Incidental Mutation 'R7846:Ighv1-85'
ID 606636
Institutional Source Beutler Lab
Gene Symbol Ighv1-85
Ensembl Gene ENSMUSG00000096150
Gene Name immunoglobulin heavy variable 1-85
Synonyms
MMRRC Submission 045900-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7846 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 115963648-115963941 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115963937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 21 (V21D)
Ref Sequence ENSEMBL: ENSMUSP00000100333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103552]
AlphaFold A0A075B5Y6
Predicted Effect possibly damaging
Transcript: ENSMUST00000103552
AA Change: V21D

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100333
Gene: ENSMUSG00000096150
AA Change: V21D

DomainStartEndE-ValueType
IGv 36 117 9.15e-30 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 A G 5: 100,954,698 (GRCm39) V247A probably damaging Het
Acot13 G T 13: 25,002,133 (GRCm39) T103K probably damaging Het
Acsl6 A T 11: 54,251,901 (GRCm39) I683F probably damaging Het
Acss2 A T 2: 155,402,953 (GRCm39) H577L probably damaging Het
Ahctf1 A T 1: 179,614,638 (GRCm39) V382D probably damaging Het
Aldob T C 4: 49,538,858 (GRCm39) H220R probably damaging Het
Ankrd1 C T 19: 36,094,218 (GRCm39) V169M probably damaging Het
Atp5f1a G A 18: 77,869,015 (GRCm39) R413H possibly damaging Het
Cep76 A G 18: 67,762,975 (GRCm39) F283L probably damaging Het
Chrna5 A T 9: 54,912,391 (GRCm39) D397V probably benign Het
Coro7 T C 16: 4,488,400 (GRCm39) D90G probably damaging Het
Csnk1g3 A G 18: 54,081,177 (GRCm39) N383D probably benign Het
Cwf19l2 C A 9: 3,477,889 (GRCm39) Q865K probably damaging Het
Cyth2 C A 7: 45,460,378 (GRCm39) W149C probably damaging Het
Dgkh C A 14: 78,856,026 (GRCm39) R349L probably damaging Het
Dnajc1 G T 2: 18,224,704 (GRCm39) T383N possibly damaging Het
Efcab3 T A 11: 104,605,571 (GRCm39) probably null Het
Extl3 A T 14: 65,313,181 (GRCm39) M667K probably damaging Het
Fam149a G T 8: 45,811,678 (GRCm39) A75E Het
Fgd4 T G 16: 16,240,590 (GRCm39) Q713P probably damaging Het
Frat2 T A 19: 41,836,215 (GRCm39) I46F probably damaging Het
Gzmc A G 14: 56,469,017 (GRCm39) V234A probably damaging Het
H2-Q4 A G 17: 35,599,134 (GRCm39) N135D probably damaging Het
Itprid1 A G 6: 55,955,320 (GRCm39) Q976R possibly damaging Het
Kcna6 A T 6: 126,715,983 (GRCm39) V302E probably damaging Het
Kdm3b G T 18: 34,942,293 (GRCm39) V795L possibly damaging Het
Kdm5b G A 1: 134,545,578 (GRCm39) R913H probably damaging Het
Lpp T A 16: 24,426,876 (GRCm39) M1K probably null Het
Med12l T C 3: 59,172,355 (GRCm39) S1704P probably damaging Het
Mfsd10 G T 5: 34,793,456 (GRCm39) S95* probably null Het
Napepld C T 5: 21,880,721 (GRCm39) E225K probably benign Het
Ndfip2 T C 14: 105,535,448 (GRCm39) F245L probably damaging Het
Oaf G A 9: 43,134,077 (GRCm39) R215C probably damaging Het
Or10k2 A G 8: 84,268,526 (GRCm39) H251R probably damaging Het
Or13a20 C T 7: 140,232,374 (GRCm39) H161Y probably damaging Het
Or51i1 A G 7: 103,670,736 (GRCm39) I263T possibly damaging Het
Or52z15 A G 7: 103,332,407 (GRCm39) I161V probably benign Het
Or5p6 A G 7: 107,631,199 (GRCm39) I117T probably benign Het
Or8b47 A G 9: 38,435,675 (GRCm39) T216A probably benign Het
Pcdhgb2 A T 18: 37,825,273 (GRCm39) I755F possibly damaging Het
Pde4dip A G 3: 97,622,490 (GRCm39) L1573P probably damaging Het
Peg3 A T 7: 6,713,650 (GRCm39) V524E probably damaging Het
Phc1 G T 6: 122,310,329 (GRCm39) T126N probably damaging Het
Phf1 C A 17: 27,154,291 (GRCm39) Y169* probably null Het
Pramel25 A T 4: 143,520,563 (GRCm39) D269V probably benign Het
Prl3a1 G A 13: 27,456,442 (GRCm39) E99K probably damaging Het
Prss57 G A 10: 79,623,213 (GRCm39) A78V probably damaging Het
Ptprb A T 10: 116,119,453 (GRCm39) T196S probably benign Het
Rgsl1 A T 1: 153,701,783 (GRCm39) C224S possibly damaging Het
Rtn4 T C 11: 29,643,274 (GRCm39) V29A unknown Het
Selplg G A 5: 113,957,481 (GRCm39) T275M probably damaging Het
Skint11 C T 4: 114,102,076 (GRCm39) T363I possibly damaging Het
Slc22a29 T A 19: 8,170,851 (GRCm39) I289F probably benign Het
Slc26a2 A G 18: 61,331,776 (GRCm39) S552P probably benign Het
Sptb T A 12: 76,655,300 (GRCm39) K1480* probably null Het
Sptbn1 C A 11: 30,092,153 (GRCm39) M537I probably damaging Het
Sqor A T 2: 122,627,008 (GRCm39) H43L probably benign Het
Srcin1 C A 11: 97,416,926 (GRCm39) E913* probably null Het
Srgap1 A G 10: 121,621,397 (GRCm39) L1032P probably damaging Het
Stc2 T C 11: 31,315,413 (GRCm39) K142R probably benign Het
Stox1 A C 10: 62,495,305 (GRCm39) N989K probably damaging Het
Tert T A 13: 73,776,314 (GRCm39) L355H probably damaging Het
Tfb2m A G 1: 179,358,926 (GRCm39) F319S probably damaging Het
Trps1 A G 15: 50,695,273 (GRCm39) F341L probably damaging Het
Ttk T C 9: 83,725,732 (GRCm39) V218A probably benign Het
Vmn1r159 A G 7: 22,542,696 (GRCm39) I112T probably benign Het
Vps8 C A 16: 21,351,070 (GRCm39) Q916K probably benign Het
Wdr12 A T 1: 60,121,225 (GRCm39) D364E probably damaging Het
Ylpm1 A G 12: 85,104,042 (GRCm39) E2019G probably damaging Het
Zfp267 C A 3: 36,219,738 (GRCm39) T587N probably benign Het
Zfp507 A G 7: 35,493,963 (GRCm39) L360P probably damaging 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
R8186:Ighv1-85 UTSW 12 115,963,923 (GRCm39) missense probably benign 0.13
R8249:Ighv1-85 UTSW 12 115,963,844 (GRCm39) missense probably benign
R9570:Ighv1-85 UTSW 12 115,963,794 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTCTACAGTCAATGTGGCCTTG -3'
(R):5'- ATGGCCAATGTCCTCTCCAC -3'

Sequencing Primer
(F):5'- GCCCTTGAACTTCTCATTGTACTTAG -3'
(R):5'- CAGTCCCTGAAGACACTGATTC -3'
Posted On 2019-12-20