Mutagenetix > Incidental Mutation

Incidental Mutation 'R8103:Acadvl'

630595

Institutional Source

Beutler Lab

Gene Symbol

Acadvl

Ensembl Gene

ENSMUSG00000018574

Gene Name

acyl-Coenzyme A dehydrogenase, very long chain

Synonyms

VLCAD

MMRRC Submission

067534-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

R8103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69901009-69906237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69905168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 128 (K128R)

Ref Sequence

ENSEMBL: ENSMUSP00000099634 (fasta)

Gene Model

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

AlphaFold

P50544

Predicted Effect

probably benign
Transcript: ENSMUST00000018718
AA Change: K106R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574
AA Change: K106R

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

probably benign
Transcript: ENSMUST00000102574
AA Change: K128R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574
AA Change: K128R

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

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

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: 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: ENSMUST00000231221

Predicted Effect

probably benign
Transcript: ENSMUST00000231415

Predicted Effect

probably benign
Transcript: ENSMUST00000231506

Predicted Effect

probably benign
Transcript: ENSMUST00000232002

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.4%

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,668 (GRCm39)	D216G	probably benign	Het
Abcg5	A	T	17: 84,965,956 (GRCm39)	I640K	possibly damaging	Het
Angptl7	T	A	4: 148,581,018 (GRCm39)	N259I	probably damaging	Het
Ankrd35	A	G	3: 96,586,997 (GRCm39)	K104R	possibly damaging	Het
Antxr1	T	C	6: 87,165,198 (GRCm39)	N413S	probably damaging	Het
Arhgap26	A	G	18: 39,504,177 (GRCm39)	T376A		Het
Atf6b	T	G	17: 34,872,949 (GRCm39)	S622A	probably damaging	Het
Atp5pd	T	A	11: 115,306,851 (GRCm39)	Y115F	possibly damaging	Het
Axin2	T	C	11: 108,822,369 (GRCm39)	L307P	probably damaging	Het
B4galnt4	C	T	7: 140,644,564 (GRCm39)	T153M	possibly damaging	Het
Brd8	A	G	18: 34,740,231 (GRCm39)	V604A	probably benign	Het
Ccser2	T	C	14: 36,618,240 (GRCm39)	Y765C	probably damaging	Het
Cdh26	A	G	2: 178,110,006 (GRCm39)	D433G	probably damaging	Het
Cep85l	T	G	10: 53,175,420 (GRCm39)		probably null	Het
Ciao3	A	G	17: 25,996,395 (GRCm39)	T135A	probably benign	Het
Col23a1	T	A	11: 51,461,014 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,804,452 (GRCm39)	D2261G	unknown	Het
Comp	C	A	8: 70,833,936 (GRCm39)	N650K	probably damaging	Het
Copb1	A	G	7: 113,834,202 (GRCm39)	M476T	possibly damaging	Het
Dapk1	T	A	13: 60,897,009 (GRCm39)	S743T	probably damaging	Het
Ddx39a	A	G	8: 84,451,105 (GRCm39)		probably null	Het
Dgkb	A	G	12: 38,186,580 (GRCm39)	H243R	probably damaging	Het
Dsg1c	T	G	18: 20,416,171 (GRCm39)	Y691D	probably damaging	Het
Duox2	C	T	2: 122,117,535 (GRCm39)	S933N	probably benign	Het
Ece1	T	C	4: 137,641,133 (GRCm39)	S19P	probably benign	Het
Edem1	G	A	6: 108,829,524 (GRCm39)	E548K	probably damaging	Het
Eif4a3l2	C	T	6: 116,528,468 (GRCm39)	T115I	probably damaging	Het
Fpr-rs6	A	G	17: 20,402,839 (GRCm39)	V174A	possibly damaging	Het
Fyco1	A	T	9: 123,658,453 (GRCm39)	N574K	probably benign	Het
Glb1l2	T	A	9: 26,676,980 (GRCm39)	M551L	probably benign	Het
Gm7694	G	T	1: 170,130,284 (GRCm39)	P38Q	probably damaging	Het
Grip1	A	G	10: 119,814,440 (GRCm39)	T324A	probably benign	Het
Htr3b	A	G	9: 48,857,849 (GRCm39)	V131A	possibly damaging	Het
Igfbp1	T	C	11: 7,148,106 (GRCm39)	C50R	probably damaging	Het
Il5ra	A	G	6: 106,692,611 (GRCm39)	I378T	possibly damaging	Het
Ints11	T	C	4: 155,972,687 (GRCm39)	L504P	possibly damaging	Het
Iqca1	A	T	1: 89,987,330 (GRCm39)	I74N		Het
Kbtbd12	C	T	6: 88,595,663 (GRCm39)	A56T	probably damaging	Het
Kcnq5	T	C	1: 21,549,620 (GRCm39)	N369S	possibly damaging	Het
Kmt5b	A	G	19: 3,865,381 (GRCm39)	D815G	probably benign	Het
Lnpk	T	C	2: 74,352,599 (GRCm39)	Q361R	probably benign	Het
Mep1b	T	C	18: 21,222,442 (GRCm39)	I277T	possibly damaging	Het
Naip6	G	A	13: 100,437,851 (GRCm39)	T385I	probably benign	Het
Npepl1	A	T	2: 173,953,002 (GRCm39)	I95F	probably benign	Het
Nxpe4	T	C	9: 48,304,020 (GRCm39)	F36L	probably benign	Het
Optn	C	A	2: 5,045,013 (GRCm39)	C243F	probably damaging	Het
Or10al7	A	T	17: 38,365,903 (GRCm39)	C185S	probably damaging	Het
Or1e33	C	T	11: 73,738,735 (GRCm39)	C72Y	probably damaging	Het
Paqr7	T	C	4: 134,234,821 (GRCm39)	V226A	probably benign	Het
Pcdh12	T	A	18: 38,415,212 (GRCm39)	I638F	probably damaging	Het
Pfas	T	C	11: 68,883,119 (GRCm39)	T722A	probably damaging	Het
Pkhd1	T	A	1: 20,270,981 (GRCm39)	I3191F	probably damaging	Het
Plxnc1	T	A	10: 94,706,944 (GRCm39)	H531L	probably benign	Het
Pom121l2	A	G	13: 22,166,544 (GRCm39)	T272A	probably benign	Het
Pparg	T	C	6: 115,450,102 (GRCm39)	V367A	possibly damaging	Het
Psen2	A	T	1: 180,068,356 (GRCm39)	M99K	probably damaging	Het
Ranbp10	T	C	8: 106,499,179 (GRCm39)	T536A	probably benign	Het
Rbfox2	G	T	15: 76,983,654 (GRCm39)	P284T	probably damaging	Het
Rbmyf9	C	T	Y: 3,776,675 (GRCm39)	T104I	possibly damaging	Het
Rere	G	A	4: 150,701,796 (GRCm39)	R25H	probably damaging	Het
Rhpn1	T	A	15: 75,581,115 (GRCm39)	L119Q	probably null	Het
Rlig1	C	A	10: 100,413,110 (GRCm39)	V178F	probably benign	Het
Rreb1	A	G	13: 38,125,677 (GRCm39)	T1328A	probably benign	Het
Septin11	A	T	5: 93,309,007 (GRCm39)		probably null	Het
Skida1	T	A	2: 18,052,549 (GRCm39)	Q201L	probably benign	Het
Sptan1	T	A	2: 29,910,055 (GRCm39)	I1805N	probably damaging	Het
Stard13	T	A	5: 150,970,435 (GRCm39)	Q853L	possibly damaging	Het
Susd1	T	A	4: 59,365,916 (GRCm39)		probably null	Het
Szt2	T	A	4: 118,245,061 (GRCm39)	Q1158H	possibly damaging	Het
Tbcc	A	C	17: 47,202,046 (GRCm39)	D144A	probably benign	Het
Tsn	A	G	1: 118,232,437 (GRCm39)	I146T	probably benign	Het
Umad1	A	T	6: 8,427,121 (GRCm39)	T99S	probably damaging	Het
Vcan	T	A	13: 89,805,777 (GRCm39)	E3261V	probably damaging	Het
Vcan	C	A	13: 89,851,439 (GRCm39)	E1174*	probably null	Het
Vmn2r100	C	A	17: 19,751,415 (GRCm39)		probably null	Het
Vmn2r65	A	G	7: 84,595,919 (GRCm39)	I255T	probably damaging	Het
Vps35l	T	C	7: 118,342,855 (GRCm39)	S47P	probably benign	Het
Wdr70	A	G	15: 8,006,612 (GRCm39)	L313P	possibly damaging	Het
Ythdf2	C	A	4: 131,932,089 (GRCm39)	R357L	probably damaging	Het
Zfp523	T	C	17: 28,420,267 (GRCm39)	C262R	probably damaging	Het
Zfp553	T	C	7: 126,835,936 (GRCm39)	V497A	probably benign	Het
Zhx1	A	G	15: 57,916,662 (GRCm39)	L528S	probably benign	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
R7009:Acadvl	UTSW	11	69,905,617 (GRCm39)	critical splice donor site	probably null
R7623:Acadvl	UTSW	11	69,901,569 (GRCm39)	missense	probably damaging	1.00
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'- CACACAGATCATGTTTCAGGGG -3'
(R):5'- TTCTCAAAGAGCTGGTGGGAC -3'

Sequencing Primer
(F):5'- CAGGCAGGTAGACACTACTCTG -3'
(R):5'- ACCAGTGGCCCGGTTCTTTG -3'

Posted On

2020-06-30