Incidental Mutation 'R2865:Ighv8-9'
ID476898
Institutional Source Beutler Lab
Gene Symbol Ighv8-9
Ensembl Gene ENSMUSG00000095117
Gene Nameimmunoglobulin heavy variable V8-9
Synonyms
MMRRC Submission 040454-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.308) question?
Stock #R2865 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location115468332-115468632 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 115468446 bp
ZygosityHeterozygous
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]
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: 12,279,635 Q30R unknown Het
Bmper A G 9: 23,483,941 N656S probably benign Het
Cic T A 7: 25,273,221 D792E probably damaging Het
Dab1 G A 4: 104,680,146 C192Y probably benign Het
Ddx6 G T 9: 44,614,256 L103F probably damaging Het
Fhod1 T C 8: 105,332,911 K714R probably null Het
Flt1 T C 5: 147,594,621 Q844R possibly damaging Het
Fnip1 T C 11: 54,502,424 I562T probably damaging Het
Fxr2 T A 11: 69,639,427 I40N probably damaging Het
Gm5065 G T 7: 5,359,669 D100Y probably benign Het
Gm7168 A G 17: 13,949,855 K495E probably benign Het
Gria2 C T 3: 80,732,085 V207I probably benign Het
Ifna6 G C 4: 88,827,862 R149S probably benign Het
Ifna6 C A 4: 88,827,849 T145K probably benign Het
Igf2r T C 17: 12,686,724 H2240R probably damaging Het
Itpr3 T C 17: 27,091,551 V436A probably benign Het
Ldb3 T G 14: 34,529,503 D609A probably damaging Het
Luc7l C A 17: 26,266,361 Q112K probably damaging Het
March4 C T 1: 72,452,575 R179H probably damaging Het
Myt1l A G 12: 29,910,789 T75A probably benign Het
Olfr1094 A T 2: 86,828,854 D34V probably benign Het
Olfr1100 A T 2: 86,978,461 C112S possibly damaging Het
Parp4 C T 14: 56,613,724 T728M probably damaging Het
Ppp1r10 A G 17: 35,928,492 T398A possibly damaging Het
Ppp4c A T 7: 126,792,100 I20N probably damaging Het
Rph3a C T 5: 120,947,927 G482D probably damaging Het
Rtel1 T A 2: 181,349,972 F388I probably benign Het
Slc12a6 G A 2: 112,347,317 V594I probably benign Het
Slc2a4 G A 11: 69,946,116 S134F probably damaging Het
Tead4 A T 6: 128,248,099 probably null Het
Usp40 G A 1: 87,949,979 Q1152* probably null Het
Other mutations in Ighv8-9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02221:Ighv8-9 APN 12 115468327 unclassified probably benign
R4787:Ighv8-9 UTSW 12 115468514 missense probably damaging 1.00
Predicted Primers
Posted On2017-05-15