Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02306:Hadhb'

287584

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hadhb

Ensembl Gene

ENSMUSG00000059447

Gene Name

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

Synonyms

Mtpb, 4930479F15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

IGL02306

Quality Score

Status

Chromosome

Chromosomal Location

30360251-30389591 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30371747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 66 (L66Q)

Ref Sequence

ENSEMBL: ENSMUSP00000118296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026841] [ENSMUST00000114783] [ENSMUST00000114786] [ENSMUST00000123980] [ENSMUST00000197109]

AlphaFold

Q99JY0

Predicted Effect

probably null
Transcript: ENSMUST00000026841
AA Change: L66Q

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026841
Gene: ENSMUSG00000059447
AA Change: L66Q

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 null
Transcript: ENSMUST00000114783
AA Change: L66Q

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110431
Gene: ENSMUSG00000059447
AA Change: L66Q

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 null
Transcript: ENSMUST00000114786
AA Change: L66Q

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110434
Gene: ENSMUSG00000059447
AA Change: L66Q

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 null
Transcript: ENSMUST00000123980
AA Change: L66Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118296
Gene: ENSMUSG00000059447
AA Change: L66Q

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

noncoding transcript
Transcript: ENSMUST00000157488

Predicted Effect

probably benign
Transcript: ENSMUST00000197109

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 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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,952,044 (GRCm39)	Y680C	probably damaging	Het
Abcb11	C	T	2: 69,095,801 (GRCm39)	W846*	probably null	Het
Adam34	G	A	8: 44,103,522 (GRCm39)	R708C	probably benign	Het
Adam6a	T	A	12: 113,509,343 (GRCm39)	L572Q	possibly damaging	Het
Aldoart2	A	G	12: 55,612,489 (GRCm39)	Y138C	probably damaging	Het
Amigo1	T	A	3: 108,095,302 (GRCm39)	F267Y	probably benign	Het
Car7	A	G	8: 105,275,630 (GRCm39)	Y137C	probably damaging	Het
Ccar2	A	T	14: 70,379,471 (GRCm39)	M509K	probably benign	Het
Cd160	A	T	3: 96,716,139 (GRCm39)	I17N	possibly damaging	Het
Cmya5	C	T	13: 93,234,527 (GRCm39)	G187D	probably damaging	Het
Crot	A	T	5: 9,018,701 (GRCm39)	V555E	possibly damaging	Het
Cstf1	C	T	2: 172,214,891 (GRCm39)	T4I	probably benign	Het
Cyp2a12	A	G	7: 26,732,008 (GRCm39)	K250E	probably damaging	Het
Deaf1	T	C	7: 140,904,094 (GRCm39)		probably null	Het
Dse	C	T	10: 34,036,130 (GRCm39)	E249K	probably damaging	Het
E4f1	G	T	17: 24,665,903 (GRCm39)	R88S	probably damaging	Het
Fam83a	A	C	15: 57,858,704 (GRCm39)	D248A	probably damaging	Het
Fhip2b	T	C	14: 70,826,437 (GRCm39)	D217G	probably benign	Het
Kalrn	T	C	16: 34,130,897 (GRCm39)	E440G	probably damaging	Het
Kif3b	A	G	2: 153,162,572 (GRCm39)	Y527C	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Krtap29-1	A	T	11: 99,869,092 (GRCm39)	V263E	probably damaging	Het
Mms19	A	G	19: 41,954,703 (GRCm39)	L72P	probably damaging	Het
Mylpf	T	A	7: 126,812,330 (GRCm39)		probably benign	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Nedd4l	T	G	18: 65,306,025 (GRCm39)	S292R	possibly damaging	Het
Nlrc3	A	C	16: 3,782,688 (GRCm39)	D240E	probably damaging	Het
Obscn	A	T	11: 58,890,497 (GRCm39)	I7345N	unknown	Het
Or4c102	A	T	2: 88,422,950 (GRCm39)	K267N	probably benign	Het
Ostn	A	T	16: 27,165,691 (GRCm39)	S127C	probably damaging	Het
Patl1	A	G	19: 11,920,250 (GRCm39)	K735E	possibly damaging	Het
Pde12	A	G	14: 26,389,533 (GRCm39)	L392P	possibly damaging	Het
Plxdc2	A	G	2: 16,665,585 (GRCm39)	I213V	probably benign	Het
Plxna4	T	A	6: 32,183,059 (GRCm39)	Y948F	probably benign	Het
Prlhr	A	T	19: 60,456,353 (GRCm39)	V71E	probably damaging	Het
Prlr	C	T	15: 10,328,760 (GRCm39)	P412S	probably benign	Het
Prmt9	A	G	8: 78,287,447 (GRCm39)	K196R	probably benign	Het
Rundc3a	T	A	11: 102,291,764 (GRCm39)	L387Q	probably damaging	Het
Ryr3	T	C	2: 112,664,459 (GRCm39)	I1611V	probably damaging	Het
Ryr3	A	G	2: 112,677,744 (GRCm39)		probably null	Het
Scart1	T	C	7: 139,803,269 (GRCm39)	C278R	probably damaging	Het
Sfxn2	T	A	19: 46,578,987 (GRCm39)	M240K	probably damaging	Het
Skor2	T	C	18: 76,950,374 (GRCm39)	S901P	probably benign	Het
Smad4	T	C	18: 73,795,940 (GRCm39)		probably null	Het
Snrnp40	T	G	4: 130,258,893 (GRCm39)	C100W	probably benign	Het
Spink5	T	A	18: 44,097,511 (GRCm39)	D19E	probably damaging	Het
Sult1d1	T	A	5: 87,703,914 (GRCm39)		probably benign	Het
Wdr59	G	A	8: 112,219,365 (GRCm39)	L231F	probably damaging	Het

Other mutations in Hadhb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5066:Hadhb	UTSW	5	30,369,094 (GRCm39)	intron	probably benign
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

Posted On

2015-04-16