Incidental Mutation 'R3719:Ero1b'
| ID |
258827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ero1b
|
| Ensembl Gene |
ENSMUSG00000057069 |
| Gene Name |
endoplasmic reticulum oxidoreductase 1 beta |
| Synonyms |
1700065B09Rik, 1300013B24Rik, Ero1lb |
| MMRRC Submission |
042001-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R3719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
12580701-12624422 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 12598493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071973]
[ENSMUST00000071973]
[ENSMUST00000220811]
[ENSMUST00000221560]
|
| AlphaFold |
Q8R2E9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071973
|
| SMART Domains |
Protein: ENSMUSP00000071864
Gene: ENSMUSG00000057069
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
|
Pfam:ERO1
|
56 |
456 |
2.5e-130 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000071973
|
| SMART Domains |
Protein: ENSMUSP00000071864
Gene: ENSMUSG00000057069
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
|
Pfam:ERO1
|
56 |
456 |
2.5e-130 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220811
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221739
|
| Meta Mutation Damage Score |
0.9590 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased circulating glucose levels, decreased pancreas insulin levels, and disorganized islets. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
A |
15: 94,259,719 (GRCm39) |
R327C |
probably damaging |
Het |
| Atxn2l |
G |
A |
7: 126,097,302 (GRCm39) |
R335W |
probably damaging |
Het |
| Blk |
A |
G |
14: 63,621,451 (GRCm39) |
S93P |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,711,343 (GRCm39) |
D75G |
probably damaging |
Het |
| Chpf2 |
C |
T |
5: 24,795,310 (GRCm39) |
Q278* |
probably null |
Het |
| Cypt14-ps |
C |
T |
X: 38,952,128 (GRCm39) |
G52E |
probably damaging |
Het |
| Defb18 |
A |
G |
1: 18,306,813 (GRCm39) |
S48P |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,006,882 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,717,876 (GRCm39) |
S254P |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Kdm3b |
C |
T |
18: 34,941,724 (GRCm39) |
A405V |
probably damaging |
Het |
| Mcm7 |
G |
A |
5: 138,164,976 (GRCm39) |
Q550* |
probably null |
Het |
| Or9m1 |
G |
A |
2: 87,733,447 (GRCm39) |
T191I |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,374 (GRCm39) |
E1150G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,279,288 (GRCm39) |
Y756C |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,571,175 (GRCm39) |
T187A |
probably benign |
Het |
| Rbms3 |
C |
T |
9: 116,411,930 (GRCm39) |
V421I |
probably benign |
Het |
| Selenbp2 |
T |
C |
3: 94,606,924 (GRCm39) |
F190S |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,382,144 (GRCm39) |
T801M |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,244,494 (GRCm39) |
H180Q |
unknown |
Het |
| Tenm4 |
A |
G |
7: 96,512,770 (GRCm39) |
K1339R |
possibly damaging |
Het |
| Trim30a |
C |
A |
7: 104,060,370 (GRCm39) |
D469Y |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,964,354 (GRCm39) |
R1283H |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,749,757 (GRCm39) |
R29* |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,194,672 (GRCm39) |
V567A |
probably benign |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,811 (GRCm39) |
Y199C |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,582 (GRCm39) |
Y459N |
probably damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,245 (GRCm39) |
I215V |
probably benign |
Het |
| Wdr48 |
C |
T |
9: 119,736,197 (GRCm39) |
S162F |
probably damaging |
Het |
|
| Other mutations in Ero1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01015:Ero1b
|
APN |
13 |
12,616,623 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02738:Ero1b
|
APN |
13 |
12,619,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03033:Ero1b
|
APN |
13 |
12,596,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Ero1b
|
UTSW |
13 |
12,589,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0801:Ero1b
|
UTSW |
13 |
12,596,568 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1665:Ero1b
|
UTSW |
13 |
12,594,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1851:Ero1b
|
UTSW |
13 |
12,619,292 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1928:Ero1b
|
UTSW |
13 |
12,616,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2910:Ero1b
|
UTSW |
13 |
12,615,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Ero1b
|
UTSW |
13 |
12,619,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4875:Ero1b
|
UTSW |
13 |
12,619,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5053:Ero1b
|
UTSW |
13 |
12,614,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5338:Ero1b
|
UTSW |
13 |
12,589,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5415:Ero1b
|
UTSW |
13 |
12,616,656 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5800:Ero1b
|
UTSW |
13 |
12,617,190 (GRCm39) |
splice site |
probably null |
|
|
R5907:Ero1b
|
UTSW |
13 |
12,615,207 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5909:Ero1b
|
UTSW |
13 |
12,594,139 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6029:Ero1b
|
UTSW |
13 |
12,589,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Ero1b
|
UTSW |
13 |
12,615,203 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7331:Ero1b
|
UTSW |
13 |
12,615,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Ero1b
|
UTSW |
13 |
12,617,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7726:Ero1b
|
UTSW |
13 |
12,620,722 (GRCm39) |
makesense |
probably null |
|
|
R8477:Ero1b
|
UTSW |
13 |
12,616,672 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8528:Ero1b
|
UTSW |
13 |
12,614,757 (GRCm39) |
nonsense |
probably null |
|
|
R9371:Ero1b
|
UTSW |
13 |
12,589,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGAATTTATGGCTTCATCTTCTG -3'
(R):5'- TGATCTAAAGTGAAGGCCCACAG -3'
Sequencing Primer
(F):5'- TCCATAGTAACGAAAGCAAA -3'
(R):5'- GAGGCTCAAGTTTCTCAGCCATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation