Mutagenetix > Incidental Mutation

Incidental Mutation 'R8787:Hadh'

670689

Institutional Source

Beutler Lab

Gene Symbol

Hadh

Ensembl Gene

ENSMUSG00000027984

Gene Name

hydroxyacyl-Coenzyme A dehydrogenase

Synonyms

Schad, Hadhsc

MMRRC Submission

068633-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R8787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131027068-131065750 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131027825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 313 (Y313F)

Ref Sequence

ENSEMBL: ENSMUSP00000029610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029610]

AlphaFold

Q61425

Predicted Effect

probably damaging
Transcript: ENSMUST00000029610
AA Change: Y313F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029610
Gene: ENSMUSG00000027984
AA Change: Y313F

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	4	87	1.2e-7	PFAM
Pfam:3HCDH_N	29	214	1.4e-66	PFAM
Pfam:3HCDH	216	313	7e-36	PFAM

Coding Region Coverage

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

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased susceptibility to diet-induced obesity associated with impaired fatty acid oxidation, impaired fat tolerance, decreased ketone bodies, and increased glucose-stimulated insulin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,225,053 (GRCm39)	H511Y	possibly damaging	Het
Acp5	G	A	9: 22,038,489 (GRCm39)	R271*	probably null	Het
Adamts20	A	T	15: 94,184,294 (GRCm39)	V1503E	possibly damaging	Het
Adra2b	A	T	2: 127,206,417 (GRCm39)	E311D	probably benign	Het
Aldh18a1	T	C	19: 40,546,230 (GRCm39)	I556V	possibly damaging	Het
Alox12	C	A	11: 70,144,146 (GRCm39)	A116S	probably benign	Het
Alox5	G	T	6: 116,390,102 (GRCm39)	A552E	probably damaging	Het
Angpt1	G	T	15: 42,375,780 (GRCm39)	L159I	probably damaging	Het
Atp2b4	CTT	CTTTTT	1: 133,629,485 (GRCm39)		probably benign	Het
Bub1b	T	A	2: 118,462,305 (GRCm39)	L726I	probably damaging	Het
Ccdc78	A	T	17: 26,006,807 (GRCm39)	T165S	probably benign	Het
Ccdc88b	T	C	19: 6,824,791 (GRCm39)	D1323G	probably damaging	Het
Chek1	A	T	9: 36,625,033 (GRCm39)	C349*	probably null	Het
Clec1a	A	T	6: 129,428,617 (GRCm39)	L21Q	possibly damaging	Het
Col1a1	T	C	11: 94,833,634 (GRCm39)	V445A	possibly damaging	Het
Efcab7	A	G	4: 99,757,791 (GRCm39)	T313A	probably null	Het
Fads1	T	A	19: 10,170,325 (GRCm39)	Y288*	probably null	Het
Fgb	T	A	3: 82,953,969 (GRCm39)	T90S	probably benign	Het
Glg1	C	A	8: 111,888,114 (GRCm39)	V1026L	probably damaging	Het
Htr4	A	G	18: 62,570,853 (GRCm39)	I303V	possibly damaging	Het
Kcnn3	A	G	3: 89,552,757 (GRCm39)	D487G	possibly damaging	Het
L1td1	G	A	4: 98,625,814 (GRCm39)	V604I	probably benign	Het
Lao1	A	G	4: 118,825,565 (GRCm39)	T462A	probably damaging	Het
Lefty1	C	A	1: 180,764,118 (GRCm39)	A86E	probably damaging	Het
Lmx1b	T	C	2: 33,529,522 (GRCm39)	Y79C		Het
Lrp2	A	G	2: 69,382,745 (GRCm39)	C47R	probably damaging	Het
Mrc2	A	T	11: 105,238,465 (GRCm39)	N1204I	probably benign	Het
Ncf1	A	C	5: 134,254,145 (GRCm39)	Y209*	probably null	Het
Or14j7	T	A	17: 38,235,075 (GRCm39)	M206K	probably benign	Het
Or2ad1	A	T	13: 21,326,453 (GRCm39)	M258K	possibly damaging	Het
Or8k33	G	A	2: 86,384,297 (GRCm39)	T57M	probably damaging	Het
Oxtr	T	G	6: 112,466,871 (GRCm39)		probably benign	Het
Pcdhac1	T	C	18: 37,224,942 (GRCm39)	V585A	probably damaging	Het
Pdcd11	T	G	19: 47,097,019 (GRCm39)	L755R	probably damaging	Het
Pkhd1	A	G	1: 20,358,461 (GRCm39)	V2705A	probably damaging	Het
Plch2	C	A	4: 155,070,875 (GRCm39)	G1168V	probably benign	Het
Prpf39	T	C	12: 65,089,555 (GRCm39)	Y98H	possibly damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rassf10	T	A	7: 112,554,738 (GRCm39)	D446E	probably benign	Het
Rgs13	T	C	1: 144,016,482 (GRCm39)	Y87C	probably damaging	Het
Serpinb9h	G	A	13: 33,588,204 (GRCm39)	R263H	probably benign	Het
Smpd3	G	A	8: 106,982,377 (GRCm39)	R576C	probably damaging	Het
Spata31e1	T	C	13: 49,938,704 (GRCm39)	Y1002C	probably damaging	Het
Srsf11	A	T	3: 157,718,037 (GRCm39)	D382E	unknown	Het
Stpg1	T	A	4: 135,261,108 (GRCm39)	M306K	probably benign	Het
Svil	C	T	18: 5,059,332 (GRCm39)	Q696*	probably null	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Synj2	T	C	17: 6,036,514 (GRCm39)	F161S	possibly damaging	Het
Tek	T	C	4: 94,738,037 (GRCm39)	Y696H	probably damaging	Het
Tgfbr1	A	T	4: 47,405,555 (GRCm39)	D386V	possibly damaging	Het
Tgm4	G	T	9: 122,890,910 (GRCm39)	G503V	probably damaging	Het
Tnni3k	T	C	3: 154,645,691 (GRCm39)	E461G	probably damaging	Het
Tom1l1	A	T	11: 90,561,931 (GRCm39)	H232Q	probably benign	Het
Ubqln5	T	C	7: 103,778,329 (GRCm39)	N165S	probably benign	Het
Vmn1r24	G	A	6: 57,932,958 (GRCm39)	L187F	probably benign	Het
Vmn2r82	C	T	10: 79,213,894 (GRCm39)	T160I	probably damaging	Het
Vmn2r96	G	T	17: 18,818,250 (GRCm39)	G801V	probably damaging	Het
Vps39	A	G	2: 120,172,506 (GRCm39)	S176P	probably damaging	Het
Vsig10	C	A	5: 117,472,981 (GRCm39)	H191Q	probably benign	Het
Wtap	G	A	17: 13,186,488 (GRCm39)	S353L	possibly damaging	Het
Zmym4	T	G	4: 126,816,953 (GRCm39)	R248S	probably benign	Het
Zscan10	A	G	17: 23,829,011 (GRCm39)	S518G	probably benign	Het
Zscan29	A	T	2: 120,996,876 (GRCm39)	Y282N	probably damaging	Het

Other mutations in Hadh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Hadh	APN	3	131,043,465 (GRCm39)	missense	probably benign
IGL01062:Hadh	APN	3	131,034,640 (GRCm39)	missense	probably damaging	1.00
IGL01106:Hadh	APN	3	131,034,619 (GRCm39)	missense	possibly damaging	0.89
IGL02629:Hadh	APN	3	131,029,284 (GRCm39)	missense	probably damaging	1.00
IGL02717:Hadh	APN	3	131,043,559 (GRCm39)	missense	probably benign
IGL03180:Hadh	APN	3	131,065,533 (GRCm39)	missense	probably benign	0.08
IGL03240:Hadh	APN	3	131,042,192 (GRCm39)	missense	probably benign
R0081:Hadh	UTSW	3	131,029,285 (GRCm39)	missense	probably damaging	1.00
R1687:Hadh	UTSW	3	131,038,898 (GRCm39)	missense	probably benign	0.00
R2000:Hadh	UTSW	3	131,038,888 (GRCm39)	missense	probably benign	0.11
R4989:Hadh	UTSW	3	131,029,197 (GRCm39)	nonsense	probably null
R6851:Hadh	UTSW	3	131,065,620 (GRCm39)	missense	possibly damaging	0.91
R8906:Hadh	UTSW	3	131,038,891 (GRCm39)	missense	probably benign
R9245:Hadh	UTSW	3	131,034,636 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGTGGAAGAACCCCATG -3'
(R):5'- CAATGTTGGCTGTACCCGTG -3'

Sequencing Primer
(F):5'- GTGGAAGAACCCCATGACTGC -3'
(R):5'- ATGGATTCTGTGCCCCAGG -3'

Posted On

2021-04-30