Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02934:Acadl'

364238

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 #

IGL02934

Quality Score

Status

Chromosome

Chromosomal Location

66869998-66902436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66876134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 396 (Y396H)

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: Y396H

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027153
Gene: ENSMUSG00000026003
AA Change: Y396H

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,956,008 (GRCm39)	R716*	probably null	Het
Abca8a	A	T	11: 109,931,414 (GRCm39)	N1246K	probably damaging	Het
Apol7c	A	T	15: 77,410,318 (GRCm39)	S209R	possibly damaging	Het
Atp1a1	A	T	3: 101,484,308 (GRCm39)	C990*	probably null	Het
Cachd1	C	T	4: 100,825,295 (GRCm39)	S583L	probably damaging	Het
Cbfa2t3	T	C	8: 123,374,497 (GRCm39)	T48A	probably benign	Het
Ccdc138	G	T	10: 58,409,402 (GRCm39)		probably benign	Het
Cenpe	A	G	3: 134,970,112 (GRCm39)	E2231G	probably damaging	Het
Cog3	T	C	14: 75,979,129 (GRCm39)	I206V	probably damaging	Het
Cr2	A	G	1: 194,836,633 (GRCm39)		probably benign	Het
Ctdspl2	T	C	2: 121,809,490 (GRCm39)	V147A	probably damaging	Het
Cyp4f13	A	G	17: 33,148,845 (GRCm39)	V300A	probably damaging	Het
Dkk3	A	T	7: 111,749,954 (GRCm39)	M72K	probably damaging	Het
Dock3	A	T	9: 106,900,944 (GRCm39)	F340L	probably benign	Het
Fut1	A	G	7: 45,268,127 (GRCm39)	H27R	possibly damaging	Het
Igkv4-80	A	G	6: 68,993,840 (GRCm39)	V17A	probably benign	Het
Igkv9-123	G	A	6: 67,931,380 (GRCm39)	P62L	possibly damaging	Het
Kmt2e	T	C	5: 23,702,882 (GRCm39)	S1021P	probably damaging	Het
Krt13	A	C	11: 100,009,910 (GRCm39)	L320R	probably damaging	Het
Ldhal6b	T	C	17: 5,467,819 (GRCm39)	T372A	probably benign	Het
Manba	T	C	3: 135,250,510 (GRCm39)	V379A	probably benign	Het
Map1b	C	T	13: 99,571,639 (GRCm39)	V361I	probably benign	Het
Map4k1	A	G	7: 28,693,531 (GRCm39)	S399G	probably benign	Het
Mff	G	A	1: 82,724,815 (GRCm39)	R229H	probably damaging	Het
Naga	T	C	15: 82,214,401 (GRCm39)	N370S	possibly damaging	Het
Ncor2	A	T	5: 125,102,621 (GRCm39)	M2045K	probably benign	Het
Nipal1	T	C	5: 72,805,250 (GRCm39)	L7P	probably damaging	Het
Or10p22	T	A	10: 128,825,958 (GRCm39)	M59K	probably damaging	Het
Pcmt1	A	T	10: 7,516,491 (GRCm39)	M187K	probably benign	Het
Perp	A	T	10: 18,731,520 (GRCm39)	T160S	probably damaging	Het
Rapgef6	G	A	11: 54,516,690 (GRCm39)	D169N	probably damaging	Het
Sel1l	G	A	12: 91,776,710 (GRCm39)	Q711*	probably null	Het
Septin5	T	C	16: 18,448,581 (GRCm39)	Y7C	probably damaging	Het
Spdya	A	T	17: 71,863,395 (GRCm39)	N48I	probably benign	Het
Stard6	T	A	18: 70,629,175 (GRCm39)		probably benign	Het
Sytl2	T	C	7: 90,025,200 (GRCm39)	V396A	probably benign	Het
Tcaf3	T	G	6: 42,570,832 (GRCm39)	M307L	probably benign	Het
Tdrd6	T	C	17: 43,938,778 (GRCm39)	N757D	probably benign	Het
Tgm1	T	A	14: 55,947,446 (GRCm39)	D305V	probably damaging	Het
Themis2	T	A	4: 132,516,862 (GRCm39)	M213L	probably damaging	Het
Tmem184c	A	G	8: 78,324,449 (GRCm39)	V347A	probably damaging	Het
Tmem214	A	G	5: 31,028,888 (GRCm39)	E159G	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,031,215 (GRCm39)	S1064R	probably damaging	Het
Ubr2	C	T	17: 47,268,266 (GRCm39)	E983K	possibly damaging	Het
Vmn1r23	A	T	6: 57,902,914 (GRCm39)	I288N	probably benign	Het
Vmn2r97	T	C	17: 19,149,947 (GRCm39)	V445A	probably benign	Het
Whrn	G	A	4: 63,334,342 (GRCm39)	T813M	probably damaging	Het
Xirp2	C	T	2: 67,346,020 (GRCm39)	H2754Y	probably benign	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
IGL02550:Acadl	APN	1	66,884,325 (GRCm39)	critical splice donor site	probably null
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

2015-12-18