Incidental Mutation 'IGL02717:Hadh'
| ID |
304820 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hadh
|
| Ensembl Gene |
ENSMUSG00000027984 |
| Gene Name |
hydroxyacyl-Coenzyme A dehydrogenase |
| Synonyms |
Schad, Hadhsc |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL02717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
131027068-131065750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131043559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 52
(T52A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029610]
|
| AlphaFold |
Q61425 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029610
AA Change: T52A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029610
Gene: ENSMUSG00000027984
AA Change: T52A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
4 |
87 |
1.2e-7 |
PFAM |
|
Pfam:3HCDH_N
|
29 |
214 |
1.4e-66 |
PFAM |
|
Pfam:3HCDH
|
216 |
313 |
7e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152427
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased susceptibility to diet-induced obesity associated with impaired fatty acid oxidation, impaired fat tolerance, decreased ketone bodies, and increased glucose-stimulated insulin secretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
G |
A |
14: 54,499,079 (GRCm39) |
|
probably benign |
Het |
| Adgra1 |
A |
T |
7: 139,456,094 (GRCm39) |
N574I |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,749 (GRCm39) |
H418L |
possibly damaging |
Het |
| B4gat1 |
C |
A |
19: 5,088,997 (GRCm39) |
|
probably benign |
Het |
| Cdh18 |
A |
T |
15: 23,410,801 (GRCm39) |
R429* |
probably null |
Het |
| Chd1l |
T |
C |
3: 97,491,223 (GRCm39) |
N423S |
probably damaging |
Het |
| Eef1a2 |
A |
C |
2: 180,794,694 (GRCm39) |
D168E |
probably benign |
Het |
| Eif4g2 |
A |
G |
7: 110,677,320 (GRCm39) |
I205T |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,845,763 (GRCm39) |
I409V |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,781,370 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,279,203 (GRCm39) |
L37* |
probably null |
Het |
| Hoxc4 |
A |
G |
15: 102,943,273 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ifna16 |
T |
C |
4: 88,594,777 (GRCm39) |
D106G |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,005,666 (GRCm39) |
T498K |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,282,869 (GRCm39) |
T1031M |
probably damaging |
Het |
| Or11j4 |
G |
T |
14: 50,631,104 (GRCm39) |
R297L |
probably damaging |
Het |
| Or5g23 |
A |
T |
2: 85,439,116 (GRCm39) |
I46N |
probably damaging |
Het |
| Pilrb1 |
G |
A |
5: 137,856,213 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,843,102 (GRCm39) |
V212E |
probably damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,123,315 (GRCm39) |
T4A |
probably benign |
Het |
| Saxo5 |
C |
T |
8: 3,536,970 (GRCm39) |
R439C |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,358,076 (GRCm39) |
T722S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,392,439 (GRCm39) |
V332I |
possibly damaging |
Het |
| Taar7b |
T |
C |
10: 23,876,258 (GRCm39) |
I141T |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,833,601 (GRCm39) |
Y104C |
probably damaging |
Het |
|
| Other mutations in Hadh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Hadh
|
APN |
3 |
131,043,465 (GRCm39) |
missense |
probably benign |
|
|
IGL01062:Hadh
|
APN |
3 |
131,034,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01106:Hadh
|
APN |
3 |
131,034,619 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02629:Hadh
|
APN |
3 |
131,029,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03180:Hadh
|
APN |
3 |
131,065,533 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03240:Hadh
|
APN |
3 |
131,042,192 (GRCm39) |
missense |
probably benign |
|
|
R0081:Hadh
|
UTSW |
3 |
131,029,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Hadh
|
UTSW |
3 |
131,038,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2000:Hadh
|
UTSW |
3 |
131,038,888 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4989:Hadh
|
UTSW |
3 |
131,029,197 (GRCm39) |
nonsense |
probably null |
|
|
R6851:Hadh
|
UTSW |
3 |
131,065,620 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8787:Hadh
|
UTSW |
3 |
131,027,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8906:Hadh
|
UTSW |
3 |
131,038,891 (GRCm39) |
missense |
probably benign |
|
|
R9245:Hadh
|
UTSW |
3 |
131,034,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation