Incidental Mutation 'R0039:Ighv8-5'
ID 18578
Institutional Source Beutler Lab
Gene Symbol Ighv8-5
Ensembl Gene ENSMUSG00000102364
Gene Name immunoglobulin heavy variable V8-5
Synonyms
MMRRC Submission 038333-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R0039 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 115031180-115031480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115031207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 111 (T111S)
Ref Sequence ENSEMBL: ENSMUSP00000142292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000194257]
AlphaFold A0A0A6YY60
Predicted Effect possibly damaging
Transcript: ENSMUST00000194257
AA Change: T111S

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142292
Gene: ENSMUSG00000102364
AA Change: T111S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 118 8.6e-31 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 82.5%
  • 3x: 74.4%
  • 10x: 54.3%
  • 20x: 37.4%
Validation Efficiency 95% (60/63)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 C T 12: 52,565,518 (GRCm39) Q830* probably null Het
Atic A T 1: 71,617,009 (GRCm39) E523V possibly damaging Het
Cass4 T A 2: 172,268,900 (GRCm39) F329L probably damaging Het
Cdk17 A T 10: 93,062,640 (GRCm39) probably benign Het
Cep120 C T 18: 53,819,033 (GRCm39) R886H probably benign Het
Cep170 A C 1: 176,610,061 (GRCm39) probably null Het
Dsg3 A G 18: 20,654,541 (GRCm39) K82E probably benign Het
Dtd1 C T 2: 144,588,896 (GRCm39) R185W probably damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Hectd1 T G 12: 51,800,608 (GRCm39) E2070A possibly damaging Het
Ifit1bl2 T A 19: 34,596,846 (GRCm39) K257* probably null Het
Lmtk2 G T 5: 144,103,205 (GRCm39) L321F probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Mfn1 T C 3: 32,592,416 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mroh8 T C 2: 157,071,849 (GRCm39) H552R possibly damaging Het
Myh2 T A 11: 67,069,103 (GRCm39) L304Q probably damaging Het
Prune1 T A 3: 95,169,678 (GRCm39) T175S probably damaging Het
Rdh10 C T 1: 16,199,508 (GRCm39) T238I probably damaging Het
Rlf T A 4: 121,004,039 (GRCm39) H1647L possibly damaging Het
Rreb1 C T 13: 38,083,613 (GRCm39) T92M probably damaging Het
Scn9a A T 2: 66,392,788 (GRCm39) M268K probably damaging Het
Sec16a A G 2: 26,313,926 (GRCm39) V1893A probably benign Het
Snd1 T A 6: 28,745,209 (GRCm39) L518Q probably damaging Het
Stat1 T A 1: 52,179,819 (GRCm39) V343D probably damaging Het
Topors A G 4: 40,262,772 (GRCm39) S171P probably damaging Het
Tubd1 C T 11: 86,440,221 (GRCm39) Q82* probably null Het
Unc13c A G 9: 73,576,847 (GRCm39) probably benign Het
Wdr43 G T 17: 71,960,487 (GRCm39) G590* probably null Het
Other mutations in Ighv8-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Ighv8-5 APN 12 115,031,194 (GRCm39) missense probably damaging 1.00
R2443:Ighv8-5 UTSW 12 115,031,440 (GRCm39) missense probably damaging 1.00
R4910:Ighv8-5 UTSW 12 115,031,462 (GRCm39) missense probably damaging 1.00
R7827:Ighv8-5 UTSW 12 115,031,258 (GRCm39) missense possibly damaging 0.78
R8464:Ighv8-5 UTSW 12 115,031,309 (GRCm39) missense probably benign 0.00
R8477:Ighv8-5 UTSW 12 115,031,200 (GRCm39) missense probably benign 0.02
R8823:Ighv8-5 UTSW 12 115,031,267 (GRCm39) missense probably damaging 1.00
R9655:Ighv8-5 UTSW 12 115,031,416 (GRCm39) missense probably damaging 0.96
R9784:Ighv8-5 UTSW 12 115,031,228 (GRCm39) missense probably benign 0.03
Posted On 2013-03-25