Incidental Mutation 'R4383:Ermard'
| ID |
325420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ermard
|
| Ensembl Gene |
ENSMUSG00000036552 |
| Gene Name |
ER membrane associated RNA degradation |
| Synonyms |
2210404J11Rik, 2410011O22Rik |
| MMRRC Submission |
041123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R4383 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
15261813-15310307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15280128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 130
(S130P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040594]
[ENSMUST00000097393]
[ENSMUST00000227252]
[ENSMUST00000228803]
|
| AlphaFold |
E9Q048 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040594
AA Change: S93P
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043677
Gene: ENSMUSG00000036552
AA Change: S93P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097393
AA Change: S541P
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095005
Gene: ENSMUSG00000036552
AA Change: S541P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4209
|
133 |
214 |
3.1e-27 |
PFAM |
|
low complexity region
|
390 |
399 |
N/A |
INTRINSIC |
|
SCOP:g1pnb.1
|
429 |
478 |
4e-3 |
SMART |
|
low complexity region
|
583 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227252
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228803
AA Change: S130P
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231568
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
89% (32/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| Arih2 |
T |
G |
9: 108,521,476 (GRCm39) |
M1L |
probably benign |
Het |
| Asic3 |
A |
G |
5: 24,618,932 (GRCm39) |
T75A |
probably damaging |
Het |
| Baat |
C |
T |
4: 49,499,731 (GRCm39) |
A192T |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,512,081 (GRCm39) |
I552V |
probably benign |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Des |
T |
C |
1: 75,337,413 (GRCm39) |
F118L |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,920,305 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
| Inmt |
C |
A |
6: 55,148,203 (GRCm39) |
C142F |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,060 (GRCm39) |
D1228E |
possibly damaging |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Msh2 |
G |
A |
17: 87,996,566 (GRCm39) |
E425K |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,043 (GRCm39) |
Y60H |
probably benign |
Het |
| Poc1b |
A |
G |
10: 98,992,161 (GRCm39) |
D326G |
probably damaging |
Het |
| Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,334,683 (GRCm39) |
K1272R |
possibly damaging |
Het |
| Sec24c |
G |
A |
14: 20,740,841 (GRCm39) |
V620M |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,267,606 (GRCm39) |
A264T |
probably damaging |
Het |
| Ubr2 |
G |
C |
17: 47,250,313 (GRCm39) |
H1545D |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,678,529 (GRCm39) |
C1151S |
probably damaging |
Het |
| Zap70 |
C |
T |
1: 36,820,042 (GRCm39) |
R471W |
probably damaging |
Het |
| Zfp329 |
G |
A |
7: 12,545,584 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
A |
T |
7: 12,227,928 (GRCm39) |
Y625F |
probably damaging |
Het |
|
| Other mutations in Ermard |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00725:Ermard
|
APN |
17 |
15,208,328 (GRCm39) |
splice site |
probably benign |
|
|
IGL01554:Ermard
|
APN |
17 |
15,271,855 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01832:Ermard
|
APN |
17 |
15,280,111 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02045:Ermard
|
APN |
17 |
15,271,826 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02332:Ermard
|
APN |
17 |
15,210,807 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02525:Ermard
|
APN |
17 |
15,279,601 (GRCm39) |
splice site |
probably benign |
|
|
IGL03335:Ermard
|
APN |
17 |
15,279,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Angelos
|
UTSW |
17 |
15,280,032 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Eminence
|
UTSW |
17 |
15,273,467 (GRCm39) |
splice site |
probably null |
|
|
R8203_ermard_787
|
UTSW |
17 |
15,240,548 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Rechthand
|
UTSW |
17 |
15,279,596 (GRCm39) |
splice site |
probably benign |
|
|
sanctus
|
UTSW |
17 |
15,273,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4504001:Ermard
|
UTSW |
17 |
15,279,084 (GRCm39) |
nonsense |
probably null |
|
|
R0211:Ermard
|
UTSW |
17 |
15,242,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0211:Ermard
|
UTSW |
17 |
15,242,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0722:Ermard
|
UTSW |
17 |
15,242,390 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0785:Ermard
|
UTSW |
17 |
15,242,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Ermard
|
UTSW |
17 |
15,273,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3696:Ermard
|
UTSW |
17 |
15,273,638 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3697:Ermard
|
UTSW |
17 |
15,273,638 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4077:Ermard
|
UTSW |
17 |
15,273,638 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5424:Ermard
|
UTSW |
17 |
15,280,032 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6313:Ermard
|
UTSW |
17 |
15,273,467 (GRCm39) |
splice site |
probably null |
|
|
R7685:Ermard
|
UTSW |
17 |
15,279,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7800:Ermard
|
UTSW |
17 |
15,277,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7802:Ermard
|
UTSW |
17 |
15,281,423 (GRCm39) |
missense |
probably benign |
|
|
R7895:Ermard
|
UTSW |
17 |
15,283,875 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8203:Ermard
|
UTSW |
17 |
15,240,548 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8229:Ermard
|
UTSW |
17 |
15,279,596 (GRCm39) |
splice site |
probably benign |
|
|
R8318:Ermard
|
UTSW |
17 |
15,242,334 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8369:Ermard
|
UTSW |
17 |
15,273,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9179:Ermard
|
UTSW |
17 |
15,273,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:Ermard
|
UTSW |
17 |
15,273,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9449:Ermard
|
UTSW |
17 |
15,273,554 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9506:Ermard
|
UTSW |
17 |
15,281,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Ermard
|
UTSW |
17 |
15,281,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Ermard
|
UTSW |
17 |
15,281,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTTTACCTGCCGGTCAC -3'
(R):5'- CACTGTAACTACTCTCTGAAAGGG -3'
Sequencing Primer
(F):5'- TCACTTGCTGAGGTGCCAC -3'
(R):5'- CTGCCTTGAACGTAACCT -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation