Mutagenetix > Incidental Mutations

Incidental Mutation 'R4276:Acad8'

322704

Institutional Source

Beutler Lab

Gene Symbol

Acad8

Ensembl Gene

ENSMUSG00000031969

Gene Name

acyl-Coenzyme A dehydrogenase family, member 8

Synonyms

MMRRC Submission

041647-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R4276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26974135-26999566 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26978449 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 316 (Q316H)

Ref Sequence

ENSEMBL: ENSMUSP00000112908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060513] [ENSMUST00000120367] [ENSMUST00000128923] [ENSMUST00000132293]

Predicted Effect

probably null
Transcript: ENSMUST00000060513
AA Change: Q316H

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054370
Gene: ENSMUSG00000031969
AA Change: Q316H

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	40	151	1e-28	PFAM
Pfam:Acyl-CoA_dh_M	155	207	1.8e-23	PFAM
Pfam:Acyl-CoA_dh_1	261	411	2.9e-47	PFAM
Pfam:Acyl-CoA_dh_2	276	399	1.8e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120367
AA Change: Q316H

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112908
Gene: ENSMUSG00000031969
AA Change: Q316H

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	40	151	7.8e-29	PFAM
Pfam:Acyl-CoA_dh_M	155	249	3.7e-28	PFAM
Pfam:Acyl-CoA_dh_1	261	411	5.7e-45	PFAM
Pfam:Acyl-CoA_dh_2	276	400	2.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129490

Predicted Effect

probably benign
Transcript: ENSMUST00000132293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151075

Predicted Effect

probably benign
Transcript: ENSMUST00000215693

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cold intolerance at young age with a progressive hepatic steatosis and abnormal mitochondria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Brix1	T	C	15: 10,481,747	D101G	possibly damaging	Het
Cfap36	A	G	11: 29,230,584		probably null	Het
Chrnb3	A	G	8: 27,393,751	N172S	probably damaging	Het
Csnk1e	T	C	15: 79,429,767	N37S	probably damaging	Het
Ern1	T	C	11: 106,407,181	I705V	probably benign	Het
Gimap8	T	C	6: 48,659,083	M594T	probably benign	Het
Gm6578	G	A	6: 12,100,188		noncoding transcript	Het
Gpc6	A	G	14: 117,435,916	D195G	probably damaging	Het
Gpcpd1	T	C	2: 132,540,287	K412E	probably damaging	Het
Insm1	C	A	2: 146,222,968	H235N	probably benign	Het
Jmjd8	A	G	17: 25,829,813		probably benign	Het
Kbtbd8	T	C	6: 95,126,933	V521A	probably damaging	Het
Kcna5	T	C	6: 126,533,366	T600A	probably damaging	Het
Kctd6	G	C	14: 8,222,806	R216P	probably damaging	Het
Lbx1	C	A	19: 45,235,089	V47L	probably benign	Het
Mefv	A	T	16: 3,715,569	N279K	probably benign	Het
Mroh1	T	G	15: 76,393,851	V24G	probably damaging	Het
Nt5c1b	A	G	12: 10,374,886	E142G	probably damaging	Het
Olfr1038-ps	G	A	2: 86,122,279	A119T	probably damaging	Het
Olfr1289	G	T	2: 111,483,504	V25L	probably damaging	Het
Padi2	A	G	4: 140,936,548	E404G	possibly damaging	Het
Pitpnb	A	G	5: 111,371,392		probably null	Het
Plxna4	T	C	6: 32,200,948	N1006S	probably benign	Het
Proc	A	G	18: 32,135,914	V6A	probably benign	Het
Prrc2c	T	A	1: 162,673,591	K1214N	probably damaging	Het
Pstpip2	A	G	18: 77,861,856	I122V	probably benign	Het
Pus10	A	G	11: 23,706,895	E207G	probably damaging	Het
Rabl2	G	A	15: 89,584,188		probably benign	Het
Rbp3	G	A	14: 33,958,650	V1070I	probably benign	Het
Rtl6	T	A	15: 84,557,196		probably benign	Het
Scn7a	T	G	2: 66,684,063	K1122N	probably damaging	Het
Spag16	A	G	1: 69,873,481		probably benign	Het
Spata13	C	T	14: 60,756,296	R396C	probably damaging	Het
Stmn4	A	T	14: 66,355,717		probably benign	Het
Syp	G	T	X: 7,638,692		probably benign	Het
Tmem260	C	T	14: 48,477,636	T249M	probably damaging	Het
Tnrc6b	A	G	15: 80,901,971	I1239V	probably benign	Het
Ubr3	C	T	2: 69,938,387	Q510*	probably null	Het
Vegfa	A	G	17: 46,031,466	V142A	probably benign	Het
Vmn2r93	T	C	17: 18,304,830	I250T	possibly damaging	Het

Other mutations in Acad8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Acad8	APN	9	26990594	missense	probably damaging	1.00
IGL01721:Acad8	APN	9	26992267	splice site	probably benign
R1473:Acad8	UTSW	9	26979041	missense	probably benign	0.00
R2102:Acad8	UTSW	9	26985565	nonsense	probably null
R3030:Acad8	UTSW	9	26979059	missense	probably benign	0.04
R4023:Acad8	UTSW	9	26979185	missense	probably benign	0.02
R4667:Acad8	UTSW	9	26990627	missense	probably damaging	1.00
R4668:Acad8	UTSW	9	26990627	missense	probably damaging	1.00
R4669:Acad8	UTSW	9	26990627	missense	probably damaging	1.00
R4898:Acad8	UTSW	9	26978402	missense	probably damaging	1.00
R5418:Acad8	UTSW	9	26985557	missense	probably damaging	1.00
R5486:Acad8	UTSW	9	26999495	start codon destroyed	probably null
R5549:Acad8	UTSW	9	26985551	missense	probably damaging	1.00
R5887:Acad8	UTSW	9	26979324	splice site	probably null
R5943:Acad8	UTSW	9	26999444	missense	probably benign	0.00
R7150:Acad8	UTSW	9	26978454	missense	probably damaging	1.00
R7197:Acad8	UTSW	9	26977671	splice site	probably null
R7226:Acad8	UTSW	9	26978430	nonsense	probably null
R7561:Acad8	UTSW	9	26979242	missense	probably benign	0.03
R7812:Acad8	UTSW	9	26979180	missense	probably damaging	1.00
R8360:Acad8	UTSW	9	26979056	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGTCTCAGGAAGGCCAGAAG -3'
(R):5'- GCAGTAATACCAAGGCAAGC -3'

Sequencing Primer
(F):5'- TCTCAGGAAGGCCAGAAGACTTATC -3'
(R):5'- CATGTCACAGTGCCTATGTAGAG -3'

Posted On

2015-06-20