Incidental Mutation 'IGL03122:Echdc2'
| ID |
410024 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Echdc2
|
| Ensembl Gene |
ENSMUSG00000028601 |
| Gene Name |
enoyl Coenzyme A hydratase domain containing 2 |
| Synonyms |
1300017C12Rik, 2610009M20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL03122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108022634-108036505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108022777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 18
(S18T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052999]
[ENSMUST00000116307]
[ENSMUST00000116309]
[ENSMUST00000125647]
[ENSMUST00000130942]
|
| AlphaFold |
Q3TLP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052999
AA Change: S18T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000051268
Gene: ENSMUSG00000028601
AA Change: S18T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
41 |
296 |
1.1e-60 |
PFAM |
|
Pfam:ECH_2
|
46 |
225 |
5.1e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116307
AA Change: S18T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112009
Gene: ENSMUSG00000028601
AA Change: S18T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
39 |
131 |
6.7e-17 |
PFAM |
|
Pfam:ECH
|
124 |
257 |
5.3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116309
AA Change: S18T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112011
Gene: ENSMUSG00000028601
AA Change: S18T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
39 |
288 |
3.2e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123280
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125647
AA Change: S18T
|
| SMART Domains |
Protein: ENSMUSP00000123913
Gene: ENSMUSG00000028601
AA Change: S18T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130942
AA Change: S18T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124746
Gene: ENSMUSG00000028601
AA Change: S18T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
39 |
103 |
8.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135718
|
| SMART Domains |
Protein: ENSMUSP00000114371
Gene: ENSMUSG00000028601
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
1 |
74 |
9.6e-16 |
PFAM |
|
Pfam:ECH_2
|
2 |
74 |
1.1e-11 |
PFAM |
|
Pfam:ECH_1
|
69 |
184 |
2.8e-14 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
G |
A |
16: 56,590,725 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,866,902 (GRCm39) |
D719G |
probably benign |
Het |
| Amph |
C |
T |
13: 19,287,113 (GRCm39) |
T274M |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,469,414 (GRCm39) |
D396E |
possibly damaging |
Het |
| Atpaf1 |
T |
C |
4: 115,648,475 (GRCm39) |
I164T |
probably damaging |
Het |
| Avpr1b |
C |
A |
1: 131,528,257 (GRCm39) |
P260Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,189,305 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,741,963 (GRCm39) |
I449V |
probably damaging |
Het |
| Ccdc24 |
A |
G |
4: 117,728,942 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,798,243 (GRCm39) |
Q84R |
possibly damaging |
Het |
| Cenpk |
C |
A |
13: 104,378,885 (GRCm39) |
Q134K |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,438,007 (GRCm39) |
N373D |
probably damaging |
Het |
| Col7a1 |
T |
A |
9: 108,790,751 (GRCm39) |
S1042T |
unknown |
Het |
| Cry2 |
G |
A |
2: 92,243,640 (GRCm39) |
R439C |
probably damaging |
Het |
| Dip2a |
G |
T |
10: 76,110,880 (GRCm39) |
D1138E |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,089,018 (GRCm39) |
S205P |
possibly damaging |
Het |
| Efcab2 |
T |
A |
1: 178,265,042 (GRCm39) |
V36E |
probably damaging |
Het |
| Galk1 |
A |
T |
11: 115,901,065 (GRCm39) |
|
probably null |
Het |
| Hoxc11 |
A |
T |
15: 102,863,390 (GRCm39) |
N144Y |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,305,884 (GRCm39) |
C824S |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,570,663 (GRCm39) |
S401G |
probably benign |
Het |
| Kcnn1 |
T |
G |
8: 71,307,724 (GRCm39) |
D106A |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,943,959 (GRCm39) |
N754S |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,478,439 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
C |
11: 71,072,659 (GRCm39) |
C395G |
probably benign |
Het |
| Or2n1d |
T |
C |
17: 38,646,192 (GRCm39) |
V48A |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,461 (GRCm39) |
M71K |
probably damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,801 (GRCm39) |
M211V |
probably benign |
Het |
| Or9q1 |
A |
G |
19: 13,805,014 (GRCm39) |
S249P |
possibly damaging |
Het |
| Scel |
A |
G |
14: 103,836,842 (GRCm39) |
R477G |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,732,894 (GRCm39) |
S984P |
probably damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,782,040 (GRCm38) |
|
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,872 (GRCm39) |
S65P |
probably damaging |
Het |
| Tnip2 |
T |
C |
5: 34,661,095 (GRCm39) |
E119G |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,381,782 (GRCm39) |
L310M |
possibly damaging |
Het |
|
| Other mutations in Echdc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Echdc2
|
APN |
4 |
108,036,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03201:Echdc2
|
APN |
4 |
108,027,067 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
G1Funyon:Echdc2
|
UTSW |
4 |
108,030,106 (GRCm39) |
missense |
probably benign |
|
|
R1579:Echdc2
|
UTSW |
4 |
108,031,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1836:Echdc2
|
UTSW |
4 |
108,022,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4994:Echdc2
|
UTSW |
4 |
108,022,825 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5010:Echdc2
|
UTSW |
4 |
108,029,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5111:Echdc2
|
UTSW |
4 |
108,026,994 (GRCm39) |
splice site |
probably benign |
|
|
R5880:Echdc2
|
UTSW |
4 |
108,030,097 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7175:Echdc2
|
UTSW |
4 |
108,031,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Echdc2
|
UTSW |
4 |
108,031,274 (GRCm39) |
missense |
probably benign |
|
|
R7700:Echdc2
|
UTSW |
4 |
108,031,274 (GRCm39) |
missense |
probably benign |
|
|
R8301:Echdc2
|
UTSW |
4 |
108,030,106 (GRCm39) |
missense |
probably benign |
|
|
R8707:Echdc2
|
UTSW |
4 |
108,031,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9086:Echdc2
|
UTSW |
4 |
108,027,076 (GRCm39) |
nonsense |
probably null |
|
|
R9367:Echdc2
|
UTSW |
4 |
108,036,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation