Incidental Mutation 'R9292:Ermp1'
| ID |
704367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ermp1
|
| Ensembl Gene |
ENSMUSG00000046324 |
| Gene Name |
endoplasmic reticulum metallopeptidase 1 |
| Synonyms |
D19Wsu12e, D19Ertd410e, b2b2633Clo |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
29587276-29625815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29606049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 422
(V422L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124881
(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 |
probably benign
Transcript: ENSMUST00000159692
AA Change: V422L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: V422L
| 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 |
probably benign
Transcript: ENSMUST00000162534
AA Change: V235L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124992
Gene: ENSMUSG00000046324
AA Change: V235L
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
T |
5: 8,862,843 (GRCm39) |
T175I |
probably benign |
Het |
| Acat3 |
T |
C |
17: 13,146,255 (GRCm39) |
T243A |
probably benign |
Het |
| Aebp1 |
C |
A |
11: 5,815,260 (GRCm39) |
P264Q |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,568,867 (GRCm39) |
F723L |
probably damaging |
Het |
| Atp13a4 |
T |
A |
16: 29,241,500 (GRCm39) |
I723F |
|
Het |
| Bop1 |
T |
C |
15: 76,351,031 (GRCm39) |
T97A |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,043,114 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,832,688 (GRCm39) |
E1538K |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,585,805 (GRCm39) |
V1218E |
probably benign |
Het |
| Coq10b |
T |
A |
1: 55,110,868 (GRCm39) |
M212K |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,403,120 (GRCm39) |
T3141A |
probably damaging |
Het |
| Dnajc10 |
A |
G |
2: 80,176,916 (GRCm39) |
T624A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,160,995 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,416,775 (GRCm39) |
V892E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,921,382 (GRCm39) |
R1370G |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,784,429 (GRCm39) |
|
probably null |
Het |
| Erc2 |
T |
A |
14: 27,498,799 (GRCm39) |
I225N |
probably damaging |
Het |
| Fam124b |
T |
A |
1: 80,191,221 (GRCm39) |
H54L |
probably benign |
Het |
| Gabbr1 |
T |
G |
17: 37,366,784 (GRCm39) |
I336S |
possibly damaging |
Het |
| Galk2 |
T |
C |
2: 125,817,218 (GRCm39) |
Y336H |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,692,037 (GRCm39) |
F194S |
probably damaging |
Het |
| Gtf2a1 |
G |
A |
12: 91,534,964 (GRCm39) |
Q189* |
probably null |
Het |
| Gtf3c1 |
T |
C |
7: 125,273,563 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,452,047 (GRCm39) |
E247G |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,486,558 (GRCm39) |
R238G |
probably benign |
Het |
| Ltbp1 |
C |
A |
17: 75,583,436 (GRCm39) |
S412Y |
probably damaging |
Het |
| Nup210 |
A |
C |
6: 91,051,235 (GRCm39) |
S383A |
possibly damaging |
Het |
| Or10j3 |
C |
T |
1: 173,031,099 (GRCm39) |
P59S |
probably damaging |
Het |
| Or11g2 |
T |
C |
14: 50,856,513 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or8b51 |
T |
A |
9: 38,569,071 (GRCm39) |
N206Y |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,403,218 (GRCm39) |
Y198N |
probably damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,819,713 (GRCm39) |
I421L |
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,536,751 (GRCm39) |
I149T |
probably benign |
Het |
| Peli3 |
G |
A |
19: 4,988,117 (GRCm39) |
P81L |
possibly damaging |
Het |
| Pfdn5 |
T |
C |
15: 102,234,883 (GRCm39) |
S30P |
possibly damaging |
Het |
| Plcb3 |
A |
T |
19: 6,942,042 (GRCm39) |
L263Q |
probably damaging |
Het |
| Pld3 |
T |
C |
7: 27,238,879 (GRCm39) |
M190V |
probably benign |
Het |
| Rab6a |
A |
G |
7: 100,285,963 (GRCm39) |
E186G |
probably benign |
Het |
| Ralyl |
T |
A |
3: 14,172,312 (GRCm39) |
D60E |
probably benign |
Het |
| Rtl1 |
G |
A |
12: 109,556,673 (GRCm39) |
A1722V |
possibly damaging |
Het |
| Scarf1 |
T |
C |
11: 75,406,006 (GRCm39) |
Y97H |
probably damaging |
Het |
| Sf3a2 |
T |
A |
10: 80,640,560 (GRCm39) |
V457E |
unknown |
Het |
| Sh2d4b |
C |
G |
14: 40,537,914 (GRCm39) |
E403Q |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,932,707 (GRCm39) |
E65G |
possibly damaging |
Het |
| Spink5 |
T |
C |
18: 44,148,075 (GRCm39) |
V905A |
possibly damaging |
Het |
| Spred1 |
T |
C |
2: 117,005,832 (GRCm39) |
F198S |
probably benign |
Het |
| St18 |
C |
A |
1: 6,898,106 (GRCm39) |
T636K |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,299,712 (GRCm39) |
D874E |
probably benign |
Het |
| Suco |
T |
C |
1: 161,671,574 (GRCm39) |
T502A |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,278,787 (GRCm39) |
I457V |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,997,823 (GRCm39) |
C2266F |
probably benign |
Het |
| Tcirg1 |
T |
C |
19: 3,947,840 (GRCm39) |
N532D |
probably damaging |
Het |
| Tfdp1 |
T |
A |
8: 13,420,580 (GRCm39) |
N136K |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,926,173 (GRCm39) |
|
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,937,979 (GRCm39) |
I190V |
probably benign |
Het |
| Trp53bp1 |
C |
T |
2: 121,046,177 (GRCm39) |
V1208M |
probably damaging |
Het |
| Tulp1 |
T |
A |
17: 28,582,738 (GRCm39) |
K137* |
probably null |
Het |
| Zfp534 |
A |
T |
4: 147,759,095 (GRCm39) |
C525S |
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 |
|
IGL02034:Ermp1
|
APN |
19 |
29,623,359 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCTCAAAGGTAAGGAGC -3'
(R):5'- TGCGTCTGTATGTGGAAGTCAC -3'
Sequencing Primer
(F):5'- AGGTAAGGAGCATACCAACTTC -3'
(R):5'- GTCACAATGGAGTAGCTTACTAGACC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation