Incidental Mutation 'IGL02614:Rpn1'
| ID |
300608 |
| 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 # |
IGL02614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88061464-88082286 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88079087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 510
(I510N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032143]
|
| AlphaFold |
Q91YQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032143
AA Change: I510N
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000032143
Gene: ENSMUSG00000030062
AA Change: I510N
| 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: ENSMUST00000185149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204164
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,044,215 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
A |
G |
7: 131,026,357 (GRCm39) |
T67A |
probably benign |
Het |
| Aff2 |
A |
G |
X: 68,907,693 (GRCm39) |
D1225G |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,627,366 (GRCm39) |
D133G |
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,551,661 (GRCm39) |
M187K |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,637,207 (GRCm39) |
Y263H |
probably damaging |
Het |
| Cmbl |
G |
T |
15: 31,589,830 (GRCm39) |
V187F |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,337,491 (GRCm39) |
N896S |
probably benign |
Het |
| Fbxo27 |
G |
A |
7: 28,396,201 (GRCm39) |
|
probably null |
Het |
| Galnt16 |
T |
C |
12: 80,623,337 (GRCm39) |
S166P |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,832,010 (GRCm39) |
V47A |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,944,137 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,573,007 (GRCm39) |
I382V |
probably benign |
Het |
| Gpr87 |
C |
A |
3: 59,086,738 (GRCm39) |
V256L |
probably damaging |
Het |
| Il4ra |
C |
A |
7: 125,174,962 (GRCm39) |
S390* |
probably null |
Het |
| Itprid1 |
A |
T |
6: 55,945,262 (GRCm39) |
D661V |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,103,392 (GRCm39) |
|
probably null |
Het |
| Lrriq4 |
A |
T |
3: 30,709,788 (GRCm39) |
L362F |
probably damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,827 (GRCm39) |
N79Y |
probably benign |
Het |
| Nr1i2 |
T |
A |
16: 38,074,118 (GRCm39) |
H165L |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,627,627 (GRCm39) |
E201G |
probably damaging |
Het |
| Phf11a |
T |
A |
14: 59,516,817 (GRCm39) |
T214S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,887 (GRCm39) |
I536K |
possibly damaging |
Het |
| Sall4 |
A |
T |
2: 168,597,805 (GRCm39) |
L20Q |
probably null |
Het |
| Sema3f |
T |
C |
9: 107,559,710 (GRCm39) |
E759G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,945 (GRCm39) |
S446P |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,542,331 (GRCm39) |
T31806A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,701,460 (GRCm39) |
|
probably benign |
Het |
| Vac14 |
T |
G |
8: 111,361,750 (GRCm39) |
L214R |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,486,553 (GRCm39) |
K781E |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,387,503 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,610,072 (GRCm39) |
P964S |
probably damaging |
Het |
|
| Other mutations in Rpn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Rpn1
|
APN |
6 |
88,072,611 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2015-04-16 |
Incidental Mutation