Mutagenetix > Incidental Mutation

Incidental Mutation 'R8429:Hadha'

653640

Institutional Source

Beutler Lab

Gene Symbol

Hadha

Ensembl Gene

ENSMUSG00000025745

Gene Name

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

Synonyms

Mtpa

MMRRC Submission

067774-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30324421-30359978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30349255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 119 (I119V)

Ref Sequence

ENSEMBL: ENSMUSP00000120976 (fasta)

Gene Model

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

AlphaFold

Q8BMS1

Predicted Effect

probably benign
Transcript: ENSMUST00000156859
AA Change: I119V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120976
Gene: ENSMUSG00000025745
AA Change: I119V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	T	17: 48,347,875 (GRCm39)	L143*	probably null	Het
2900026A02Rik	T	C	5: 113,331,302 (GRCm39)	T971A	probably benign	Het
Abca6	A	T	11: 110,093,208 (GRCm39)	C1022S	probably benign	Het
Adgrf4	G	T	17: 42,978,340 (GRCm39)	N334K	probably benign	Het
Baz1b	A	G	5: 135,246,185 (GRCm39)	K545E	probably benign	Het
Bin3	A	G	14: 70,374,598 (GRCm39)	Y209C	probably damaging	Het
Btbd16	G	A	7: 130,397,067 (GRCm39)	A223T	probably benign	Het
C3	A	G	17: 57,529,811 (GRCm39)	V555A	probably damaging	Het
Calm3	T	A	7: 16,653,592 (GRCm39)		probably null	Het
Cct4	T	A	11: 22,946,030 (GRCm39)	L124Q	probably damaging	Het
Cenpf	C	T	1: 189,389,504 (GRCm39)	D1443N	possibly damaging	Het
Egfem1	G	A	3: 29,711,417 (GRCm39)		probably null	Het
Epha4	G	T	1: 77,366,673 (GRCm39)	Q591K	probably benign	Het
Fanci	T	C	7: 79,088,133 (GRCm39)	F929L	possibly damaging	Het
Fnip1	A	T	11: 54,366,522 (GRCm39)	D95V	possibly damaging	Het
Foxc1	A	T	13: 31,991,759 (GRCm39)	H190L	probably benign	Het
Gm45713	T	C	7: 44,785,540 (GRCm39)	S2G	unknown	Het
Grin2b	T	C	6: 135,710,914 (GRCm39)	I877M	probably damaging	Het
Hcar2	C	T	5: 124,003,538 (GRCm39)		probably benign	Het
Irag2	C	A	6: 145,110,949 (GRCm39)	D251E	probably damaging	Het
Krt13	A	T	11: 100,011,951 (GRCm39)	L124Q	probably damaging	Het
Larp1b	A	G	3: 40,931,662 (GRCm39)	*336W	probably null	Het
Man2c1	T	C	9: 57,038,445 (GRCm39)	L35P	probably damaging	Het
Meioc	A	T	11: 102,565,032 (GRCm39)	N160I	probably benign	Het
Mfsd2b	G	T	12: 4,916,487 (GRCm39)	Q331K	possibly damaging	Het
Mical2	T	A	7: 111,944,460 (GRCm39)	V930E	probably benign	Het
Mrgprb4	A	T	7: 47,848,173 (GRCm39)	F252I	probably benign	Het
Nars1	A	G	18: 64,634,391 (GRCm39)	Y511H	probably damaging	Het
Naxe	C	A	3: 87,965,459 (GRCm39)	S84I	probably damaging	Het
Ncam2	A	T	16: 81,386,523 (GRCm39)	D634V	probably damaging	Het
Npat	C	T	9: 53,481,909 (GRCm39)	Q1206*	probably null	Het
Nr1d2	G	A	14: 18,215,409 (GRCm38)	T201I	probably benign	Het
Nt5el	A	G	13: 105,255,296 (GRCm39)	Y459C	probably damaging	Het
Nup155	C	T	15: 8,141,904 (GRCm39)	H99Y	probably damaging	Het
Or10ag60	G	T	2: 87,437,868 (GRCm39)	L45F	probably benign	Het
Or4f4b	G	A	2: 111,313,840 (GRCm39)	V50I	possibly damaging	Het
Or5ac25	A	G	16: 59,181,990 (GRCm39)	V197A	possibly damaging	Het
Or9k2b	A	G	10: 130,016,092 (GRCm39)	V219A	possibly damaging	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Pde6a	T	A	18: 61,365,916 (GRCm39)	Y214N	probably damaging	Het
Pex7	T	C	10: 19,770,074 (GRCm39)	T145A	probably damaging	Het
Plekhj1	C	T	10: 80,632,304 (GRCm39)	S146N	probably benign	Het
Ralgapb	C	T	2: 158,268,217 (GRCm39)	P107S	probably damaging	Het
Satb1	A	G	17: 52,074,978 (GRCm39)	M506T	probably damaging	Het
Sh3gl1	T	C	17: 56,325,821 (GRCm39)	N203D	possibly damaging	Het
Slc7a12	A	T	3: 14,562,342 (GRCm39)	I240F	probably benign	Het
Spata31h1	G	T	10: 82,125,301 (GRCm39)	Q2570K	possibly damaging	Het
Syt17	T	A	7: 118,033,564 (GRCm39)	Y144F	probably benign	Het
Thbd	G	T	2: 148,249,457 (GRCm39)	T137K	possibly damaging	Het
Tmem114	A	G	16: 8,230,031 (GRCm39)	F124L	probably damaging	Het
Ubtd1	G	T	19: 42,020,556 (GRCm39)		probably null	Het
Zfp458	A	G	13: 67,406,152 (GRCm39)	Y96H	possibly damaging	Het
Zfp78	T	C	7: 6,381,492 (GRCm39)	S181P	probably benign	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
IGL01413:Hadha	APN	5	30,346,025 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- CCATTCAGGCATTTGACAGCTG -3'
(R):5'- TTCTGTGTTTGAAGACTCATTGCC -3'

Sequencing Primer
(F):5'- CTACTCAGAAAACTGTTCTTTTGCTG -3'
(R):5'- GTTTGAAGACTCATTGCCAAATATTG -3'

Posted On

2020-10-20