Incidental Mutation 'R6960:Ehhadh'
| ID |
541728 |
| 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 |
045070-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6960 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21580037-21606557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21581028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 655
(V655L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023559]
|
| AlphaFold |
Q9DBM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023559
AA Change: V655L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: V655L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
98% (50/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,072,924 (GRCm39) |
D1170G |
probably benign |
Het |
| Ak7 |
A |
T |
12: 105,676,503 (GRCm39) |
T68S |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,111,901 (GRCm39) |
N26K |
probably damaging |
Het |
| B3galt1 |
A |
T |
2: 67,949,033 (GRCm39) |
E249D |
probably damaging |
Het |
| Catsper4 |
T |
A |
4: 133,954,648 (GRCm39) |
M1L |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,773,506 (GRCm39) |
V523A |
possibly damaging |
Het |
| Ccn4 |
C |
T |
15: 66,791,047 (GRCm39) |
T283M |
probably benign |
Het |
| Cyp11a1 |
T |
C |
9: 57,925,659 (GRCm39) |
F98S |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,674,446 (GRCm39) |
S479G |
probably damaging |
Het |
| Dclre1a |
T |
G |
19: 56,531,141 (GRCm39) |
Y735S |
probably damaging |
Het |
| Dio2 |
C |
T |
12: 90,696,671 (GRCm39) |
G106R |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,815,273 (GRCm39) |
|
probably benign |
Het |
| Ercc2 |
G |
A |
7: 19,127,615 (GRCm39) |
R379Q |
probably damaging |
Het |
| Fabp4 |
A |
G |
3: 10,273,537 (GRCm39) |
V12A |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,223,980 (GRCm39) |
I590V |
probably benign |
Het |
| Grm8 |
C |
A |
6: 27,981,281 (GRCm39) |
V210L |
probably damaging |
Het |
| Jakmip3 |
A |
G |
7: 138,625,065 (GRCm39) |
D359G |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,136,749 (GRCm39) |
Y1493N |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,808,663 (GRCm39) |
N111S |
probably benign |
Het |
| Lyz2 |
G |
C |
10: 117,114,607 (GRCm39) |
I107M |
possibly damaging |
Het |
| Mgat5 |
A |
T |
1: 127,248,371 (GRCm39) |
D91V |
possibly damaging |
Het |
| Mical3 |
T |
A |
6: 120,935,504 (GRCm39) |
D1674V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Naa16 |
A |
G |
14: 79,596,911 (GRCm39) |
Y358H |
possibly damaging |
Het |
| Nktr |
T |
A |
9: 121,571,758 (GRCm39) |
H226Q |
probably damaging |
Het |
| Ocln |
T |
G |
13: 100,635,380 (GRCm39) |
K503T |
possibly damaging |
Het |
| Olfm4 |
T |
C |
14: 80,258,754 (GRCm39) |
L301S |
probably damaging |
Het |
| Or4f4b |
G |
A |
2: 111,314,071 (GRCm39) |
V127I |
possibly damaging |
Het |
| Or6c74 |
T |
C |
10: 129,869,972 (GRCm39) |
L159P |
probably benign |
Het |
| Paqr4 |
G |
A |
17: 23,956,697 (GRCm39) |
A222V |
probably benign |
Het |
| Pcdhb13 |
A |
G |
18: 37,576,509 (GRCm39) |
T296A |
probably benign |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,474,707 (GRCm39) |
V309A |
probably damaging |
Het |
| Ptger4 |
T |
C |
15: 5,264,196 (GRCm39) |
R462G |
probably benign |
Het |
| Ptprc |
C |
T |
1: 138,006,183 (GRCm39) |
|
probably null |
Het |
| Rabggta |
A |
C |
14: 55,959,299 (GRCm39) |
|
probably null |
Het |
| Rnf25 |
A |
G |
1: 74,634,403 (GRCm39) |
S207P |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Rtf1 |
A |
G |
2: 119,541,559 (GRCm39) |
Q264R |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,816,129 (GRCm39) |
V619A |
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,855,181 (GRCm39) |
N285S |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,745,320 (GRCm39) |
M16V |
probably damaging |
Het |
| Slc22a23 |
A |
G |
13: 34,528,140 (GRCm39) |
|
probably null |
Het |
| Slc23a2 |
T |
C |
2: 131,933,173 (GRCm39) |
D95G |
probably damaging |
Het |
| Smc3 |
T |
C |
19: 53,617,802 (GRCm39) |
Y600H |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,155,778 (GRCm39) |
T1320M |
possibly damaging |
Het |
| Tigd4 |
A |
T |
3: 84,501,423 (GRCm39) |
K113N |
probably damaging |
Het |
| Tjp1 |
A |
T |
7: 64,952,763 (GRCm39) |
F1444I |
possibly damaging |
Het |
| Tstd3 |
A |
T |
4: 21,767,118 (GRCm39) |
M1K |
probably null |
Het |
| Zbtb46 |
T |
C |
2: 181,065,217 (GRCm39) |
D311G |
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 |
|
R4073:Ehhadh
|
UTSW |
16 |
21,585,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- AATCACAGTTTGCTGCTATGGG -3'
(R):5'- AAACCTGATCCCTGGCTTTCTG -3'
Sequencing Primer
(F):5'- TGCTATGGGGTCCTGCCAAG -3'
(R):5'- GTTTCTGTCACAGTATAGAGAAACCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation