Incidental Mutation 'R4540:Echdc1'
| ID |
333495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Echdc1
|
| Ensembl Gene |
ENSMUSG00000019883 |
| Gene Name |
enoyl Coenzyme A hydratase domain containing 1 |
| Synonyms |
1700028A24Rik |
| MMRRC Submission |
041776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R4540 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
29189162-29223465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29220578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 245
(V245I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020034]
[ENSMUST00000037548]
[ENSMUST00000160144]
[ENSMUST00000160372]
[ENSMUST00000160399]
[ENSMUST00000161508]
[ENSMUST00000161605]
[ENSMUST00000162335]
[ENSMUST00000214896]
|
| AlphaFold |
Q9D9V3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020034
AA Change: V268I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
AA Change: V268I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
74 |
307 |
4.8e-39 |
PFAM |
|
Pfam:ECH_2
|
79 |
321 |
4.5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037548
|
| SMART Domains |
Protein: ENSMUSP00000037224
Gene: ENSMUSG00000038876
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
38 |
75 |
1.79e-6 |
SMART |
|
WWE
|
102 |
177 |
4.93e-35 |
SMART |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160144
|
| SMART Domains |
Protein: ENSMUSP00000124288
Gene: ENSMUSG00000038876
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
38 |
75 |
1.79e-6 |
SMART |
|
WWE
|
102 |
177 |
4.93e-35 |
SMART |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160372
|
| SMART Domains |
Protein: ENSMUSP00000124215
Gene: ENSMUSG00000038876
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
38 |
75 |
1.79e-6 |
SMART |
|
WWE
|
102 |
177 |
4.93e-35 |
SMART |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160399
AA Change: V245I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883
AA Change: V245I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
49 |
293 |
1.6e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161508
|
| SMART Domains |
Protein: ENSMUSP00000124814
Gene: ENSMUSG00000038876
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
38 |
75 |
1.79e-6 |
SMART |
|
WWE
|
102 |
177 |
4.93e-35 |
SMART |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161605
|
| SMART Domains |
Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
49 |
165 |
4.4e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162335
|
| SMART Domains |
Protein: ENSMUSP00000124772
Gene: ENSMUSG00000038876
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
38 |
75 |
1.79e-6 |
SMART |
|
WWE
|
102 |
177 |
4.93e-35 |
SMART |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214896
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,119 (GRCm39) |
H164L |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,038,790 (GRCm39) |
R31S |
possibly damaging |
Het |
| Baiap3 |
C |
T |
17: 25,465,644 (GRCm39) |
V585M |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,621,267 (GRCm39) |
S391P |
probably damaging |
Het |
| Ccdc51 |
T |
C |
9: 108,921,288 (GRCm39) |
F392L |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,904,012 (GRCm39) |
I194T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,992 (GRCm39) |
K806E |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,652,709 (GRCm39) |
E726G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,815 (GRCm39) |
Y384C |
unknown |
Het |
| Cops3 |
A |
T |
11: 59,720,980 (GRCm39) |
L145H |
probably damaging |
Het |
| Cul9 |
C |
T |
17: 46,814,015 (GRCm39) |
M2286I |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,782,009 (GRCm39) |
M261L |
probably benign |
Het |
| Gm4353 |
A |
G |
7: 115,683,212 (GRCm39) |
L123P |
probably benign |
Het |
| Hcfc2 |
G |
C |
10: 82,568,481 (GRCm39) |
E42Q |
probably benign |
Het |
| Hfm1 |
A |
C |
5: 107,022,087 (GRCm39) |
Y199* |
probably null |
Het |
| Iba57 |
G |
A |
11: 59,053,904 (GRCm39) |
|
probably benign |
Het |
| Ihh |
T |
A |
1: 74,987,558 (GRCm39) |
N161I |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,530 (GRCm39) |
S789P |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,343 (GRCm39) |
C877* |
probably null |
Het |
| Lhcgr |
A |
G |
17: 89,063,036 (GRCm39) |
I212T |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,346,199 (GRCm39) |
T368S |
probably benign |
Het |
| Mag |
A |
C |
7: 30,600,154 (GRCm39) |
V500G |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,356,960 (GRCm39) |
V512A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,442,725 (GRCm39) |
C759Y |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,925 (GRCm39) |
|
probably null |
Het |
| Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,546 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,064,680 (GRCm39) |
D448A |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,605,506 (GRCm39) |
|
probably null |
Het |
| Pth2r |
A |
G |
1: 65,321,360 (GRCm39) |
N13S |
probably benign |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
A |
G |
5: 30,461,085 (GRCm39) |
D107G |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,995,697 (GRCm39) |
P1779S |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,115,063 (GRCm39) |
E365G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,922,309 (GRCm39) |
T2374I |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,726,997 (GRCm39) |
I1T |
probably damaging |
Het |
|
| Other mutations in Echdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00818:Echdc1
|
APN |
10 |
29,193,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03106:Echdc1
|
APN |
10 |
29,198,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Echdc1
|
APN |
10 |
29,207,836 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0016:Echdc1
|
UTSW |
10 |
29,198,417 (GRCm39) |
splice site |
probably benign |
|
|
R0016:Echdc1
|
UTSW |
10 |
29,198,417 (GRCm39) |
splice site |
probably benign |
|
|
R1325:Echdc1
|
UTSW |
10 |
29,193,544 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1850:Echdc1
|
UTSW |
10 |
29,220,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Echdc1
|
UTSW |
10 |
29,198,360 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5310:Echdc1
|
UTSW |
10 |
29,210,204 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6356:Echdc1
|
UTSW |
10 |
29,220,522 (GRCm39) |
splice site |
probably null |
|
|
R6569:Echdc1
|
UTSW |
10 |
29,198,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6606:Echdc1
|
UTSW |
10 |
29,189,711 (GRCm39) |
missense |
probably benign |
|
|
R8439:Echdc1
|
UTSW |
10 |
29,210,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9007:Echdc1
|
UTSW |
10 |
29,220,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGGGTATAGTTCCAAGCTGG -3'
(R):5'- TGCAGCTTCACCTGTACTAC -3'
Sequencing Primer
(F):5'- TTCCAAGCTGGGGTGGTACC -3'
(R):5'- CCTGTACTACACTCATTTTAAAGGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation