Incidental Mutation 'R4727:Ehhadh'
| ID |
358567 |
| 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 |
041602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4727 (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 C
at 21581181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 604
(I604V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023559]
|
| AlphaFold |
Q9DBM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023559
AA Change: I604V
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: I604V
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abcd2 |
T |
C |
15: 91,062,489 (GRCm39) |
N483S |
probably benign |
Het |
| Acoxl |
T |
G |
2: 127,820,658 (GRCm39) |
L70R |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,706,576 (GRCm39) |
F627I |
probably benign |
Het |
| Ash2l |
A |
T |
8: 26,308,623 (GRCm39) |
I552N |
probably damaging |
Het |
| B4galt1 |
A |
G |
4: 40,807,812 (GRCm39) |
S330P |
probably damaging |
Het |
| Bnip3 |
T |
C |
7: 138,500,435 (GRCm39) |
S52G |
probably damaging |
Het |
| Btd |
A |
G |
14: 31,384,278 (GRCm39) |
Q88R |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,566,922 (GRCm39) |
V318A |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,312,214 (GRCm39) |
Q1530* |
probably null |
Het |
| Calm1 |
T |
C |
12: 100,166,485 (GRCm39) |
F23S |
probably benign |
Het |
| Cep290 |
T |
G |
10: 100,399,132 (GRCm39) |
I2218R |
probably benign |
Het |
| Ces2c |
T |
C |
8: 105,574,672 (GRCm39) |
I43T |
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,338,602 (GRCm39) |
L1P |
probably null |
Het |
| Dgki |
C |
A |
6: 37,276,748 (GRCm39) |
|
probably benign |
Het |
| Dhh |
A |
G |
15: 98,796,023 (GRCm39) |
L44P |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,594,274 (GRCm39) |
I3409V |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,246,816 (GRCm39) |
R1664H |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 31,070,721 (GRCm39) |
M4469T |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,951,418 (GRCm39) |
I599V |
probably benign |
Het |
| Faf1 |
G |
A |
4: 109,697,564 (GRCm39) |
D297N |
probably damaging |
Het |
| Gfra1 |
A |
T |
19: 58,252,386 (GRCm39) |
N380K |
probably damaging |
Het |
| Ghitm |
A |
G |
14: 36,855,700 (GRCm39) |
C8R |
probably damaging |
Het |
| Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,757,660 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,266 (GRCm39) |
D260G |
probably damaging |
Het |
| Klf16 |
T |
C |
10: 80,405,020 (GRCm39) |
D164G |
probably damaging |
Het |
| Klhdc7b |
T |
A |
15: 89,271,785 (GRCm39) |
L889Q |
probably damaging |
Het |
| Lcmt2 |
C |
G |
2: 120,969,911 (GRCm39) |
V171L |
probably benign |
Het |
| Lrp11 |
A |
G |
10: 7,466,348 (GRCm39) |
E153G |
probably benign |
Het |
| Lrrc43 |
A |
T |
5: 123,632,366 (GRCm39) |
T170S |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,665,465 (GRCm39) |
Y163C |
probably damaging |
Het |
| Man1a |
A |
T |
10: 53,783,668 (GRCm39) |
|
probably null |
Het |
| Mmp24 |
C |
T |
2: 155,657,819 (GRCm39) |
P570S |
possibly damaging |
Het |
| Ms4a3 |
A |
G |
19: 11,608,742 (GRCm39) |
M170T |
probably damaging |
Het |
| Naip5 |
C |
A |
13: 100,358,378 (GRCm39) |
A953S |
possibly damaging |
Het |
| Nfrkb |
T |
C |
9: 31,314,919 (GRCm39) |
S580P |
probably damaging |
Het |
| Or51q1c |
T |
G |
7: 103,653,097 (GRCm39) |
V205G |
probably benign |
Het |
| Or8b38 |
T |
C |
9: 37,973,389 (GRCm39) |
Y258H |
probably damaging |
Het |
| Padi6 |
T |
G |
4: 140,458,506 (GRCm39) |
D462A |
probably damaging |
Het |
| Pde6a |
A |
G |
18: 61,364,561 (GRCm39) |
R206G |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,759,589 (GRCm39) |
N162D |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,717,721 (GRCm39) |
D1922E |
probably benign |
Het |
| Rangap1 |
G |
A |
15: 81,613,956 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
A |
G |
15: 97,658,481 (GRCm39) |
L175P |
probably damaging |
Het |
| Rps6kb1 |
G |
C |
11: 86,435,484 (GRCm39) |
|
probably null |
Het |
| Satb1 |
T |
C |
17: 52,111,375 (GRCm39) |
Y161C |
probably damaging |
Het |
| Sel1l3 |
C |
A |
5: 53,301,525 (GRCm39) |
|
probably null |
Het |
| Slc17a7 |
C |
T |
7: 44,822,358 (GRCm39) |
S398L |
possibly damaging |
Het |
| Slc22a4 |
T |
A |
11: 53,918,477 (GRCm39) |
E109V |
possibly damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,590,477 (GRCm39) |
A105T |
probably damaging |
Het |
| Slc47a1 |
T |
C |
11: 61,254,277 (GRCm39) |
N145S |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,483,876 (GRCm39) |
T441A |
probably benign |
Het |
| Tefm |
T |
C |
11: 80,031,279 (GRCm39) |
|
probably benign |
Het |
| Ttbk2 |
T |
C |
2: 120,575,851 (GRCm39) |
Y1042C |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,077,894 (GRCm39) |
Q892R |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,500 (GRCm39) |
H683Q |
unknown |
Het |
| Zfp36l2 |
T |
A |
17: 84,495,089 (GRCm39) |
I12F |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,291,170 (GRCm39) |
M2145K |
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 |
|
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'- TGAGGCAGCATAGTACATGG -3'
(R):5'- TTGGAAAGTTCGCAAAGGGC -3'
Sequencing Primer
(F):5'- GCATAGTACATGGGCCCAC -3'
(R):5'- GGCAAGGCCTTACTGGAC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation