Incidental Mutation 'R2410:Ero1a'
| ID |
249960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ero1a
|
| Ensembl Gene |
ENSMUSG00000021831 |
| Gene Name |
endoplasmic reticulum oxidoreductase 1 alpha |
| Synonyms |
Ero1l |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R2410 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
45520544-45556029 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45542723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 101
(V101I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022378]
|
| AlphaFold |
Q8R180 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022378
AA Change: V101I
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022378
Gene: ENSMUSG00000021831
AA Change: V101I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:ERO1
|
60 |
453 |
3.7e-128 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228836
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the endoplasmic reticulum oxidoreductin family. The encoded protein is localized to the endoplasmic reticulum and promotes the formation of disulfide bonds by oxidizing protein disulfide isomerase. This gene may play a role in endoplasmic reticulum stress-induced apoptosis and the cellular response to hypoxia. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased apoptosis and calcium release in macrophages exposed to endoplasmic reticulum stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Adgrf5 |
C |
A |
17: 43,766,157 (GRCm39) |
N1326K |
probably benign |
Het |
| Ciita |
A |
G |
16: 10,328,568 (GRCm39) |
E284G |
probably damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,083 (GRCm39) |
Y284C |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,991,262 (GRCm39) |
D2368G |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,650,716 (GRCm39) |
V807I |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,439,240 (GRCm39) |
D491G |
probably damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,895,111 (GRCm39) |
Y9H |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,496,453 (GRCm39) |
Y299C |
possibly damaging |
Het |
| Lamc1 |
G |
A |
1: 153,123,141 (GRCm39) |
T683M |
possibly damaging |
Het |
| Lrrc39 |
C |
T |
3: 116,374,899 (GRCm39) |
P327S |
probably benign |
Het |
| Marf1 |
A |
T |
16: 13,933,691 (GRCm39) |
F1566I |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,924,183 (GRCm39) |
M343K |
probably damaging |
Het |
| Mlxip |
T |
A |
5: 123,581,132 (GRCm39) |
W260R |
probably damaging |
Het |
| Mrps17 |
T |
C |
5: 129,795,047 (GRCm39) |
V64A |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,974,899 (GRCm39) |
I156N |
possibly damaging |
Het |
| Phldb3 |
C |
T |
7: 24,323,719 (GRCm39) |
S450L |
probably benign |
Het |
| Pi4k2a |
A |
G |
19: 42,093,316 (GRCm39) |
E219G |
possibly damaging |
Het |
| Polr1a |
T |
C |
6: 71,951,866 (GRCm39) |
S1478P |
probably benign |
Het |
| Rab14 |
T |
C |
2: 35,076,762 (GRCm39) |
|
probably null |
Het |
| Rnf43 |
T |
C |
11: 87,623,085 (GRCm39) |
Y729H |
possibly damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Sorbs1 |
T |
A |
19: 40,361,959 (GRCm39) |
I142F |
probably damaging |
Het |
| Tmem255b |
A |
G |
8: 13,491,278 (GRCm39) |
I66V |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,123 (GRCm39) |
D175G |
probably damaging |
Het |
| Zfp954 |
A |
T |
7: 7,120,808 (GRCm39) |
I74N |
probably benign |
Het |
|
| Other mutations in Ero1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Ero1a
|
APN |
14 |
45,541,043 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01672:Ero1a
|
APN |
14 |
45,529,887 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01914:Ero1a
|
APN |
14 |
45,544,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01979:Ero1a
|
APN |
14 |
45,525,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02302:Ero1a
|
APN |
14 |
45,530,619 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03351:Ero1a
|
APN |
14 |
45,531,990 (GRCm39) |
missense |
probably benign |
|
|
R0844:Ero1a
|
UTSW |
14 |
45,530,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Ero1a
|
UTSW |
14 |
45,537,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Ero1a
|
UTSW |
14 |
45,525,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Ero1a
|
UTSW |
14 |
45,536,545 (GRCm39) |
splice site |
probably null |
|
|
R3415:Ero1a
|
UTSW |
14 |
45,525,323 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3417:Ero1a
|
UTSW |
14 |
45,525,323 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4074:Ero1a
|
UTSW |
14 |
45,529,893 (GRCm39) |
splice site |
probably null |
|
|
R6369:Ero1a
|
UTSW |
14 |
45,537,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6899:Ero1a
|
UTSW |
14 |
45,530,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7052:Ero1a
|
UTSW |
14 |
45,544,040 (GRCm39) |
nonsense |
probably null |
|
|
R7064:Ero1a
|
UTSW |
14 |
45,544,049 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7516:Ero1a
|
UTSW |
14 |
45,525,480 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7520:Ero1a
|
UTSW |
14 |
45,544,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8326:Ero1a
|
UTSW |
14 |
45,531,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9201:Ero1a
|
UTSW |
14 |
45,525,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9735:Ero1a
|
UTSW |
14 |
45,533,435 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Ero1a
|
UTSW |
14 |
45,537,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCTCATCAGAAGTCCAG -3'
(R):5'- ATTTGAGCCCTGACTCCCAG -3'
Sequencing Primer
(F):5'- TGCCTCATCAGAAGTCCAGTAGAAAG -3'
(R):5'- TGGACTTACCCGCAGCTAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation