Incidental Mutation 'R2865:Ighv8-9'
ID 476898
Institutional Source Beutler Lab
Gene Symbol Ighv8-9
Ensembl Gene ENSMUSG00000095117
Gene Name immunoglobulin heavy variable V8-9
Synonyms
MMRRC Submission 040454-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R2865 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 115431951-115432252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115432066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 82 (P82S)
Ref Sequence ENSEMBL: ENSMUSP00000142895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103533] [ENSMUST00000197803]
AlphaFold A0A075B5X1
Predicted Effect probably benign
Transcript: ENSMUST00000103533
AA Change: P63S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000100314
Gene: ENSMUSG00000095117
AA Change: P63S

DomainStartEndE-ValueType
IGv 17 99 1.65e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197803
AA Change: P82S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142895
Gene: ENSMUSG00000095117
AA Change: P82S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 118 6.7e-25 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (30/30)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A G 8: 12,329,635 (GRCm39) Q30R unknown Het
Bmper A G 9: 23,395,237 (GRCm39) N656S probably benign Het
Cic T A 7: 24,972,646 (GRCm39) D792E probably damaging Het
Dab1 G A 4: 104,537,343 (GRCm39) C192Y probably benign Het
Ddx6 G T 9: 44,525,553 (GRCm39) L103F probably damaging Het
Fhod1 T C 8: 106,059,543 (GRCm39) K714R probably null Het
Flt1 T C 5: 147,531,431 (GRCm39) Q844R possibly damaging Het
Fnip1 T C 11: 54,393,250 (GRCm39) I562T probably damaging Het
Fxr2 T A 11: 69,530,253 (GRCm39) I40N probably damaging Het
Gm7168 A G 17: 14,170,117 (GRCm39) K495E probably benign Het
Gria2 C T 3: 80,639,392 (GRCm39) V207I probably benign Het
Ifna6 G C 4: 88,746,099 (GRCm39) R149S probably benign Het
Ifna6 C A 4: 88,746,086 (GRCm39) T145K probably benign Het
Igf2r T C 17: 12,905,611 (GRCm39) H2240R probably damaging Het
Itpr3 T C 17: 27,310,525 (GRCm39) V436A probably benign Het
Ldb3 T G 14: 34,251,460 (GRCm39) D609A probably damaging Het
Lgalsl2 G T 7: 5,362,668 (GRCm39) D100Y probably benign Het
Luc7l C A 17: 26,485,335 (GRCm39) Q112K probably damaging Het
Marchf4 C T 1: 72,491,734 (GRCm39) R179H probably damaging Het
Myt1l A G 12: 29,960,788 (GRCm39) T75A probably benign Het
Or5t9 A T 2: 86,659,198 (GRCm39) D34V probably benign Het
Or8h10 A T 2: 86,808,805 (GRCm39) C112S possibly damaging Het
Parp4 C T 14: 56,851,181 (GRCm39) T728M probably damaging Het
Ppp1r10 A G 17: 36,239,384 (GRCm39) T398A possibly damaging Het
Ppp4c A T 7: 126,391,272 (GRCm39) I20N probably damaging Het
Rph3a C T 5: 121,085,990 (GRCm39) G482D probably damaging Het
Rtel1 T A 2: 180,991,765 (GRCm39) F388I probably benign Het
Slc12a6 G A 2: 112,177,662 (GRCm39) V594I probably benign Het
Slc2a4 G A 11: 69,836,942 (GRCm39) S134F probably damaging Het
Tead4 A T 6: 128,225,062 (GRCm39) probably null Het
Usp40 G A 1: 87,877,701 (GRCm39) Q1152* probably null Het
Other mutations in Ighv8-9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02221:Ighv8-9 APN 12 115,431,947 (GRCm39) unclassified probably benign
R4787:Ighv8-9 UTSW 12 115,432,134 (GRCm39) missense probably damaging 1.00
R7570:Ighv8-9 UTSW 12 115,432,358 (GRCm39) missense probably benign 0.13
R8166:Ighv8-9 UTSW 12 115,432,212 (GRCm39) missense probably damaging 1.00
R8928:Ighv8-9 UTSW 12 115,432,204 (GRCm39) missense possibly damaging 0.62
R9406:Ighv8-9 UTSW 12 115,432,257 (GRCm39) missense probably damaging 1.00
R9783:Ighv8-9 UTSW 12 115,431,994 (GRCm39) missense probably benign 0.20
R9784:Ighv8-9 UTSW 12 115,431,994 (GRCm39) missense probably benign 0.20
Predicted Primers
Posted On 2017-05-15