Incidental Mutation 'R1325:Echdc1'
| ID |
157188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Echdc1
|
| Ensembl Gene |
ENSMUSG00000019883 |
| Gene Name |
enoyl Coenzyme A hydratase domain containing 1 |
| Synonyms |
1700028A24Rik |
| MMRRC Submission |
039391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R1325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
29189162-29223465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29193544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 14
(T14S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020034]
[ENSMUST00000160399]
[ENSMUST00000161605]
|
| AlphaFold |
Q9D9V3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020034
AA Change: T37S
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
AA Change: T37S
| 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: ENSMUST00000160399
AA Change: T14S
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883
AA Change: T14S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
49 |
293 |
1.6e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161605
AA Change: T14S
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883
AA Change: T14S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
49 |
165 |
4.4e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215520
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,499,938 (GRCm39) |
I293T |
possibly damaging |
Het |
| Abca14 |
A |
G |
7: 119,846,545 (GRCm39) |
I666V |
probably benign |
Het |
| Acsl1 |
G |
A |
8: 46,966,337 (GRCm39) |
V164I |
probably benign |
Het |
| Aox3 |
C |
T |
1: 58,215,726 (GRCm39) |
Q1053* |
probably null |
Het |
| Arhgap31 |
A |
G |
16: 38,423,304 (GRCm39) |
S921P |
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,791,097 (GRCm39) |
M419T |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,235,516 (GRCm39) |
I145T |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,946,562 (GRCm39) |
V456A |
possibly damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,115 (GRCm39) |
T353A |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,617,381 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
G |
A |
10: 93,963,289 (GRCm39) |
R1129H |
probably damaging |
Het |
| Fstl1 |
A |
G |
16: 37,649,083 (GRCm39) |
D197G |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Krt1 |
A |
T |
15: 101,756,641 (GRCm39) |
|
probably null |
Het |
| Lrrc9 |
C |
A |
12: 72,543,878 (GRCm39) |
Q1116K |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,844 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or2j6 |
G |
A |
7: 139,980,794 (GRCm39) |
P55L |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,311,300 (GRCm39) |
E338G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,730,738 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R4540:Echdc1
|
UTSW |
10 |
29,220,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AGGGACATCCAGGTATCAGTAAGGC -3'
(R):5'- TGTGAAGAAGGCAGACCTCTCCTAC -3'
Sequencing Primer
(F):5'- gcatcactaaaagcccagcc -3'
(R):5'- CTCCTACCTGAGAAGGCATTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation