Mutagenetix > Incidental Mutation

Incidental Mutation 'R0562:Acadsb'

45946

Institutional Source

Beutler Lab

Gene Symbol

Acadsb

Ensembl Gene

ENSMUSG00000030861

Gene Name

acyl-Coenzyme A dehydrogenase, short/branched chain

Synonyms

1300003O09Rik

MMRRC Submission

038753-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0562 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

131012330-131047940 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 131027518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 63 (Q63*)

Gene Model

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

AlphaFold

Q9DBL1

Predicted Effect

probably null
Transcript: ENSMUST00000015829
AA Change: Q73*

SMART Domains

Protein: ENSMUSP00000015829
Gene: ENSMUSG00000030861
AA Change: Q73*

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 null
Transcript: ENSMUST00000117518
AA Change: Q73*

SMART Domains

Protein: ENSMUSP00000113948
Gene: ENSMUSG00000030861
AA Change: Q73*

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 null
Transcript: ENSMUST00000133277
AA Change: Q63*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156261

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	A	T	8: 43,973,408 (GRCm39)	N531K	probably benign	Het
Agt	A	G	8: 125,286,014 (GRCm39)	I356T	probably benign	Het
Ankmy1	A	T	1: 92,827,413 (GRCm39)		probably benign	Het
Anxa3	C	T	5: 96,960,743 (GRCm39)	S49L	possibly damaging	Het
Arap3	C	A	18: 38,108,593 (GRCm39)	R1279L	probably damaging	Het
Azin1	A	G	15: 38,493,825 (GRCm39)	I266T	probably benign	Het
Btnl7-ps	T	C	17: 34,752,498 (GRCm39)		noncoding transcript	Het
Car5a	T	A	8: 122,671,469 (GRCm39)	T22S	probably benign	Het
Card6	A	G	15: 5,134,648 (GRCm39)	I185T	probably damaging	Het
Ccdc81	T	C	7: 89,552,437 (GRCm39)	D11G	probably benign	Het
Cep170b	T	C	12: 112,705,623 (GRCm39)	V1127A	probably benign	Het
Ces1h	T	C	8: 94,083,771 (GRCm39)	I390M	unknown	Het
Col9a1	T	A	1: 24,218,360 (GRCm39)		probably null	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Cyb561a3	T	C	19: 10,564,074 (GRCm39)	V138A	probably benign	Het
Dcaf1	T	C	9: 106,721,321 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,963,726 (GRCm39)	Y2516H	probably damaging	Het
Dsc2	T	A	18: 20,174,594 (GRCm39)	N521Y	probably damaging	Het
Dst	G	A	1: 34,267,062 (GRCm39)	E4835K	probably damaging	Het
Duox2	T	C	2: 122,120,080 (GRCm39)	E810G	probably damaging	Het
Dusp15	T	C	2: 152,793,268 (GRCm39)	N3S	possibly damaging	Het
Eif1ad9	A	G	12: 88,296,436 (GRCm39)	D138G	unknown	Het
Epha4	T	C	1: 77,365,124 (GRCm39)	K625R	probably benign	Het
Fcgbpl1	G	A	7: 27,862,115 (GRCm39)	V2394I	probably benign	Het
Gata5	C	T	2: 179,969,552 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,252,227 (GRCm39)	N159S	probably damaging	Het
Hivep3	T	A	4: 119,953,751 (GRCm39)	M689K	probably benign	Het
Ift56	T	A	6: 38,378,064 (GRCm39)	V292E	probably damaging	Het
Ilvbl	G	T	10: 78,419,321 (GRCm39)	G499C	probably damaging	Het
Inpp4b	T	C	8: 82,494,780 (GRCm39)	I65T	possibly damaging	Het
Jarid2	T	C	13: 45,055,835 (GRCm39)	V208A	probably damaging	Het
Kcnh4	T	C	11: 100,641,070 (GRCm39)	M460V	possibly damaging	Het
Klhl22	A	G	16: 17,610,488 (GRCm39)	N580D	probably benign	Het
Klk15	T	A	7: 43,588,269 (GRCm39)	C192*	probably null	Het
Klk1b9	A	G	7: 43,445,090 (GRCm39)	E194G	probably damaging	Het
Lama1	G	T	17: 68,122,954 (GRCm39)	G2779V	probably damaging	Het
Lmln	C	T	16: 32,937,455 (GRCm39)	R607*	probably null	Het
Maea	T	C	5: 33,529,645 (GRCm39)	V377A	probably benign	Het
Matk	A	T	10: 81,095,525 (GRCm39)	Y115F	probably benign	Het
Mettl18	A	G	1: 163,824,062 (GRCm39)	K128E	probably benign	Het
Mrps22	T	C	9: 98,474,746 (GRCm39)	H246R	probably benign	Het
Msln	A	T	17: 25,971,980 (GRCm39)	M79K	probably benign	Het
Myf6	G	A	10: 107,330,420 (GRCm39)	P49L	probably benign	Het
Nat1	C	T	8: 67,943,963 (GRCm39)	T113I	possibly damaging	Het
Ncor2	C	T	5: 125,162,093 (GRCm39)	V394M	unknown	Het
Oas1c	T	C	5: 120,943,669 (GRCm39)		probably benign	Het
Or8k21	T	A	2: 86,144,869 (GRCm39)	T254S	probably benign	Het
Otp	A	T	13: 95,013,917 (GRCm39)	T112S	probably damaging	Het
Pcdh7	A	G	5: 57,877,405 (GRCm39)	N320S	probably damaging	Het
Pdzd2	G	T	15: 12,592,364 (GRCm39)	F93L	probably damaging	Het
Phf20l1	A	G	15: 66,481,453 (GRCm39)	E283G	probably damaging	Het
Polr1e	T	C	4: 45,029,421 (GRCm39)	F342S	probably damaging	Het
Pp2d1	T	A	17: 53,846,196 (GRCm39)		probably benign	Het
Ptpn13	T	A	5: 103,664,291 (GRCm39)		probably null	Het
Reg3g	A	T	6: 78,444,471 (GRCm39)	H107Q	possibly damaging	Het
Rgl1	T	C	1: 152,415,696 (GRCm39)	K408E	probably damaging	Het
Samd4	T	C	14: 47,314,966 (GRCm39)	C309R	probably damaging	Het
Sestd1	C	A	2: 77,061,066 (GRCm39)	W104L	probably benign	Het
Sfmbt1	T	A	14: 30,533,330 (GRCm39)		probably null	Het
Slc22a21	T	A	11: 53,870,446 (GRCm39)	K80*	probably null	Het
Snx20	T	A	8: 89,356,630 (GRCm39)	Q62L	probably benign	Het
Spef1l	T	C	7: 139,557,026 (GRCm39)	M120V	probably benign	Het
Stk40	C	A	4: 126,032,594 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,885,584 (GRCm39)		probably benign	Het
Tcf23	C	T	5: 31,127,654 (GRCm39)	P152L	probably damaging	Het
Tex29	T	C	8: 11,894,138 (GRCm39)		probably benign	Het
Tjp3	A	G	10: 81,116,389 (GRCm39)	V235A	probably damaging	Het
Tns3	A	T	11: 8,443,262 (GRCm39)	I367N	possibly damaging	Het
Ttn	T	A	2: 76,543,255 (GRCm39)	M33244L	probably benign	Het
Ush2a	A	T	1: 188,089,044 (GRCm39)	N333I	probably damaging	Het
Usp34	T	C	11: 23,382,406 (GRCm39)		probably benign	Het
Vmn1r204	A	C	13: 22,740,848 (GRCm39)	S160R	probably benign	Het
Vmn2r75	C	T	7: 85,797,449 (GRCm39)	W788*	probably null	Het
Vwa5b1	T	C	4: 138,363,022 (GRCm39)		probably benign	Het
Zbtb7a	A	G	10: 80,984,163 (GRCm39)	E535G	probably benign	Het
Zfp1004	T	A	2: 150,034,494 (GRCm39)	C303S	probably damaging	Het
Zranb3	T	C	1: 127,964,295 (GRCm39)	D144G	probably benign	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
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'- CAGGTTAGGGGATGGCCTTTCTGTAT -3'
(R):5'- ACGGAGCTAGTCAGCTCTTAGGTG -3'

Sequencing Primer
(F):5'- CAGCAAACTGTTAATGA -3'
(R):5'- CTTTGGACTAGGAATGAGGAATTCAC -3'

Posted On

2013-06-11