C A 10: 81,311,993 (GRCm38) H411N probably damaging Het
Pla2g4e A G 2: 120,244,691 (GRCm38) S73P probably damaging Het
Polr2b T C 5: 77,335,663 (GRCm38) V662A probably damaging Het
Prss43 C T 9: 110,829,426 (GRCm38) R265C possibly damaging Het
Rap1b A T 10: 117,822,841 (GRCm38) V29D probably damaging Het
Rraga A G 4: 86,576,811 (GRCm38) E298G probably damaging Het
Rrp8 A T 7: 105,733,574 (GRCm38) I418N probably damaging Het
Siglecf T C 7: 43,355,606 (GRCm38) V420A probably benign Het
Snx14 T A 9: 88,415,693 (GRCm38) N174I probably damaging Het
Speer4e T C 5: 14,934,115 (GRCm38) N229S probably benign Het
Teddm3 A G 16: 21,152,935 (GRCm38) *295Q probably null Het
Tfap2c A G 2: 172,552,006 (GRCm38) D245G possibly damaging Het
Tfap2d A G 1: 19,108,284 (GRCm38) N191S probably benign Het
Unc80 A G 1: 66,612,268 (GRCm38) R1591G possibly damaging Het
Vmn1r116 T C 7: 20,872,691 (GRCm38) W146R probably damaging Het
Vps13b C G 15: 35,925,389 (GRCm38) S3823R probably damaging Het
Wiz T A 17: 32,367,847 (GRCm38) D163V probably damaging Het
Xylt1 G C 7: 117,381,359 (GRCm38) A61P unknown Het
Zfp521 A C 18: 13,845,644 (GRCm38) F571V probably damaging Het
Zfp664 T A 5: 124,886,069 (GRCm38) C176S possibly damaging Het
Zfyve26 T C 12: 79,287,453 (GRCm38) N264D probably benign Het
Other mutations in Ighv1-84
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02302:Ighv1-84 APN 12 115,980,929 (GRCm38) nonsense probably null
R6588:Ighv1-84 UTSW 12 115,980,751 (GRCm38) missense probably benign 0.00
R7459:Ighv1-84 UTSW 12 115,980,812 (GRCm38) missense probably benign 0.14
R7916:Ighv1-84 UTSW 12 115,980,989 (GRCm38) missense probably benign 0.10
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-03-08