Mutagenetix > Incidental Mutation

Incidental Mutation 'R7009:Acadvl'

544918

Institutional Source

Beutler Lab

Gene Symbol

Acadvl

Ensembl Gene

ENSMUSG00000018574

Gene Name

acyl-Coenzyme A dehydrogenase, very long chain

Synonyms

VLCAD

MMRRC Submission

045111-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.532) question?

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69901009-69906237 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 69905617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099634 (fasta)

Gene Model

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

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

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

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

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

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

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

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	G	T	13: 59,838,624 (GRCm39)	D69E	possibly damaging	Het
Abat	A	C	16: 8,420,231 (GRCm39)	M177L	probably benign	Het
Adam5	T	C	8: 25,296,454 (GRCm39)	N331S	probably benign	Het
Ager	A	G	17: 34,819,710 (GRCm39)	E372G	probably damaging	Het
Angpt1	T	A	15: 42,386,991 (GRCm39)	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,154,178 (GRCm39)	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,157,272 (GRCm39)	I90F	probably damaging	Het
Arhgap5	A	T	12: 52,566,422 (GRCm39)	Q1131L	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,691,322 (GRCm39)	M1K	probably null	Het
Ccdc18	G	A	5: 108,321,728 (GRCm39)		probably null	Het
Ccdc42	T	C	11: 68,485,442 (GRCm39)	F267S	probably damaging	Het
Cdh23	T	A	10: 60,173,085 (GRCm39)	Y1700F	probably damaging	Het
Cenpe	A	T	3: 134,940,962 (GRCm39)	S704C	probably damaging	Het
Cenpe	G	A	3: 134,940,963 (GRCm39)	S704N	probably benign	Het
Cfap299	A	T	5: 98,932,379 (GRCm39)	D193V	probably damaging	Het
Cfap54	A	T	10: 92,710,881 (GRCm39)	S2727T	unknown	Het
Clu	T	A	14: 66,209,281 (GRCm39)	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,161,954 (GRCm39)	I98V	probably benign	Het
Copa	G	T	1: 171,918,567 (GRCm39)	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,376,603 (GRCm39)		probably null	Het
Etnk1	T	A	6: 143,148,880 (GRCm39)		probably null	Het
Fnip1	A	T	11: 54,393,761 (GRCm39)	K732N	probably damaging	Het
G6pd2	A	G	5: 61,966,234 (GRCm39)	E3G	probably benign	Het
Gal3st2	A	G	1: 93,801,481 (GRCm39)	T95A	probably benign	Het
Gapvd1	A	G	2: 34,590,829 (GRCm39)	S948P	probably damaging	Het
Ggps1	A	T	13: 14,228,750 (GRCm39)	Y8*	probably null	Het
Gria2	T	C	3: 80,614,279 (GRCm39)	E587G	probably damaging	Het
Hpse	T	C	5: 100,840,145 (GRCm39)	E324G	probably benign	Het
Il16	G	A	7: 83,295,596 (GRCm39)	T493I	probably benign	Het
Ints1	T	C	5: 139,754,217 (GRCm39)	T652A	possibly damaging	Het
Ism1	A	G	2: 139,599,199 (GRCm39)	I391V	probably damaging	Het
Katnb1	A	G	8: 95,825,012 (GRCm39)	D598G	probably damaging	Het
Kif5c	A	G	2: 49,647,441 (GRCm39)	S880G	probably benign	Het
Klra8	T	C	6: 130,102,147 (GRCm39)	N96S	probably benign	Het
Krt79	T	A	15: 101,839,876 (GRCm39)	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,257,374 (GRCm39)	R92Q	probably benign	Het
Lce1d	C	A	3: 92,593,353 (GRCm39)	C20F	unknown	Het
Limk1	T	C	5: 134,701,553 (GRCm39)	T117A	probably benign	Het
Medag	A	T	5: 149,350,708 (GRCm39)	K61M	probably benign	Het
Mkrn3	T	C	7: 62,069,366 (GRCm39)	M142V	probably benign	Het
Mob3c	G	A	4: 115,688,779 (GRCm39)	R104H	probably benign	Het
Morc1	G	T	16: 48,447,433 (GRCm39)	R903L	possibly damaging	Het
Myh6	T	C	14: 55,189,749 (GRCm39)	E1099G	probably damaging	Het
Nphp3	T	G	9: 103,893,315 (GRCm39)	C434G	probably null	Het
Npr3	C	T	15: 11,905,334 (GRCm39)	C131Y	probably damaging	Het
Oacyl	C	A	18: 65,855,609 (GRCm39)	Y112*	probably null	Het
Oprl1	A	G	2: 181,360,174 (GRCm39)	T77A	probably damaging	Het
Osgep	A	G	14: 51,162,165 (GRCm39)	V24A	probably damaging	Het
Otx2	T	A	14: 48,896,254 (GRCm39)	K260M	probably damaging	Het
Pdcd11	T	C	19: 47,101,581 (GRCm39)	L922P	probably benign	Het
Pgap4	A	T	4: 49,586,325 (GRCm39)	M281K	probably benign	Het
Phldb1	A	G	9: 44,605,705 (GRCm39)	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,337,299 (GRCm39)		probably null	Het
Psmd3	G	A	11: 98,573,592 (GRCm39)	D13N	probably benign	Het
Ptprc	G	A	1: 137,992,291 (GRCm39)	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,063,064 (GRCm39)	H291L	probably damaging	Het
Rasa4	T	A	5: 136,130,217 (GRCm39)	D324E	probably damaging	Het
Rilpl1	T	A	5: 124,641,755 (GRCm39)		silent	Het
Rin2	A	C	2: 145,725,395 (GRCm39)	D794A	probably damaging	Het
Ripk1	A	G	13: 34,214,045 (GRCm39)	I522M	probably damaging	Het
Rnf31	T	C	14: 55,830,008 (GRCm39)	Y143H	probably benign	Het
Rp1	T	G	1: 4,112,291 (GRCm39)	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,585,796 (GRCm39)	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,109,541 (GRCm39)	V455A	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	T	G	9: 119,314,996 (GRCm39)	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,326,014 (GRCm39)	S240*	probably null	Het
Slc22a8	C	T	19: 8,582,781 (GRCm39)	T154I	probably benign	Het
Slc25a16	T	A	10: 62,773,233 (GRCm39)	V156E	possibly damaging	Het
Slc28a3	A	T	13: 58,758,618 (GRCm39)	S2T	probably benign	Het
Srd5a3	G	A	5: 76,297,713 (GRCm39)	V48I	probably benign	Het
Srebf1	A	C	11: 60,091,352 (GRCm39)	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,527,672 (GRCm39)	K1310E	probably benign	Het
Swt1	A	G	1: 151,246,381 (GRCm39)	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,731,525 (GRCm39)	T434S	possibly damaging	Het
Tcf20	G	A	15: 82,738,883 (GRCm39)	T856I	probably benign	Het
Tcf7l2	T	C	19: 55,883,165 (GRCm39)		probably null	Het
Trim45	A	G	3: 100,839,195 (GRCm39)		probably benign	Het
Tsen2	T	A	6: 115,524,933 (GRCm39)	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,787,139 (GRCm39)	C715*	probably null	Het
Vmn2r102	G	A	17: 19,914,456 (GRCm39)	V674I	probably damaging	Het
Zfp87	A	G	13: 67,665,173 (GRCm39)	S430P	probably damaging	Het

Other mutations in Acadvl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03391:Acadvl	APN	11	69,901,542 (GRCm39)	missense	probably damaging	0.99
IGL03396:Acadvl	APN	11	69,902,239 (GRCm39)	nonsense	probably null
R1122:Acadvl	UTSW	11	69,902,203 (GRCm39)	missense	probably damaging	1.00
R1271:Acadvl	UTSW	11	69,905,526 (GRCm39)	missense	probably damaging	1.00
R1435:Acadvl	UTSW	11	69,905,642 (GRCm39)	missense	probably benign	0.00
R1519:Acadvl	UTSW	11	69,905,617 (GRCm39)	critical splice donor site	probably null
R1710:Acadvl	UTSW	11	69,901,181 (GRCm39)	missense	probably damaging	1.00
R1853:Acadvl	UTSW	11	69,901,696 (GRCm39)	missense	probably damaging	1.00
R4747:Acadvl	UTSW	11	69,903,334 (GRCm39)	missense	probably damaging	1.00
R4822:Acadvl	UTSW	11	69,902,010 (GRCm39)	missense	probably benign	0.01
R5700:Acadvl	UTSW	11	69,904,029 (GRCm39)	missense	probably damaging	0.99
R6312:Acadvl	UTSW	11	69,902,593 (GRCm39)	missense	probably damaging	0.99
R6482:Acadvl	UTSW	11	69,902,388 (GRCm39)	missense	probably benign	0.00
R6489:Acadvl	UTSW	11	69,901,145 (GRCm39)	missense	probably benign	0.00
R6904:Acadvl	UTSW	11	69,905,159 (GRCm39)	missense	probably benign	0.31
R7623:Acadvl	UTSW	11	69,901,569 (GRCm39)	missense	probably damaging	1.00
R8103:Acadvl	UTSW	11	69,905,168 (GRCm39)	missense	probably benign	0.00
R8439:Acadvl	UTSW	11	69,902,554 (GRCm39)	nonsense	probably null
R8556:Acadvl	UTSW	11	69,904,376 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTAAGCCTTTACTTACCAGATGGG -3'
(R):5'- TGGCAGTTCTGTCACTGAAAG -3'

Sequencing Primer
(F):5'- ATTCCTAGGCAAGGAAGG -3'
(R):5'- CAGTTCTGTCACTGAAAGTAGGG -3'

Posted On

2019-05-13