Mutagenetix > Incidental Mutation

Incidental Mutation 'R2064:Hadhb'

228954

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

040069-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R2064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30360251-30389591 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 30378796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110434 (fasta)

Gene Model

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

AlphaFold

Q99JY0

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000122934

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: ENSMUST00000133414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157488

Predicted Effect

probably benign
Transcript: ENSMUST00000197109

Predicted Effect

probably benign
Transcript: ENSMUST00000197109

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

99% (114/115)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Actr1b	A	G	1: 36,741,168 (GRCm39)	F138L	possibly damaging	Het
Adamts14	G	T	10: 61,041,301 (GRCm39)	P803Q	probably benign	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Aldh16a1	C	T	7: 44,796,585 (GRCm39)		probably null	Het
Alg12	A	G	15: 88,696,318 (GRCm39)	W238R	probably damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Arhgap23	T	A	11: 97,383,888 (GRCm39)	C1144S	probably benign	Het
Arhgef40	G	A	14: 52,233,640 (GRCm39)	V829M	probably damaging	Het
Atg7	C	A	6: 114,680,324 (GRCm39)	N344K	probably damaging	Het
Aunip	T	A	4: 134,250,618 (GRCm39)	S188T	probably benign	Het
Bmpr1b	A	T	3: 141,576,568 (GRCm39)	H88Q	probably benign	Het
Brpf3	G	A	17: 29,040,338 (GRCm39)	G920S	probably benign	Het
Cdc123	C	T	2: 5,800,354 (GRCm39)		probably benign	Het
Cdhr1	T	C	14: 36,817,062 (GRCm39)	R100G	probably benign	Het
Cdkn2d	A	G	9: 21,202,175 (GRCm39)	V24A	probably damaging	Het
Cirbp	T	C	10: 80,006,166 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Col12a1	A	G	9: 79,569,736 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,215,649 (GRCm39)	S402T	probably damaging	Het
Cpox	T	A	16: 58,494,772 (GRCm39)	C270S	probably benign	Het
Cspg4	A	G	9: 56,803,940 (GRCm39)	D1677G	probably damaging	Het
Cyp4a10	T	A	4: 115,381,917 (GRCm39)		probably benign	Het
Dctn4	T	C	18: 60,671,349 (GRCm39)	F74L	possibly damaging	Het
Dennd5a	G	A	7: 109,497,900 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah9	C	T	11: 66,036,261 (GRCm39)	S185N	probably benign	Het
Dqx1	T	G	6: 83,035,524 (GRCm39)		probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Ep400	A	C	5: 110,883,270 (GRCm39)		probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Exoc2	T	C	13: 31,119,544 (GRCm39)	D119G	probably benign	Het
Fbn2	C	T	18: 58,181,921 (GRCm39)	E1827K	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fgd6	G	A	10: 93,880,903 (GRCm39)	A586T	probably damaging	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm12888	A	T	4: 121,182,069 (GRCm39)	W8R	unknown	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm6214	A	G	3: 140,544,978 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gmeb2	A	G	2: 180,895,763 (GRCm39)	L469P	probably benign	Het
Gosr1	T	C	11: 76,628,224 (GRCm39)	I177V	probably benign	Het
Gria1	T	C	11: 57,208,534 (GRCm39)	F810L	probably damaging	Het
Gtf2ird2	C	T	5: 134,245,340 (GRCm39)	Q533*	probably null	Het
Hat1	A	T	2: 71,240,504 (GRCm39)	Y66F	possibly damaging	Het
Hk1	T	C	10: 62,122,315 (GRCm39)	Y488C	probably benign	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il19	T	C	1: 130,866,854 (GRCm39)	H42R	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Impg2	G	A	16: 56,063,993 (GRCm39)		probably null	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itga9	T	C	9: 118,636,361 (GRCm39)	F683S	probably damaging	Het
Itih2	A	G	2: 10,135,385 (GRCm39)	S2P	possibly damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Kcnab1	A	G	3: 65,272,060 (GRCm39)	E315G	probably benign	Het
Kcnmb2	A	C	3: 32,252,437 (GRCm39)	I213L	probably damaging	Het
Khdc1a	T	A	1: 21,421,196 (GRCm39)	M127K	probably benign	Het
Klhl28	T	C	12: 64,990,246 (GRCm39)	N565S	probably benign	Het
Lcp1	A	G	14: 75,435,515 (GRCm39)		probably null	Het
Mcm4	T	C	16: 15,452,333 (GRCm39)	T267A	possibly damaging	Het
Mlxipl	A	T	5: 135,161,631 (GRCm39)	T517S	possibly damaging	Het
Mpp3	T	A	11: 101,891,516 (GRCm39)	I541L	probably benign	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Myh15	G	A	16: 48,975,984 (GRCm39)	A1351T	possibly damaging	Het
Nacc1	A	T	8: 85,399,747 (GRCm39)	M490K	probably benign	Het
Nbeal1	C	A	1: 60,309,515 (GRCm39)	Q496K	possibly damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or14j1	T	A	17: 38,145,893 (GRCm39)	M1K	probably null	Het
Pard3	T	C	8: 128,337,092 (GRCm39)	L1236P	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Phf21a	C	A	2: 92,157,422 (GRCm39)	N183K	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Prl3c1	G	A	13: 27,380,720 (GRCm39)		probably null	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Psg16	T	G	7: 16,827,673 (GRCm39)	S210A	possibly damaging	Het
Psg25	T	A	7: 18,255,178 (GRCm39)	K446M	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rgs7	A	T	1: 174,949,508 (GRCm39)	F160L	probably damaging	Het
Rpl22l1	A	T	3: 28,860,957 (GRCm39)	E57D	possibly damaging	Het
Rpl35	A	G	2: 38,894,753 (GRCm39)	L44P	possibly damaging	Het
Rtn4r	T	C	16: 17,969,121 (GRCm39)	L183P	probably damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc4a7	G	A	14: 14,733,773 (GRCm38)	R67H	probably damaging	Het
Smg1	C	T	7: 117,756,090 (GRCm39)		probably benign	Het
Smurf2	T	C	11: 106,762,374 (GRCm39)	T39A	probably damaging	Het
Sspo	A	T	6: 48,450,596 (GRCm39)	D2595V	probably damaging	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Tbc1d14	G	A	5: 36,680,274 (GRCm39)	R68*	probably null	Het
Tgm1	A	G	14: 55,946,928 (GRCm39)	I360T	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Traf1	A	T	2: 34,838,202 (GRCm39)	I212N	probably benign	Het
Ttc17	C	A	2: 94,196,892 (GRCm39)	W485L	probably damaging	Het
Ttn	C	A	2: 76,768,675 (GRCm39)	V2920F	probably damaging	Het
Tyr	T	C	7: 87,142,051 (GRCm39)	I93V	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vmn1r212	A	G	13: 23,068,285 (GRCm39)	V16A	probably benign	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Xirp1	T	C	9: 119,845,962 (GRCm39)	I974V	probably benign	Het
Zap70	A	G	1: 36,818,215 (GRCm39)	T301A	probably benign	Het
Zfhx4	A	G	3: 5,463,987 (GRCm39)	K1382E	probably damaging	Het
Zfp280b	T	A	10: 75,875,017 (GRCm39)	C299S	probably damaging	Het
Zfp352	C	T	4: 90,113,357 (GRCm39)	S499L	probably benign	Het
Zfp423	G	A	8: 88,507,986 (GRCm39)	A661V	probably benign	Het
Zfp57	T	A	17: 37,320,568 (GRCm39)	F141I	possibly damaging	Het
Zfp946	A	T	17: 22,674,446 (GRCm39)	H400L	probably damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CCGGAGTTGTCAAGTCCTAC -3'
(R):5'- CTGAGTAAGGACAGGCGCT -3'

Sequencing Primer
(F):5'- CTCAGTGGCATAAGGTCTGAACC -3'
(R):5'- TGGCCCAGAGTCTTGGC -3'

Posted On

2014-09-17