Incidental Mutation 'IGL00435:Hadha'
| ID |
6466 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hadha
|
| Ensembl Gene |
ENSMUSG00000025745 |
| Gene Name |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
| Synonyms |
Mtpa |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00435
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
30324421-30359978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30327171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 556
(S556P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058045]
[ENSMUST00000156859]
|
| AlphaFold |
Q8BMS1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000026843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058045
|
| SMART Domains |
Protein: ENSMUSP00000054208
Gene: ENSMUSG00000044576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CABIT
|
29 |
337 |
1.2e-77 |
PFAM |
|
low complexity region
|
379 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
696 |
N/A |
INTRINSIC |
|
PDB:2DKZ|A
|
794 |
878 |
3e-30 |
PDB |
|
Blast:SAM
|
812 |
879 |
6e-35 |
BLAST |
|
SCOP:d1kw4a_
|
816 |
877 |
1e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132486
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156859
AA Change: S556P
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120976
Gene: ENSMUSG00000025745
AA Change: S556P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
44 |
297 |
3.6e-42 |
PFAM |
|
Pfam:ECH_2
|
49 |
225 |
8.6e-27 |
PFAM |
|
Pfam:3HCDH_N
|
363 |
542 |
1e-54 |
PFAM |
|
Pfam:3HCDH
|
544 |
639 |
7.7e-29 |
PFAM |
|
low complexity region
|
706 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196946
|
| 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 encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within 36 hours with hypoglycemia and liver steatosis. Liver steatosis and insulin resistance develop in heterozygotes with age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
A |
T |
17: 68,152,796 (GRCm39) |
D657E |
probably damaging |
Het |
| Cd200l1 |
A |
T |
16: 45,264,483 (GRCm39) |
L25Q |
probably damaging |
Het |
| Cd68 |
T |
C |
11: 69,556,676 (GRCm39) |
T44A |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,733,678 (GRCm39) |
T555M |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,701,628 (GRCm39) |
Q169R |
probably damaging |
Het |
| Cs |
T |
C |
10: 128,195,912 (GRCm39) |
F374L |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,393,226 (GRCm39) |
E181G |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,625 (GRCm39) |
T133A |
probably benign |
Het |
| Esr2 |
G |
A |
12: 76,180,653 (GRCm39) |
R423W |
probably damaging |
Het |
| Eya4 |
T |
C |
10: 23,034,995 (GRCm39) |
Y120C |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,206,202 (GRCm39) |
M582T |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,863,953 (GRCm39) |
D2575V |
probably damaging |
Het |
| Ghsr |
A |
G |
3: 27,426,532 (GRCm39) |
E196G |
possibly damaging |
Het |
| Gm10024 |
G |
A |
10: 77,547,295 (GRCm39) |
|
probably benign |
Het |
| Gpr65 |
A |
G |
12: 98,241,815 (GRCm39) |
E156G |
probably damaging |
Het |
| Gtf3c3 |
T |
C |
1: 54,466,694 (GRCm39) |
Y249C |
possibly damaging |
Het |
| H2-T23 |
G |
A |
17: 36,342,673 (GRCm39) |
A155V |
probably damaging |
Het |
| Hdac7 |
T |
A |
15: 97,707,376 (GRCm39) |
K187N |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,452,255 (GRCm39) |
I332V |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,407,600 (GRCm39) |
D1198G |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,129,410 (GRCm39) |
L159P |
probably damaging |
Het |
| Me2 |
T |
C |
18: 73,903,713 (GRCm39) |
E585G |
probably benign |
Het |
| Nfu1 |
A |
T |
6: 86,992,577 (GRCm39) |
T64S |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,166,728 (GRCm39) |
D632G |
probably benign |
Het |
| Pcna |
T |
C |
2: 132,093,852 (GRCm39) |
D97G |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,265,612 (GRCm39) |
|
probably benign |
Het |
| Phactr1 |
C |
A |
13: 43,110,122 (GRCm39) |
R2S |
probably damaging |
Het |
| Psmd11 |
T |
A |
11: 80,361,210 (GRCm39) |
I347N |
possibly damaging |
Het |
| Rad21l |
T |
C |
2: 151,495,436 (GRCm39) |
T416A |
probably benign |
Het |
| Ruvbl2 |
A |
T |
7: 45,074,596 (GRCm39) |
S181T |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,253,049 (GRCm39) |
T109A |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,490,494 (GRCm39) |
Y3785F |
probably damaging |
Het |
| Sec16a |
T |
C |
2: 26,320,113 (GRCm39) |
T1442A |
probably benign |
Het |
| Slc6a14 |
T |
A |
X: 21,600,363 (GRCm39) |
|
probably benign |
Het |
| Slco2b1 |
G |
A |
7: 99,309,259 (GRCm39) |
Q691* |
probably null |
Het |
| Tent5c |
A |
G |
3: 100,380,672 (GRCm39) |
V28A |
probably damaging |
Het |
| Them5 |
A |
G |
3: 94,253,496 (GRCm39) |
T169A |
possibly damaging |
Het |
| Trav13-2 |
T |
C |
14: 53,872,688 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tst |
A |
T |
15: 78,289,661 (GRCm39) |
S125T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,630,868 (GRCm39) |
T14179A |
probably benign |
Het |
| Vps37b |
A |
G |
5: 124,148,850 (GRCm39) |
Y62H |
probably damaging |
Het |
|
| Other mutations in Hadha |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Hadha
|
APN |
5 |
30,325,145 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01413:Hadha
|
APN |
5 |
30,346,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01715:Hadha
|
APN |
5 |
30,325,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Hadha
|
APN |
5 |
30,347,843 (GRCm39) |
splice site |
probably benign |
|
|
IGL02316:Hadha
|
APN |
5 |
30,331,565 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02366:Hadha
|
APN |
5 |
30,340,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02453:Hadha
|
APN |
5 |
30,349,304 (GRCm39) |
splice site |
probably benign |
|
|
IGL02611:Hadha
|
APN |
5 |
30,333,941 (GRCm39) |
splice site |
probably benign |
|
|
IGL03127:Hadha
|
APN |
5 |
30,339,184 (GRCm39) |
splice site |
probably benign |
|
|
IGL03181:Hadha
|
APN |
5 |
30,326,524 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1381:Hadha
|
UTSW |
5 |
30,333,834 (GRCm39) |
missense |
probably benign |
|
|
R1501:Hadha
|
UTSW |
5 |
30,333,804 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2060:Hadha
|
UTSW |
5 |
30,333,834 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3764:Hadha
|
UTSW |
5 |
30,349,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3778:Hadha
|
UTSW |
5 |
30,325,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5025:Hadha
|
UTSW |
5 |
30,359,959 (GRCm39) |
unclassified |
probably benign |
|
|
R5523:Hadha
|
UTSW |
5 |
30,350,252 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5870:Hadha
|
UTSW |
5 |
30,349,284 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6054:Hadha
|
UTSW |
5 |
30,328,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6144:Hadha
|
UTSW |
5 |
30,345,994 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6245:Hadha
|
UTSW |
5 |
30,325,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6495:Hadha
|
UTSW |
5 |
30,325,048 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6862:Hadha
|
UTSW |
5 |
30,352,977 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7038:Hadha
|
UTSW |
5 |
30,324,998 (GRCm39) |
splice site |
probably null |
|
|
R7200:Hadha
|
UTSW |
5 |
30,350,315 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7215:Hadha
|
UTSW |
5 |
30,324,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7267:Hadha
|
UTSW |
5 |
30,327,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Hadha
|
UTSW |
5 |
30,331,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8172:Hadha
|
UTSW |
5 |
30,350,285 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8429:Hadha
|
UTSW |
5 |
30,349,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8494:Hadha
|
UTSW |
5 |
30,347,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Hadha
|
UTSW |
5 |
30,331,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9180:Hadha
|
UTSW |
5 |
30,340,038 (GRCm39) |
missense |
probably benign |
|
|
R9618:Hadha
|
UTSW |
5 |
30,339,165 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2012-04-20 |
Incidental Mutation