Incidental Mutation 'IGL00594:Rpn1'
| ID |
5408 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rpn1
|
| Ensembl Gene |
ENSMUSG00000030062 |
| Gene Name |
ribophorin I |
| Synonyms |
D6Wsu137e, Rpn-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL00594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88061464-88082286 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 88072611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 318
(R318L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032143]
|
| AlphaFold |
Q91YQ5 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
| Acox1 |
A |
G |
11: 116,065,331 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
G |
A |
X: 159,268,773 (GRCm39) |
V677I |
probably benign |
Het |
| Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,290,811 (GRCm39) |
V354A |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
| Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
| Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
| Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
| Ms4a14 |
A |
G |
19: 11,278,983 (GRCm39) |
S1192P |
possibly damaging |
Het |
| Ndufaf6 |
T |
C |
4: 11,062,127 (GRCm39) |
Y168C |
probably damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
| Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,884,487 (GRCm39) |
E346G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,294 (GRCm39) |
F361S |
possibly damaging |
Het |
| Tenm1 |
G |
T |
X: 41,803,913 (GRCm39) |
P837T |
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,746,474 (GRCm39) |
V27A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,724,659 (GRCm39) |
Y543H |
possibly damaging |
Het |
|
| Other mutations in Rpn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02614:Rpn1
|
APN |
6 |
88,079,087 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0101:Rpn1
|
UTSW |
6 |
88,070,769 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0101:Rpn1
|
UTSW |
6 |
88,070,769 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0505:Rpn1
|
UTSW |
6 |
88,067,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1655:Rpn1
|
UTSW |
6 |
88,077,926 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1933:Rpn1
|
UTSW |
6 |
88,070,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Rpn1
|
UTSW |
6 |
88,070,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Rpn1
|
UTSW |
6 |
88,072,530 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2020:Rpn1
|
UTSW |
6 |
88,072,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Rpn1
|
UTSW |
6 |
88,077,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3237:Rpn1
|
UTSW |
6 |
88,080,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3722:Rpn1
|
UTSW |
6 |
88,067,282 (GRCm39) |
splice site |
probably null |
|
|
R4837:Rpn1
|
UTSW |
6 |
88,067,187 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5546:Rpn1
|
UTSW |
6 |
88,070,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6989:Rpn1
|
UTSW |
6 |
88,076,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7292:Rpn1
|
UTSW |
6 |
88,067,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Rpn1
|
UTSW |
6 |
88,061,619 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7623:Rpn1
|
UTSW |
6 |
88,061,550 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7816:Rpn1
|
UTSW |
6 |
88,080,378 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7960:Rpn1
|
UTSW |
6 |
88,079,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Rpn1
|
UTSW |
6 |
88,072,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8696:Rpn1
|
UTSW |
6 |
88,080,359 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8831:Rpn1
|
UTSW |
6 |
88,061,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9572:Rpn1
|
UTSW |
6 |
88,078,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-04-20 |
Incidental Mutation