Mutagenetix > Incidental Mutation

Incidental Mutation 'R4646:Acadl'

350202

Institutional Source

Beutler Lab

Gene Symbol

Acadl

Ensembl Gene

ENSMUSG00000026003

Gene Name

acyl-Coenzyme A dehydrogenase, long-chain

Synonyms

LCAD, C79855

MMRRC Submission

041907-MU

Accession Numbers

Genbank: NM_007381.3; Ensembl: ENSMUST00000027153, ENSMUST00000139208

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66830839-66863277 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66831443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 428 (S428R)

Ref Sequence

ENSEMBL: ENSMUSP00000027153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027153]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027153
AA Change: S428R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027153
Gene: ENSMUSG00000026003
AA Change: S428R

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:Acyl-CoA_dh_N	54	165	1.3e-33	PFAM
Pfam:Acyl-CoA_dh_M	169	266	9.2e-29	PFAM
Pfam:Acyl-CoA_dh_1	278	427	5.1e-44	PFAM
Pfam:Acyl-CoA_dh_2	293	416	3.4e-11	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum length between C12- and C16-acylCoA. In mice, deficiency of this gene can cause sudden death, cardiomyopathy as well as fasting and cold intolerance. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutation of this gene results in reduced litter size, sudden death between 2-14 weeks of age, reduced serum glucose levels, lipid accumulation in the liver and heart, and cardiomyopathy. Heterozygous mutant animals exhibit reduced litter size. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 102,860,909	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,293,598	Y232F	probably benign	Het
Adamts10	A	G	17: 33,545,555	D683G	probably damaging	Het
Angptl4	G	A	17: 33,781,299	P32S	probably benign	Het
Apob	A	G	12: 8,012,759	N134S	probably benign	Het
Atr	G	A	9: 95,871,197		probably null	Het
B4galnt1	G	A	10: 127,167,836	V223M	probably damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
C1galt1c1	A	T	X: 38,631,472	S216T	probably benign	Het
C2cd3	A	C	7: 100,372,450		probably benign	Het
Clca4b	A	C	3: 144,928,525	H102Q	probably benign	Het
Cntrl	T	C	2: 35,149,461	I557T	probably damaging	Het
Col26a1	G	A	5: 136,847,550	S72F	probably damaging	Het
Crocc2	G	A	1: 93,168,794	V24M	possibly damaging	Het
Csmd1	T	C	8: 15,932,511	I2719V	possibly damaging	Het
Cul9	C	T	17: 46,539,017	W502*	probably null	Het
Dazl	A	T	17: 50,288,155	F84I	probably damaging	Het
Dcaf1	G	T	9: 106,846,807	R478L	probably benign	Het
Dock5	T	G	14: 67,842,779	I198L	probably benign	Het
Dock9	A	T	14: 121,586,246	L1428H	probably damaging	Het
Dync1li1	T	A	9: 114,709,169	V198E	probably damaging	Het
E130309D02Rik	A	T	5: 143,307,985	W246R	probably damaging	Het
Egf	A	T	3: 129,720,276	C429S	probably damaging	Het
Ehmt1	T	C	2: 24,891,684	E7G	probably null	Het
Ercc4	G	T	16: 13,147,574	R690L	probably damaging	Het
Erich5	T	C	15: 34,470,966	C114R	possibly damaging	Het
Etv1	T	C	12: 38,865,686	S428P	possibly damaging	Het
Fam19a5	T	G	15: 87,720,582	S115A	probably damaging	Het
Fbxo31	G	T	8: 121,560,016	F174L	probably benign	Het
Fbxo33	T	A	12: 59,204,431	I433L	probably benign	Het
Fez2	A	T	17: 78,412,928	V99E	probably damaging	Het
Gabarapl2	A	C	8: 111,942,553	K48Q	probably damaging	Het
Gfi1b	T	A	2: 28,610,137	H294L	probably damaging	Het
Gk2	A	G	5: 97,456,197	S261P	probably damaging	Het
Gm7534	G	A	4: 134,202,148	A282V	probably benign	Het
Gpr158	T	C	2: 21,827,053	I988T	probably benign	Het
Grk3	G	C	5: 112,929,720	H394D	probably benign	Het
Grm6	A	G	11: 50,857,206	E381G	probably benign	Het
Gtf3c1	A	T	7: 125,659,094	M1268K	possibly damaging	Het
Hikeshi	A	T	7: 89,923,646	I113N	probably damaging	Het
Hmg20b	T	A	10: 81,348,582	Q129L	probably damaging	Het
Hunk	C	A	16: 90,475,903	T365K	probably damaging	Het
Kdm5a	T	G	6: 120,374,977	V176G	possibly damaging	Het
Kif2a	T	A	13: 106,962,185	E691V	probably damaging	Het
Ly6e	T	C	15: 74,958,661		probably null	Het
Map1b	G	T	13: 99,432,469	P1248Q	unknown	Het
Mettl25	A	G	10: 105,826,555	S185P	probably damaging	Het
Mfap3l	T	A	8: 60,671,150	V142D	probably damaging	Het
Mip	T	A	10: 128,227,053	H122Q	probably benign	Het
Mkx	G	A	18: 6,992,040	T280I	probably benign	Het
Msi1	A	T	5: 115,451,455		probably null	Het
Muc5b	A	G	7: 141,862,640	M3108V	probably benign	Het
Mybl1	A	G	1: 9,672,286	S625P	probably damaging	Het
Myo7b	C	A	18: 31,994,369	V627F	probably benign	Het
Ndst3	A	T	3: 123,672,035	I96N	probably damaging	Het
Nrp1	A	T	8: 128,457,944	T357S	probably benign	Het
Obscn	G	T	11: 59,124,570	Y1050*	probably null	Het
Olfr1212	T	A	2: 88,959,212	F249I	probably damaging	Het
Olfr1386	A	C	11: 49,470,624	I158L	probably benign	Het
Olfr152	T	C	2: 87,783,221	V227A	possibly damaging	Het
Olfr320	A	G	11: 58,684,730	N286D	probably damaging	Het
Olfr710	A	T	7: 106,944,340	N220K	probably benign	Het
Olfr74	A	T	2: 87,973,798	I289K	probably benign	Het
Otof	T	C	5: 30,383,570	E875G	possibly damaging	Het
Pick1	A	T	15: 79,248,937	D399V	probably benign	Het
Pik3c2g	T	A	6: 139,720,018	S22T	probably benign	Het
Pnpla2	A	G	7: 141,458,661	E276G	possibly damaging	Het
Pomk	A	T	8: 25,983,605	S107T	probably damaging	Het
Rbm46	A	T	3: 82,864,458	D283E	probably benign	Het
Rimbp3	A	G	16: 17,213,098	D1462G	probably damaging	Het
Rnf112	T	A	11: 61,452,110	E230V	probably damaging	Het
Rock1	T	C	18: 10,112,391	T455A	probably benign	Het
Rtp4	A	T	16: 23,610,040	M18L	probably benign	Het
Scaf11	A	T	15: 96,420,100		probably null	Het
Schip1	T	C	3: 68,064,964	V8A	probably benign	Het
Sec31b	T	C	19: 44,526,621	H351R	probably benign	Het
Sh3bp5l	A	G	11: 58,346,351	D378G	probably benign	Het
Soga1	T	C	2: 157,020,506	E1501G	probably damaging	Het
Sowahb	T	C	5: 93,042,856	D668G	probably damaging	Het
Spam1	A	G	6: 24,800,587	T442A	probably benign	Het
Syt14	T	A	1: 192,933,325	Y451F	probably damaging	Het
Tdh	A	G	14: 63,493,756	L323P	possibly damaging	Het
Tet2	A	T	3: 133,488,082	M197K	probably benign	Het
Thbs1	G	A	2: 118,118,329	A489T	probably benign	Het
Tnfaip1	C	T	11: 78,529,182	R88Q	probably damaging	Het
Tnn	T	C	1: 160,146,042	M252V	probably benign	Het
Trdn	G	T	10: 33,195,981	E215*	probably null	Het
Trim55	T	C	3: 19,671,122	F268L	probably benign	Het
Trmt112	T	A	19: 6,910,448	V55E	possibly damaging	Het
Tube1	A	G	10: 39,142,367	M147V	possibly damaging	Het
Ubn1	A	G	16: 5,077,987	T966A	probably damaging	Het
Unc80	A	G	1: 66,669,235	I2651V	probably benign	Het
Vmn1r172	G	A	7: 23,660,494	R268H	probably benign	Het
Vmn1r231	T	A	17: 20,890,309	I115F	probably damaging	Het
Vmn1r237	A	G	17: 21,314,138	K41R	probably benign	Het
Vmn2r58	A	T	7: 41,860,511	N547K	probably damaging	Het
Vmn2r74	T	C	7: 85,957,574	D188G	probably benign	Het
Vwa5b2	A	G	16: 20,596,329	K367R	probably damaging	Het
Washc4	T	A	10: 83,574,543	M665K	possibly damaging	Het
Wbp11	T	A	6: 136,821,191	Y236F	probably benign	Het
Wbp4	T	A	14: 79,472,361	I145F	possibly damaging	Het
Wwc2	C	A	8: 47,920,601	D77Y	probably damaging	Het

Other mutations in Acadl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Acadl	APN	1	66841705	missense	probably damaging	0.97
IGL01983:Acadl	APN	1	66841624	nonsense	probably null
IGL02550:Acadl	APN	1	66845166	critical splice donor site	probably null
IGL02934:Acadl	APN	1	66836975	missense	probably benign	0.33
IGL03002:Acadl	APN	1	66836969	missense	probably benign	0.01
B6584:Acadl	UTSW	1	66848473	splice site	probably benign
PIT4377001:Acadl	UTSW	1	66838405	missense	probably damaging	1.00
R0426:Acadl	UTSW	1	66841646	missense	probably damaging	0.99
R0639:Acadl	UTSW	1	66857408	missense	probably benign
R1264:Acadl	UTSW	1	66857553	missense	probably benign	0.00
R1589:Acadl	UTSW	1	66853223	missense	probably benign	0.04
R2066:Acadl	UTSW	1	66841746	splice site	probably null
R3735:Acadl	UTSW	1	66853289	missense	probably benign	0.41
R5690:Acadl	UTSW	1	66853286	missense	probably damaging	1.00
R6185:Acadl	UTSW	1	66838363	missense	possibly damaging	0.72
R7686:Acadl	UTSW	1	66848398	critical splice donor site	probably null
R7699:Acadl	UTSW	1	66838363	missense	possibly damaging	0.72
R7700:Acadl	UTSW	1	66838363	missense	possibly damaging	0.72
R7858:Acadl	UTSW	1	66838324	missense	probably benign	0.11
R8052:Acadl	UTSW	1	66853178	missense	probably benign	0.35
R8389:Acadl	UTSW	1	66854747	missense	probably damaging	1.00
R9381:Acadl	UTSW	1	66854646	missense	probably benign
R9457:Acadl	UTSW	1	66853241	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- GACAAAACTTTAGACTCTTGGGCTC -3'
(R):5'- GGCTCCTATTGCTCAGAGTTCC -3'

Sequencing Primer
(F):5'- GACTCTTGGGCTCAAAAATTTCTC -3'
(R):5'- TGCTCAGAGTTCCTTAACCAATAG -3'

Posted On

2015-10-08