Mutagenetix > Incidental Mutation

Incidental Mutation 'R9396:Acad8'

710837

Institutional Source

Beutler Lab

Gene Symbol

Acad8

Ensembl Gene

ENSMUSG00000031969

Gene Name

acyl-Coenzyme A dehydrogenase family, member 8

Synonyms

2310016C19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R9396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26885431-26910862 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26887041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 402 (M402T)

Ref Sequence

ENSEMBL: ENSMUSP00000054370 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000060513
AA Change: M402T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054370
Gene: ENSMUSG00000031969
AA Change: M402T

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 damaging
Transcript: ENSMUST00000120367
AA Change: M402T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112908
Gene: ENSMUSG00000031969
AA Change: M402T

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

probably benign
Transcript: ENSMUST00000132293

Predicted Effect

probably benign
Transcript: ENSMUST00000215693

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	A	17: 85,000,282 (GRCm39)	F281I	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Apol7a	T	C	15: 77,273,925 (GRCm39)	E179G	possibly damaging	Het
Asmt	A	G	X: 169,110,141 (GRCm39)	T217A	probably benign	Het
Cadm2	T	C	16: 66,544,102 (GRCm39)	Y318C	probably damaging	Het
Cckar	G	A	5: 53,864,623 (GRCm39)	T26M	probably damaging	Het
Cd300ld	G	A	11: 114,878,230 (GRCm39)	T94I	probably damaging	Het
Cdk5rap2	A	G	4: 70,172,903 (GRCm39)	Y1390H	possibly damaging	Het
Cdk5rap2	C	T	4: 70,182,895 (GRCm39)	S1268N	probably damaging	Het
Csrnp3	C	T	2: 65,832,841 (GRCm39)	R127C	probably damaging	Het
Dsc2	T	A	18: 20,174,773 (GRCm39)	R501*	probably null	Het
Dusp2	C	T	2: 127,179,638 (GRCm39)	R294C	probably damaging	Het
Edrf1	A	G	7: 133,261,838 (GRCm39)	K878E	possibly damaging	Het
Evc	T	C	5: 37,476,434 (GRCm39)	T372A	possibly damaging	Het
Fcgr1	T	A	3: 96,194,390 (GRCm39)	K166*	probably null	Het
Fstl4	C	A	11: 52,664,778 (GRCm39)	P36Q	probably benign	Het
Gas2l2	A	T	11: 83,313,659 (GRCm39)	I551N	probably benign	Het
Hc	G	T	2: 34,927,615 (GRCm39)	S333*	probably null	Het
Ibsp	A	G	5: 104,458,297 (GRCm39)	Y278C	probably damaging	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Kcnc3	T	C	7: 44,240,937 (GRCm39)	S210P	possibly damaging	Het
Klhl3	T	G	13: 58,161,662 (GRCm39)	T531P	probably damaging	Het
Mapt	C	A	11: 104,189,555 (GRCm39)	P191Q	possibly damaging	Het
Myh9	T	C	15: 77,647,496 (GRCm39)	T1840A	probably benign	Het
Myof	A	T	19: 37,923,294 (GRCm39)	C1320S	probably damaging	Het
Myom3	G	T	4: 135,513,199 (GRCm39)	V626L	probably benign	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Ndor1	A	G	2: 25,138,921 (GRCm39)	L321P	probably benign	Het
Nhsl1	T	A	10: 18,399,749 (GRCm39)	M291K	probably damaging	Het
Nubp2	C	T	17: 25,103,476 (GRCm39)	V134I	probably benign	Het
Nuf2	T	C	1: 169,337,917 (GRCm39)	I287V	probably benign	Het
Or1d2	T	A	11: 74,256,089 (GRCm39)	M198K	probably benign	Het
Or2n1	T	A	17: 38,486,421 (GRCm39)	W149R	probably damaging	Het
Or4k42	A	G	2: 111,319,864 (GRCm39)	L213P	probably benign	Het
Or51i2	A	G	7: 103,689,720 (GRCm39)	N239S	probably benign	Het
Or55b4	A	C	7: 102,134,180 (GRCm39)	V49G	possibly damaging	Het
Or5k3	G	A	16: 58,969,302 (GRCm39)	V30M	probably damaging	Het
Or8k28	A	T	2: 86,285,845 (GRCm39)	C257S	probably benign	Het
Pals1	G	T	12: 78,871,521 (GRCm39)	R367L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1r12a	A	G	10: 108,100,571 (GRCm39)	E863G	probably damaging	Het
Pskh1	C	T	8: 106,640,091 (GRCm39)	T257M	possibly damaging	Het
Rasgef1b	T	C	5: 99,377,188 (GRCm39)	I334V	probably benign	Het
Rnf180	T	A	13: 105,318,027 (GRCm39)	K462*	probably null	Het
Sin3a	A	G	9: 57,008,445 (GRCm39)	D455G	probably benign	Het
Slc15a4	A	G	5: 127,694,463 (GRCm39)		probably benign	Het
Slc2a13	T	C	15: 91,227,915 (GRCm39)	T426A	probably benign	Het
Smarca5	T	C	8: 81,463,358 (GRCm39)	K70R	probably benign	Het
Smg1	A	G	7: 117,807,303 (GRCm39)	V182A	unknown	Het
Stim1	G	A	7: 102,064,592 (GRCm39)	V221I	possibly damaging	Het
Tbx18	T	C	9: 87,609,432 (GRCm39)	D201G	probably damaging	Het
Tcf25	A	G	8: 124,127,831 (GRCm39)	E630G	probably benign	Het
Tm7sf3	T	C	6: 146,523,472 (GRCm39)	N135S	possibly damaging	Het
Togaram1	A	G	12: 65,014,429 (GRCm39)	N560S	probably damaging	Het
Unc13d	A	G	11: 115,966,529 (GRCm39)		probably null	Het
Zfp445	A	C	9: 122,681,581 (GRCm39)	S787A	probably benign	Het
Zfp949	T	C	9: 88,449,260 (GRCm39)	W22R	probably damaging	Het

Other mutations in Acad8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Acad8	APN	9	26,901,890 (GRCm39)	missense	probably damaging	1.00
IGL01721:Acad8	APN	9	26,903,563 (GRCm39)	splice site	probably benign
R1473:Acad8	UTSW	9	26,890,337 (GRCm39)	missense	probably benign	0.00
R2102:Acad8	UTSW	9	26,896,861 (GRCm39)	nonsense	probably null
R3030:Acad8	UTSW	9	26,890,355 (GRCm39)	missense	probably benign	0.04
R4023:Acad8	UTSW	9	26,890,481 (GRCm39)	missense	probably benign	0.02
R4276:Acad8	UTSW	9	26,889,745 (GRCm39)	missense	probably null	0.47
R4667:Acad8	UTSW	9	26,901,923 (GRCm39)	missense	probably damaging	1.00
R4668:Acad8	UTSW	9	26,901,923 (GRCm39)	missense	probably damaging	1.00
R4669:Acad8	UTSW	9	26,901,923 (GRCm39)	missense	probably damaging	1.00
R4898:Acad8	UTSW	9	26,889,698 (GRCm39)	missense	probably damaging	1.00
R5418:Acad8	UTSW	9	26,896,853 (GRCm39)	missense	probably damaging	1.00
R5486:Acad8	UTSW	9	26,910,791 (GRCm39)	start codon destroyed	probably null
R5549:Acad8	UTSW	9	26,896,847 (GRCm39)	missense	probably damaging	1.00
R5887:Acad8	UTSW	9	26,890,620 (GRCm39)	splice site	probably null
R5943:Acad8	UTSW	9	26,910,740 (GRCm39)	missense	probably benign	0.00
R7150:Acad8	UTSW	9	26,889,750 (GRCm39)	missense	probably damaging	1.00
R7197:Acad8	UTSW	9	26,888,967 (GRCm39)	splice site	probably null
R7226:Acad8	UTSW	9	26,889,726 (GRCm39)	nonsense	probably null
R7561:Acad8	UTSW	9	26,890,538 (GRCm39)	missense	probably benign	0.03
R7812:Acad8	UTSW	9	26,890,476 (GRCm39)	missense	probably damaging	1.00
R8360:Acad8	UTSW	9	26,890,352 (GRCm39)	missense	possibly damaging	0.94
R8752:Acad8	UTSW	9	26,896,853 (GRCm39)	missense	probably damaging	1.00
R8868:Acad8	UTSW	9	26,890,544 (GRCm39)	missense	probably damaging	1.00
R8919:Acad8	UTSW	9	26,910,785 (GRCm39)	missense	probably benign	0.00
R9300:Acad8	UTSW	9	26,888,928 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACAGCTCAGTCTGTTTAGAAG -3'
(R):5'- TTTCTTTGTTAAACTCCTGAGACTTT -3'

Sequencing Primer
(F):5'- TGTTTAGAAGAGCTCAGCCC -3'
(R):5'- TATTGAGTTCAAGGCCAGCC -3'

Posted On

2022-04-18