Incidental Mutation 'R5066:Hadhb'
| ID |
388320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hadhb
|
| Ensembl Gene |
ENSMUSG00000059447 |
| Gene Name |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
| Synonyms |
Mtpb, 4930479F15Rik |
| MMRRC Submission |
042656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.781)
|
| Stock # |
R5066 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30360251-30389591 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 30369094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026841]
[ENSMUST00000114783]
[ENSMUST00000114786]
[ENSMUST00000123980]
[ENSMUST00000197109]
|
| AlphaFold |
Q99JY0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026841
|
| SMART Domains |
Protein: ENSMUSP00000026841
Gene: ENSMUSG00000059447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
52 |
325 |
4.6e-96 |
PFAM |
|
Pfam:ketoacyl-synt
|
86 |
193 |
1.8e-10 |
PFAM |
|
Pfam:Thiolase_C
|
332 |
472 |
1.5e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114783
|
| SMART Domains |
Protein: ENSMUSP00000110431
Gene: ENSMUSG00000059447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
55 |
325 |
1.4e-90 |
PFAM |
|
Pfam:ketoacyl-synt
|
90 |
194 |
1.4e-10 |
PFAM |
|
Pfam:Thiolase_C
|
332 |
472 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114786
|
| SMART Domains |
Protein: ENSMUSP00000110434
Gene: ENSMUSG00000059447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
52 |
325 |
4.6e-96 |
PFAM |
|
Pfam:ketoacyl-synt
|
86 |
193 |
1.8e-10 |
PFAM |
|
Pfam:Thiolase_C
|
332 |
472 |
1.5e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123980
|
| SMART Domains |
Protein: ENSMUSP00000118296
Gene: ENSMUSG00000059447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
52 |
129 |
3.7e-20 |
PFAM |
|
Pfam:Thiolase_N
|
119 |
173 |
3.3e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127364
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197109
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta 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 beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. 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. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for an ENU-induced mutation display reduced postnatal weight gain, multifocal cardiac fibrosis and hepatic steatosis, and develop cardiac arrhythmias that range from a prolonged PR interval to complete atrioventricular dissociation and lead to sudden between 9 and 16 months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
T |
11: 70,507,417 (GRCm39) |
Y154F |
probably benign |
Het |
| Abca5 |
A |
T |
11: 110,200,176 (GRCm39) |
|
probably benign |
Het |
| Agtpbp1 |
T |
A |
13: 59,622,364 (GRCm39) |
D11V |
probably damaging |
Het |
| Aldh1a2 |
G |
A |
9: 71,188,982 (GRCm39) |
A299T |
possibly damaging |
Het |
| Apc |
T |
A |
18: 34,449,158 (GRCm39) |
V1984D |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Atp13a2 |
G |
A |
4: 140,732,449 (GRCm39) |
V905M |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,489,420 (GRCm39) |
G731R |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,836,113 (GRCm39) |
V1131A |
possibly damaging |
Het |
| Bcl2l13 |
T |
A |
6: 120,863,982 (GRCm39) |
V312E |
possibly damaging |
Het |
| Chic2 |
A |
G |
5: 75,187,817 (GRCm39) |
V81A |
possibly damaging |
Het |
| Drg1 |
A |
T |
11: 3,209,353 (GRCm39) |
I122N |
possibly damaging |
Het |
| Efcab3 |
A |
G |
11: 104,611,490 (GRCm39) |
D444G |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,524,990 (GRCm39) |
N612S |
possibly damaging |
Het |
| Heg1 |
G |
T |
16: 33,559,041 (GRCm39) |
R856S |
probably benign |
Het |
| Ice2 |
A |
C |
9: 69,315,573 (GRCm39) |
N143T |
probably benign |
Het |
| Igkv8-21 |
G |
A |
6: 70,292,427 (GRCm39) |
Q4* |
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,403,448 (GRCm39) |
S524P |
probably damaging |
Het |
| Mndal |
C |
A |
1: 173,703,229 (GRCm39) |
A59S |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,513,002 (GRCm39) |
E33G |
possibly damaging |
Het |
| Msantd5l |
A |
G |
11: 51,145,251 (GRCm39) |
F112S |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,617,801 (GRCm39) |
D187E |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,991,868 (GRCm39) |
I519V |
probably benign |
Het |
| Or10p22 |
G |
A |
10: 128,826,660 (GRCm39) |
R293Q |
probably damaging |
Het |
| Or6c204 |
T |
C |
10: 129,022,433 (GRCm39) |
I286V |
possibly damaging |
Het |
| Padi1 |
T |
C |
4: 140,556,748 (GRCm39) |
N153S |
probably damaging |
Het |
| Parp10 |
A |
G |
15: 76,125,146 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
| Slc2a7 |
T |
A |
4: 150,244,573 (GRCm39) |
M347K |
probably damaging |
Het |
| Slc45a2 |
C |
A |
15: 11,012,693 (GRCm39) |
T232K |
probably benign |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,987,538 (GRCm39) |
Y899H |
possibly damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,281,026 (GRCm39) |
I26F |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,541,040 (GRCm39) |
C341R |
probably damaging |
Het |
| Syk |
T |
A |
13: 52,796,018 (GRCm39) |
S538T |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,013,325 (GRCm39) |
T2840A |
probably benign |
Het |
| Thsd4 |
A |
G |
9: 59,883,615 (GRCm39) |
C924R |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,076,504 (GRCm39) |
S175P |
probably benign |
Het |
| Tmbim4 |
C |
T |
10: 120,053,537 (GRCm39) |
T112M |
probably benign |
Het |
| Tmprss11a |
A |
G |
5: 86,567,859 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
A |
4: 63,893,466 (GRCm39) |
D1698Y |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,927,539 (GRCm39) |
Y18H |
probably benign |
Het |
|
| Other mutations in Hadhb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02306:Hadhb
|
APN |
5 |
30,371,747 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL02472:Hadhb
|
APN |
5 |
30,389,061 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0110:Hadhb
|
UTSW |
5 |
30,374,483 (GRCm39) |
splice site |
probably benign |
|
|
R0481:Hadhb
|
UTSW |
5 |
30,373,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0578:Hadhb
|
UTSW |
5 |
30,383,804 (GRCm39) |
missense |
probably benign |
|
|
R1483:Hadhb
|
UTSW |
5 |
30,374,492 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1552:Hadhb
|
UTSW |
5 |
30,381,931 (GRCm39) |
missense |
probably null |
0.66 |
|
R1616:Hadhb
|
UTSW |
5 |
30,371,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Hadhb
|
UTSW |
5 |
30,385,935 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2064:Hadhb
|
UTSW |
5 |
30,378,796 (GRCm39) |
splice site |
probably null |
|
|
R5298:Hadhb
|
UTSW |
5 |
30,382,009 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6216:Hadhb
|
UTSW |
5 |
30,379,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6787:Hadhb
|
UTSW |
5 |
30,360,247 (GRCm39) |
unclassified |
probably benign |
|
|
R8480:Hadhb
|
UTSW |
5 |
30,373,568 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8802:Hadhb
|
UTSW |
5 |
30,378,831 (GRCm39) |
nonsense |
probably null |
|
|
R9481:Hadhb
|
UTSW |
5 |
30,368,711 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAATGGGCTCTCAGATCTTG -3'
(R):5'- TCAAACCCAGGGAGAAGCTATC -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CCAGGGAGAAGCTATCTATTAACATC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation