Incidental Mutation 'IGL02688:Ighv1-67'
ID303622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-67
Ensembl Gene ENSMUSG00000095863
Gene Nameimmunoglobulin heavy variable V1-67
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02688
Quality Score
Status
Chromosome12
Chromosomal Location115603940-115604233 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 115604023 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 90 (T90P)
Ref Sequence ENSEMBL: ENSMUSP00000143248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103538] [ENSMUST00000198646]
Predicted Effect probably damaging
Transcript: ENSMUST00000103538
AA Change: T71P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100319
Gene: ENSMUSG00000095863
AA Change: T71P

DomainStartEndE-ValueType
IGv 17 98 1.85e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198646
AA Change: T90P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143248
Gene: ENSMUSG00000095863
AA Change: T90P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 7.5e-28 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C A 8: 40,826,320 R583S probably benign Het
Bcl9l C T 9: 44,505,263 T211I possibly damaging Het
C6 A G 15: 4,798,320 I724V probably benign Het
Cacna2d4 T A 6: 119,270,749 probably null Het
Casp4 A G 9: 5,322,844 E40G possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Dnah7a A C 1: 53,444,472 M3382R possibly damaging Het
Dst T C 1: 34,195,952 L3526P probably damaging Het
Eya4 A G 10: 23,159,110 S116P probably benign Het
Gabra4 T A 5: 71,572,167 E423D probably benign Het
Kcnh8 A G 17: 52,959,443 T828A probably benign Het
Nr5a2 A G 1: 136,940,407 probably null Het
Nup214 C T 2: 32,031,275 P1237S probably benign Het
Phactr3 A G 2: 178,278,999 D215G probably damaging Het
Phf2 G T 13: 48,805,839 P897Q unknown Het
Pla2r1 T C 2: 60,455,201 R690G probably damaging Het
Ppargc1b A G 18: 61,312,243 S181P possibly damaging Het
Sele A T 1: 164,050,130 I165F probably damaging Het
Srcap T C 7: 127,542,453 S1626P probably benign Het
Tenm2 A G 11: 36,068,458 I1088T probably benign Het
Tnrc18 T C 5: 142,790,172 S69G probably damaging Het
Trmt5 C A 12: 73,281,458 E324* probably null Het
Ttll3 T C 6: 113,399,739 I360T probably benign Het
Zfp277 A G 12: 40,328,688 V390A possibly damaging Het
Other mutations in Ighv1-67
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02315:Ighv1-67 APN 12 115604067 missense probably benign 0.39
R2896:Ighv1-67 UTSW 12 115603975 missense probably damaging 0.96
R6766:Ighv1-67 UTSW 12 115604034 missense possibly damaging 0.76
R7220:Ighv1-67 UTSW 12 115604046 missense probably benign 0.45
Posted On2015-04-16