Incidental Mutation 'IGL03097:Ehhadh'
| ID |
453236 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03097 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
21580037-21606557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21581520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 491
(I491L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023559]
|
| AlphaFold |
Q9DBM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023559
AA Change: I491L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: I491L
| 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 |
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
90% (46/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy9 |
T |
C |
16: 4,235,930 (GRCm39) |
T257A |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
| Ak5 |
A |
G |
3: 152,366,151 (GRCm39) |
|
probably null |
Het |
| Akap3 |
A |
G |
6: 126,843,379 (GRCm39) |
K666R |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,657 (GRCm39) |
N1158S |
probably benign |
Het |
| Atp23 |
A |
T |
10: 126,723,556 (GRCm39) |
V182E |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,422,462 (GRCm39) |
D898G |
probably benign |
Het |
| Bnip3 |
T |
C |
7: 138,496,208 (GRCm39) |
N140S |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,968,506 (GRCm39) |
Y1059C |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,610,118 (GRCm39) |
I796N |
probably damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,316,678 (GRCm39) |
|
probably benign |
Het |
| Cd3g |
T |
A |
9: 44,882,061 (GRCm39) |
D165V |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,498,676 (GRCm39) |
T4A |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
C |
T |
6: 106,330,673 (GRCm39) |
T97M |
probably benign |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Crim1 |
C |
T |
17: 78,675,227 (GRCm39) |
T812I |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,995,127 (GRCm39) |
T2636K |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 43,993,941 (GRCm39) |
Y200* |
probably null |
Het |
| Dlg4 |
T |
G |
11: 69,933,028 (GRCm39) |
I478S |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,107,105 (GRCm39) |
N505K |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,043,049 (GRCm39) |
W323R |
probably damaging |
Het |
| Ggt6 |
T |
G |
11: 72,327,639 (GRCm39) |
H148Q |
possibly damaging |
Het |
| Gstm3 |
T |
C |
3: 107,876,117 (GRCm39) |
D25G |
probably benign |
Het |
| Gtf2h3 |
G |
A |
5: 124,740,231 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
| Hnf4g |
A |
C |
3: 3,716,674 (GRCm39) |
E281A |
probably damaging |
Het |
| Impg1 |
T |
G |
9: 80,287,234 (GRCm39) |
E404A |
possibly damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,715 (GRCm39) |
V432A |
probably benign |
Het |
| Map3k2 |
T |
G |
18: 32,333,070 (GRCm39) |
D81E |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
| Ms4a1 |
G |
T |
19: 11,230,556 (GRCm39) |
T215N |
probably benign |
Het |
| Pam16 |
T |
C |
16: 4,434,458 (GRCm39) |
I111V |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,166,719 (GRCm39) |
T720A |
probably damaging |
Het |
| Pgap2 |
T |
C |
7: 101,885,434 (GRCm39) |
L100P |
probably damaging |
Het |
| Ppl |
T |
A |
16: 4,914,590 (GRCm39) |
S686C |
probably damaging |
Het |
| Rnls |
A |
G |
19: 33,115,679 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
A |
C |
9: 37,333,824 (GRCm39) |
|
probably null |
Het |
| Rptn |
G |
A |
3: 93,304,680 (GRCm39) |
G671D |
probably damaging |
Het |
| Slc6a21 |
C |
T |
7: 44,937,592 (GRCm39) |
Q628* |
probably null |
Het |
| Smg6 |
T |
G |
11: 74,823,252 (GRCm39) |
I708S |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2017-01-31 |
Incidental Mutation