Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01413:Hadha'

80115

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) question?

Stock #

IGL01413

Quality Score

Status

Chromosome

Chromosomal Location

30324421-30359978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30346025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 200 (M200L)

Ref Sequence

ENSEMBL: ENSMUSP00000120976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000156859]

AlphaFold

Q8BMS1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000026843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130358

Predicted Effect

probably benign
Transcript: ENSMUST00000156859
AA Change: M200L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000120976
Gene: ENSMUSG00000025745
AA Change: M200L

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: ENSMUST00000197491

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	T	18: 74,939,015 (GRCm39)		probably benign	Het
Adgrl1	T	A	8: 84,656,486 (GRCm39)	I268N	probably damaging	Het
Asic1	T	A	15: 99,569,998 (GRCm39)	N106K	probably damaging	Het
Ass1	A	G	2: 31,366,934 (GRCm39)	Y11C	probably damaging	Het
Cd44	T	C	2: 102,644,632 (GRCm39)	E448G	probably damaging	Het
Cdca2	A	G	14: 67,915,343 (GRCm39)	S639P	probably damaging	Het
Cfap221	T	A	1: 119,912,801 (GRCm39)	H91L	possibly damaging	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cnga4	A	T	7: 105,054,169 (GRCm39)	M46L	probably benign	Het
Col4a4	C	T	1: 82,448,969 (GRCm39)	G1207E	unknown	Het
Cracdl	G	A	1: 37,651,387 (GRCm39)	A1160V	possibly damaging	Het
Cthrc1	T	A	15: 38,943,894 (GRCm39)	L58Q	possibly damaging	Het
Cyb561a3	T	A	19: 10,562,610 (GRCm39)	H83Q	probably damaging	Het
Dlgap1	C	A	17: 70,823,069 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,323,790 (GRCm39)	L3707F	probably damaging	Het
Dnai7	A	T	6: 145,120,812 (GRCm39)	M669K	probably damaging	Het
Duox1	A	G	2: 122,151,191 (GRCm39)	N289D	probably benign	Het
Fbrsl1	T	A	5: 110,526,114 (GRCm39)	E443D	probably damaging	Het
Fgfr1	T	A	8: 26,052,239 (GRCm39)	C288*	probably null	Het
Gabbr1	A	G	17: 37,373,598 (GRCm39)	N498S	possibly damaging	Het
Gja10	T	C	4: 32,602,070 (GRCm39)	K105E	probably damaging	Het
Glra4	C	T	X: 135,663,493 (GRCm39)	R352H	probably benign	Het
Gm19402	G	T	10: 77,526,323 (GRCm39)		probably benign	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Huwe1	A	T	X: 150,665,676 (GRCm39)	Q1231L	possibly damaging	Het
Ifi214	T	A	1: 173,356,995 (GRCm39)	N36I	probably damaging	Het
Il17ra	A	G	6: 120,452,542 (GRCm39)	N242D	probably benign	Het
Il1rl1	A	T	1: 40,485,329 (GRCm39)	K260N	possibly damaging	Het
Lhx6	C	A	2: 35,993,528 (GRCm39)	A57S	probably benign	Het
Mdh2	T	A	5: 135,814,879 (GRCm39)	I116N	probably damaging	Het
Met	T	C	6: 17,558,895 (GRCm39)		probably benign	Het
Mgam	A	G	6: 40,638,211 (GRCm39)	D387G	probably damaging	Het
Myo3a	T	C	2: 22,302,411 (GRCm39)	S287P	probably benign	Het
Nol8	T	G	13: 49,813,428 (GRCm39)	N140K	possibly damaging	Het
Nrap	C	A	19: 56,377,823 (GRCm39)	A56S	probably damaging	Het
Nuggc	A	G	14: 65,876,030 (GRCm39)	T548A	probably benign	Het
Or10j2	T	A	1: 173,098,275 (GRCm39)	C178S	probably damaging	Het
Or2i1	A	T	17: 37,508,554 (GRCm39)	F102I	possibly damaging	Het
Pcdh11x	A	G	X: 119,309,282 (GRCm39)	T242A	probably benign	Het
Pcdhb8	A	G	18: 37,489,029 (GRCm39)	N236D	probably damaging	Het
Pdzph1	T	C	17: 59,186,147 (GRCm39)	I1215V	possibly damaging	Het
Plekha8	C	T	6: 54,599,261 (GRCm39)	T265I	probably benign	Het
Pou4f2	T	A	8: 79,161,734 (GRCm39)	I290F	probably damaging	Het
Pramel22	A	T	4: 143,381,887 (GRCm39)	F270I	probably benign	Het
Ptpn3	G	A	4: 57,270,156 (GRCm39)	T2I	probably damaging	Het
Rab28	A	T	5: 41,855,790 (GRCm39)	D68E	probably damaging	Het
Rbl1	T	C	2: 156,994,812 (GRCm39)		probably null	Het
Samd4	A	G	14: 47,254,249 (GRCm39)	T137A	probably benign	Het
Serpinb1b	T	G	13: 33,277,842 (GRCm39)	D358E	probably damaging	Het
Serpinb9c	G	A	13: 33,335,787 (GRCm39)	L222F	probably damaging	Het
Slc24a3	A	G	2: 145,482,169 (GRCm39)	D609G	probably damaging	Het
Slc25a40	A	C	5: 8,503,298 (GRCm39)	*338Y	probably null	Het
Spef2	T	A	15: 9,676,376 (GRCm39)	I732L	probably benign	Het
Srrm2	T	C	17: 24,034,999 (GRCm39)		probably benign	Het
Ssxb13	A	G	X: 8,615,692 (GRCm39)	E75G	probably benign	Het
Stmnd1	A	T	13: 46,453,157 (GRCm39)	I278L	probably benign	Het
Strap	C	A	6: 137,722,502 (GRCm39)		probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tcf4	A	C	18: 69,788,090 (GRCm39)	E160D	probably damaging	Het
Themis3	A	G	17: 66,863,092 (GRCm39)	Y289H	probably benign	Het
Tmem87a	T	C	2: 120,216,351 (GRCm39)	T180A	probably benign	Het
Trappc10	A	G	10: 78,033,678 (GRCm39)	V963A	possibly damaging	Het
Trav19	G	T	14: 54,083,072 (GRCm39)	C49F	probably damaging	Het
Trim30c	A	G	7: 104,031,541 (GRCm39)	S425P	possibly damaging	Het
Ubap1	A	T	4: 41,387,333 (GRCm39)	R414S	probably benign	Het
Usp9x	A	G	X: 13,017,579 (GRCm39)	S1696G	probably benign	Het
Vipas39	G	A	12: 87,296,171 (GRCm39)	T274I	probably benign	Het
Vmn1r185	A	T	7: 26,311,046 (GRCm39)	V153E	probably damaging	Het
Vmn2r124	A	G	17: 18,282,827 (GRCm39)	T174A	probably benign	Het
Wdr59	T	A	8: 112,227,706 (GRCm39)	S124C	probably benign	Het
Xirp2	A	T	2: 67,340,270 (GRCm39)	D837V	probably damaging	Het
Zfp185	A	G	X: 72,061,997 (GRCm39)	D403G	possibly damaging	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	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
IGL00435:Hadha	APN	5	30,327,171 (GRCm39)	missense	probably benign	0.12
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

2013-11-05