Mutagenetix > Incidental Mutation

Incidental Mutation 'R7138:Acadsb'

553199

Institutional Source

Beutler Lab

Gene Symbol

Acadsb

Ensembl Gene

ENSMUSG00000030861

Gene Name

acyl-Coenzyme A dehydrogenase, short/branched chain

Synonyms

1300003O09Rik

MMRRC Submission

045249-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7138 (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 G at 131042968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 343 (L343R)

Ref Sequence

ENSEMBL: ENSMUSP00000113948 (fasta)

Gene Model

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

AlphaFold

Q9DBL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000015829
AA Change: L343R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015829
Gene: ENSMUSG00000030861
AA Change: L343R

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 damaging
Transcript: ENSMUST00000117518
AA Change: L343R

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

SMART Domains

Protein: ENSMUSP00000113948
Gene: ENSMUSG00000030861
AA Change: L343R

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: 99.7%
20x: 99.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,113 (GRCm39)	C698*	probably null	Het
Acacb	G	A	5: 114,345,387 (GRCm39)	V947M	probably benign	Het
Adgrf2	C	T	17: 43,021,874 (GRCm39)	E317K	probably damaging	Het
Agap2	A	G	10: 126,923,154 (GRCm39)	T663A	unknown	Het
Akap8	A	T	17: 32,535,515 (GRCm39)	F166L	possibly damaging	Het
Ankrd17	A	T	5: 90,390,836 (GRCm39)	M2278K	probably benign	Het
Avl9	T	C	6: 56,705,242 (GRCm39)	S148P	probably damaging	Het
Brf1	T	C	12: 112,933,835 (GRCm39)	E266G	probably damaging	Het
Cabin1	T	C	10: 75,581,187 (GRCm39)	K380E	probably damaging	Het
Catsper2	T	C	2: 121,227,544 (GRCm39)	D542G	possibly damaging	Het
Cbln4	C	A	2: 171,884,095 (GRCm39)	D42Y	probably damaging	Het
Ccn6	T	A	10: 39,034,473 (GRCm39)	Q43L	possibly damaging	Het
Cd5	C	T	19: 10,697,668 (GRCm39)	R437Q	probably damaging	Het
Ceacam18	G	C	7: 43,288,706 (GRCm39)	E152D	possibly damaging	Het
Chd8	A	G	14: 52,451,955 (GRCm39)	S1347P	possibly damaging	Het
Chodl	T	G	16: 78,738,335 (GRCm39)	I101R	probably damaging	Het
Clk4	T	G	11: 51,168,759 (GRCm39)	F377L	probably damaging	Het
Cntnap3	C	T	13: 64,929,539 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,458,780 (GRCm39)	S231G	probably benign	Het
Disp2	T	A	2: 118,617,361 (GRCm39)	H118Q	probably benign	Het
Dnah10	T	C	5: 124,900,009 (GRCm39)	F3869S	probably damaging	Het
Edil3	C	T	13: 89,279,847 (GRCm39)	T175I	probably damaging	Het
Eif1ad18	T	G	12: 88,050,648 (GRCm39)	I61R	probably damaging	Het
Fap	A	G	2: 62,372,522 (GRCm39)	S319P	probably benign	Het
Frmpd2	T	A	14: 33,293,761 (GRCm39)	V1309E	probably benign	Het
Galntl5	T	A	5: 25,394,842 (GRCm39)	S70T	probably benign	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Gna15	G	A	10: 81,343,881 (GRCm39)	T260M	probably damaging	Het
Gucy2c	A	G	6: 136,705,342 (GRCm39)	I531T	probably damaging	Het
Heatr5b	A	G	17: 79,135,417 (GRCm39)	V238A	probably damaging	Het
Htr2a	A	G	14: 74,943,182 (GRCm39)	Y254C	probably damaging	Het
Inpp5b	A	G	4: 124,679,065 (GRCm39)	R491G	probably damaging	Het
Kcnt2	C	T	1: 140,523,778 (GRCm39)	L1093F	possibly damaging	Het
Kcp	C	A	6: 29,491,861 (GRCm39)	E922*	probably null	Het
Lrp2	G	A	2: 69,296,089 (GRCm39)	A3340V	possibly damaging	Het
Lrrn1	T	G	6: 107,545,336 (GRCm39)	V378G	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Net1	G	A	13: 3,938,510 (GRCm39)	R126C	probably damaging	Het
Nipsnap3a	T	C	4: 52,993,978 (GRCm39)	C20R	probably benign	Het
Nxpe2	C	T	9: 48,232,006 (GRCm39)	C317Y	probably damaging	Het
Or10v9	T	A	19: 11,832,652 (GRCm39)	I222F	probably damaging	Het
Or52h1	T	C	7: 103,829,504 (GRCm39)	Y37C	probably damaging	Het
Or8b8	T	C	9: 37,809,360 (GRCm39)	I220T	probably damaging	Het
Or8g54	T	G	9: 39,707,086 (GRCm39)	Y138*	probably null	Het
Orm1	T	A	4: 63,262,949 (GRCm39)	W39R	probably damaging	Het
Pds5b	A	T	5: 150,724,142 (GRCm39)	K1240*	probably null	Het
Pdss1	T	A	2: 22,802,681 (GRCm39)	H173Q	probably damaging	Het
Pebp1	A	G	5: 117,423,882 (GRCm39)	W84R	probably damaging	Het
Pla2g4e	C	T	2: 120,001,759 (GRCm39)	C630Y	probably damaging	Het
Plaat3	T	A	19: 7,556,550 (GRCm39)	V117E	probably damaging	Het
Plekho2	G	T	9: 65,463,635 (GRCm39)	Q405K	probably benign	Het
Plppr2	T	A	9: 21,855,708 (GRCm39)	V227E	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,589 (GRCm39)	D229E	probably benign	Het
Rapgef4	T	C	2: 72,028,707 (GRCm39)	S393P	probably damaging	Het
Rapgefl1	A	G	11: 98,737,900 (GRCm39)		probably null	Het
Ripk3	C	A	14: 56,025,803 (GRCm39)	R19L	probably benign	Het
Rnase10	G	T	14: 51,247,167 (GRCm39)	V182F	probably damaging	Het
Rsf1	T	A	7: 97,319,002 (GRCm39)	S917R		Het
Sephs2	T	C	7: 126,872,187 (GRCm39)	N302S	possibly damaging	Het
Slc13a2	C	T	11: 78,289,950 (GRCm39)	V455M	possibly damaging	Het
Slc30a2	A	T	4: 134,071,429 (GRCm39)	D54V	probably benign	Het
Slco6c1	T	C	1: 97,047,706 (GRCm39)	E199G	possibly damaging	Het
Snx27	A	T	3: 94,436,247 (GRCm39)	M256K	probably benign	Het
Spag4	T	A	2: 155,908,519 (GRCm39)	S150T	probably benign	Het
Spon1	T	A	7: 113,635,945 (GRCm39)	C720S	probably damaging	Het
Tbc1d22a	T	C	15: 86,123,356 (GRCm39)	S166P	probably benign	Het
Tbc1d9	T	C	8: 83,937,113 (GRCm39)	I65T	probably damaging	Het
Tmem176a	T	A	6: 48,820,953 (GRCm39)	V141D	probably damaging	Het
Tmem268	G	A	4: 63,480,687 (GRCm39)		probably benign	Het
Tonsl	A	G	15: 76,518,976 (GRCm39)	V519A	probably benign	Het
Ttn	G	A	2: 76,612,376 (GRCm39)	P17204S	possibly damaging	Het
Wrap53	T	A	11: 69,454,694 (GRCm39)	D225V	probably benign	Het
Zfhx4	G	A	3: 5,477,107 (GRCm39)	A3241T	possibly damaging	Het
Zfp1002	T	C	2: 150,097,372 (GRCm39)	H47R	probably damaging	Het
Znfx1	T	C	2: 166,898,697 (GRCm39)	R76G	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
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
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'- AAAACCTAACCTTTTACGGTGC -3'
(R):5'- CTTGCCCTTCTACTGCAGGAAG -3'

Sequencing Primer
(F):5'- TTCACTTTAGATTGCAGACTTAAGG -3'
(R):5'- CCTTCTACTGCAGGAAGTGGAAAG -3'

Posted On

2019-05-15