Incidental Mutation 'R9774:Ehhadh'
| ID |
733605 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
21580037-21606557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21581976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 339
(T339A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023559]
|
| AlphaFold |
Q9DBM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023559
AA Change: T339A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: T339A
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
A |
C |
7: 30,399,261 (GRCm39) |
Q18H |
possibly damaging |
Het |
| Adam23 |
C |
T |
1: 63,585,583 (GRCm39) |
T390I |
probably benign |
Het |
| Adh7 |
T |
A |
3: 137,929,847 (GRCm39) |
C174* |
probably null |
Het |
| Brip1 |
A |
G |
11: 86,077,838 (GRCm39) |
S197P |
possibly damaging |
Het |
| Ccdc146 |
G |
T |
5: 21,506,247 (GRCm39) |
D731E |
probably benign |
Het |
| Cfi |
T |
C |
3: 129,668,645 (GRCm39) |
V557A |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,484,665 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,299,093 (GRCm39) |
I424V |
unknown |
Het |
| Cubn |
C |
T |
2: 13,433,530 (GRCm39) |
V1127I |
probably benign |
Het |
| Ezh2 |
T |
A |
6: 47,519,315 (GRCm39) |
I506L |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,991,057 (GRCm39) |
M1V |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,372,032 (GRCm39) |
V567E |
probably null |
Het |
| Hrh1 |
A |
T |
6: 114,457,241 (GRCm39) |
E174V |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,272,040 (GRCm39) |
S585G |
possibly damaging |
Het |
| Kcnq4 |
C |
A |
4: 120,573,076 (GRCm39) |
A242S |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,804,014 (GRCm39) |
N842S |
probably benign |
Het |
| Mbd1 |
A |
G |
18: 74,408,274 (GRCm39) |
Q309R |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,943,613 (GRCm39) |
I383T |
probably benign |
Het |
| Mrto4 |
T |
C |
4: 139,075,287 (GRCm39) |
D172G |
probably benign |
Het |
| Muc2 |
T |
G |
7: 141,285,811 (GRCm39) |
S19A |
probably benign |
Het |
| Ndufb2 |
T |
C |
6: 39,575,301 (GRCm39) |
|
probably null |
Het |
| Npas3 |
A |
T |
12: 53,994,108 (GRCm39) |
T246S |
probably damaging |
Het |
| Or8u8 |
C |
T |
2: 86,012,015 (GRCm39) |
V147M |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,675,920 (GRCm39) |
N942I |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,281,751 (GRCm39) |
V177A |
probably benign |
Het |
| Rab5b |
A |
G |
10: 128,522,658 (GRCm39) |
V41A |
probably benign |
Het |
| Rnf111 |
T |
C |
9: 70,334,303 (GRCm39) |
D980G |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,114,185 (GRCm39) |
T515A |
probably benign |
Het |
| Rsf1 |
GCGGC |
GCGGCGGCGTCGGC |
7: 97,229,138 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
T |
A |
1: 106,923,579 (GRCm39) |
F95I |
probably benign |
Het |
| Sgsm3 |
C |
T |
15: 80,890,673 (GRCm39) |
R76C |
possibly damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,603,134 (GRCm39) |
V494A |
probably benign |
Het |
| Spag9 |
A |
G |
11: 94,005,062 (GRCm39) |
E1182G |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,944,196 (GRCm39) |
S530P |
probably benign |
Het |
| Spatc1l |
A |
G |
10: 76,405,168 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
G |
2: 121,938,965 (GRCm39) |
S330P |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,445,010 (GRCm39) |
M306K |
probably damaging |
Het |
| Tcea2 |
C |
T |
2: 181,328,664 (GRCm39) |
T239I |
probably damaging |
Het |
| Tlcd2 |
A |
G |
11: 75,359,131 (GRCm39) |
D34G |
probably damaging |
Het |
| Tmem132a |
C |
T |
19: 10,842,904 (GRCm39) |
W190* |
probably null |
Het |
| Top3a |
C |
A |
11: 60,638,998 (GRCm39) |
V551L |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,898,041 (GRCm39) |
E1225K |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,645,660 (GRCm39) |
H350R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tyw3 |
T |
C |
3: 154,302,584 (GRCm39) |
D27G |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,153,875 (GRCm39) |
A1012V |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,369,126 (GRCm39) |
T149I |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,791,873 (GRCm39) |
S380T |
possibly 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 |
|
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 |
|
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'- TGGAAGAAGCAATGTCATCCAC -3'
(R):5'- GTTTGGCTCCCAGCACAAAC -3'
Sequencing Primer
(F):5'- ATGTCATCCACATCCAGTGCTGAG -3'
(R):5'- GCACAAACAAATCACGTTTTCTTTCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation