Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Acad10'

252354

Institutional Source

Beutler Lab

Gene Symbol

Acad10

Ensembl Gene

ENSMUSG00000029456

Gene Name

acyl-Coenzyme A dehydrogenase family, member 10

Synonyms

2410021P16Rik

MMRRC Submission

040428-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121621026-121660514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121630204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 763 (N763I)

Ref Sequence

ENSEMBL: ENSMUSP00000107400 (fasta)

Gene Model

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

AlphaFold

Q8K370

Predicted Effect

probably damaging
Transcript: ENSMUST00000031412
AA Change: N763I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: N763I

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 damaging
Transcript: ENSMUST00000111770
AA Change: N763I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: N763I

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,987,282	V281A	probably damaging	Het
Adam1b	A	T	5: 121,501,748	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,579,208	Q77L	probably damaging	Het
Adgre4	T	A	17: 55,778,878	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,142,164	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,699,956	T434S	probably benign	Het
B020004J07Rik	T	C	4: 101,837,246	T147A	probably benign	Het
BC067074	C	T	13: 113,318,587	T389I	probably benign	Het
Bcl10	T	A	3: 145,933,030	N142K	probably benign	Het
C1qc	T	C	4: 136,890,091	I231M	probably benign	Het
Cacna1b	A	T	2: 24,606,637	L2307*	probably null	Het
Cadm2	G	A	16: 66,815,383	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 180,150,177	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,203,792	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyp2c50	C	G	19: 40,090,320	H90D	probably benign	Het
Dach1	A	G	14: 97,901,411	M480T	probably benign	Het
Dennd1a	A	T	2: 37,844,783	F57L	probably damaging	Het
Dhcr24	T	C	4: 106,585,832	F355L	probably benign	Het
Drc1	A	G	5: 30,355,265	R339G	probably damaging	Het
Efna5	A	T	17: 62,881,028	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,815,741	V811A	probably damaging	Het
Fam135a	A	T	1: 24,021,964	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,874,712	R28L	probably damaging	Het
Gm11639	T	A	11: 104,733,664	S840R	probably damaging	Het
Gm9936	A	G	5: 114,857,544		probably benign	Het
Hgsnat	C	T	8: 25,945,252	W618*	probably null	Het
Itgal	T	C	7: 127,314,096	F622L	probably damaging	Het
Kalrn	C	T	16: 34,310,495	E451K	probably damaging	Het
Kat2a	A	T	11: 100,710,822	F256I	probably damaging	Het
Lama4	A	T	10: 39,075,358	D1033V	possibly damaging	Het
Lama4	T	A	10: 39,106,047	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,932,047	Y212H	probably damaging	Het
Lsm10	T	C	4: 126,097,923	L24P	probably damaging	Het
Mtfp1	T	C	11: 4,094,504	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,370,475	D399E	probably benign	Het
Ncor2	T	C	5: 125,028,800		probably null	Het
Nek9	A	C	12: 85,332,546	Y195*	probably null	Het
Npas1	T	C	7: 16,474,703	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,369,821	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,805,438	N10S	probably benign	Het
Olfr545	T	C	7: 102,493,899	N292S	probably damaging	Het
Olfr58	T	A	9: 19,784,009	L292Q	probably damaging	Het
Olfr693	A	G	7: 106,677,667	I273T	probably benign	Het
Pcdha4	A	T	18: 36,953,612	T283S	probably benign	Het
Pdk1	A	C	2: 71,873,560	D64A	possibly damaging	Het
Ptpdc1	C	T	13: 48,586,063	A631T	probably benign	Het
Rasal2	G	T	1: 157,161,300	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,360,150	V55E	possibly damaging	Het
Shank2	A	T	7: 144,068,770	I214F	probably damaging	Het
Slfn14	T	C	11: 83,283,607	N186S	probably benign	Het
Soga3	A	T	10: 29,146,765	Q36L	possibly damaging	Het
Sptbn5	A	T	2: 120,048,640		noncoding transcript	Het
Stradb	C	T	1: 58,988,584	T91I	probably damaging	Het
Sulf2	T	C	2: 166,085,801	I359V	probably benign	Het
Tbl3	A	T	17: 24,703,316	M405K	possibly damaging	Het
Tecta	G	T	9: 42,332,552	D2001E	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Tgfbi	T	A	13: 56,638,708		probably null	Het
Tmem132a	A	T	19: 10,859,742	L612Q	probably null	Het
Tnf	T	C	17: 35,200,500	N102S	probably damaging	Het
Trib3	A	T	2: 152,343,236	V31D	probably benign	Het
Ube2q2	T	A	9: 55,191,856	F248L	probably benign	Het
Usf3	T	C	16: 44,216,381	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,842,882	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,227,323	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,368,673	N451T	probably damaging	Het
Zfp593	C	A	4: 134,245,558		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGGTTAGAGTTCAGAGGGACC -3'
(R):5'- AGGGTCCTTAAACTCAGAGGAG -3'

Sequencing Primer
(F):5'- TTAGAGTTCAGAGGGACCCACATC -3'
(R):5'- TCCTTAAACTCAGAGGAGGGTGTG -3'

Posted On

2014-12-04