Mutagenetix > Incidental Mutation

Incidental Mutation 'R1519:Acadvl'

167308

Institutional Source

Beutler Lab

Gene Symbol

Acadvl

Ensembl Gene

ENSMUSG00000018574

Gene Name

acyl-Coenzyme A dehydrogenase, very long chain

Synonyms

VLCAD

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.437) question?

Stock #

R1519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70010183-70015411 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 70014791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018718] [ENSMUST00000019362] [ENSMUST00000102574] [ENSMUST00000102575] [ENSMUST00000108588] [ENSMUST00000108589] [ENSMUST00000123687] [ENSMUST00000133140] [ENSMUST00000231221] [ENSMUST00000231415] [ENSMUST00000232002] [ENSMUST00000134376] [ENSMUST00000231506] [ENSMUST00000190940]

AlphaFold

P50544

Predicted Effect

probably benign
Transcript: ENSMUST00000018718

SMART Domains

Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	74	188	4.4e-22	PFAM
Pfam:Acyl-CoA_dh_M	192	245	5.1e-20	PFAM
Pfam:Acyl-CoA_dh_1	306	455	6.7e-41	PFAM
Pfam:Acyl-CoA_dh_2	321	445	2.8e-12	PFAM
Blast:HisKA	460	557	6e-10	BLAST
low complexity region	558	569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019362

SMART Domains

Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
Pfam:Dishevelled	103	263	1.5e-60	PFAM
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.1e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083600

Predicted Effect

probably null
Transcript: ENSMUST00000102574

SMART Domains

Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	96	210	2.5e-25	PFAM
Pfam:Acyl-CoA_dh_M	214	316	5.5e-25	PFAM
Pfam:Acyl-CoA_dh_1	328	477	2.5e-41	PFAM
Pfam:Acyl-CoA_dh_2	343	467	8.7e-14	PFAM
Blast:HisKA	482	579	7e-10	BLAST
low complexity region	580	591	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102575

SMART Domains

Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
low complexity region	112	122	N/A	INTRINSIC
Pfam:Dishevelled	160	232	8.1e-27	PFAM
low complexity region	250	262	N/A	INTRINSIC
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.3e-79	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108586

Predicted Effect

probably benign
Transcript: ENSMUST00000108588

SMART Domains

Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
MAGUK_N_PEST	10	61	1e-7	SMART
PDZ	70	149	3.38e-21	SMART
PDZ	165	244	1.12e-21	SMART
PDZ	318	391	4.13e-25	SMART
SH3	428	494	1.68e-9	SMART
GuKc	530	709	3.65e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108589

SMART Domains

Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
MAGUK_N_PEST	53	107	1.36e-4	SMART
PDZ	116	195	3.38e-21	SMART
PDZ	211	290	1.12e-21	SMART
PDZ	364	437	4.13e-25	SMART
SH3	474	540	1.68e-9	SMART
GuKc	576	755	3.65e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123687

SMART Domains

Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
SH3	11	77	1.68e-9	SMART
GuKc	113	205	7.37e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133140

SMART Domains

Protein: ENSMUSP00000126707
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
PDZ	13	92	3.38e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146129

Predicted Effect

probably benign
Transcript: ENSMUST00000231221

Predicted Effect

probably benign
Transcript: ENSMUST00000231415

Predicted Effect

probably benign
Transcript: ENSMUST00000232002

Predicted Effect

probably benign
Transcript: ENSMUST00000134376

SMART Domains

Protein: ENSMUSP00000115206
Gene: ENSMUSG00000020886

Domain	Start	End	E-Value	Type
MAGUK_N_PEST	10	97	3.39e-37	SMART
PDZ	106	165	1.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000231506

Predicted Effect

probably benign
Transcript: ENSMUST00000190940

SMART Domains

Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
low complexity region	112	122	N/A	INTRINSIC
Pfam:Dishevelled	160	232	8.1e-27	PFAM
low complexity region	250	262	N/A	INTRINSIC
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.3e-79	PFAM

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a homodimeric 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 C16- and C20-acylCoA and localizes to the inner mitochondrial membrane (unlike related acyl-CoA dehydrogenases). In mice, deficiency of this gene can cause ventricular arrhythmias as well as fasting and cold intolerance. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutant animals exhibit mild steatosis, lipid accumulation in myocytes, increased fatigue, impaired temperature regulation, increased susceptibility to arrhythmia, accumulation of long-chain acylcarnitines, and lower free carnitine levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
9230019H11Rik	A	G	10: 3,125,230		noncoding transcript	Het
9530077C05Rik	T	G	9: 22,430,375	L114R	probably benign	Het
Abhd5	T	C	9: 122,379,014		probably null	Het
Actn1	T	C	12: 80,205,078	E75G	probably damaging	Het
Adam4	A	T	12: 81,420,877	N323K	possibly damaging	Het
Anks6	G	A	4: 47,027,152	R689W	probably damaging	Het
Anxa2	T	C	9: 69,485,241	I124T	probably damaging	Het
Aph1c	T	C	9: 66,833,265	T10A	probably benign	Het
Arhgap40	T	A	2: 158,546,801	W552R	probably benign	Het
Baz2b	C	T	2: 59,948,254	R754H	possibly damaging	Het
Blmh	A	G	11: 76,966,781	Y147C	probably damaging	Het
C1galt1	C	T	6: 7,866,402	L83F	probably damaging	Het
Cd163l1	G	A	7: 140,228,156	V747I	probably benign	Het
Cdh23	A	T	10: 60,379,343	Y1403N	possibly damaging	Het
Cic	A	T	7: 25,293,810		probably null	Het
Coro1b	T	A	19: 4,150,584	V200D	possibly damaging	Het
Csl	T	A	10: 99,757,955	E416V	probably damaging	Het
Cyp3a25	A	G	5: 146,001,447		probably null	Het
Dennd2d	T	A	3: 106,492,559	F266Y	probably damaging	Het
Dnah10	A	G	5: 124,760,952	E1072G	probably damaging	Het
Dnah6	T	A	6: 73,049,048	K3435N	probably damaging	Het
Dnah9	G	A	11: 65,881,761	A3715V	probably damaging	Het
Fam186a	G	A	15: 99,947,655	S236L	unknown	Het
Fam198b	A	G	3: 79,941,464	N506D	possibly damaging	Het
Frs3	A	G	17: 47,702,978	T199A	probably benign	Het
Fsd1	A	G	17: 55,993,870	N243S	probably benign	Het
Gabra5	A	C	7: 57,408,893	L369R	probably benign	Het
Gins4	A	G	8: 23,234,776	V54A	probably benign	Het
Gli1	T	C	10: 127,334,269	E339G	possibly damaging	Het
Gm12185	A	G	11: 48,907,767	V633A	probably damaging	Het
Gm8251	A	G	1: 44,056,970	V1656A	probably benign	Het
Gm8765	G	A	13: 50,700,407		probably null	Het
Gpr83	T	A	9: 14,868,197	C182S	probably null	Het
Gspt1	A	G	16: 11,220,855	V627A	probably damaging	Het
Heatr1	T	C	13: 12,412,159	C722R	probably benign	Het
Jak1	C	T	4: 101,162,922	R680Q	probably damaging	Het
Kif2c	A	G	4: 117,169,940	V287A	probably damaging	Het
Kmo	A	G	1: 175,656,802	E366G	probably damaging	Het
Kmo	C	T	1: 175,651,618	P240L	possibly damaging	Het
Lepr	A	T	4: 101,789,344	N824I	probably damaging	Het
Lyrm7	T	A	11: 54,848,599	H75L	possibly damaging	Het
Map4k1	A	T	7: 28,991,036	Q351L	probably benign	Het
Mgam	T	C	6: 40,661,683	I450T	probably benign	Het
Nbeal2	A	G	9: 110,636,305	L955P	probably damaging	Het
Nlrp9c	T	C	7: 26,378,101	K752R	possibly damaging	Het
Nsmaf	A	T	4: 6,438,062	I70K	probably benign	Het
Olfr201	C	T	16: 59,268,944	C241Y	probably damaging	Het
Olfr298	A	G	7: 86,489,125	M142T	probably damaging	Het
Otud7a	A	G	7: 63,758,643	Y898C	probably damaging	Het
Pcdhb18	A	C	18: 37,490,892	D425A	probably damaging	Het
Prdm1	A	T	10: 44,439,986	L733*	probably null	Het
Prdm2	A	T	4: 143,135,583	I379N	probably damaging	Het
Ptprg	A	T	14: 12,220,596	Y436F	probably damaging	Het
Riok3	A	G	18: 12,137,306	D167G	probably damaging	Het
Rnf215	G	T	11: 4,135,451	R60L	probably damaging	Het
Sdk1	A	T	5: 141,999,950	H779L	probably benign	Het
Serpine2	A	G	1: 79,795,031	F390L	probably damaging	Het
Sh3d21	T	A	4: 126,151,726	K387*	probably null	Het
Slc13a2	T	C	11: 78,397,746	Y568C	possibly damaging	Het
Slc27a5	T	C	7: 12,988,459		probably null	Het
Slc32a1	T	C	2: 158,614,577	L384P	probably damaging	Het
Sorcs1	T	C	19: 50,252,587	N454D	probably benign	Het
Spag8	T	C	4: 43,652,777	Y228C	possibly damaging	Het
Spc25	T	C	2: 69,200,087	I71V	probably damaging	Het
Tcte1	T	A	17: 45,535,252	F261I	probably damaging	Het
Thsd7a	T	A	6: 12,471,175	K481N	probably benign	Het
Tll2	G	T	19: 41,086,400	N908K	probably benign	Het
Tmem236	T	C	2: 14,192,280	V93A	probably benign	Het
Top2b	G	A	14: 16,408,953		probably null	Het
Topaz1	G	A	9: 122,767,011	S949N	probably benign	Het
Triobp	A	G	15: 78,973,738	T1180A	probably benign	Het
Trip11	A	C	12: 101,886,160	D548E	probably benign	Het
Trpv2	T	A	11: 62,589,826		probably null	Het
Vmn1r12	T	A	6: 57,159,555	H212Q	probably damaging	Het
Vmn2r112	A	G	17: 22,618,903	T782A	possibly damaging	Het
Vmn2r7	A	G	3: 64,716,455	V239A	possibly damaging	Het
Vmn2r80	T	A	10: 79,194,219	N626K	probably damaging	Het
Vmn2r99	A	G	17: 19,380,060	S449G	probably benign	Het
Wfikkn2	T	C	11: 94,238,107	T403A	probably benign	Het
Xirp2	A	G	2: 67,515,679	I2755V	probably benign	Het
Yjefn3	A	G	8: 69,889,079	V153A	probably benign	Het
Zfp677	C	A	17: 21,397,237	H185Q	possibly damaging	Het
Zfp947	C	T	17: 22,146,292	V134I	probably benign	Het

Other mutations in Acadvl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03391:Acadvl	APN	11	70010716	missense	probably damaging	0.99
IGL03396:Acadvl	APN	11	70011413	nonsense	probably null
R1122:Acadvl	UTSW	11	70011377	missense	probably damaging	1.00
R1271:Acadvl	UTSW	11	70014700	missense	probably damaging	1.00
R1435:Acadvl	UTSW	11	70014816	missense	probably benign	0.00
R1710:Acadvl	UTSW	11	70010355	missense	probably damaging	1.00
R1853:Acadvl	UTSW	11	70010870	missense	probably damaging	1.00
R4747:Acadvl	UTSW	11	70012508	missense	probably damaging	1.00
R4822:Acadvl	UTSW	11	70011184	missense	probably benign	0.01
R5700:Acadvl	UTSW	11	70013203	missense	probably damaging	0.99
R6312:Acadvl	UTSW	11	70011767	missense	probably damaging	0.99
R6482:Acadvl	UTSW	11	70011562	missense	probably benign	0.00
R6489:Acadvl	UTSW	11	70010319	missense	probably benign	0.00
R6904:Acadvl	UTSW	11	70014333	missense	probably benign	0.31
R7009:Acadvl	UTSW	11	70014791	critical splice donor site	probably null
R7623:Acadvl	UTSW	11	70010743	missense	probably damaging	1.00
R8103:Acadvl	UTSW	11	70014342	missense	probably benign	0.00
R8439:Acadvl	UTSW	11	70011728	nonsense	probably null
R8556:Acadvl	UTSW	11	70013550	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACCAGCTCTTTGAGAAATTGTGCC -3'
(R):5'- AGAAATGCGAGTTGCCAGTTCCC -3'

Sequencing Primer
(F):5'- CTTCACTGAGCACTGTATAATGGG -3'
(R):5'- GCAGTTCTGTCACTGAAAGTAG -3'

Posted On

2014-04-13