Incidental Mutation 'IGL01106:Hadh'
| ID |
50746 |
| 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 # |
IGL01106
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
131027068-131065750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131034619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 226
(Y226N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029610]
|
| AlphaFold |
Q61425 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029610
AA Change: Y226N
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029610
Gene: ENSMUSG00000027984
AA Change: Y226N
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg13 |
T |
C |
2: 91,526,297 (GRCm39) |
D12G |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,221,120 (GRCm39) |
L3163P |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,449,622 (GRCm39) |
|
probably benign |
Het |
| Ddx23 |
C |
T |
15: 98,548,821 (GRCm39) |
R327Q |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,931,853 (GRCm39) |
E91K |
probably benign |
Het |
| Fam13c |
T |
C |
10: 70,284,646 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,193,626 (GRCm39) |
T1398A |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,840,494 (GRCm39) |
T1793A |
probably benign |
Het |
| Gprc5b |
T |
C |
7: 118,583,084 (GRCm39) |
K262E |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,383,720 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
A |
G |
1: 131,187,792 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
T |
A |
16: 32,855,970 (GRCm39) |
I202L |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Kcna3 |
A |
G |
3: 106,945,180 (GRCm39) |
E481G |
possibly damaging |
Het |
| Kdm1a |
A |
G |
4: 136,299,639 (GRCm39) |
|
probably benign |
Het |
| Klhdc8a |
A |
T |
1: 132,232,438 (GRCm39) |
S321C |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,900,666 (GRCm39) |
K255E |
probably benign |
Het |
| Lhfpl4 |
T |
A |
6: 113,170,824 (GRCm39) |
T121S |
probably benign |
Het |
| Lsm11 |
G |
A |
11: 45,824,490 (GRCm39) |
Q346* |
probably null |
Het |
| Mcoln3 |
A |
G |
3: 145,843,019 (GRCm39) |
T368A |
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,350,452 (GRCm38) |
|
noncoding transcript |
Het |
| Nol8 |
A |
G |
13: 49,807,957 (GRCm39) |
I58V |
possibly damaging |
Het |
| Or5al6 |
C |
T |
2: 85,976,560 (GRCm39) |
V173M |
probably benign |
Het |
| Phactr4 |
A |
G |
4: 132,098,116 (GRCm39) |
F384S |
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,562,678 (GRCm39) |
I509L |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,449,671 (GRCm39) |
D1019V |
probably damaging |
Het |
| Sclt1 |
T |
C |
3: 41,629,754 (GRCm39) |
|
probably benign |
Het |
| Sntg2 |
T |
A |
12: 30,307,987 (GRCm39) |
K233* |
probably null |
Het |
| Syt5 |
T |
C |
7: 4,544,156 (GRCm39) |
T295A |
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 |
|
IGL02629:Hadh
|
APN |
3 |
131,029,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02717:Hadh
|
APN |
3 |
131,043,559 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-06-21 |
Incidental Mutation