Incidental Mutation 'IGL00594:Rpn1'
ID5408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpn1
Ensembl Gene ENSMUSG00000030062
Gene Nameribophorin I
SynonymsD6Wsu137e, Rpn-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #IGL00594
Quality Score
Status
Chromosome6
Chromosomal Location88084482-88105304 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 88095629 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 318 (R318L)
Ref Sequence ENSEMBL: ENSMUSP00000032143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032143]
Predicted Effect probably damaging
Transcript: ENSMUST00000032143
AA Change: R318L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032143
Gene: ENSMUSG00000030062
AA Change: R318L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Ribophorin_I 32 458 4.2e-149 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204024
Predicted Effect probably benign
Transcript: ENSMUST00000204838
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 type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 193,174,801 T154A probably benign Het
Acox1 A G 11: 116,174,505 probably benign Het
Adgrg2 G A X: 160,485,777 V677I probably benign Het
Aifm1 T C X: 48,482,099 T386A probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Gm382 T C X: 127,063,152 Y987H probably benign Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 Y168C probably damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Shroom2 A T X: 152,613,516 F1359Y probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbc1d12 A G 19: 38,896,043 E346G possibly damaging Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tenm1 G T X: 42,715,036 P837T probably benign Het
Tmem144 A G 3: 79,839,167 V27A probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Zkscan7 T C 9: 122,895,594 Y543H possibly damaging Het
Other mutations in Rpn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02614:Rpn1 APN 6 88102105 missense probably benign 0.03
R0101:Rpn1 UTSW 6 88093787 missense possibly damaging 0.96
R0101:Rpn1 UTSW 6 88093787 missense possibly damaging 0.96
R0505:Rpn1 UTSW 6 88090242 missense probably benign 0.01
R1655:Rpn1 UTSW 6 88100944 missense possibly damaging 0.78
R1933:Rpn1 UTSW 6 88093859 missense probably damaging 1.00
R1934:Rpn1 UTSW 6 88093859 missense probably damaging 1.00
R1968:Rpn1 UTSW 6 88095548 missense possibly damaging 0.87
R2020:Rpn1 UTSW 6 88095683 missense probably damaging 1.00
R2074:Rpn1 UTSW 6 88100962 missense probably damaging 1.00
R3237:Rpn1 UTSW 6 88103414 missense probably benign 0.00
R3722:Rpn1 UTSW 6 88090300 splice site probably null
R4837:Rpn1 UTSW 6 88090205 missense probably benign 0.10
R5546:Rpn1 UTSW 6 88093859 missense probably damaging 1.00
R6989:Rpn1 UTSW 6 88099303 missense probably benign 0.02
R7292:Rpn1 UTSW 6 88090084 missense probably damaging 1.00
Posted On2012-04-20