Incidental Mutation 'R8249:Ighv1-85'
ID 640340
Institutional Source Beutler Lab
Gene Symbol Ighv1-85
Ensembl Gene ENSMUSG00000096150
Gene Name immunoglobulin heavy variable 1-85
Synonyms
MMRRC Submission 067649-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 115963648-115963941 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115963844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 52 (D52G)
Ref Sequence ENSEMBL: ENSMUSP00000100333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103552]
AlphaFold A0A075B5Y6
Predicted Effect probably benign
Transcript: ENSMUST00000103552
AA Change: D52G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100333
Gene: ENSMUSG00000096150
AA Change: D52G

DomainStartEndE-ValueType
IGv 36 117 9.15e-30 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,360,971 (GRCm39) S441P probably benign Het
Adck2 C T 6: 39,562,667 (GRCm39) R513* probably null Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Arhgap12 A T 18: 6,027,635 (GRCm39) I736N probably damaging Het
AW554918 C T 18: 25,472,775 (GRCm39) T193I probably benign Het
Bscl2 T C 19: 8,823,884 (GRCm39) Y270H probably damaging Het
Btd T C 14: 31,387,905 (GRCm39) Y112H probably damaging Het
Camk2d C T 3: 126,591,378 (GRCm39) H283Y probably damaging Het
Cnga1 T C 5: 72,762,737 (GRCm39) Y259C probably benign Het
Dnm3 A T 1: 162,305,312 (GRCm39) C27* probably null Het
Fbxo48 T A 11: 16,903,433 (GRCm39) S20T possibly damaging Het
Fkbp6 A G 5: 135,378,806 (GRCm39) S14P possibly damaging Het
Gcfc2 T C 6: 81,933,932 (GRCm39) F730L probably benign Het
Gm136 C A 4: 34,750,955 (GRCm39) R106L probably benign Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
Grin2c C T 11: 115,144,663 (GRCm39) R621Q probably damaging Het
H2-M11 T A 17: 36,859,900 (GRCm39) W298R probably damaging Het
Hars2 A T 18: 36,921,054 (GRCm39) I209F probably damaging Het
Hmcn1 A T 1: 150,695,117 (GRCm39) N262K probably benign Het
Hycc2 G A 1: 58,573,796 (GRCm39) S336L probably benign Het
Ifit1 T A 19: 34,618,389 (GRCm39) probably null Het
Kit T C 5: 75,802,068 (GRCm39) V657A probably damaging Het
Krt32 T C 11: 99,977,548 (GRCm39) I173V probably benign Het
Lrfn3 GC GCCAGGGGAGGTGAGCGGTGGGTCACCTCCC 7: 30,059,298 (GRCm39) probably null Het
Lrp1 C A 10: 127,441,412 (GRCm39) S237I probably benign Het
Map3k9 T C 12: 81,827,551 (GRCm39) D33G unknown Het
Mroh7 T C 4: 106,578,409 (GRCm39) T90A probably benign Het
Mterf1a A C 5: 3,941,550 (GRCm39) I106S probably damaging Het
Mtrf1 C A 14: 79,638,919 (GRCm39) A17E probably benign Het
Musk T G 4: 58,368,926 (GRCm39) L635R probably damaging Het
Naxe A T 3: 87,965,695 (GRCm39) W35R possibly damaging Het
Nlrp9c T A 7: 26,074,778 (GRCm39) K806* probably null Het
Pi4k2a A G 19: 42,103,501 (GRCm39) E337G probably benign Het
Pwwp2b G T 7: 138,834,759 (GRCm39) G67C probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Scn10a T A 9: 119,446,840 (GRCm39) Y1396F probably damaging Het
Sdk1 A T 5: 142,173,770 (GRCm39) probably null Het
Serpina1f C T 12: 103,660,027 (GRCm39) G85E probably damaging Het
Tceanc2 G A 4: 107,036,190 (GRCm39) probably benign Het
Tmem156 T A 5: 65,232,969 (GRCm39) R186* probably null Het
Trbv16 A G 6: 41,128,932 (GRCm39) T39A possibly damaging Het
Tti1 C G 2: 157,842,635 (GRCm39) S798T probably benign Het
Unc80 A T 1: 66,658,650 (GRCm39) M1656L probably benign Het
Wnt2 C A 6: 18,030,284 (GRCm39) M1I probably null Het
Other mutations in Ighv1-85
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Ighv1-85 APN 12 115,963,654 (GRCm39) missense probably damaging 1.00
IGL01389:Ighv1-85 APN 12 115,963,671 (GRCm39) missense probably damaging 1.00
R3008:Ighv1-85 UTSW 12 115,963,704 (GRCm39) missense probably damaging 0.97
R3707:Ighv1-85 UTSW 12 115,963,836 (GRCm39) missense probably damaging 1.00
R3708:Ighv1-85 UTSW 12 115,963,836 (GRCm39) missense probably damaging 1.00
R5542:Ighv1-85 UTSW 12 115,963,847 (GRCm39) missense probably benign 0.02
R5644:Ighv1-85 UTSW 12 115,963,680 (GRCm39) missense possibly damaging 0.89
R7311:Ighv1-85 UTSW 12 115,963,799 (GRCm39) missense probably damaging 0.99
R7846:Ighv1-85 UTSW 12 115,963,937 (GRCm39) missense possibly damaging 0.63
R8186:Ighv1-85 UTSW 12 115,963,923 (GRCm39) missense probably benign 0.13
R9570:Ighv1-85 UTSW 12 115,963,794 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGGTTACAACACTGTGTCTTG -3'
(R):5'- GGGCTCACCAGTTCCAAATC -3'

Sequencing Primer
(F):5'- GTGTCTTGCACAGAAATAGACCGC -3'
(R):5'- GGCTCACCAGTTCCAAATCTGAAG -3'
Posted On 2020-07-28