Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02550:Acadl'

298057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acadl

Ensembl Gene

ENSMUSG00000026003

Gene Name

acyl-Coenzyme A dehydrogenase, long-chain

Synonyms

C79855, LCAD

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02550

Quality Score

Status

Chromosome

Chromosomal Location

66869998-66902436 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 66884325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027153 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000027153

SMART Domains

Protein: ENSMUSP00000027153
Gene: ENSMUSG00000026003

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

Coding Region Coverage

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	G	A	7: 97,873,185 (GRCm39)	T171I	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Anxa2	A	G	9: 69,374,588 (GRCm39)	S22G	probably benign	Het
Arrb2	T	C	11: 70,327,696 (GRCm39)	I120T	probably damaging	Het
Atp11a	G	T	8: 12,866,997 (GRCm39)	K141N	possibly damaging	Het
Casd1	T	C	6: 4,642,009 (GRCm39)	V762A	probably benign	Het
Ccdc61	A	T	7: 18,627,227 (GRCm39)	S48T	probably benign	Het
Cntn2	T	C	1: 132,456,801 (GRCm39)	M82V	probably null	Het
Cobll1	A	G	2: 64,938,207 (GRCm39)	S359P	probably damaging	Het
Ctnnbl1	C	A	2: 157,726,055 (GRCm39)	D465E	probably benign	Het
Def6	A	T	17: 28,447,235 (GRCm39)	E622V	probably benign	Het
Dmgdh	T	C	13: 93,854,083 (GRCm39)	Y678H	probably damaging	Het
Dock9	A	T	14: 121,935,724 (GRCm39)	M1K	probably null	Het
Esyt1	T	C	10: 128,357,962 (GRCm39)	K216E	probably damaging	Het
Fhod3	A	G	18: 25,156,017 (GRCm39)	D545G	probably benign	Het
Galnt12	A	T	4: 47,104,126 (GRCm39)	D128V	possibly damaging	Het
Gm1110	C	T	9: 26,793,130 (GRCm39)	V549I	probably benign	Het
Gm7361	A	G	5: 26,466,120 (GRCm39)	I161V	possibly damaging	Het
Gsn	T	C	2: 35,172,619 (GRCm39)		probably benign	Het
Gvin3	A	T	7: 106,200,846 (GRCm39)		noncoding transcript	Het
Il16	T	A	7: 83,323,704 (GRCm39)	Q282L	possibly damaging	Het
Il3ra	A	G	14: 14,348,055 (GRCm38)	D67G	probably benign	Het
Insrr	T	C	3: 87,711,805 (GRCm39)	L515P	probably damaging	Het
Jhy	A	G	9: 40,828,466 (GRCm39)	F480S	probably benign	Het
Klc4	C	A	17: 46,947,836 (GRCm39)		probably null	Het
Klhl12	G	T	1: 134,395,443 (GRCm39)	C135F	possibly damaging	Het
Ly6m	T	G	15: 74,752,604 (GRCm39)	H24P	probably damaging	Het
Mboat7	G	T	7: 3,686,905 (GRCm39)		probably null	Het
Myo1f	G	A	17: 33,807,116 (GRCm39)	D522N	probably damaging	Het
Myo1f	A	G	17: 33,799,124 (GRCm39)		probably benign	Het
Nbea	C	A	3: 55,926,835 (GRCm39)	M789I	probably damaging	Het
Ncapd2	T	C	6: 125,154,410 (GRCm39)	D602G	probably benign	Het
Ncaph2	A	T	15: 89,254,064 (GRCm39)	K344*	probably null	Het
Nek2	A	G	1: 191,554,371 (GRCm39)	Y70C	probably damaging	Het
Or2t1	T	C	14: 14,328,423 (GRCm38)	L104P	possibly damaging	Het
Or4k35	T	A	2: 111,100,349 (GRCm39)	D121V	probably damaging	Het
Or4k37	T	C	2: 111,158,845 (GRCm39)	L27P	probably damaging	Het
Or5ak22	G	A	2: 85,230,166 (GRCm39)	A237V	probably damaging	Het
Or7e166	C	A	9: 19,624,343 (GRCm39)	F73L	possibly damaging	Het
Or8g35	T	A	9: 39,381,842 (GRCm39)	Y60F	probably benign	Het
Plcb3	T	A	19: 6,937,544 (GRCm39)	K625*	probably null	Het
Plrg1	T	C	3: 82,968,430 (GRCm39)		probably null	Het
Ptpn12	A	G	5: 21,203,137 (GRCm39)	V547A	probably benign	Het
Ralgapb	A	G	2: 158,290,331 (GRCm39)	D748G	probably damaging	Het
Rcbtb2	A	G	14: 73,399,459 (GRCm39)	E41G	probably damaging	Het
Rela	G	T	19: 5,691,534 (GRCm39)	R236L	possibly damaging	Het
Rps6kc1	A	G	1: 190,604,059 (GRCm39)	S188P	probably damaging	Het
Sipa1l1	A	T	12: 82,487,723 (GRCm39)	K1666*	probably null	Het
Slco1a1	C	T	6: 141,889,191 (GRCm39)	M40I	probably benign	Het
Smarca4	C	A	9: 21,597,418 (GRCm39)	P1391Q	probably benign	Het
Stra6	A	G	9: 58,057,366 (GRCm39)	N392S	possibly damaging	Het
Syt4	A	G	18: 31,577,246 (GRCm39)	I36T	probably damaging	Het
Tgfbr2	A	T	9: 115,939,197 (GRCm39)	M235K	probably benign	Het
Tmem87a	T	A	2: 120,204,966 (GRCm39)		probably null	Het
Tmf1	T	C	6: 97,135,522 (GRCm39)	D918G	probably benign	Het
Tnfaip2	A	G	12: 111,412,535 (GRCm39)	Y312C	probably damaging	Het
Usp47	C	T	7: 111,703,561 (GRCm39)	R1178C	probably damaging	Het
Vmn2r95	T	A	17: 18,671,994 (GRCm39)	I577N	probably damaging	Het
Vps13b	T	C	15: 35,572,242 (GRCm39)	V953A	probably benign	Het
Wasl	A	G	6: 24,633,883 (GRCm39)	F127S	probably damaging	Het
Wdr1	C	T	5: 38,698,206 (GRCm39)	V192I	probably damaging	Het
Wnt9a	C	T	11: 59,221,744 (GRCm39)	T214I	probably damaging	Het
Xpo5	A	G	17: 46,540,255 (GRCm39)	D693G	probably benign	Het
Zan	A	G	5: 137,385,301 (GRCm39)	L5044P	unknown	Het
Zhx3	T	C	2: 160,623,216 (GRCm39)	N317S	probably damaging	Het

Other mutations in Acadl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Acadl	APN	1	66,880,864 (GRCm39)	missense	probably damaging	0.97
IGL01983:Acadl	APN	1	66,880,783 (GRCm39)	nonsense	probably null
IGL02934:Acadl	APN	1	66,876,134 (GRCm39)	missense	probably benign	0.33
IGL03002:Acadl	APN	1	66,876,128 (GRCm39)	missense	probably benign	0.01
B6584:Acadl	UTSW	1	66,887,632 (GRCm39)	splice site	probably benign
PIT4377001:Acadl	UTSW	1	66,877,564 (GRCm39)	missense	probably damaging	1.00
R0426:Acadl	UTSW	1	66,880,805 (GRCm39)	missense	probably damaging	0.99
R0639:Acadl	UTSW	1	66,896,567 (GRCm39)	missense	probably benign
R1264:Acadl	UTSW	1	66,896,712 (GRCm39)	missense	probably benign	0.00
R1589:Acadl	UTSW	1	66,892,382 (GRCm39)	missense	probably benign	0.04
R2066:Acadl	UTSW	1	66,880,905 (GRCm39)	splice site	probably null
R3735:Acadl	UTSW	1	66,892,448 (GRCm39)	missense	probably benign	0.41
R4646:Acadl	UTSW	1	66,870,602 (GRCm39)	missense	probably benign	0.00
R5690:Acadl	UTSW	1	66,892,445 (GRCm39)	missense	probably damaging	1.00
R6185:Acadl	UTSW	1	66,877,522 (GRCm39)	missense	possibly damaging	0.72
R7686:Acadl	UTSW	1	66,887,557 (GRCm39)	critical splice donor site	probably null
R7699:Acadl	UTSW	1	66,877,522 (GRCm39)	missense	possibly damaging	0.72
R7700:Acadl	UTSW	1	66,877,522 (GRCm39)	missense	possibly damaging	0.72
R7858:Acadl	UTSW	1	66,877,483 (GRCm39)	missense	probably benign	0.11
R8052:Acadl	UTSW	1	66,892,337 (GRCm39)	missense	probably benign	0.35
R8389:Acadl	UTSW	1	66,893,906 (GRCm39)	missense	probably damaging	1.00
R9381:Acadl	UTSW	1	66,893,805 (GRCm39)	missense	probably benign
R9457:Acadl	UTSW	1	66,892,400 (GRCm39)	missense	probably benign	0.36

Posted On

2015-04-16