Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131410601-131448944 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131434315 bp

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]

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
1700017D01Rik	A	G	19: 11,112,314		probably null	Het
2410089E03Rik	T	C	15: 8,187,548	V750A	probably benign	Het
Adam17	A	G	12: 21,345,668	S285P	probably benign	Het
Adcy10	A	G	1: 165,556,916	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600		probably benign	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137	F188L	probably benign	Het
Dclk1	A	T	3: 55,466,601		probably benign	Het
Ddx20	A	T	3: 105,680,358	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422	E149G	probably damaging	Het
Fat4	A	G	3: 38,981,775	N3192S	probably damaging	Het
Fat4	A	T	3: 38,995,971	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,284,620		probably null	Het
Gm11639	A	G	11: 104,776,356	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Gm906	A	T	13: 50,246,971	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlxip	A	G	5: 123,445,672	T433A	possibly damaging	Het
Mus81	G	T	19: 5,485,526	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263	T54M	probably damaging	Het
Nalcn	A	G	14: 123,314,094	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,667,013	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656	S108G	probably benign	Het
Olfr980	T	A	9: 40,006,713	M79L	probably benign	Het
Pcdh15	C	T	10: 74,502,687	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264	Q168R	probably benign	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plekhm3	T	G	1: 64,892,753	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906		probably benign	Het
Qser1	A	G	2: 104,788,130	V779A	probably benign	Het
Rbm39	G	A	2: 156,167,584	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227		probably benign	Het
Rsl1d1	T	A	16: 11,193,694	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tepsin	G	A	11: 120,095,364	T168M	probably damaging	Het
Tex15	A	T	8: 33,557,428	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423		probably benign	Het
Tubgcp3	G	T	8: 12,637,000	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341	K681*	probably null	Het
Xrcc6	A	G	15: 82,031,174	K98E	probably benign	Het
Zfp423	A	G	8: 87,803,779	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,875,750	E14K	probably damaging	Het

Other mutations in Acadsb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00581:Acadsb	APN	7	131437496	intron	probably benign
IGL02002:Acadsb	APN	7	131428529	missense	probably damaging	1.00
IGL02147:Acadsb	APN	7	131425881	splice site	probably benign
IGL02614:Acadsb	APN	7	131424628	missense	probably benign	0.00
IGL03038:Acadsb	APN	7	131428456	missense	probably damaging	1.00
IGL03083:Acadsb	APN	7	131441193	intron	probably benign
R0491:Acadsb	UTSW	7	131430107	missense	probably benign	0.41
R0562:Acadsb	UTSW	7	131425789	nonsense	probably null
R0989:Acadsb	UTSW	7	131428544	missense	probably damaging	0.99
R1701:Acadsb	UTSW	7	131424484	missense	probably benign	0.00
R1827:Acadsb	UTSW	7	131441275	missense	probably damaging	1.00
R1860:Acadsb	UTSW	7	131444229	splice site	probably null
R2256:Acadsb	UTSW	7	131443653	missense	probably benign	0.23
R3798:Acadsb	UTSW	7	131431965	missense	probably damaging	1.00
R4519:Acadsb	UTSW	7	131430004	missense	probably damaging	0.99
R5020:Acadsb	UTSW	7	131441200	critical splice acceptor site	probably null
R5048:Acadsb	UTSW	7	131437469	missense	probably damaging	1.00
R5243:Acadsb	UTSW	7	131444243	missense	probably damaging	1.00
R5519:Acadsb	UTSW	7	131429965	missense	probably damaging	1.00
R5788:Acadsb	UTSW	7	131443599	missense	probably benign	0.23
R5855:Acadsb	UTSW	7	131424599	missense	probably damaging	1.00
R6399:Acadsb	UTSW	7	131430055	missense	probably damaging	1.00
R6896:Acadsb	UTSW	7	131443646	missense	probably benign	0.23
R7031:Acadsb	UTSW	7	131443637	missense	probably benign	0.23
R7126:Acadsb	UTSW	7	131437448	missense	probably benign	0.01
R7138:Acadsb	UTSW	7	131441239	missense	probably damaging	1.00
R7571:Acadsb	UTSW	7	131443554	missense	probably damaging	1.00
R7697:Acadsb	UTSW	7	131429969	missense	probably damaging	1.00
R8271:Acadsb	UTSW	7	131443694	missense	unknown

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