Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02643:Acad10'

301843

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acad10

Ensembl Gene

ENSMUSG00000029456

Gene Name

acyl-Coenzyme A dehydrogenase family, member 10

Synonyms

2410021P16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02643

Quality Score

Status

Chromosome

Chromosomal Location

121621026-121660514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121631570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 608 (M608L)

Ref Sequence

ENSEMBL: ENSMUSP00000107400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031412] [ENSMUST00000111770]

AlphaFold

Q8K370

Predicted Effect

probably benign
Transcript: ENSMUST00000031412
AA Change: M608L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: M608L

Domain	Start	End	E-Value	Type
Pfam:HAD_2	45	231	1.6e-14	PFAM
Pfam:Hydrolase	88	225	5e-8	PFAM
Pfam:APH	287	531	1.8e-52	PFAM
Pfam:Acyl-CoA_dh_N	660	787	1.7e-15	PFAM
Pfam:Acyl-CoA_dh_M	791	892	2.7e-20	PFAM
Pfam:Acyl-CoA_dh_1	904	1055	1.1e-35	PFAM
Pfam:Acyl-CoA_dh_2	919	1037	6.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111770
AA Change: M608L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: M608L

Domain	Start	End	E-Value	Type
Pfam:HAD_2	45	231	2.3e-14	PFAM
Pfam:APH	287	523	3.2e-50	PFAM
Pfam:EcKinase	390	504	5.2e-8	PFAM
Pfam:Acyl-CoA_dh_N	660	787	3.4e-14	PFAM
Pfam:Acyl-CoA_dh_M	791	845	2.7e-13	PFAM
Pfam:Acyl-CoA_dh_1	904	1055	9.4e-36	PFAM
Pfam:Acyl-CoA_dh_2	919	1037	1.6e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143187

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	T	11: 50,788,700	M836L	probably benign	Het
Ankrd11	A	T	8: 122,892,322	M1597K	probably damaging	Het
Arhgef17	A	T	7: 100,883,882	F1145L	possibly damaging	Het
Atp13a3	A	T	16: 30,333,796	W32R	probably null	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Bod1l	T	A	5: 41,818,805	E1722V	possibly damaging	Het
Ceacam16	A	G	7: 19,861,161		probably benign	Het
Col14a1	T	A	15: 55,420,862	Y840N	unknown	Het
Dlg5	A	G	14: 24,191,182	C132R	probably damaging	Het
Dock4	T	A	12: 40,668,430	N242K	probably damaging	Het
Dsg3	G	A	18: 20,528,955	V426I	probably benign	Het
Dync1h1	T	C	12: 110,659,272		probably benign	Het
Flvcr2	T	A	12: 85,796,223	M357K	possibly damaging	Het
Gapvd1	A	G	2: 34,704,180	S932P	probably damaging	Het
Gata4	T	A	14: 63,204,755	D205V	possibly damaging	Het
Gm5244	T	C	19: 12,846,936		noncoding transcript	Het
Kcnk2	T	A	1: 189,258,779	I195L	possibly damaging	Het
Krt1	T	C	15: 101,847,044	I427V	probably benign	Het
Mapk1ip1l	T	A	14: 47,310,882	H162Q	possibly damaging	Het
Micu1	A	G	10: 59,839,736	D380G	probably damaging	Het
Mknk2	A	C	10: 80,668,601	L289R	probably damaging	Het
Myo18a	A	T	11: 77,778,172	N286I	possibly damaging	Het
Olfr291	A	T	7: 84,857,031	I221F	probably damaging	Het
Pdp1	C	T	4: 11,962,062	R83H	probably benign	Het
Ptafr	A	C	4: 132,580,126	I276L	probably benign	Het
Rab3gap2	A	T	1: 185,267,000	D968V	possibly damaging	Het
Samd8	T	A	14: 21,793,144	M447K	probably damaging	Het
Six5	G	T	7: 19,097,530	V649L	probably benign	Het
Slc1a2	T	A	2: 102,739,880	F168I	probably benign	Het
Slc1a7	G	A	4: 108,012,300	V521M	possibly damaging	Het
Soga1	A	G	2: 157,040,743	V463A	probably damaging	Het
Sorbs1	T	C	19: 40,365,133	D206G	possibly damaging	Het
Stim2	T	C	5: 54,110,613	V417A	probably damaging	Het
Tbx20	A	G	9: 24,773,713		probably benign	Het
Tia1	A	G	6: 86,416,390	I71V	probably benign	Het
Ttc7	T	C	17: 87,340,899	S509P	possibly damaging	Het
Ttpal	A	G	2: 163,607,220		probably benign	Het
Tubgcp2	A	T	7: 139,996,154	N865K	probably damaging	Het
Wdr45	G	T	X: 7,727,049	E62*	probably null	Het
Zfp507	A	G	7: 35,795,231	F129S	probably damaging	Het
Zfp518b	T	A	5: 38,674,155	H169L	probably damaging	Het

Other mutations in Acad10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02379:Acad10	APN	5	121622043	missense	probably damaging	1.00
IGL02469:Acad10	APN	5	121645459	missense	probably damaging	1.00
IGL02526:Acad10	APN	5	121646860	missense	probably damaging	0.99
IGL02623:Acad10	APN	5	121629930	missense	possibly damaging	0.94
IGL02685:Acad10	APN	5	121632609	missense	probably benign
IGL03139:Acad10	APN	5	121626082	missense	probably benign
IGL03267:Acad10	APN	5	121637349	missense	probably benign	0.34
P0026:Acad10	UTSW	5	121637352	missense	probably damaging	1.00
R0099:Acad10	UTSW	5	121621290	missense	probably damaging	1.00
R0453:Acad10	UTSW	5	121627382	nonsense	probably null
R1051:Acad10	UTSW	5	121626080	missense	probably damaging	0.97
R1052:Acad10	UTSW	5	121649541	missense	possibly damaging	0.65
R1116:Acad10	UTSW	5	121630751	missense	probably damaging	1.00
R1548:Acad10	UTSW	5	121626040	splice site	probably benign
R1548:Acad10	UTSW	5	121626041	splice site	probably benign
R1571:Acad10	UTSW	5	121621348	missense	probably damaging	0.99
R1592:Acad10	UTSW	5	121645381	missense	probably damaging	0.99
R1741:Acad10	UTSW	5	121647836	missense	probably damaging	1.00
R1789:Acad10	UTSW	5	121631393	missense	possibly damaging	0.67
R1974:Acad10	UTSW	5	121626185	missense	possibly damaging	0.95
R2007:Acad10	UTSW	5	121634751	missense	probably damaging	1.00
R2085:Acad10	UTSW	5	121649460	missense	possibly damaging	0.79
R2351:Acad10	UTSW	5	121629927	missense	probably benign	0.23
R2511:Acad10	UTSW	5	121631567	missense	probably benign	0.02
R2570:Acad10	UTSW	5	121630204	missense	probably damaging	1.00
R3824:Acad10	UTSW	5	121622818	missense	probably benign
R3846:Acad10	UTSW	5	121634686	missense	probably benign	0.19
R4106:Acad10	UTSW	5	121631464	missense	probably damaging	0.98
R4107:Acad10	UTSW	5	121631464	missense	probably damaging	0.98
R4108:Acad10	UTSW	5	121631464	missense	probably damaging	0.98
R5569:Acad10	UTSW	5	121626080	missense	probably damaging	0.97
R5704:Acad10	UTSW	5	121631543	missense	probably benign	0.03
R5845:Acad10	UTSW	5	121626083	missense	probably benign
R5990:Acad10	UTSW	5	121645405	missense	probably damaging	1.00
R6019:Acad10	UTSW	5	121634801	missense	possibly damaging	0.88
R6145:Acad10	UTSW	5	121622033	missense	probably damaging	0.97
R6384:Acad10	UTSW	5	121652003	missense	probably benign	0.43
R6491:Acad10	UTSW	5	121630157	missense	probably damaging	1.00
R6608:Acad10	UTSW	5	121632492	missense	probably benign	0.02
R6941:Acad10	UTSW	5	121649357	missense	probably damaging	1.00
R7221:Acad10	UTSW	5	121630210	missense	probably damaging	1.00
R7283:Acad10	UTSW	5	121649475	missense	possibly damaging	0.79
R7355:Acad10	UTSW	5	121630717	nonsense	probably null
R7483:Acad10	UTSW	5	121656012	critical splice donor site	probably null
R7553:Acad10	UTSW	5	121639255	missense	probably damaging	1.00
R7721:Acad10	UTSW	5	121646866	splice site	probably null
R8075:Acad10	UTSW	5	121652085	missense	probably benign	0.00
R8400:Acad10	UTSW	5	121626205	missense	possibly damaging	0.82
R9171:Acad10	UTSW	5	121629918	missense	probably benign	0.14
X0061:Acad10	UTSW	5	121622813	missense	probably damaging	1.00

Posted On

2015-04-16