Incidental Mutation 'IGL02034:Ermp1'
| ID |
184477 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ermp1
|
| Ensembl Gene |
ENSMUSG00000046324 |
| Gene Name |
endoplasmic reticulum metallopeptidase 1 |
| Synonyms |
D19Wsu12e, D19Ertd410e, b2b2633Clo |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02034
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
29587276-29625815 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 29623359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054083]
[ENSMUST00000159692]
[ENSMUST00000162534]
|
| AlphaFold |
Q3UVK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054083
|
| SMART Domains |
Protein: ENSMUSP00000057069
Gene: ENSMUSG00000046324
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1amp__
|
31 |
159 |
3e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159243
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159692
|
| SMART Domains |
Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
94 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M28
|
179 |
373 |
1.3e-49 |
PFAM |
|
Pfam:Peptidase_M20
|
184 |
375 |
2.9e-8 |
PFAM |
|
transmembrane domain
|
405 |
427 |
N/A |
INTRINSIC |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
481 |
503 |
N/A |
INTRINSIC |
|
transmembrane domain
|
516 |
538 |
N/A |
INTRINSIC |
|
transmembrane domain
|
543 |
562 |
N/A |
INTRINSIC |
|
transmembrane domain
|
575 |
597 |
N/A |
INTRINSIC |
|
transmembrane domain
|
617 |
639 |
N/A |
INTRINSIC |
|
transmembrane domain
|
646 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160907
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162534
|
| SMART Domains |
Protein: ENSMUSP00000124992
Gene: ENSMUSG00000046324
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M28
|
5 |
176 |
2.4e-40 |
PFAM |
|
Pfam:Peptidase_M20
|
8 |
168 |
1.3e-8 |
PFAM |
|
transmembrane domain
|
218 |
240 |
N/A |
INTRINSIC |
|
transmembrane domain
|
257 |
279 |
N/A |
INTRINSIC |
|
transmembrane domain
|
294 |
316 |
N/A |
INTRINSIC |
|
transmembrane domain
|
329 |
351 |
N/A |
INTRINSIC |
|
transmembrane domain
|
356 |
375 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcor |
A |
G |
X: 11,905,498 (GRCm39) |
S1556P |
possibly damaging |
Het |
| Brd10 |
A |
G |
19: 29,694,259 (GRCm39) |
S1745P |
possibly damaging |
Het |
| Ccdc6 |
T |
A |
10: 70,004,978 (GRCm39) |
I241N |
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,619,986 (GRCm39) |
I48T |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,837,118 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,897,347 (GRCm39) |
M264V |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,221,043 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
A |
G |
5: 87,843,941 (GRCm39) |
|
probably benign |
Het |
| Cyfip1 |
G |
A |
7: 55,548,101 (GRCm39) |
R567Q |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,235,486 (GRCm39) |
|
probably null |
Het |
| Erv3 |
C |
T |
2: 131,697,934 (GRCm39) |
V142I |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,495,730 (GRCm39) |
N58S |
probably damaging |
Het |
| Gcm2 |
G |
A |
13: 41,259,269 (GRCm39) |
R67C |
probably damaging |
Het |
| Gm17019 |
A |
G |
5: 15,080,266 (GRCm39) |
I182T |
possibly damaging |
Het |
| Gpr45 |
T |
C |
1: 43,072,478 (GRCm39) |
*374Q |
probably null |
Het |
| Haus8 |
T |
C |
8: 71,708,202 (GRCm39) |
N165S |
probably damaging |
Het |
| Hoxd4 |
T |
A |
2: 74,558,750 (GRCm39) |
L191Q |
probably damaging |
Het |
| I830077J02Rik |
A |
G |
3: 105,834,565 (GRCm39) |
|
probably benign |
Het |
| Lpl |
T |
C |
8: 69,333,424 (GRCm39) |
L7P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,158,382 (GRCm39) |
K1612* |
probably null |
Het |
| Myh14 |
G |
T |
7: 44,265,717 (GRCm39) |
A1546D |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,875,577 (GRCm39) |
S1698P |
probably damaging |
Het |
| Or10p22 |
A |
T |
10: 128,826,570 (GRCm39) |
Q263L |
probably benign |
Het |
| Or4c112 |
C |
T |
2: 88,854,015 (GRCm39) |
V111M |
probably benign |
Het |
| Or52e7 |
C |
A |
7: 104,684,597 (GRCm39) |
T64N |
probably benign |
Het |
| Or5p51 |
G |
A |
7: 107,444,385 (GRCm39) |
T185I |
probably benign |
Het |
| Otog |
A |
T |
7: 45,945,417 (GRCm39) |
K40* |
probably null |
Het |
| Rgma |
C |
A |
7: 73,067,181 (GRCm39) |
H145Q |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,977,776 (GRCm39) |
|
probably null |
Het |
| Ssxb2 |
T |
A |
X: 8,324,743 (GRCm39) |
|
probably benign |
Het |
| Tmem175 |
C |
T |
5: 108,790,002 (GRCm39) |
T118I |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,498,808 (GRCm39) |
V542A |
probably benign |
Het |
| Zfp977 |
G |
A |
7: 42,230,136 (GRCm39) |
P130S |
probably damaging |
Het |
|
| Other mutations in Ermp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01613:Ermp1
|
APN |
19 |
29,617,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01696:Ermp1
|
APN |
19 |
29,623,538 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01759:Ermp1
|
APN |
19 |
29,593,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01891:Ermp1
|
APN |
19 |
29,594,002 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02008:Ermp1
|
APN |
19 |
29,590,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02655:Ermp1
|
APN |
19 |
29,623,610 (GRCm39) |
nonsense |
probably null |
|
|
IGL03074:Ermp1
|
APN |
19 |
29,589,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4366001:Ermp1
|
UTSW |
19 |
29,606,189 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0050:Ermp1
|
UTSW |
19 |
29,606,184 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0050:Ermp1
|
UTSW |
19 |
29,606,184 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0096:Ermp1
|
UTSW |
19 |
29,608,788 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0096:Ermp1
|
UTSW |
19 |
29,608,788 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0361:Ermp1
|
UTSW |
19 |
29,608,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0684:Ermp1
|
UTSW |
19 |
29,609,941 (GRCm39) |
splice site |
probably benign |
|
|
R0711:Ermp1
|
UTSW |
19 |
29,608,788 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1167:Ermp1
|
UTSW |
19 |
29,606,079 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1869:Ermp1
|
UTSW |
19 |
29,623,415 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1884:Ermp1
|
UTSW |
19 |
29,594,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2094:Ermp1
|
UTSW |
19 |
29,617,328 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2135:Ermp1
|
UTSW |
19 |
29,623,465 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2153:Ermp1
|
UTSW |
19 |
29,614,798 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2290:Ermp1
|
UTSW |
19 |
29,601,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Ermp1
|
UTSW |
19 |
29,623,365 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4363:Ermp1
|
UTSW |
19 |
29,590,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Ermp1
|
UTSW |
19 |
29,594,051 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4761:Ermp1
|
UTSW |
19 |
29,623,656 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5801:Ermp1
|
UTSW |
19 |
29,590,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:Ermp1
|
UTSW |
19 |
29,593,129 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6129:Ermp1
|
UTSW |
19 |
29,600,609 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6556:Ermp1
|
UTSW |
19 |
29,590,321 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6563:Ermp1
|
UTSW |
19 |
29,601,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6598:Ermp1
|
UTSW |
19 |
29,609,902 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6647:Ermp1
|
UTSW |
19 |
29,604,335 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6850:Ermp1
|
UTSW |
19 |
29,594,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Ermp1
|
UTSW |
19 |
29,594,011 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7341:Ermp1
|
UTSW |
19 |
29,623,654 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7391:Ermp1
|
UTSW |
19 |
29,604,469 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7391:Ermp1
|
UTSW |
19 |
29,604,468 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7463:Ermp1
|
UTSW |
19 |
29,623,662 (GRCm39) |
nonsense |
probably null |
|
|
R7471:Ermp1
|
UTSW |
19 |
29,590,054 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7831:Ermp1
|
UTSW |
19 |
29,595,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7836:Ermp1
|
UTSW |
19 |
29,609,788 (GRCm39) |
splice site |
probably null |
|
|
R7923:Ermp1
|
UTSW |
19 |
29,606,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8113:Ermp1
|
UTSW |
19 |
29,593,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8116:Ermp1
|
UTSW |
19 |
29,601,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8692:Ermp1
|
UTSW |
19 |
29,594,093 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9083:Ermp1
|
UTSW |
19 |
29,623,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9180:Ermp1
|
UTSW |
19 |
29,609,845 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9292:Ermp1
|
UTSW |
19 |
29,606,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9460:Ermp1
|
UTSW |
19 |
29,609,916 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9613:Ermp1
|
UTSW |
19 |
29,617,256 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9684:Ermp1
|
UTSW |
19 |
29,594,106 (GRCm39) |
missense |
probably benign |
0.45 |
|
Z1088:Ermp1
|
UTSW |
19 |
29,590,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation