Mutagenetix > Incidental Mutation

Incidental Mutation 'R5704:Acad10'

451838

Institutional Source

Beutler Lab

Gene Symbol

Acad10

Ensembl Gene

ENSMUSG00000029456

Gene Name

acyl-Coenzyme A dehydrogenase family, member 10

Synonyms

2410021P16Rik

MMRRC Submission

043329-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121621026-121660514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121631543 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 617 (S617P)

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: S617P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: S617P

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: S617P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: S617P

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

Meta Mutation Damage Score

0.1102

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (85/87)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	A	5: 104,968,170	A266V	probably damaging	Het
Ahi1	A	C	10: 21,074,427	M126L	probably benign	Het
Alk	T	C	17: 72,603,120	E197G	probably damaging	Het
Alyref2	A	T	1: 171,503,979	Y108F	probably damaging	Het
Ankrd26	T	G	6: 118,523,882	H876P	probably damaging	Het
Arfgef1	T	C	1: 10,159,583	T1298A	probably damaging	Het
Arhgap33	T	A	7: 30,519,620		probably benign	Het
Arhgef17	A	G	7: 100,881,341	S1413P	probably damaging	Het
Arid1a	A	T	4: 133,681,739	V1819E	unknown	Het
Asprv1	A	G	6: 86,628,550	N126S	probably damaging	Het
Atg16l2	T	C	7: 101,300,211	Y43C	probably damaging	Het
Atp13a3	G	T	16: 30,321,879	T1160K	probably benign	Het
Atp1a3	T	C	7: 24,997,311	T272A	probably damaging	Het
Bpifa3	G	T	2: 154,137,642		probably null	Het
Bri3	T	C	5: 144,255,906	V80A	probably damaging	Het
Ccdc28a	T	A	10: 18,230,572	E2V	probably damaging	Het
Ccdc7a	T	A	8: 128,980,096		probably benign	Het
Cds2	G	A	2: 132,293,329	V47I	probably benign	Het
Cela2a	G	A	4: 141,825,988		probably benign	Het
Ckap5	A	G	2: 91,576,203	Y783C	probably damaging	Het
Cmtr1	G	C	17: 29,663,243	A23P	possibly damaging	Het
Crym	C	A	7: 120,201,940		probably null	Het
Def6	T	G	17: 28,228,226	D610E	probably benign	Het
Dnajc15	T	C	14: 77,826,458	Y130C	probably damaging	Het
Dock8	G	A	19: 25,174,222	V1560I	probably damaging	Het
Eif4g3	T	C	4: 138,190,692	V1501A	probably damaging	Het
Esyt1	A	G	10: 128,511,510	S1049P	probably damaging	Het
Gm4952	G	T	19: 12,626,911	R229L	probably damaging	Het
Gm5724	T	C	6: 141,713,254	M539V	probably benign	Het
Golga5	T	A	12: 102,489,448	H548Q	probably benign	Het
Gspt1	A	T	16: 11,228,193	D449E	possibly damaging	Het
Gtf3c2	T	A	5: 31,159,110	D732V	probably damaging	Het
Hax1	T	A	3: 89,996,096	Q168L	probably damaging	Het
Hectd2	T	A	19: 36,598,891	S91T	possibly damaging	Het
Igfbp2	T	A	1: 72,852,144	H300Q	probably benign	Het
Il12rb2	T	C	6: 67,292,213	N538S	possibly damaging	Het
Insr	G	A	8: 3,185,122	P124L	possibly damaging	Het
Irak3	C	A	10: 120,145,689	R437L	probably benign	Het
Jhy	C	T	9: 40,897,438	V676I	probably damaging	Het
Kcns3	G	A	12: 11,092,327	R124C	probably benign	Het
Lactb	G	A	9: 66,955,776	R519*	probably null	Het
Mdfic	G	A	6: 15,770,292	G94D	probably damaging	Het
Mospd3	A	G	5: 137,600,351	V42A	possibly damaging	Het
Mov10	A	G	3: 104,799,596	V666A	probably benign	Het
Mucl1	T	C	15: 103,755,397	I15V	probably benign	Het
Mug1	T	A	6: 121,851,433	V268D	possibly damaging	Het
Myo5c	T	A	9: 75,272,903	S709T	probably benign	Het
Nol11	T	A	11: 107,173,369	E519V	probably benign	Het
Nrp2	A	T	1: 62,785,108	I791L	probably benign	Het
Nudt19	A	G	7: 35,551,547	Y256H	probably benign	Het
Nudt8	C	T	19: 4,000,777	R42C	probably damaging	Het
Olfr198	A	G	16: 59,202,006	L140P	probably damaging	Het
Olfr806	T	A	10: 129,738,816	I34F	probably benign	Het
Pcdhga12	A	G	18: 37,767,369	Y418C	probably damaging	Het
Pds5a	A	G	5: 65,627,079		probably null	Het
Pdzd2	T	C	15: 12,385,675	D1003G	probably benign	Het
Pglyrp4	T	A	3: 90,740,274		probably null	Het
Phip	T	C	9: 82,871,355	N1779D	probably damaging	Het
Postn	G	T	3: 54,372,106	C335F	probably damaging	Het
Ppp4r3a	T	C	12: 101,083,360		probably benign	Het
Prrt2	C	T	7: 127,019,418	V292M	probably damaging	Het
Rpl18	T	C	7: 45,720,722	V138A	possibly damaging	Het
Rps14	G	A	18: 60,777,133		probably benign	Het
Sbno1	A	G	5: 124,395,893		probably null	Het
Siah2	T	G	3: 58,676,400	K155T	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc25a39	T	A	11: 102,403,394		probably benign	Het
Smok2b	T	A	17: 13,236,344	C464S	probably damaging	Het
Spata31	G	A	13: 64,922,041	V668I	probably benign	Het
Tbxas1	C	A	6: 39,021,133	H212N	probably benign	Het
Tenm1	A	G	X: 43,074,695	V107A	possibly damaging	Het
Thada	C	T	17: 84,230,901	A1560T	probably benign	Het
Tmem241	G	C	18: 12,064,206	F65L	probably damaging	Het
Ttc16	C	G	2: 32,769,125	E321Q	probably damaging	Het
Ttn	A	T	2: 76,918,585	L4040H	possibly damaging	Het
Tyw1	G	A	5: 130,282,022	W437*	probably null	Het
Unc79	T	A	12: 103,001,943	Y143N	probably damaging	Het
Urb2	C	T	8: 124,038,182	R1310W	probably damaging	Het
Vmn2r4	T	C	3: 64,409,949	I34V	probably benign	Het
Zfp513	C	T	5: 31,200,666	C121Y	possibly damaging	Het
Zfp606	T	G	7: 12,493,529	W468G	probably damaging	Het
Zfyve16	C	T	13: 92,504,471		probably null	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
IGL02643:Acad10	APN	5	121631570	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTCTATCAGCGGGGAAGG -3'
(R):5'- TGTCACTGACTCACACATCC -3'

Sequencing Primer
(F):5'- GGGGGTACACCTTCTGTTCTATAAAC -3'
(R):5'- ACACATCCCCAGGGTGGTTATG -3'

Posted On

2017-01-03