Mutagenetix > Incidental Mutation

Incidental Mutation 'R6970:Acadsb'

542184

Institutional Source

Beutler Lab

Gene Symbol

Acadsb

Ensembl Gene

ENSMUSG00000030861

Gene Name

acyl-Coenzyme A dehydrogenase, short/branched chain

Synonyms

1300003O09Rik

MMRRC Submission

045080-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131012330-131047940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131036044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 285 (Y285H)

Ref Sequence

ENSEMBL: ENSMUSP00000015829 (fasta)

Gene Model

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

AlphaFold

Q9DBL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015829
AA Change: Y285H

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000015829
Gene: ENSMUSG00000030861
AA Change: Y285H

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

possibly damaging
Transcript: ENSMUST00000117518
AA Change: Y285H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113948
Gene: ENSMUSG00000030861
AA Change: Y285H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	G	12: 21,395,669 (GRCm39)	S285P	probably benign	Het
Adcy10	A	G	1: 165,384,485 (GRCm39)	N1082S	probably benign	Het
Ahdc1	T	A	4: 132,789,656 (GRCm39)	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,602,945 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,895,805 (GRCm39)	V543A	probably damaging	Het
BC034090	T	A	1: 155,117,185 (GRCm39)	D311V	probably damaging	Het
Blnk	G	T	19: 40,950,821 (GRCm39)	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,875,927 (GRCm39)	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,529,903 (GRCm39)	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,491,954 (GRCm39)	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,507,248 (GRCm39)	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,723,902 (GRCm39)	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,008,149 (GRCm39)	F188L	probably benign	Het
Cplane1	T	C	15: 8,217,032 (GRCm39)	V750A	probably benign	Het
Dclk1	A	T	3: 55,374,022 (GRCm39)		probably benign	Het
Ddx20	A	T	3: 105,587,674 (GRCm39)	L434H	probably damaging	Het
Ddx51	G	A	5: 110,804,728 (GRCm39)	V547M	probably damaging	Het
Dnah11	T	A	12: 118,072,679 (GRCm39)	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,156,629 (GRCm39)	E149G	probably damaging	Het
Efcab3	A	G	11: 104,667,182 (GRCm39)	E1422G	probably benign	Het
Eif1ad8	G	T	12: 87,563,388 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,035,924 (GRCm39)	N3192S	probably damaging	Het
Fat4	A	T	3: 39,050,120 (GRCm39)	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,191,936 (GRCm39)		probably null	Het
Gm12185	G	A	11: 48,798,739 (GRCm39)	R585*	probably null	Het
Gm32687	A	G	10: 81,715,304 (GRCm39)	H232R	probably benign	Het
Gm5431	G	T	11: 48,779,317 (GRCm39)	A535D	probably damaging	Het
Jarid2	C	T	13: 45,056,461 (GRCm39)	P556S	probably damaging	Het
Map3k4	C	A	17: 12,467,803 (GRCm39)	G1077V	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mlxip	A	G	5: 123,583,735 (GRCm39)	T433A	possibly damaging	Het
Ms4a20	A	G	19: 11,089,678 (GRCm39)		probably null	Het
Mus81	G	T	19: 5,535,554 (GRCm39)	H199Q	probably benign	Het
Mylk3	G	A	8: 86,085,892 (GRCm39)	T54M	probably damaging	Het
Nalcn	A	G	14: 123,551,506 (GRCm39)	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,710,228 (GRCm39)	S513A	probably benign	Het
Ninj2	A	G	6: 120,175,092 (GRCm39)	I88V	possibly damaging	Het
Nomo1	C	T	7: 45,695,391 (GRCm39)	P277L	probably damaging	Het
Nup214	C	T	2: 31,941,810 (GRCm39)	S571L	probably damaging	Het
Or10g9b	T	A	9: 39,918,009 (GRCm39)	M79L	probably benign	Het
Or5b3	T	A	19: 13,388,792 (GRCm39)	N286K	probably damaging	Het
Or9a7	T	C	6: 40,521,590 (GRCm39)	S108G	probably benign	Het
Pcdh15	C	T	10: 74,338,519 (GRCm39)	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,375,070 (GRCm39)	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,000,860 (GRCm39)	C34R	probably damaging	Het
Plekha2	T	C	8: 25,549,280 (GRCm39)	Q168R	probably benign	Het
Plekha6	G	A	1: 133,191,556 (GRCm39)	A146T	probably benign	Het
Plekhm3	T	G	1: 64,931,912 (GRCm39)	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,366,380 (GRCm39)	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,241,119 (GRCm39)	Y302*	probably null	Het
Prdm8	A	G	5: 98,332,471 (GRCm39)	E124G	probably damaging	Het
Prg4	T	G	1: 150,331,657 (GRCm39)		probably benign	Het
Qser1	A	G	2: 104,618,475 (GRCm39)	V779A	probably benign	Het
Rbm39	G	A	2: 156,009,504 (GRCm39)	R123C	probably damaging	Het
Ric1	C	T	19: 29,565,172 (GRCm39)	P640S	probably damaging	Het
Rpl14	G	A	9: 120,403,293 (GRCm39)		probably benign	Het
Rsl1d1	T	A	16: 11,011,558 (GRCm39)	D382V	probably benign	Het
Rubcn	G	T	16: 32,688,514 (GRCm39)		probably benign	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,247,798 (GRCm39)	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,151,960 (GRCm39)	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,327,690 (GRCm39)	Y674S	probably damaging	Het
Spata31e3	A	T	13: 50,401,007 (GRCm39)	Y440N	possibly damaging	Het
Strc	A	C	2: 121,208,495 (GRCm39)	M292R	probably benign	Het
Syde2	A	G	3: 145,694,381 (GRCm39)	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,743,480 (GRCm39)	A97E	probably benign	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tepsin	G	A	11: 119,986,190 (GRCm39)	T168M	probably damaging	Het
Tex15	A	T	8: 34,047,456 (GRCm39)	M178L	probably benign	Het
Tgfbr2	T	C	9: 115,939,119 (GRCm39)	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,713,744 (GRCm39)	V2531A	probably damaging	Het
Ttn	T	G	2: 76,725,767 (GRCm39)		probably benign	Het
Tubgcp3	G	T	8: 12,687,000 (GRCm39)	D630E	probably damaging	Het
Ubr4	G	A	4: 139,133,839 (GRCm39)	W745*	probably null	Het
Vmn2r115	G	A	17: 23,564,989 (GRCm39)	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,078,340 (GRCm39)	K681*	probably null	Het
Xrcc6	A	G	15: 81,915,375 (GRCm39)	K98E	probably benign	Het
Zfp423	A	G	8: 88,530,407 (GRCm39)	V13A	probably benign	Het
Zfp512b	A	G	2: 181,228,141 (GRCm39)	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,717,670 (GRCm39)	E14K	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
R0491:Acadsb	UTSW	7	131,031,836 (GRCm39)	missense	probably benign	0.41
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
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'- TGATTGAGTAAGGTCACACAAATGG -3'
(R):5'- TTCTGGGCACTTACATAATTGACC -3'

Sequencing Primer
(F):5'- TCACACAAATGGGGGAGATTC -3'
(R):5'- TTCCCCTCATGCTAGGACAGG -3'

Posted On

2018-11-28