Mutagenetix > Incidental Mutation

Incidental Mutation 'R3735:Acadl'

270028

Institutional Source

Beutler Lab

Gene Symbol

Acadl

Ensembl Gene

ENSMUSG00000026003

Gene Name

acyl-Coenzyme A dehydrogenase, long-chain

Synonyms

LCAD, C79855

MMRRC Submission

040722-MU

Accession Numbers

Genbank: NM_007381.3; Ensembl: ENSMUST00000027153, ENSMUST00000139208

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3735 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66830839-66863277 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66853289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 125 (A125V)

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: A125V

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027153
Gene: ENSMUSG00000026003
AA Change: A125V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158795

Meta Mutation Damage Score

0.7891

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	T	5: 30,482,098	Y123F	probably benign	Het
4921539E11Rik	C	G	4: 103,266,406	E90Q	probably damaging	Het
Acot12	T	A	13: 91,784,346	I487N	probably benign	Het
Acox3	A	G	5: 35,611,153	K686R	probably benign	Het
Adam17	T	C	12: 21,325,412	D802G	probably benign	Het
Aoc3	A	T	11: 101,332,219	D427V	probably damaging	Het
Bivm	C	T	1: 44,126,434	H15Y	probably benign	Het
C8a	T	C	4: 104,817,615	E509G	probably benign	Het
Ccdc158	A	C	5: 92,632,424	L930R	possibly damaging	Het
Cdca7	T	A	2: 72,483,865		probably null	Het
Cep170b	A	T	12: 112,741,004	I395F	probably damaging	Het
Champ1	T	C	8: 13,878,735	S298P	probably damaging	Het
Cyp2j8	T	A	4: 96,444,599	R503S	probably damaging	Het
Dcaf10	C	T	4: 45,348,117	T191I	probably benign	Het
Dido1	A	G	2: 180,684,036		probably benign	Het
Dnah7b	C	T	1: 46,299,875	T3361I	probably benign	Het
Dync1h1	G	A	12: 110,631,675	V1767I	probably benign	Het
Eml5	G	A	12: 98,855,989	T721I	possibly damaging	Het
F8	G	A	X: 75,211,375	P2138S	probably damaging	Het
Fam169b	G	T	7: 68,350,301	R198S	probably damaging	Het
Gm7694	A	G	1: 170,302,761	S23P	probably damaging	Het
Grk3	T	A	5: 112,953,831	T248S	probably benign	Het
Helq	T	G	5: 100,790,188	D464A	possibly damaging	Het
Ido2	C	T	8: 24,535,193	V273M	probably damaging	Het
Il12rb1	T	C	8: 70,817,218	L518P	probably damaging	Het
Kansl1l	A	G	1: 66,801,250	V297A	possibly damaging	Het
Kcnj10	A	G	1: 172,369,966	Y349C	possibly damaging	Het
Krt18	A	G	15: 102,028,501	T75A	probably benign	Het
Lrmp	G	A	6: 145,160,870		probably benign	Het
Lrp4	A	T	2: 91,498,371	I1539F	probably damaging	Het
Map3k6	T	C	4: 133,246,372	V458A	probably benign	Het
Med12l	T	A	3: 59,091,495	H614Q	probably damaging	Het
Med13	A	C	11: 86,279,658	M1850R	probably benign	Het
Mfsd13a	A	G	19: 46,368,328	Y256C	probably damaging	Het
Mogs	C	A	6: 83,116,776	T242K	possibly damaging	Het
Myo9b	T	C	8: 71,348,597	V1133A	probably benign	Het
Myom2	A	T	8: 15,069,676	H144L	probably benign	Het
Ncapg	A	T	5: 45,696,127	Q906L	probably benign	Het
Nkx1-1	C	T	5: 33,433,730	V83I	unknown	Het
Npy4r	T	A	14: 34,147,269	T21S	probably benign	Het
Nup88	A	G	11: 70,956,192	S331P	probably damaging	Het
Olfr1294	T	A	2: 111,537,896	H131L	probably damaging	Het
Olr1	T	A	6: 129,499,875		probably benign	Het
Osmr	A	T	15: 6,822,080	Y656N	probably damaging	Het
Otogl	A	T	10: 107,899,529	Y131*	probably null	Het
Pgr	G	A	9: 8,901,533	G356S	probably damaging	Het
Prdm2	T	C	4: 143,134,359	E787G	probably damaging	Het
Prpf18	A	G	2: 4,643,673	I114T	probably benign	Het
R3hdm2	T	A	10: 127,465,010	I280N	probably benign	Het
Rims4	T	C	2: 163,863,985	D243G	possibly damaging	Het
Rmnd5a	T	C	6: 71,396,862	D316G	possibly damaging	Het
Rpap2	T	C	5: 107,655,151		probably benign	Het
Sdr16c5	G	A	4: 4,005,614	T240I	probably benign	Het
Shroom3	T	C	5: 92,964,444	V1888A	possibly damaging	Het
Slc36a4	T	A	9: 15,738,273	Y466*	probably null	Het
Slco3a1	A	G	7: 74,504,497	I80T	probably damaging	Het
Sptlc2	G	A	12: 87,341,565	A381V	probably benign	Het
Stam	A	T	2: 14,129,012	Q190L	probably damaging	Het
Suclg2	T	A	6: 95,497,696	I363F	probably damaging	Het
Tacstd2	A	G	6: 67,534,859	V283A	probably damaging	Het
Tln1	G	T	4: 43,549,370	A616E	probably damaging	Het
Trdmt1	A	T	2: 13,519,873	F257Y	possibly damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,814,790		probably null	Het
Trps1	A	G	15: 50,846,060	I298T	possibly damaging	Het
Tti2	T	C	8: 31,155,897	L413P	probably damaging	Het
Utrn	A	G	10: 12,478,484	V343A	probably damaging	Het
Vwf	G	T	6: 125,588,613	W288L	probably damaging	Het
Zfp629	T	A	7: 127,612,778		probably benign	Het
Zfp873	G	A	10: 82,061,181	S582N	probably benign	Het
Zfp979	A	G	4: 147,613,482	Y257H	possibly damaging	Het
Zfpm1	G	A	8: 122,323,736	C117Y	possibly 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
R4646:Acadl	UTSW	1	66831443	missense	probably benign	0.00
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'- GAATCCAGAACCAGCTGAGGAC -3'
(R):5'- GCCCTGTTACTGTGTTAGAGCC -3'

Sequencing Primer
(F):5'- GAACCAGCTGAGGACATACC -3'
(R):5'- ACTGTGTTAGAGCCCACAATG -3'

Posted On

2015-03-18