Mutagenetix > Incidental Mutation

Incidental Mutation 'R8802:Hadhb'

671549

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

068639-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R8802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30360251-30389591 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 30378831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 157 (Q157*)

Ref Sequence

ENSEMBL: ENSMUSP00000026841 (fasta)

Gene Model

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

AlphaFold

Q99JY0

Predicted Effect

probably null
Transcript: ENSMUST00000026841
AA Change: Q157*

SMART Domains

Protein: ENSMUSP00000026841
Gene: ENSMUSG00000059447
AA Change: Q157*

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: Q157*

SMART Domains

Protein: ENSMUSP00000110431
Gene: ENSMUSG00000059447
AA Change: Q157*

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: Q157*

SMART Domains

Protein: ENSMUSP00000110434
Gene: ENSMUSG00000059447
AA Change: Q157*

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

probably benign
Transcript: ENSMUST00000197109

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,249,415 (GRCm39)	T83A	possibly damaging	Het
Abcc6	A	G	7: 45,658,283 (GRCm39)	L451P	probably damaging	Het
Ak5	T	C	3: 152,321,631 (GRCm39)	E252G	probably damaging	Het
Atg4a-ps	T	A	3: 103,552,686 (GRCm39)	K218N	probably damaging	Het
Bglap2	T	A	3: 88,285,568 (GRCm39)	M35L	probably benign	Het
Bicral	A	G	17: 47,135,626 (GRCm39)	M528T	probably benign	Het
Cdh23	A	G	10: 60,244,877 (GRCm39)	V1008A	probably benign	Het
Chil6	A	T	3: 106,312,208 (GRCm39)	L31Q	probably damaging	Het
Ctnnd2	T	C	15: 30,967,022 (GRCm39)	V991A	probably damaging	Het
Dcc	T	C	18: 71,959,125 (GRCm39)	N216D	probably damaging	Het
Dcdc2c	T	A	12: 28,576,720 (GRCm39)	D106V	probably benign	Het
Dchs2	T	C	3: 83,253,544 (GRCm39)	I2318T	probably benign	Het
Fat2	A	G	11: 55,173,750 (GRCm39)	F2321S	possibly damaging	Het
Fbxw7	T	C	3: 84,859,693 (GRCm39)	V5A	unknown	Het
Fn3krp	T	C	11: 121,315,813 (GRCm39)	V68A	probably damaging	Het
Gcn1	T	C	5: 115,747,942 (GRCm39)	L1783P	probably damaging	Het
Gdf6	C	T	4: 9,844,769 (GRCm39)	H98Y	probably damaging	Het
Gm13271	C	A	4: 88,673,247 (GRCm39)	P48Q	probably damaging	Het
Gm4871	A	T	5: 144,966,876 (GRCm39)	N202K	probably benign	Het
Gucy1a2	G	A	9: 3,635,050 (GRCm39)	V365I	probably benign	Het
Hivep2	C	T	10: 14,015,166 (GRCm39)	R1778C	probably damaging	Het
Hmcn2	T	A	2: 31,301,288 (GRCm39)	V2845E	probably damaging	Het
Hps3	T	A	3: 20,074,070 (GRCm39)	I431L	probably damaging	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Igkv12-38	A	T	6: 69,920,390 (GRCm39)	C43S	probably damaging	Het
Jph2	T	A	2: 163,239,184 (GRCm39)	H88L	probably damaging	Het
Kmt2b	G	A	7: 30,283,496 (GRCm39)	R955W	probably damaging	Het
Lrrc4c	A	G	2: 97,460,603 (GRCm39)	T410A	possibly damaging	Het
Ltf	C	T	9: 110,850,018 (GRCm39)	P14S	probably benign	Het
Mapk8ip3	G	A	17: 25,124,206 (GRCm39)	R521C	probably damaging	Het
Nampt	C	A	12: 32,900,435 (GRCm39)	T460K	probably benign	Het
Nek9	T	C	12: 85,374,192 (GRCm39)	I282V	probably benign	Het
Ninl	A	T	2: 150,777,172 (GRCm39)	V1394E	probably damaging	Het
Obox6	G	A	7: 15,567,772 (GRCm39)	S225L	probably damaging	Het
Or6k4	A	G	1: 173,964,616 (GRCm39)	Y102C	probably damaging	Het
Pcdha4	A	G	18: 37,087,211 (GRCm39)	K465E	possibly damaging	Het
Pex11g	T	C	8: 3,507,308 (GRCm39)	K151R	unknown	Het
Pld2	T	C	11: 70,446,824 (GRCm39)	L811P	probably damaging	Het
Pum2	C	T	12: 8,778,726 (GRCm39)	R459*	probably null	Het
Ralgapa1	T	C	12: 55,785,101 (GRCm39)	S720G	probably damaging	Het
Rbbp6	T	A	7: 122,587,680 (GRCm39)		probably benign	Het
Rbl1	A	G	2: 157,038,073 (GRCm39)		probably null	Het
Reln	G	T	5: 22,130,257 (GRCm39)	R2685S	probably damaging	Het
Rnf213	T	C	11: 119,352,928 (GRCm39)	F3942L		Het
Rpusd2	T	C	2: 118,865,378 (GRCm39)	V25A	probably benign	Het
Rusc1	T	A	3: 88,999,540 (GRCm39)	I81L	probably benign	Het
Serpinb9b	A	G	13: 33,213,587 (GRCm39)	E48G	probably benign	Het
Skil	C	T	3: 31,167,592 (GRCm39)	P408L	probably damaging	Het
Slc17a4	A	G	13: 24,089,274 (GRCm39)	W186R	probably damaging	Het
Syvn1	T	C	19: 6,097,968 (GRCm39)	F2S	probably benign	Het
Tmc6	T	C	11: 117,665,901 (GRCm39)	M338V	possibly damaging	Het
Tnfrsf17	A	T	16: 11,137,819 (GRCm39)	R185S	possibly damaging	Het
Utp20	T	C	10: 88,583,157 (GRCm39)	K2732R	probably damaging	Het
Vmn1r58	A	T	7: 5,414,080 (GRCm39)	V50E	probably damaging	Het
Vmn2r114	T	A	17: 23,528,836 (GRCm39)	D422V	possibly damaging	Het
Vmn2r83	A	T	10: 79,314,261 (GRCm39)	I170F	probably benign	Het
Xdh	C	T	17: 74,225,405 (GRCm39)	V466I	probably benign	Het
Xndc1	A	G	7: 101,720,539 (GRCm39)	I6V	possibly damaging	Het
Zbtb38	T	C	9: 96,567,623 (GRCm39)	T1154A	probably benign	Het
Zfp160	T	A	17: 21,246,867 (GRCm39)	H472Q	probably damaging	Het
Zfp438	T	A	18: 5,213,417 (GRCm39)	T514S	possibly damaging	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
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
R9481:Hadhb	UTSW	5	30,368,711 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCTAGTGATAGAGCTGATGTCC -3'
(R):5'- AGTTTCAGGATGCTCTGGATC -3'

Sequencing Primer
(F):5'- ATAGAGCTGATGTCCTCTGGC -3'
(R):5'- AAATATACAAGTCTTACCTCAGGGG -3'

Posted On

2021-04-30