Incidental Mutation 'R4073:Ehhadh'
| ID |
316420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehhadh
|
| Ensembl Gene |
ENSMUSG00000022853 |
| Gene Name |
enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase |
| Synonyms |
L-PBE, MFP1, L-bifunctional enzyme, MFP, 1300002P22Rik, HD |
| MMRRC Submission |
041621-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4073 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21580037-21606557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21585257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 208
(D208G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023559]
|
| AlphaFold |
Q9DBM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023559
AA Change: D208G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: D208G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
6 |
203 |
2.4e-41 |
PFAM |
|
Pfam:ECH_2
|
11 |
254 |
3.2e-26 |
PFAM |
|
Pfam:3HCDH_N
|
297 |
471 |
1e-55 |
PFAM |
|
Pfam:3HCDH
|
473 |
577 |
2.7e-29 |
PFAM |
|
Pfam:3HCDH
|
614 |
710 |
5.3e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.0938 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruption of this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
C |
T |
17: 54,031,494 (GRCm39) |
|
noncoding transcript |
Het |
| Alox12 |
T |
C |
11: 70,138,136 (GRCm39) |
N400D |
probably damaging |
Het |
| Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
| Cbs |
C |
T |
17: 31,851,979 (GRCm39) |
C8Y |
possibly damaging |
Het |
| Ccdc103 |
C |
T |
11: 102,774,925 (GRCm39) |
R175W |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,431,578 (GRCm39) |
F171L |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
| Cytl1 |
A |
G |
5: 37,892,940 (GRCm39) |
I17V |
unknown |
Het |
| Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,896,296 (GRCm39) |
S768R |
probably benign |
Het |
| Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Erbin |
T |
C |
13: 103,996,619 (GRCm39) |
E211G |
probably damaging |
Het |
| Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,180,025 (GRCm39) |
R91G |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
| Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
| Il23r |
A |
G |
6: 67,463,106 (GRCm39) |
I129T |
probably damaging |
Het |
| Jph4 |
T |
C |
14: 55,352,497 (GRCm39) |
S79G |
probably benign |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
| Lrrc71 |
G |
A |
3: 87,652,569 (GRCm39) |
T185I |
probably benign |
Het |
| Mroh1 |
A |
G |
15: 76,292,185 (GRCm39) |
D219G |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,633,832 (GRCm39) |
S2342T |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,798,958 (GRCm39) |
S10G |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Nrm |
T |
A |
17: 36,172,424 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,395,541 (GRCm39) |
H1047Q |
probably benign |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,888 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,500 (GRCm39) |
V277A |
possibly damaging |
Het |
| Or4x13 |
T |
C |
2: 90,231,337 (GRCm39) |
F111L |
probably benign |
Het |
| Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
| Or6aa1 |
T |
A |
7: 86,044,155 (GRCm39) |
I184F |
probably damaging |
Het |
| Or8b38 |
T |
C |
9: 37,973,165 (GRCm39) |
L183P |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,114,424 (GRCm39) |
Y112C |
probably damaging |
Het |
| Pde11a |
C |
T |
2: 76,168,242 (GRCm39) |
R237H |
probably damaging |
Het |
| Phactr1 |
ACTT |
A |
13: 43,213,245 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,127,788 (GRCm39) |
R116C |
probably damaging |
Het |
| Rab39b |
T |
C |
X: 74,618,658 (GRCm39) |
|
probably benign |
Het |
| Rpp25 |
T |
C |
9: 57,411,592 (GRCm39) |
S25P |
probably benign |
Het |
| Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
| Sbk3 |
G |
T |
7: 4,973,501 (GRCm39) |
A41D |
probably damaging |
Het |
| Slc24a3 |
T |
A |
2: 145,455,636 (GRCm39) |
|
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,707,104 (GRCm39) |
I565V |
probably benign |
Het |
| Slc35a3 |
T |
C |
3: 116,468,887 (GRCm39) |
T275A |
probably benign |
Het |
| Spink12 |
A |
G |
18: 44,237,731 (GRCm39) |
N3S |
possibly damaging |
Het |
| Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
| Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
| Taf2 |
A |
G |
15: 54,915,633 (GRCm39) |
L431P |
probably damaging |
Het |
| Tas2r131 |
A |
T |
6: 132,934,802 (GRCm39) |
Y2* |
probably null |
Het |
| Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
| Trpv1 |
T |
C |
11: 73,141,606 (GRCm39) |
V175A |
probably damaging |
Het |
| Usp21 |
T |
C |
1: 171,109,746 (GRCm39) |
|
probably benign |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,572 (GRCm39) |
V239A |
possibly damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,464,384 (GRCm39) |
C1514F |
probably damaging |
Het |
|
| Other mutations in Ehhadh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00843:Ehhadh
|
APN |
16 |
21,581,379 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02351:Ehhadh
|
APN |
16 |
21,581,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02358:Ehhadh
|
APN |
16 |
21,581,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02946:Ehhadh
|
APN |
16 |
21,581,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Ehhadh
|
APN |
16 |
21,581,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03274:Ehhadh
|
APN |
16 |
21,582,090 (GRCm39) |
splice site |
probably benign |
|
|
IGL03097:Ehhadh
|
UTSW |
16 |
21,581,520 (GRCm39) |
missense |
probably benign |
|
|
R0201:Ehhadh
|
UTSW |
16 |
21,592,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0846:Ehhadh
|
UTSW |
16 |
21,592,247 (GRCm39) |
nonsense |
probably null |
|
|
R1194:Ehhadh
|
UTSW |
16 |
21,580,841 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1601:Ehhadh
|
UTSW |
16 |
21,585,158 (GRCm39) |
missense |
probably benign |
|
|
R1739:Ehhadh
|
UTSW |
16 |
21,581,003 (GRCm39) |
missense |
probably benign |
|
|
R1829:Ehhadh
|
UTSW |
16 |
21,580,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4120:Ehhadh
|
UTSW |
16 |
21,581,934 (GRCm39) |
missense |
probably benign |
|
|
R4239:Ehhadh
|
UTSW |
16 |
21,581,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Ehhadh
|
UTSW |
16 |
21,581,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Ehhadh
|
UTSW |
16 |
21,581,181 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4838:Ehhadh
|
UTSW |
16 |
21,581,952 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5157:Ehhadh
|
UTSW |
16 |
21,585,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5284:Ehhadh
|
UTSW |
16 |
21,582,094 (GRCm39) |
splice site |
probably null |
|
|
R5307:Ehhadh
|
UTSW |
16 |
21,581,442 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5346:Ehhadh
|
UTSW |
16 |
21,581,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Ehhadh
|
UTSW |
16 |
21,585,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6762:Ehhadh
|
UTSW |
16 |
21,581,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6960:Ehhadh
|
UTSW |
16 |
21,581,028 (GRCm39) |
missense |
probably benign |
|
|
R7153:Ehhadh
|
UTSW |
16 |
21,585,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7714:Ehhadh
|
UTSW |
16 |
21,585,140 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8022:Ehhadh
|
UTSW |
16 |
21,596,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8054:Ehhadh
|
UTSW |
16 |
21,592,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8221:Ehhadh
|
UTSW |
16 |
21,581,373 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8263:Ehhadh
|
UTSW |
16 |
21,592,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Ehhadh
|
UTSW |
16 |
21,585,053 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8549:Ehhadh
|
UTSW |
16 |
21,585,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8873:Ehhadh
|
UTSW |
16 |
21,581,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Ehhadh
|
UTSW |
16 |
21,592,281 (GRCm39) |
missense |
probably benign |
|
|
R9747:Ehhadh
|
UTSW |
16 |
21,585,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9774:Ehhadh
|
UTSW |
16 |
21,581,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0018:Ehhadh
|
UTSW |
16 |
21,581,198 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1177:Ehhadh
|
UTSW |
16 |
21,581,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCAAGATGCTCCTGAGGG -3'
(R):5'- CGGTCTGAAGTTACTAAGATTACAG -3'
Sequencing Primer
(F):5'- GGAGTTGACCACTTATTTGCAGAC -3'
(R):5'- TTACAGACTTTGGATATCGTGTTTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation