Incidental Mutation 'R0801:Ero1b'
| ID |
76293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ero1b
|
| Ensembl Gene |
ENSMUSG00000057069 |
| Gene Name |
endoplasmic reticulum oxidoreductase 1 beta |
| Synonyms |
1700065B09Rik, 1300013B24Rik, Ero1lb |
| MMRRC Submission |
038981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R0801 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
12580701-12624422 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12596568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 123
(S123G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071973]
[ENSMUST00000220811]
[ENSMUST00000221560]
|
| AlphaFold |
Q8R2E9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071973
AA Change: S123G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000071864
Gene: ENSMUSG00000057069
AA Change: S123G
| 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 benign
Transcript: ENSMUST00000220811
AA Change: S123G
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221560
AA Change: S123G
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221739
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.6%
- 20x: 94.7%
|
| Validation Efficiency |
98% (48/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
A |
G |
10: 43,050,987 (GRCm39) |
K94E |
possibly damaging |
Het |
| Aldh16a1 |
A |
T |
7: 44,796,900 (GRCm39) |
C228S |
probably benign |
Het |
| Arnt |
G |
T |
3: 95,401,157 (GRCm39) |
R702L |
possibly damaging |
Het |
| Ccdc174 |
A |
G |
6: 91,872,313 (GRCm39) |
E314G |
possibly damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,536,866 (GRCm39) |
|
probably null |
Het |
| Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
| Cenpm |
A |
T |
15: 82,118,667 (GRCm39) |
I149N |
probably benign |
Het |
| Cfap44 |
C |
T |
16: 44,242,849 (GRCm39) |
S751L |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,065,107 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
A |
G |
6: 4,531,316 (GRCm39) |
T762A |
unknown |
Het |
| Crebbp |
T |
C |
16: 3,906,140 (GRCm39) |
K1621E |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,355,783 (GRCm39) |
I374L |
probably damaging |
Het |
| Dgkq |
A |
T |
5: 108,808,586 (GRCm39) |
|
probably null |
Het |
| Dis3l |
T |
C |
9: 64,226,436 (GRCm39) |
I365V |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,599,620 (GRCm39) |
R320G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,209,470 (GRCm39) |
N853S |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,496,234 (GRCm39) |
|
probably benign |
Het |
| Eif2ak2 |
T |
A |
17: 79,173,778 (GRCm39) |
R267* |
probably null |
Het |
| Ern2 |
A |
G |
7: 121,780,085 (GRCm39) |
|
probably benign |
Het |
| Fam13a |
G |
T |
6: 58,960,997 (GRCm39) |
N118K |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,729,065 (GRCm39) |
M792K |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Irf3 |
C |
T |
7: 44,650,058 (GRCm39) |
|
probably benign |
Het |
| Map2k5 |
T |
A |
9: 63,265,261 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
A |
8: 13,064,020 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
A |
T |
12: 66,533,507 (GRCm39) |
I878K |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,668,895 (GRCm39) |
S318P |
probably benign |
Het |
| Or13a19 |
G |
A |
7: 139,902,831 (GRCm39) |
C73Y |
probably damaging |
Het |
| Or5aq1b |
G |
A |
2: 86,902,407 (GRCm39) |
Q24* |
probably null |
Het |
| Pklr |
G |
A |
3: 89,052,829 (GRCm39) |
W527* |
probably null |
Het |
| Pnpla5 |
T |
C |
15: 83,998,121 (GRCm39) |
M374V |
probably benign |
Het |
| Ptprn |
G |
T |
1: 75,228,909 (GRCm39) |
H835Q |
probably damaging |
Het |
| R3hdm4 |
A |
G |
10: 79,749,191 (GRCm39) |
|
probably benign |
Het |
| Rgs8 |
T |
A |
1: 153,546,557 (GRCm39) |
C19S |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,553,850 (GRCm39) |
Q575K |
possibly damaging |
Het |
| Srgap1 |
A |
T |
10: 121,643,780 (GRCm39) |
F612L |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,099,443 (GRCm39) |
R1256G |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,517,335 (GRCm39) |
S22P |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,523,644 (GRCm39) |
Y101C |
probably damaging |
Het |
| Usb1 |
T |
C |
8: 96,060,168 (GRCm39) |
|
probably null |
Het |
| Vps13a |
T |
C |
19: 16,664,020 (GRCm39) |
|
probably benign |
Het |
| Vps26a |
G |
A |
10: 62,294,857 (GRCm39) |
|
probably benign |
Het |
| Zfp638 |
T |
A |
6: 83,949,220 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R3719:Ero1b
|
UTSW |
13 |
12,598,493 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- TGACAACATCACTAGCACACTATTGCAT -3'
(R):5'- GGCTCAGCTCCTTCCGCACA -3'
Sequencing Primer
(F):5'- GCACACTATTGCATTTTAAATGCC -3'
(R):5'- tggtagtgcagaggcagg -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation