Mutagenetix > Incidental Mutation

Incidental Mutation 'R5845:Acad10'

453562

Institutional Source

Beutler Lab

Gene Symbol

Acad10

Ensembl Gene

ENSMUSG00000029456

Gene Name

acyl-Coenzyme A dehydrogenase family, member 10

Synonyms

2410021P16Rik

MMRRC Submission

044063-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121621026-121660514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121626083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 928 (Y928N)

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: Y928N

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

SMART Domains

Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: Y928N

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: Y928N

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

SMART Domains

Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: Y928N

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.3%

Validation Efficiency

97% (59/61)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cr12	T	A	1: 58,667,778	E243D	possibly damaging	Het
Amz2	T	C	11: 109,433,929	F213S	probably damaging	Het
Cage1	T	A	13: 38,015,706	S732C	probably damaging	Het
Ccnf	C	A	17: 24,240,793	D229Y	possibly damaging	Het
Cdon	G	T	9: 35,457,466	C332F	probably damaging	Het
Clca3b	G	A	3: 144,825,316	R758C	possibly damaging	Het
Cyp2ab1	C	T	16: 20,312,332	R349H	probably benign	Het
Dock10	C	T	1: 80,505,742		probably benign	Het
Dock5	A	T	14: 67,841,101	Y225N	possibly damaging	Het
Ear2	G	A	14: 44,103,161	R92K	probably benign	Het
Eif3c	T	C	7: 126,564,755	S39G	probably damaging	Het
Eml3	A	G	19: 8,939,218	D701G	probably damaging	Het
Fat3	G	A	9: 16,377,210	T339I	probably damaging	Het
Fbn2	T	C	18: 58,053,768	D1687G	possibly damaging	Het
Fcnb	C	T	2: 28,079,621		probably null	Het
Fscb	A	G	12: 64,472,784	V636A	unknown	Het
Gm6124	A	G	7: 39,219,875		noncoding transcript	Het
Hectd4	T	A	5: 121,307,524		probably null	Het
Hrnr	A	T	3: 93,332,637	H3394L	unknown	Het
Hs1bp3	A	G	12: 8,336,275	R226G	probably benign	Het
Ifngr2	T	C	16: 91,555,059	V61A	probably benign	Het
Kcnk2	T	C	1: 189,277,721		probably benign	Het
Kmt2d	G	A	15: 98,852,109		probably benign	Het
Lrmp	G	A	6: 145,171,666	M376I	probably benign	Het
Mgam	T	A	6: 40,675,323	N810K	possibly damaging	Het
Mis18a	A	G	16: 90,721,634		probably null	Het
Nsmce3	A	G	7: 64,872,188	V244A	possibly damaging	Het
Olfr1129	T	C	2: 87,576,023	I313T	probably benign	Het
Plxna4	A	T	6: 32,237,776	V590D	probably damaging	Het
Prkab1	A	T	5: 116,024,160	D30E	probably benign	Het
Rasgrp3	A	T	17: 75,503,147	N281Y	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Sept2	T	A	1: 93,499,035		probably null	Het
Slc26a6	T	G	9: 108,862,083	V609G	possibly damaging	Het
Spta1	T	A	1: 174,241,096	M2154K	probably damaging	Het
Stoml2	T	G	4: 43,030,008		probably benign	Het
Sult6b1	A	C	17: 78,894,630	S148A	probably damaging	Het
Tmem131l	A	G	3: 83,940,553	V335A	probably damaging	Het
Tmem221	T	A	8: 71,555,144		probably null	Het
Tmem88	C	G	11: 69,397,678	Q138H	probably benign	Het
Trpm8	T	C	1: 88,328,180	Y186H	probably benign	Het
Trpv1	T	C	11: 73,240,581	I7T	probably damaging	Het
Ttc34	T	C	4: 154,865,472	S961P	probably benign	Het
Ubr1	T	C	2: 120,904,005	D1138G	probably benign	Het
Ubr7	C	T	12: 102,766,312	R188C	probably damaging	Het
Uspl1	C	T	5: 149,193,960	P118S	probably benign	Het
Vdr	C	A	15: 97,869,766	E114D	possibly damaging	Het
Zfp853	C	T	5: 143,288,669	V399M	unknown	Het
Zswim4	T	A	8: 84,217,242		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
R5704:Acad10	UTSW	5	121631543	missense	probably benign	0.03
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'- CAGCTGAAGCCATGTAAAGTAC -3'
(R):5'- GGAACAGTGCCATTGGATAGTC -3'

Sequencing Primer
(F):5'- TACATGCAAAACAGAGATGCAGATTC -3'
(R):5'- AGTGCCATTGGATAGTCCTAACC -3'

Posted On

2017-02-10