Incidental Mutation 'R0722:Ermard'
| ID |
63578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ermard
|
| Ensembl Gene |
ENSMUSG00000036552 |
| Gene Name |
ER membrane associated RNA degradation |
| Synonyms |
2210404J11Rik, 2410011O22Rik |
| MMRRC Submission |
038904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R0722 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
15261813-15310307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15242390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 189
(T189A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097395]
[ENSMUST00000097400]
[ENSMUST00000232446]
|
| AlphaFold |
E9Q048 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000097395
AA Change: T425A
|
| SMART Domains |
Protein: ENSMUSP00000095007
Gene: ENSMUSG00000116895
AA Change: T425A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4209
|
133 |
214 |
1.8e-27 |
PFAM |
|
low complexity region
|
390 |
399 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097400
|
| SMART Domains |
Protein: ENSMUSP00000095012
Gene: ENSMUSG00000079710
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tctex-1
|
91 |
190 |
2.1e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232446
AA Change: T189A
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
T |
C |
11: 80,047,810 (GRCm39) |
F89L |
possibly damaging |
Het |
| Akr1c13 |
A |
G |
13: 4,247,931 (GRCm39) |
|
probably null |
Het |
| Atp10a |
A |
G |
7: 58,465,931 (GRCm39) |
I1053V |
possibly damaging |
Het |
| Bmper |
G |
T |
9: 23,285,224 (GRCm39) |
V258L |
probably benign |
Het |
| Brd4 |
T |
C |
17: 32,431,956 (GRCm39) |
H636R |
possibly damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Ccbe1 |
C |
T |
18: 66,217,877 (GRCm39) |
C112Y |
probably damaging |
Het |
| Ccdc28b |
T |
A |
4: 129,514,945 (GRCm39) |
|
probably null |
Het |
| Cd320 |
T |
C |
17: 34,065,004 (GRCm39) |
S46P |
possibly damaging |
Het |
| Cfap251 |
T |
A |
5: 123,394,248 (GRCm39) |
V379E |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,225,039 (GRCm39) |
E95K |
possibly damaging |
Het |
| Clpp |
T |
C |
17: 57,299,901 (GRCm39) |
V144A |
probably damaging |
Het |
| Crtam |
A |
T |
9: 40,903,912 (GRCm39) |
C96S |
probably damaging |
Het |
| Dcst1 |
C |
T |
3: 89,261,112 (GRCm39) |
R480H |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,414,970 (GRCm39) |
|
probably benign |
Het |
| Gm10840 |
A |
G |
11: 106,051,902 (GRCm39) |
|
probably benign |
Het |
| Gm4845 |
T |
A |
1: 141,184,598 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr1 |
A |
G |
13: 12,420,918 (GRCm39) |
E403G |
probably benign |
Het |
| Herc4 |
A |
G |
10: 63,121,844 (GRCm39) |
I399V |
probably null |
Het |
| Htr1f |
A |
G |
16: 64,746,254 (GRCm39) |
I346T |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,934,382 (GRCm39) |
|
probably null |
Het |
| Jmy |
G |
A |
13: 93,589,325 (GRCm39) |
T644I |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
| Krt13 |
T |
G |
11: 100,009,979 (GRCm39) |
K297T |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,513,296 (GRCm39) |
|
probably null |
Het |
| Lrrc8b |
T |
C |
5: 105,627,978 (GRCm39) |
V108A |
possibly damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,727,414 (GRCm39) |
V26E |
probably damaging |
Het |
| Or10g6 |
A |
G |
9: 39,934,295 (GRCm39) |
D202G |
probably damaging |
Het |
| Or5p6 |
A |
G |
7: 107,631,541 (GRCm39) |
F3S |
probably benign |
Het |
| Pcna |
A |
G |
2: 132,093,155 (GRCm39) |
|
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,265,022 (GRCm39) |
R348* |
probably null |
Het |
| Pikfyve |
T |
G |
1: 65,292,682 (GRCm39) |
S1378A |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,064,892 (GRCm39) |
V472A |
probably benign |
Het |
| Pld5 |
A |
G |
1: 175,803,081 (GRCm39) |
F395L |
probably benign |
Het |
| Plekhb1 |
A |
T |
7: 100,294,810 (GRCm39) |
Y169N |
probably damaging |
Het |
| Polr2c |
T |
A |
8: 95,589,265 (GRCm39) |
Y186N |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prr5l |
A |
G |
2: 101,547,819 (GRCm39) |
|
probably benign |
Het |
| Ptbp2 |
C |
T |
3: 119,514,570 (GRCm39) |
R419Q |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,230,451 (GRCm39) |
V1038A |
probably damaging |
Het |
| Rassf2 |
A |
G |
2: 131,844,830 (GRCm39) |
V204A |
probably damaging |
Het |
| Slc22a22 |
T |
C |
15: 57,119,949 (GRCm39) |
|
probably null |
Het |
| Slit1 |
T |
C |
19: 41,596,874 (GRCm39) |
Y1075C |
probably damaging |
Het |
| Smc5 |
C |
A |
19: 23,186,291 (GRCm39) |
L1055F |
probably damaging |
Het |
| Spidr |
A |
G |
16: 15,730,645 (GRCm39) |
F620S |
probably damaging |
Het |
| Susd1 |
A |
G |
4: 59,379,749 (GRCm39) |
S293P |
possibly damaging |
Het |
| Tepsin |
A |
G |
11: 119,986,163 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,870,794 (GRCm39) |
L830I |
possibly damaging |
Het |
| Vtn |
A |
G |
11: 78,391,680 (GRCm39) |
|
probably benign |
Het |
| Zfp267 |
C |
T |
3: 36,219,218 (GRCm39) |
H414Y |
probably benign |
Het |
| Zfp280d |
T |
G |
9: 72,219,383 (GRCm39) |
S162A |
possibly damaging |
Het |
| Zfp608 |
T |
G |
18: 55,033,306 (GRCm39) |
K409T |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,643 (GRCm39) |
M116K |
probably benign |
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 |
|
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 |
|
R4383:Ermard
|
UTSW |
17 |
15,280,128 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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'- ATCTGCCCAGAACACTGACAGAATG -3'
(R):5'- TGCTCCATCAGTTTAGCAGGCAC -3'
Sequencing Primer
(F):5'- CAGAACACTGACAGAATGTTTCTC -3'
(R):5'- TGGTTTTTAACACTGACACTGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation