Incidental Mutation 'R6762:Ehhadh'
ID |
531760 |
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 |
044878-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6762 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
21580037-21606557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 21581209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 594
(F594L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023559
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023559]
|
AlphaFold |
Q9DBM2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023559
AA Change: F594L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000023559 Gene: ENSMUSG00000022853 AA Change: F594L
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (45/45) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
A |
G |
9: 103,976,867 (GRCm39) |
Y27H |
probably benign |
Het |
Angptl3 |
T |
A |
4: 98,925,654 (GRCm39) |
S327T |
possibly damaging |
Het |
Arl6ip4 |
GGAAGAAGAAGAAGAAGAA |
GGAAGAAGAAGAAGAAGAAGAA |
5: 124,255,113 (GRCm39) |
|
probably benign |
Het |
Cyp2s1 |
A |
T |
7: 25,507,495 (GRCm39) |
L318H |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,584,824 (GRCm39) |
L3185P |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,263,902 (GRCm39) |
V2128A |
probably benign |
Het |
En2 |
A |
G |
5: 28,375,351 (GRCm39) |
N298S |
possibly damaging |
Het |
Epha5 |
T |
A |
5: 84,479,585 (GRCm39) |
N140Y |
probably damaging |
Het |
Fam151b |
C |
T |
13: 92,604,558 (GRCm39) |
V144I |
possibly damaging |
Het |
Fanca |
C |
A |
8: 123,998,042 (GRCm39) |
A1215S |
probably benign |
Het |
Fancd2 |
T |
A |
6: 113,562,977 (GRCm39) |
|
probably null |
Het |
Fat2 |
T |
C |
11: 55,144,308 (GRCm39) |
|
probably null |
Het |
Gm4513 |
T |
C |
7: 20,328,118 (GRCm39) |
N31S |
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,279,114 (GRCm39) |
I3066F |
possibly damaging |
Het |
Krt10 |
T |
C |
11: 99,277,883 (GRCm39) |
T355A |
possibly damaging |
Het |
Lims1 |
C |
A |
10: 58,248,367 (GRCm39) |
H275N |
probably damaging |
Het |
Map3k19 |
C |
T |
1: 127,775,001 (GRCm39) |
G112D |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,676,786 (GRCm39) |
N619K |
possibly damaging |
Het |
Mtor |
A |
G |
4: 148,622,938 (GRCm39) |
T1977A |
possibly damaging |
Het |
Nos2 |
T |
G |
11: 78,850,574 (GRCm39) |
L1144R |
possibly damaging |
Het |
Or52ae7 |
G |
C |
7: 103,119,596 (GRCm39) |
V117L |
probably benign |
Het |
Or6c68 |
G |
A |
10: 129,158,125 (GRCm39) |
C211Y |
probably damaging |
Het |
Or8k38 |
A |
T |
2: 86,488,188 (GRCm39) |
F205I |
probably benign |
Het |
Pals2 |
T |
A |
6: 50,157,418 (GRCm39) |
|
probably null |
Het |
Pcdhga9 |
C |
A |
18: 37,870,321 (GRCm39) |
S50Y |
probably damaging |
Het |
Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
Prep |
T |
C |
10: 45,024,219 (GRCm39) |
|
probably null |
Het |
Qtrt1 |
T |
A |
9: 21,323,378 (GRCm39) |
H76Q |
probably damaging |
Het |
Rpa1 |
T |
A |
11: 75,231,171 (GRCm39) |
S73C |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,808,702 (GRCm39) |
V157A |
probably damaging |
Het |
Snapc3 |
T |
C |
4: 83,353,495 (GRCm39) |
L178P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,093,633 (GRCm39) |
F1340L |
probably damaging |
Het |
Srd5a3 |
T |
A |
5: 76,301,398 (GRCm39) |
I85K |
probably benign |
Het |
Taar2 |
C |
T |
10: 23,817,300 (GRCm39) |
T280M |
probably damaging |
Het |
Tgfb3 |
T |
C |
12: 86,116,237 (GRCm39) |
D177G |
probably benign |
Het |
Tpt1 |
A |
G |
14: 76,083,821 (GRCm39) |
D94G |
probably benign |
Het |
Trpm4 |
A |
G |
7: 44,954,240 (GRCm39) |
|
probably benign |
Het |
Trpv4 |
C |
T |
5: 114,763,171 (GRCm39) |
R746H |
probably benign |
Het |
Txndc2 |
T |
C |
17: 65,945,967 (GRCm39) |
D70G |
probably damaging |
Het |
Ugcg |
T |
A |
4: 59,219,530 (GRCm39) |
I289N |
possibly damaging |
Het |
Vmn2r2 |
C |
G |
3: 64,041,870 (GRCm39) |
D282H |
probably damaging |
Het |
Vmn2r50 |
A |
T |
7: 9,787,010 (GRCm39) |
N32K |
probably benign |
Het |
Wdpcp |
C |
T |
11: 21,671,244 (GRCm39) |
T495I |
probably benign |
Het |
Zfp961 |
T |
A |
8: 72,719,958 (GRCm39) |
C51S |
possibly damaging |
Het |
Zxdc |
C |
T |
6: 90,359,165 (GRCm39) |
A599V |
probably benign |
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 |
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'- TGAGGCAGCATAGTACATGG -3'
(R):5'- TTGGAAAGTTCGCAAAGGGC -3'
Sequencing Primer
(F):5'- GCATAGTACATGGGCCCAC -3'
(R):5'- GGCAAGGCCTTACTGGAC -3'
|
Posted On |
2018-08-29 |