Incidental Mutation 'IGL01832:Ermard'
ID |
154810 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ermard
|
Ensembl Gene |
ENSMUSG00000036552 |
Gene Name |
ER membrane associated RNA degradation |
Synonyms |
2210404J11Rik, 2410011O22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.195)
|
Stock # |
IGL01832
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
15261813-15310307 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15280111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 87
(V87A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040594]
[ENSMUST00000097393]
[ENSMUST00000227252]
[ENSMUST00000228803]
|
AlphaFold |
E9Q048 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040594
AA Change: V87A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000043677 Gene: ENSMUSG00000036552 AA Change: V87A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097393
AA Change: V535A
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000095005 Gene: ENSMUSG00000036552 AA Change: V535A
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: V124A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231241
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231568
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
G |
A |
8: 77,985,758 (GRCm39) |
T681I |
probably benign |
Het |
Atg4b |
T |
C |
1: 93,713,626 (GRCm39) |
|
probably benign |
Het |
Atp10b |
T |
A |
11: 43,125,262 (GRCm39) |
M1076K |
probably damaging |
Het |
Atp23 |
A |
T |
10: 126,730,214 (GRCm39) |
N111K |
probably damaging |
Het |
Atxn2 |
C |
A |
5: 121,944,331 (GRCm39) |
Y72* |
probably null |
Het |
C1qtnf12 |
A |
G |
4: 156,050,323 (GRCm39) |
D220G |
probably damaging |
Het |
C2cd3 |
A |
T |
7: 100,076,421 (GRCm39) |
T1171S |
possibly damaging |
Het |
Ccdc15 |
G |
A |
9: 37,222,640 (GRCm39) |
R585W |
probably damaging |
Het |
Cep152 |
A |
C |
2: 125,460,414 (GRCm39) |
Y179* |
probably null |
Het |
Cpa2 |
T |
C |
6: 30,551,998 (GRCm39) |
S242P |
probably benign |
Het |
Ctps2 |
G |
T |
X: 161,719,699 (GRCm39) |
|
probably benign |
Het |
Cttnbp2nl |
A |
G |
3: 104,918,544 (GRCm39) |
S99P |
probably damaging |
Het |
Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
Erbb4 |
T |
C |
1: 68,293,725 (GRCm39) |
K722R |
possibly damaging |
Het |
Ercc8 |
A |
G |
13: 108,305,993 (GRCm39) |
T123A |
probably damaging |
Het |
Fkbp8 |
A |
G |
8: 70,984,195 (GRCm39) |
H182R |
probably benign |
Het |
Gab2 |
T |
C |
7: 96,953,445 (GRCm39) |
L606P |
probably damaging |
Het |
Gls |
C |
T |
1: 52,207,568 (GRCm39) |
|
probably null |
Het |
Hook3 |
A |
T |
8: 26,562,393 (GRCm39) |
M224K |
possibly damaging |
Het |
Itga5 |
T |
A |
15: 103,264,376 (GRCm39) |
K298* |
probably null |
Het |
Itprid2 |
G |
A |
2: 79,481,762 (GRCm39) |
V481M |
possibly damaging |
Het |
Lrrc74a |
C |
A |
12: 86,808,488 (GRCm39) |
T422K |
probably benign |
Het |
Myh9 |
A |
C |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
Ndrg4 |
A |
G |
8: 96,439,947 (GRCm39) |
E349G |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,820,513 (GRCm39) |
D19E |
probably benign |
Het |
Otop2 |
T |
C |
11: 115,217,769 (GRCm39) |
S202P |
probably benign |
Het |
Plppr2 |
C |
A |
9: 21,854,742 (GRCm39) |
R138S |
possibly damaging |
Het |
Prkaca |
A |
C |
8: 84,717,366 (GRCm39) |
K206N |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,370,666 (GRCm39) |
T589I |
possibly damaging |
Het |
Ptprq |
A |
G |
10: 107,401,700 (GRCm39) |
|
probably null |
Het |
Slc16a5 |
T |
C |
11: 115,355,827 (GRCm39) |
V96A |
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,707,620 (GRCm39) |
K1047E |
probably damaging |
Het |
Tinag |
T |
C |
9: 76,939,038 (GRCm39) |
K147E |
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,325 (GRCm39) |
T338A |
probably damaging |
Het |
Wdr74 |
C |
T |
19: 8,717,302 (GRCm39) |
R299C |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,765,892 (GRCm39) |
S1473L |
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 |
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 |
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 |
|
Posted On |
2014-02-04 |