Incidental Mutation 'R6670:Ighv1-62-1'
ID 527109
Institutional Source Beutler Lab
Gene Symbol Ighv1-62-1
Ensembl Gene ENSMUSG00000102313
Gene Name immunoglobulin heavy variable 1-62-1
Synonyms Gm9232
MMRRC Submission 044790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R6670 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 115350327-115350608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115350529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 46 (Y46C)
Ref Sequence ENSEMBL: ENSMUSP00000100284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103503] [ENSMUST00000171270]
AlphaFold A0A075B684
Predicted Effect probably damaging
Transcript: ENSMUST00000103503
AA Change: Y46C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100284
Gene: ENSMUSG00000102313
AA Change: Y46C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 116 4.4e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171270
AA Change: Y27C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193799
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,827,850 (GRCm39) 1544 probably benign Het
Acsm3 T A 7: 119,379,978 (GRCm39) probably null Het
AW551984 T C 9: 39,504,292 (GRCm39) D558G probably damaging Het
Bcl9l GTGAACATGAACATGAACATGAAC GTGAACATGAACATGAACATGAACATGAAC 9: 44,418,369 (GRCm39) probably benign Het
Brd8dc A G 18: 34,719,319 (GRCm39) V167A possibly damaging Het
Ccdc12 T G 9: 110,537,595 (GRCm39) probably null Het
Ctsl T C 13: 64,511,916 (GRCm39) probably null Het
Cul1 T A 6: 47,494,068 (GRCm39) D460E probably damaging Het
Dnttip2 T A 3: 122,069,870 (GRCm39) S362T probably damaging Het
Fbxw16 T A 9: 109,267,280 (GRCm39) D317V probably damaging Het
Fbxw9 T A 8: 85,788,839 (GRCm39) N196K possibly damaging Het
Grap A G 11: 61,551,064 (GRCm39) D32G probably damaging Het
Hhatl T C 9: 121,618,137 (GRCm39) D206G probably damaging Het
Hrnr A T 3: 93,239,192 (GRCm39) Q3143H unknown Het
Krtap16-3 A T 16: 88,759,540 (GRCm39) Y58N unknown Het
Mef2c A G 13: 83,810,716 (GRCm39) K384R probably damaging Het
Nalcn A G 14: 123,702,084 (GRCm39) Y476H possibly damaging Het
Oxgr1 A T 14: 120,259,669 (GRCm39) N179K probably damaging Het
Polk G A 13: 96,633,138 (GRCm39) Q302* probably null Het
Rab3gap1 T A 1: 127,858,512 (GRCm39) S540R probably benign Het
Samd5 A T 10: 9,504,808 (GRCm39) probably null Het
Sema6d GTGATAC G 2: 124,496,762 (GRCm39) probably benign Het
Slc1a6 C A 10: 78,623,646 (GRCm39) A15D probably benign Het
Slc8a1 A G 17: 81,956,883 (GRCm39) C52R probably damaging Het
Sod2 T A 17: 13,227,252 (GRCm39) Y69N possibly damaging Het
Tank T C 2: 61,474,768 (GRCm39) probably null Het
Tbc1d23 A T 16: 57,034,580 (GRCm39) I73N probably benign Het
Tnf A C 17: 35,420,800 (GRCm39) M6R possibly damaging Het
Trmt2a C T 16: 18,068,341 (GRCm39) A16V possibly damaging Het
Ttn A G 2: 76,556,055 (GRCm39) Y21990H probably damaging Het
Uaca C T 9: 60,779,306 (GRCm39) S1231L probably benign Het
Ubr1 A G 2: 120,754,611 (GRCm39) probably null Het
Unc13b A G 4: 43,255,562 (GRCm39) D3849G probably damaging Het
Vmn2r75 T A 7: 85,797,644 (GRCm39) D723V probably damaging Het
Wnt2 C A 6: 18,028,091 (GRCm39) V48L possibly damaging Het
Other mutations in Ighv1-62-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2571:Ighv1-62-1 UTSW 12 115,350,377 (GRCm39) missense probably damaging 0.99
R4381:Ighv1-62-1 UTSW 12 115,350,613 (GRCm39) missense probably benign 0.00
R6730:Ighv1-62-1 UTSW 12 115,350,512 (GRCm39) missense probably benign 0.01
R7241:Ighv1-62-1 UTSW 12 115,350,322 (GRCm39) missense probably damaging 1.00
R8812:Ighv1-62-1 UTSW 12 115,350,367 (GRCm39) missense probably damaging 0.98
R8938:Ighv1-62-1 UTSW 12 115,350,735 (GRCm39) nonsense probably null
R9599:Ighv1-62-1 UTSW 12 115,350,601 (GRCm39) missense possibly damaging 0.93
R9718:Ighv1-62-1 UTSW 12 115,350,705 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGTGGTTACAACACTGTTCCTTG -3'
(R):5'- GGGGCTCACCTGTTCAAAATC -3'

Sequencing Primer
(F):5'- CCTTGCACAGATAGATTGCAG -3'
(R):5'- GGCTCACCTGTTCAAAATCTGAAATG -3'
Posted On 2018-07-23