Incidental Mutation 'R9151:Ighv1-82'
ID 695056
Institutional Source Beutler Lab
Gene Symbol Ighv1-82
Ensembl Gene ENSMUSG00000095127
Gene Name immunoglobulin heavy variable 1-82
Synonyms Gm16747
MMRRC Submission 068973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R9151 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 115916158-115916451 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 115916342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 56 (V56G)
Ref Sequence ENSEMBL: ENSMUSP00000142912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103549] [ENSMUST00000196991]
AlphaFold A0A0B4J1J7
Predicted Effect probably damaging
Transcript: ENSMUST00000103549
AA Change: V37G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100330
Gene: ENSMUSG00000095127
AA Change: V37G

DomainStartEndE-ValueType
IGv 17 98 7.04e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000196991
AA Change: V56G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142912
Gene: ENSMUSG00000095127
AA Change: V56G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 2.9e-33 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,188,908 (GRCm39) F850L probably benign Het
Adam1a A T 5: 121,657,411 (GRCm39) D627E probably damaging Het
Add2 C A 6: 86,081,459 (GRCm39) probably benign Het
Anpep T C 7: 79,491,785 (GRCm39) N72S probably benign Het
Aqp6 A G 15: 99,501,655 (GRCm39) T238A possibly damaging Het
Arhgef38 G T 3: 132,912,706 (GRCm39) T111K Het
Atg10 A G 13: 91,189,032 (GRCm39) Y93H probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cald1 A G 6: 34,732,682 (GRCm39) N286S unknown Het
Caps2 A T 10: 112,031,829 (GRCm39) I322F possibly damaging Het
Cbx3 T A 6: 51,455,533 (GRCm39) S95T probably benign Het
Ccdc24 T C 4: 117,727,102 (GRCm39) T83A unknown Het
Cntn1 T C 15: 92,140,864 (GRCm39) Y197H probably damaging Het
Cpd A G 11: 76,675,275 (GRCm39) I1282T possibly damaging Het
Crat A T 2: 30,295,052 (GRCm39) S454R probably damaging Het
D2hgdh G A 1: 93,754,338 (GRCm39) V126I probably benign Het
Dcst1 A G 3: 89,271,558 (GRCm39) V75A probably benign Het
Dnm1l T C 16: 16,176,668 (GRCm39) D21G probably benign Het
Evc2 A G 5: 37,504,823 (GRCm39) N74D probably benign Het
Gm19965 A T 1: 116,748,942 (GRCm39) M208L Het
Gprc6a T G 10: 51,497,182 (GRCm39) T454P possibly damaging Het
Gprin1 C T 13: 54,886,778 (GRCm39) V499M probably benign Het
Gtf3c5 A G 2: 28,463,577 (GRCm39) Y194H probably damaging Het
Hcn4 T C 9: 58,767,880 (GRCm39) V1147A possibly damaging Het
Ins2 T C 7: 142,232,505 (GRCm39) D93G possibly damaging Het
Itgb8 A G 12: 119,130,535 (GRCm39) S658P probably benign Het
Kcnmb1 T C 11: 33,920,263 (GRCm39) F159L probably benign Het
Klf1 C T 8: 85,629,954 (GRCm39) L260F probably benign Het
Larp4 T A 15: 99,888,205 (GRCm39) S140T possibly damaging Het
Maneal C A 4: 124,755,542 (GRCm39) R140L probably benign Het
Mfsd11 T A 11: 116,750,323 (GRCm39) V114D Het
Muc4 A G 16: 32,752,617 (GRCm38) T832A probably benign Het
Myh11 T G 16: 14,050,439 (GRCm39) I509L Het
Myh13 A T 11: 67,252,149 (GRCm39) E1419V probably damaging Het
Myh7b A G 2: 155,474,439 (GRCm39) E1718G probably damaging Het
Myo9b T A 8: 71,807,871 (GRCm39) probably benign Het
Notch1 A T 2: 26,367,939 (GRCm39) L656Q probably benign Het
Nova1 A G 12: 46,746,813 (GRCm39) I488T probably damaging Het
Or51r1 A T 7: 102,228,500 (GRCm39) E266V probably damaging Het
Or5b113 A T 19: 13,342,222 (GRCm39) T77S possibly damaging Het
Or5b21 A G 19: 12,839,976 (GRCm39) Y279C probably damaging Het
Or5d18 A G 2: 87,864,697 (GRCm39) V262A probably damaging Het
Or6c35 A G 10: 129,169,623 (GRCm39) N291S probably damaging Het
Or6d13 A T 6: 116,517,990 (GRCm39) N192I possibly damaging Het
Pax6 C T 2: 105,523,097 (GRCm39) S325L probably benign Het
Phldb1 T C 9: 44,619,740 (GRCm39) D142G probably null Het
Phldb3 T G 7: 24,324,048 (GRCm39) probably benign Het
Pikfyve G T 1: 65,235,898 (GRCm39) R190L probably damaging Het
Plagl2 A T 2: 153,074,540 (GRCm39) H120Q probably damaging Het
Pou2f1 A T 1: 165,703,640 (GRCm39) probably benign Het
Pramel58 A G 5: 94,831,836 (GRCm39) Y281C possibly damaging Het
Prpf6 A G 2: 181,250,001 (GRCm39) R54G possibly damaging Het
Prss33 T C 17: 24,052,966 (GRCm39) E236G probably benign Het
Ptpru T C 4: 131,522,278 (GRCm39) Y709C probably benign Het
Rcc1l A G 5: 134,197,057 (GRCm39) V212A probably benign Het
Rtl1 G A 12: 109,560,007 (GRCm39) L611F Het
Scp2 A G 4: 107,931,603 (GRCm39) I344T possibly damaging Het
Serpinb2 A T 1: 107,449,890 (GRCm39) D101V possibly damaging Het
Slc13a1 T C 6: 24,097,662 (GRCm39) T422A probably damaging Het
Slc38a10 G T 11: 120,007,762 (GRCm39) T406K probably benign Het
Smad4 T C 18: 73,782,806 (GRCm39) E376G probably damaging Het
Smarcb1 T C 10: 75,750,916 (GRCm39) E115G probably benign Het
Spata31h1 A T 10: 82,120,928 (GRCm39) H4027Q probably damaging Het
Taf5 G A 19: 47,063,370 (GRCm39) V307I probably damaging Het
Tnc T C 4: 63,938,686 (GRCm39) N51S possibly damaging Het
Trp53inp2 G T 2: 155,228,558 (GRCm39) R171L possibly damaging Het
Ttc13 A T 8: 125,402,021 (GRCm39) D579E probably benign Het
Ttn A T 2: 76,775,896 (GRCm39) N1761K unknown Het
Ttpa C T 4: 20,008,401 (GRCm39) probably benign Het
Ugt3a1 G A 15: 9,362,051 (GRCm39) V276I probably benign Het
Usp4 T A 9: 108,244,011 (GRCm39) H296Q probably benign Het
Vmn1r119 T A 7: 20,745,593 (GRCm39) H263L possibly damaging Het
Vmn2r81 A G 10: 79,103,905 (GRCm39) D176G Het
Wdr1 A T 5: 38,687,468 (GRCm39) probably benign Het
Zfp488 T G 14: 33,692,695 (GRCm39) Q156P possibly damaging Het
Other mutations in Ighv1-82
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2679:Ighv1-82 UTSW 12 115,916,372 (GRCm39) missense probably damaging 1.00
R4614:Ighv1-82 UTSW 12 115,916,280 (GRCm39) missense probably benign 0.06
R4615:Ighv1-82 UTSW 12 115,916,280 (GRCm39) missense probably benign 0.06
R4616:Ighv1-82 UTSW 12 115,916,280 (GRCm39) missense probably benign 0.06
R4618:Ighv1-82 UTSW 12 115,916,280 (GRCm39) missense probably benign 0.06
R5379:Ighv1-82 UTSW 12 115,916,297 (GRCm39) missense probably damaging 1.00
R7298:Ighv1-82 UTSW 12 115,916,574 (GRCm39) missense possibly damaging 0.67
R9516:Ighv1-82 UTSW 12 115,916,566 (GRCm39) missense probably damaging 0.98
R9532:Ighv1-82 UTSW 12 115,916,158 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCACAGAAGTAGACCGCAG -3'
(R):5'- CTGTCAGTAACTGAAGGTAAGGAGC -3'

Sequencing Primer
(F):5'- TAGACCGCAGAGTCCTCAGATG -3'
(R):5'- GAGCTCAGCAGTTCCAATCTG -3'
Posted On 2022-01-20