Incidental Mutation 'R6569:Echdc1'
| ID |
526194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Echdc1
|
| Ensembl Gene |
ENSMUSG00000019883 |
| Gene Name |
enoyl Coenzyme A hydratase domain containing 1 |
| Synonyms |
1700028A24Rik |
| MMRRC Submission |
044693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R6569 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
29189162-29223465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29198280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 75
(M75T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020034]
[ENSMUST00000160399]
[ENSMUST00000161605]
|
| AlphaFold |
Q9D9V3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020034
AA Change: M98T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
AA Change: M98T
| 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 damaging
Transcript: ENSMUST00000160399
AA Change: M75T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883
AA Change: M75T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
49 |
293 |
1.6e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161426
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161605
AA Change: M75T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883
AA Change: M75T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
49 |
165 |
4.4e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
A |
6: 85,618,321 (GRCm39) |
V2789D |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,133,560 (GRCm39) |
T567A |
probably damaging |
Het |
| Col7a1 |
T |
G |
9: 108,807,178 (GRCm39) |
|
probably null |
Het |
| Crb2 |
A |
T |
2: 37,682,163 (GRCm39) |
Q173L |
probably damaging |
Het |
| Cuzd1 |
T |
C |
7: 130,913,486 (GRCm39) |
Y377C |
probably damaging |
Het |
| Faah |
G |
T |
4: 115,874,829 (GRCm39) |
A9E |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 34,991,163 (GRCm39) |
D627G |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,045,296 (GRCm39) |
V380F |
possibly damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,394 (GRCm39) |
Y239C |
probably damaging |
Het |
| Mkx |
C |
A |
18: 6,992,820 (GRCm39) |
E155* |
probably null |
Het |
| Mmp11 |
G |
A |
10: 75,763,216 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
T |
C |
19: 41,952,807 (GRCm39) |
K101E |
possibly damaging |
Het |
| Mrpl23 |
C |
A |
7: 142,088,776 (GRCm39) |
R44S |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,448,359 (GRCm39) |
F59S |
possibly damaging |
Het |
| Or7e166 |
G |
A |
9: 19,624,638 (GRCm39) |
V172I |
probably benign |
Het |
| Or8u10 |
A |
G |
2: 85,915,849 (GRCm39) |
S91P |
possibly damaging |
Het |
| Pcdhgc5 |
C |
T |
18: 37,953,248 (GRCm39) |
P174L |
probably damaging |
Het |
| Phf20l1 |
A |
T |
15: 66,501,673 (GRCm39) |
D619V |
probably damaging |
Het |
| Plcz1 |
C |
T |
6: 139,953,433 (GRCm39) |
A395T |
possibly damaging |
Het |
| Polr1f |
T |
A |
12: 33,487,882 (GRCm39) |
C266S |
probably benign |
Het |
| Rbm45 |
A |
G |
2: 76,209,416 (GRCm39) |
D410G |
probably damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,795,896 (GRCm39) |
L675P |
probably damaging |
Het |
| Taf6l |
G |
A |
19: 8,750,074 (GRCm39) |
T208I |
probably damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,571,065 (GRCm39) |
I443T |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,425 (GRCm39) |
L48P |
probably damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,828,941 (GRCm39) |
V111A |
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 |
|
|
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 |
|
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 |
|
|
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'- AGCAGAGCCTGTTTTATATACCTTG -3'
(R):5'- CACAGGTAAGACGACTTTCTCAGG -3'
Sequencing Primer
(F):5'- AGTATCTGTCTTCGCACTC -3'
(R):5'- CAGGCATATCTGTTGTGAGCACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation