Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Acadsb'

42473

Institutional Source

Beutler Lab

Gene Symbol

Acadsb

Ensembl Gene

ENSMUSG00000030861

Gene Name

acyl-Coenzyme A dehydrogenase, short/branched chain

Synonyms

1300003O09Rik

MMRRC Submission

038689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0491 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

131012330-131047940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131031836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 224 (D224G)

Ref Sequence

ENSEMBL: ENSMUSP00000015829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015829] [ENSMUST00000117518] [ENSMUST00000124096]

AlphaFold

Q9DBL1

Predicted Effect

probably benign
Transcript: ENSMUST00000015829
AA Change: D224G

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000015829
Gene: ENSMUSG00000030861
AA Change: D224G

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	58	170	9.9e-30	PFAM
Pfam:Acyl-CoA_dh_M	173	268	6.9e-29	PFAM
Pfam:Acyl-CoA_dh_1	280	428	6.5e-51	PFAM
Pfam:Acyl-CoA_dh_2	295	418	4.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117518
AA Change: D224G

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113948
Gene: ENSMUSG00000030861
AA Change: D224G

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	58	170	2.9e-29	PFAM
Pfam:Acyl-CoA_dh_M	173	268	1.2e-28	PFAM
Pfam:Acyl-CoA_dh_1	280	414	1.4e-41	PFAM
Pfam:Acyl-CoA_dh_2	295	415	2.6e-24	PFAM
transmembrane domain	417	439	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156261

Meta Mutation Damage Score

0.7729

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Short/branched chain acyl-CoA dehydrogenase(ACADSB) is 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. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,248,235 (GRCm39)	F2661L	probably benign	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts2	A	G	11: 50,667,457 (GRCm39)	D465G	probably damaging	Het
Akap9	A	T	5: 4,022,851 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,679,582 (GRCm39)	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,555,075 (GRCm39)	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,250,212 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,614,913 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,016,746 (GRCm39)		probably benign	Het
Clcn1	T	C	6: 42,287,515 (GRCm39)	F740L	probably benign	Het
Clec12a	T	A	6: 129,341,016 (GRCm39)	D265E	probably benign	Het
Clic3	T	A	2: 25,347,797 (GRCm39)		probably benign	Het
Cntnap3	T	G	13: 64,909,859 (GRCm39)	T749P	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Cplane1	T	A	15: 8,211,727 (GRCm39)	S356T	probably damaging	Het
Crxos	T	A	7: 15,632,460 (GRCm39)	S89T	probably benign	Het
Cxcr1	G	T	1: 74,231,468 (GRCm39)	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,410,486 (GRCm39)	N262K	possibly damaging	Het
Dennd2b	T	A	7: 109,156,411 (GRCm39)	Q113L	probably benign	Het
Dpy19l2	T	C	9: 24,607,324 (GRCm39)	R46G	probably benign	Het
Dpysl2	A	T	14: 67,045,411 (GRCm39)	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Eppin	T	A	2: 164,431,332 (GRCm39)	E98V	possibly damaging	Het
Fancm	A	T	12: 65,152,835 (GRCm39)	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,412,705 (GRCm39)	I75T	probably damaging	Het
Fmn2	A	G	1: 174,409,525 (GRCm39)	H586R	unknown	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Haus6	A	C	4: 86,521,083 (GRCm39)	V185G	possibly damaging	Het
Herc2	T	A	7: 55,772,114 (GRCm39)	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,057,136 (GRCm39)	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,326,896 (GRCm39)		probably benign	Het
Kbtbd2	G	A	6: 56,757,374 (GRCm39)	R121*	probably null	Het
Lgr4	C	T	2: 109,837,626 (GRCm39)		probably benign	Het
Lrrc55	T	C	2: 85,022,264 (GRCm39)	E309G	probably damaging	Het
Mertk	T	C	2: 128,635,027 (GRCm39)		probably null	Het
Micu3	A	G	8: 40,819,294 (GRCm39)		probably benign	Het
Mmp11	G	A	10: 75,762,592 (GRCm39)	A287V	probably benign	Het
Mpzl2	A	G	9: 44,954,039 (GRCm39)	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,415,752 (GRCm39)	R2899S	probably benign	Het
Myo1b	A	G	1: 51,794,857 (GRCm39)	Y1078H	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Ncapd3	T	G	9: 26,969,179 (GRCm39)	V611G	probably damaging	Het
Ntpcr	C	T	8: 126,464,093 (GRCm39)	R73*	probably null	Het
Or4c120	A	T	2: 89,000,704 (GRCm39)	V284E	probably benign	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Osbp2	A	G	11: 3,664,709 (GRCm39)	F88S	probably damaging	Het
Pkn3	A	T	2: 29,979,889 (GRCm39)	T711S	probably damaging	Het
Plekhm1	T	C	11: 103,285,602 (GRCm39)	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,486,065 (GRCm39)	T408A	probably benign	Het
Prss41	T	C	17: 24,061,477 (GRCm39)	T105A	possibly damaging	Het
Psme1	G	T	14: 55,817,378 (GRCm39)		probably benign	Het
Ptprq	A	T	10: 107,444,036 (GRCm39)	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,828,086 (GRCm39)	D470G	probably damaging	Het
Scarb1	A	G	5: 125,375,795 (GRCm39)		probably benign	Het
Slc25a54	G	A	3: 109,010,112 (GRCm39)	A204T	probably damaging	Het
Spink10	T	C	18: 62,793,036 (GRCm39)	C67R	probably damaging	Het
Tmtc1	A	T	6: 148,314,138 (GRCm39)		probably null	Het
Tprkb	A	G	6: 85,901,446 (GRCm39)	D28G	probably benign	Het
Ttll13	A	G	7: 79,910,098 (GRCm39)	H747R	probably benign	Het
Usp24	A	G	4: 106,259,302 (GRCm39)	S1608G	probably benign	Het
Utp20	A	T	10: 88,596,774 (GRCm39)	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,579,361 (GRCm39)	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,046,254 (GRCm39)	M103K	probably damaging	Het
Zfp595	C	T	13: 67,465,369 (GRCm39)	G298E	probably damaging	Het
Zfp738	T	G	13: 67,818,140 (GRCm39)	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,442,163 (GRCm39)	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,546,071 (GRCm39)	D80Y	probably damaging	Het

Other mutations in Acadsb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00581:Acadsb	APN	7	131,039,225 (GRCm39)	intron	probably benign
IGL02002:Acadsb	APN	7	131,030,258 (GRCm39)	missense	probably damaging	1.00
IGL02147:Acadsb	APN	7	131,027,610 (GRCm39)	splice site	probably benign
IGL02614:Acadsb	APN	7	131,026,357 (GRCm39)	missense	probably benign	0.00
IGL03038:Acadsb	APN	7	131,030,185 (GRCm39)	missense	probably damaging	1.00
IGL03083:Acadsb	APN	7	131,042,922 (GRCm39)	intron	probably benign
R0562:Acadsb	UTSW	7	131,027,518 (GRCm39)	nonsense	probably null
R0989:Acadsb	UTSW	7	131,030,273 (GRCm39)	missense	probably damaging	0.99
R1701:Acadsb	UTSW	7	131,026,213 (GRCm39)	missense	probably benign	0.00
R1827:Acadsb	UTSW	7	131,043,004 (GRCm39)	missense	probably damaging	1.00
R1860:Acadsb	UTSW	7	131,045,958 (GRCm39)	splice site	probably null
R2256:Acadsb	UTSW	7	131,045,382 (GRCm39)	missense	probably benign	0.23
R3798:Acadsb	UTSW	7	131,033,694 (GRCm39)	missense	probably damaging	1.00
R4519:Acadsb	UTSW	7	131,031,733 (GRCm39)	missense	probably damaging	0.99
R5020:Acadsb	UTSW	7	131,042,929 (GRCm39)	critical splice acceptor site	probably null
R5048:Acadsb	UTSW	7	131,039,198 (GRCm39)	missense	probably damaging	1.00
R5243:Acadsb	UTSW	7	131,045,972 (GRCm39)	missense	probably damaging	1.00
R5519:Acadsb	UTSW	7	131,031,694 (GRCm39)	missense	probably damaging	1.00
R5788:Acadsb	UTSW	7	131,045,328 (GRCm39)	missense	probably benign	0.23
R5855:Acadsb	UTSW	7	131,026,328 (GRCm39)	missense	probably damaging	1.00
R6399:Acadsb	UTSW	7	131,031,784 (GRCm39)	missense	probably damaging	1.00
R6896:Acadsb	UTSW	7	131,045,375 (GRCm39)	missense	probably benign	0.23
R6970:Acadsb	UTSW	7	131,036,044 (GRCm39)	missense	possibly damaging	0.85
R7031:Acadsb	UTSW	7	131,045,366 (GRCm39)	missense	probably benign	0.23
R7126:Acadsb	UTSW	7	131,039,177 (GRCm39)	missense	probably benign	0.01
R7138:Acadsb	UTSW	7	131,042,968 (GRCm39)	missense	probably damaging	1.00
R7571:Acadsb	UTSW	7	131,045,283 (GRCm39)	missense	probably damaging	1.00
R7697:Acadsb	UTSW	7	131,031,698 (GRCm39)	missense	probably damaging	1.00
R8271:Acadsb	UTSW	7	131,045,423 (GRCm39)	missense	unknown
R9089:Acadsb	UTSW	7	131,027,504 (GRCm39)	missense	probably damaging	1.00
R9177:Acadsb	UTSW	7	131,033,763 (GRCm39)	missense	probably damaging	1.00
R9268:Acadsb	UTSW	7	131,033,763 (GRCm39)	missense	probably damaging	1.00
R9763:Acadsb	UTSW	7	131,045,327 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TTTTGCCTCTCTGAAGCTGGAGCC -3'
(R):5'- TACTTTTCCACGCCCCACAGTGAG -3'

Sequencing Primer
(F):5'- AGCCGGTAGCGACTCTTTC -3'
(R):5'- TCTACCCAATTAAAGCTTAGGGAAC -3'

Posted On

2013-05-23