Incidental Mutation 'R8037:Ighv1-52'
ID 618304
Institutional Source Beutler Lab
Gene Symbol Ighv1-52
Ensembl Gene ENSMUSG00000095204
Gene Name immunoglobulin heavy variable 1-52
Synonyms Gm16828
MMRRC Submission 067474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R8037 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 115109107-115109400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115109210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 83 (F83S)
Ref Sequence ENSEMBL: ENSMUSP00000141930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103522] [ENSMUST00000192554]
AlphaFold A0A075B5W2
Predicted Effect probably damaging
Transcript: ENSMUST00000103522
AA Change: F82S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100303
Gene: ENSMUSG00000095204
AA Change: F82S

DomainStartEndE-ValueType
IGv 35 116 5.55e-29 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000192554
AA Change: F83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141930
Gene: ENSMUSG00000095204
AA Change: F83S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 2.3e-31 SMART
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,243,904 (GRCm39) W1922C probably damaging Het
Acad11 T A 9: 103,953,035 (GRCm39) I88N possibly damaging Het
Adgrf3 A T 5: 30,404,510 (GRCm39) C309S probably damaging Het
Ankhd1 T A 18: 36,771,676 (GRCm39) V1343E probably damaging Het
Aqr A T 2: 113,992,161 (GRCm39) Y72N probably damaging Het
Bptf T C 11: 106,946,776 (GRCm39) T2339A probably damaging Het
Ccdc121rt3 A G 5: 112,502,882 (GRCm39) V274A probably benign Het
Ccr8 T C 9: 119,923,436 (GRCm39) F184L probably benign Het
Dbh A G 2: 27,055,700 (GRCm39) D58G probably damaging Het
Depdc5 T C 5: 33,116,692 (GRCm39) probably null Het
Dhdds G A 4: 133,724,158 (GRCm39) T52I probably benign Het
Dnmt1 A C 9: 20,852,860 (GRCm39) V82G probably damaging Het
Efemp2 C T 19: 5,530,141 (GRCm39) Q290* probably null Het
Eipr1 A G 12: 28,914,676 (GRCm39) S277G probably benign Het
Fam110b A G 4: 5,799,511 (GRCm39) I310V possibly damaging Het
Foxn4 T C 5: 114,394,658 (GRCm39) D423G probably damaging Het
Fsip2 T A 2: 82,816,322 (GRCm39) N4018K possibly damaging Het
Gm12887 T A 4: 121,472,887 (GRCm39) D85V probably damaging Het
Gys2 A G 6: 142,394,119 (GRCm39) V473A probably benign Het
Hnrnpu A T 1: 178,159,917 (GRCm39) F388Y unknown Het
Hoxa5 A G 6: 52,181,309 (GRCm39) S8P probably damaging Het
Ier5 A T 1: 154,975,175 (GRCm39) M1K probably null Het
Lrch1 T C 14: 75,023,794 (GRCm39) D577G probably damaging Het
Lrrk1 A T 7: 65,935,089 (GRCm39) M1010K probably benign Het
Mttp T G 3: 137,796,883 (GRCm39) N873T probably damaging Het
Nphs2 A G 1: 156,138,400 (GRCm39) R15G possibly damaging Het
Or4a70 A T 2: 89,324,055 (GRCm39) N200K possibly damaging Het
Or5d16 T C 2: 87,773,319 (GRCm39) T218A probably benign Het
Or8d6 T A 9: 39,854,177 (GRCm39) V207D probably damaging Het
Pcdhga8 T C 18: 37,860,071 (GRCm39) S376P probably damaging Het
Pde3a A G 6: 141,429,650 (GRCm39) N737S possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgap6 T C 17: 26,336,509 (GRCm39) L209P possibly damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rin1 T A 19: 5,101,852 (GRCm39) L179Q probably damaging Het
Sec63 T A 10: 42,659,483 (GRCm39) M57K probably benign Het
Senp2 C T 16: 21,832,888 (GRCm39) Q59* probably null Het
St8sia5 G A 18: 77,336,238 (GRCm39) V224I possibly damaging Het
Sycp2 A T 2: 178,045,571 (GRCm39) D16E probably damaging Het
Tab1 A G 15: 80,044,471 (GRCm39) T500A probably benign Het
Tead1 A G 7: 112,358,727 (GRCm39) D13G possibly damaging Het
Tecpr2 T C 12: 110,902,854 (GRCm39) F860L probably benign Het
Tg A G 15: 66,560,724 (GRCm39) M1029V probably benign Het
Tnni2 A G 7: 141,997,691 (GRCm39) R109G probably damaging Het
Unc79 A G 12: 103,016,178 (GRCm39) K320R probably damaging Het
Vmn1r9 T A 6: 57,047,988 (GRCm39) V21D probably benign Het
Zfp64 A G 2: 168,741,932 (GRCm39) F332S probably damaging Het
Other mutations in Ighv1-52
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5120:Ighv1-52 UTSW 12 115,109,406 (GRCm39) missense probably benign 0.01
R6998:Ighv1-52 UTSW 12 115,109,112 (GRCm39) missense probably benign 0.43
R8038:Ighv1-52 UTSW 12 115,109,210 (GRCm39) missense probably damaging 1.00
Z1176:Ighv1-52 UTSW 12 115,109,397 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGAATCTCCTCAGTCCCAGG -3'
(R):5'- GTGACAATGACATCCACTCTCTC -3'

Sequencing Primer
(F):5'- AGTCCCAGGGCAGTTTGCTAC -3'
(R):5'- ATAGGTGTCCACTCCCAGGTC -3'
Posted On 2020-01-23