Incidental Mutation 'IGL01976:Erp27'
ID182672
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erp27
Ensembl Gene ENSMUSG00000030219
Gene Nameendoplasmic reticulum protein 27
Synonyms1810033M07Rik, 1810047B09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL01976
Quality Score
Status
Chromosome6
Chromosomal Location136907311-136922180 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 136919989 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 72 (V72L)
Ref Sequence ENSEMBL: ENSMUSP00000032343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032343] [ENSMUST00000032344] [ENSMUST00000111891] [ENSMUST00000111892] [ENSMUST00000204627] [ENSMUST00000204934]
Predicted Effect probably damaging
Transcript: ENSMUST00000032343
AA Change: V72L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032343
Gene: ENSMUSG00000030219
AA Change: V72L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 48 61 N/A INTRINSIC
Pfam:Thioredoxin_6 64 251 2.8e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032344
SMART Domains Protein: ENSMUSP00000032344
Gene: ENSMUSG00000030220

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 197 4e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111891
SMART Domains Protein: ENSMUSP00000107522
Gene: ENSMUSG00000030220

DomainStartEndE-ValueType
Pfam:Rho_GDI 6 197 5.3e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111892
SMART Domains Protein: ENSMUSP00000107523
Gene: ENSMUSG00000030220

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 197 4e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162755
Predicted Effect probably benign
Transcript: ENSMUST00000204627
SMART Domains Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 74 1.5e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204934
SMART Domains Protein: ENSMUSP00000145103
Gene: ENSMUSG00000030220

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 89 1.5e-38 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,622,665 V1960A possibly damaging Het
Asph A T 4: 9,475,471 N537K probably damaging Het
Bnip2 T C 9: 70,000,834 probably benign Het
Cc2d2a C A 5: 43,683,115 Q104K probably benign Het
Cd300ld A G 11: 114,987,444 S81P probably damaging Het
Clec4a1 T C 6: 122,928,074 probably benign Het
Dnajb8 T C 6: 88,222,526 S15P probably damaging Het
Gm13103 A G 4: 143,852,793 N316S probably benign Het
Gpr156 A G 16: 37,979,033 T131A probably damaging Het
Grk1 T C 8: 13,415,993 V479A probably damaging Het
Hist1h2ba T A 13: 23,933,999 D53V possibly damaging Het
Hspg2 A G 4: 137,561,926 D3784G probably damaging Het
Irf2 A T 8: 46,807,225 K26M probably damaging Het
Irx6 C A 8: 92,676,089 C27* probably null Het
Izumo1r C T 9: 14,901,679 C99Y probably damaging Het
Klrb1a T A 6: 128,618,109 T132S probably benign Het
Mmp13 C T 9: 7,278,974 probably benign Het
Myo5b G A 18: 74,698,277 R766Q probably damaging Het
Myt1 T C 2: 181,795,739 L81P probably damaging Het
Nfat5 G A 8: 107,367,559 V793I probably damaging Het
Nup210 A G 6: 91,053,614 V108A possibly damaging Het
Olfr32 A G 2: 90,138,924 S72P probably damaging Het
Omd T A 13: 49,589,643 Y56* probably null Het
Psmd9 A G 5: 123,234,634 E60G probably damaging Het
Rab11fip1 T C 8: 27,152,797 E658G possibly damaging Het
Smchd1 T A 17: 71,394,725 K1091* probably null Het
Supt16 A T 14: 52,182,307 N111K possibly damaging Het
Trrap A G 5: 144,856,989 T3666A probably benign Het
Ttn T C 2: 76,785,751 D8289G probably damaging Het
Ush2a T A 1: 188,911,241 S4267T probably benign Het
Usp50 T A 2: 126,709,466 E31V probably benign Het
Other mutations in Erp27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Erp27 APN 6 136909502 missense probably damaging 1.00
IGL02348:Erp27 APN 6 136911546 missense probably damaging 1.00
R0452:Erp27 UTSW 6 136909489 missense probably damaging 1.00
R0498:Erp27 UTSW 6 136919864 unclassified probably benign
R2055:Erp27 UTSW 6 136908229 splice site probably benign
R3777:Erp27 UTSW 6 136919903 missense possibly damaging 0.67
R3778:Erp27 UTSW 6 136919903 missense possibly damaging 0.67
R4603:Erp27 UTSW 6 136919949 missense probably damaging 0.98
R4667:Erp27 UTSW 6 136908152 missense possibly damaging 0.90
R4668:Erp27 UTSW 6 136908152 missense possibly damaging 0.90
R5753:Erp27 UTSW 6 136919877 missense probably damaging 1.00
R5814:Erp27 UTSW 6 136911566 missense possibly damaging 0.48
R5864:Erp27 UTSW 6 136908100 missense probably benign 0.09
R6029:Erp27 UTSW 6 136911611 missense probably damaging 0.98
R6131:Erp27 UTSW 6 136908203 missense probably damaging 1.00
R7974:Erp27 UTSW 6 136908065 missense probably damaging 1.00
Z1177:Erp27 UTSW 6 136911646 critical splice acceptor site probably null
Posted On2014-05-07