Incidental Mutation 'P0038:Eral1'
| ID |
7702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eral1
|
| Ensembl Gene |
ENSMUSG00000020832 |
| Gene Name |
Era like 12S mitochondrial rRNA chaperone 1 |
| Synonyms |
MERA-S, 9130407C09Rik, 2610524P08Rik, MERA-W |
| MMRRC Submission |
038287-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
P0038 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77964202-77971209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77966847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 189
(D189E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021183]
|
| AlphaFold |
Q9CZU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021183
AA Change: D189E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021183
Gene: ENSMUSG00000020832
AA Change: D189E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
92 |
N/A |
INTRINSIC |
|
Pfam:AIG1
|
114 |
249 |
2.2e-11 |
PFAM |
|
Pfam:FeoB_N
|
114 |
260 |
5e-10 |
PFAM |
|
Pfam:MMR_HSR1
|
115 |
237 |
4e-21 |
PFAM |
|
Pfam:Dynamin_N
|
116 |
162 |
1.6e-6 |
PFAM |
|
Pfam:KH_2
|
363 |
437 |
6.3e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000093557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196157
|
| Meta Mutation Damage Score |
0.1837 |
| Coding Region Coverage |
- 1x: 79.6%
- 3x: 69.7%
- 10x: 40.2%
- 20x: 18.1%
|
| Validation Efficiency |
86% (80/93) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2b |
C |
A |
12: 5,004,536 (GRCm39) |
|
probably benign |
Het |
| Atmin |
T |
A |
8: 117,683,775 (GRCm39) |
C478* |
probably null |
Het |
| Cdh13 |
G |
A |
8: 119,401,843 (GRCm39) |
V82M |
probably damaging |
Het |
| Dip2c |
A |
C |
13: 9,697,018 (GRCm39) |
T1310P |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,052,369 (GRCm39) |
Y33C |
probably damaging |
Het |
| Gjb4 |
A |
T |
4: 127,245,293 (GRCm39) |
V216D |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,206,842 (GRCm39) |
V103A |
probably damaging |
Het |
| Mfsd12 |
C |
T |
10: 81,198,052 (GRCm39) |
T311I |
probably benign |
Het |
| Mtrex |
A |
C |
13: 113,047,513 (GRCm39) |
Y277* |
probably null |
Het |
| Paf1 |
T |
C |
7: 28,096,350 (GRCm39) |
|
probably null |
Het |
| Rfc1 |
T |
C |
5: 65,445,304 (GRCm39) |
T435A |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,923,359 (GRCm39) |
N462S |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,755 (GRCm39) |
T232I |
probably benign |
Het |
| Trpc6 |
A |
T |
9: 8,649,512 (GRCm39) |
N574I |
possibly damaging |
Het |
| Ttll7 |
T |
C |
3: 146,650,939 (GRCm39) |
F700L |
possibly damaging |
Het |
| Zc3hav1 |
G |
A |
6: 38,309,469 (GRCm39) |
T451M |
probably damaging |
Het |
|
| Other mutations in Eral1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01478:Eral1
|
APN |
11 |
77,966,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01643:Eral1
|
APN |
11 |
77,965,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02240:Eral1
|
APN |
11 |
77,968,687 (GRCm39) |
nonsense |
probably null |
|
|
IGL03085:Eral1
|
APN |
11 |
77,969,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K3955:Eral1
|
UTSW |
11 |
77,966,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Eral1
|
UTSW |
11 |
77,966,884 (GRCm39) |
splice site |
probably benign |
|
|
R1084:Eral1
|
UTSW |
11 |
77,965,324 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1563:Eral1
|
UTSW |
11 |
77,966,232 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1881:Eral1
|
UTSW |
11 |
77,966,875 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1995:Eral1
|
UTSW |
11 |
77,965,315 (GRCm39) |
missense |
probably benign |
|
|
R2189:Eral1
|
UTSW |
11 |
77,966,657 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2870:Eral1
|
UTSW |
11 |
77,967,104 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2870:Eral1
|
UTSW |
11 |
77,967,104 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4049:Eral1
|
UTSW |
11 |
77,966,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Eral1
|
UTSW |
11 |
77,969,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Eral1
|
UTSW |
11 |
77,969,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Eral1
|
UTSW |
11 |
77,966,425 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5450:Eral1
|
UTSW |
11 |
77,969,183 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5613:Eral1
|
UTSW |
11 |
77,965,230 (GRCm39) |
intron |
probably benign |
|
|
R5987:Eral1
|
UTSW |
11 |
77,971,059 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6048:Eral1
|
UTSW |
11 |
77,966,609 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6363:Eral1
|
UTSW |
11 |
77,965,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Eral1
|
UTSW |
11 |
77,966,559 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7384:Eral1
|
UTSW |
11 |
77,964,927 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7468:Eral1
|
UTSW |
11 |
77,966,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Eral1
|
UTSW |
11 |
77,965,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8304:Eral1
|
UTSW |
11 |
77,966,828 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8419:Eral1
|
UTSW |
11 |
77,964,906 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8433:Eral1
|
UTSW |
11 |
77,966,309 (GRCm39) |
missense |
probably benign |
|
|
R9136:Eral1
|
UTSW |
11 |
77,964,960 (GRCm39) |
missense |
|
|
|
R9384:Eral1
|
UTSW |
11 |
77,969,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9670:Eral1
|
UTSW |
11 |
77,965,410 (GRCm39) |
missense |
|
|
|
X0066:Eral1
|
UTSW |
11 |
77,966,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Eral1
|
UTSW |
11 |
77,966,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-10-29 |
Incidental Mutation