Incidental Mutation 'R7950:Ecel1'
| ID |
649492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ecel1
|
| Ensembl Gene |
ENSMUSG00000026247 |
| Gene Name |
endothelin converting enzyme-like 1 |
| Synonyms |
XCE, DINE |
| MMRRC Submission |
045995-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7950 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87075377-87084243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87075991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 729
(Y729N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027463]
[ENSMUST00000160810]
[ENSMUST00000161002]
|
| AlphaFold |
Q9JMI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027463
AA Change: Y729N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: Y729N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
54 |
N/A |
INTRINSIC |
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
102 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
124 |
513 |
6.4e-112 |
PFAM |
|
Pfam:Peptidase_M13
|
571 |
774 |
5.2e-66 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160810
AA Change: Y729N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: Y729N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
54 |
N/A |
INTRINSIC |
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
102 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
124 |
513 |
1.2e-98 |
PFAM |
|
Pfam:Peptidase_M13
|
571 |
774 |
2.3e-72 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161002
AA Change: Y729N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: Y729N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
54 |
N/A |
INTRINSIC |
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
102 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
124 |
513 |
6.4e-112 |
PFAM |
|
Pfam:Peptidase_M13
|
571 |
774 |
5.2e-66 |
PFAM |
|
| Meta Mutation Damage Score |
0.2653 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Targeted mutations of this gene result in respiratory distress causing neonatal lethality due to reduced diaphram innervation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
G |
A |
17: 43,762,048 (GRCm39) |
V1248M |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,620,323 (GRCm39) |
S478P |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,886,039 (GRCm39) |
S698P |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,859 (GRCm39) |
T537A |
possibly damaging |
Het |
| Arl6 |
A |
T |
16: 59,439,094 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
A |
T |
16: 29,268,735 (GRCm39) |
W540R |
|
Het |
| Birc6 |
A |
T |
17: 74,900,095 (GRCm39) |
D1091V |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
| C130074G19Rik |
T |
C |
1: 184,606,571 (GRCm39) |
|
probably null |
Het |
| C1ql4 |
T |
A |
15: 98,982,693 (GRCm39) |
H220L |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,028,363 (GRCm39) |
N1147S |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,852,638 (GRCm39) |
|
probably null |
Het |
| Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
| Cfap410 |
C |
T |
10: 77,815,601 (GRCm39) |
T31I |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,483,833 (GRCm39) |
I59F |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,390,074 (GRCm39) |
K221E |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,456,381 (GRCm39) |
E2193G |
possibly damaging |
Het |
| Galnt10 |
C |
G |
11: 57,674,549 (GRCm39) |
P513A |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,798,190 (GRCm39) |
Y139H |
|
Het |
| Golgb1 |
A |
C |
16: 36,735,786 (GRCm39) |
I1719L |
probably benign |
Het |
| Hsf1 |
T |
C |
15: 76,382,393 (GRCm39) |
S255P |
probably benign |
Het |
| Ighv2-2 |
T |
C |
12: 113,551,914 (GRCm39) |
D108G |
probably damaging |
Het |
| Iho1 |
T |
C |
9: 108,282,870 (GRCm39) |
T273A |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,316,878 (GRCm39) |
Q10* |
probably null |
Het |
| Kcnh2 |
C |
T |
5: 24,538,034 (GRCm39) |
V110M |
probably benign |
Het |
| Magi3 |
A |
C |
3: 103,924,005 (GRCm39) |
L1112W |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 16,132,879 (GRCm39) |
D1933E |
unknown |
Het |
| Mki67 |
G |
A |
7: 135,301,453 (GRCm39) |
R1194* |
probably null |
Het |
| Nap1l1 |
T |
C |
10: 111,328,769 (GRCm39) |
Y233H |
probably damaging |
Het |
| Napsa |
A |
G |
7: 44,234,758 (GRCm39) |
I298V |
probably benign |
Het |
| Nkx6-1 |
A |
T |
5: 101,811,465 (GRCm39) |
S212R |
probably damaging |
Het |
| Nlrc4 |
A |
T |
17: 74,752,610 (GRCm39) |
I591N |
probably damaging |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,431 (GRCm39) |
I35T |
possibly damaging |
Het |
| Orc2 |
T |
C |
1: 58,506,827 (GRCm39) |
D503G |
possibly damaging |
Het |
| Osbp |
T |
A |
19: 11,955,612 (GRCm39) |
S343T |
probably benign |
Het |
| Pcdha6 |
T |
G |
18: 37,102,479 (GRCm39) |
D557E |
probably damaging |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Ppdpf |
A |
G |
2: 180,829,650 (GRCm39) |
Y35C |
probably benign |
Het |
| Scrn2 |
T |
A |
11: 96,921,755 (GRCm39) |
L75Q |
probably damaging |
Het |
| Scube3 |
G |
A |
17: 28,390,200 (GRCm39) |
V955I |
probably benign |
Het |
| Slc1a1 |
T |
C |
19: 28,889,161 (GRCm39) |
V478A |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,206,137 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
T |
C |
17: 24,027,084 (GRCm39) |
L96P |
unknown |
Het |
| Strn |
A |
T |
17: 78,977,852 (GRCm39) |
L175Q |
|
Het |
|
| Other mutations in Ecel1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01161:Ecel1
|
APN |
1 |
87,080,915 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01431:Ecel1
|
APN |
1 |
87,079,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01992:Ecel1
|
APN |
1 |
87,077,577 (GRCm39) |
splice site |
probably benign |
|
|
IGL02040:Ecel1
|
APN |
1 |
87,082,645 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02230:Ecel1
|
APN |
1 |
87,079,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Ecel1
|
APN |
1 |
87,079,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Capulin
|
UTSW |
1 |
87,081,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0139:Ecel1
|
UTSW |
1 |
87,082,248 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1723:Ecel1
|
UTSW |
1 |
87,082,143 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2118:Ecel1
|
UTSW |
1 |
87,075,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Ecel1
|
UTSW |
1 |
87,075,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Ecel1
|
UTSW |
1 |
87,075,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2122:Ecel1
|
UTSW |
1 |
87,075,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Ecel1
|
UTSW |
1 |
87,080,622 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3836:Ecel1
|
UTSW |
1 |
87,078,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Ecel1
|
UTSW |
1 |
87,079,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Ecel1
|
UTSW |
1 |
87,080,668 (GRCm39) |
splice site |
probably null |
|
|
R4841:Ecel1
|
UTSW |
1 |
87,081,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4842:Ecel1
|
UTSW |
1 |
87,081,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4888:Ecel1
|
UTSW |
1 |
87,076,449 (GRCm39) |
splice site |
probably benign |
|
|
R4976:Ecel1
|
UTSW |
1 |
87,078,861 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5032:Ecel1
|
UTSW |
1 |
87,081,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5119:Ecel1
|
UTSW |
1 |
87,078,861 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5393:Ecel1
|
UTSW |
1 |
87,080,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5798:Ecel1
|
UTSW |
1 |
87,079,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:Ecel1
|
UTSW |
1 |
87,077,318 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5874:Ecel1
|
UTSW |
1 |
87,075,731 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6341:Ecel1
|
UTSW |
1 |
87,078,193 (GRCm39) |
splice site |
probably null |
|
|
R6351:Ecel1
|
UTSW |
1 |
87,077,231 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6534:Ecel1
|
UTSW |
1 |
87,082,564 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7405:Ecel1
|
UTSW |
1 |
87,081,238 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7422:Ecel1
|
UTSW |
1 |
87,077,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Ecel1
|
UTSW |
1 |
87,079,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7939:Ecel1
|
UTSW |
1 |
87,077,256 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8022:Ecel1
|
UTSW |
1 |
87,081,052 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8856:Ecel1
|
UTSW |
1 |
87,079,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Ecel1
|
UTSW |
1 |
87,076,349 (GRCm39) |
nonsense |
probably null |
|
|
R8967:Ecel1
|
UTSW |
1 |
87,078,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9248:Ecel1
|
UTSW |
1 |
87,081,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9395:Ecel1
|
UTSW |
1 |
87,082,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9487:Ecel1
|
UTSW |
1 |
87,075,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Ecel1
|
UTSW |
1 |
87,080,853 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9676:Ecel1
|
UTSW |
1 |
87,079,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Ecel1
|
UTSW |
1 |
87,080,853 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTCAAACTGGGATACGC -3'
(R):5'- TCACATGAGCATCTCCAGGG -3'
Sequencing Primer
(F):5'- TCAAACTGGGATACGCTGCCC -3'
(R):5'- TGAGCATCTCCAGGGCTCAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation