Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02379:Acad10'

291274

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 #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

121621026-121660514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121622043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 996 (I996F)

Ref Sequence

ENSEMBL: ENSMUSP00000107400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031412] [ENSMUST00000041252] [ENSMUST00000111770] [ENSMUST00000111776] [ENSMUST00000197916]

AlphaFold

Q8K370

Predicted Effect

probably damaging
Transcript: ENSMUST00000031412
AA Change: I996F

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

SMART Domains

Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: I996F

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: ENSMUST00000041252

SMART Domains

Protein: ENSMUSP00000046497
Gene: ENSMUSG00000042647

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	151	278	7e-16	PFAM
Pfam:Acyl-CoA_dh_M	282	383	1.9e-18	PFAM
Pfam:Acyl-CoA_dh_1	395	536	1.5e-27	PFAM
Pfam:Acyl-CoA_dh_2	411	526	1.7e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111770
AA Change: I996F

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

SMART Domains

Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: I996F

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

probably benign
Transcript: ENSMUST00000111776

SMART Domains

Protein: ENSMUSP00000107406
Gene: ENSMUSG00000042647

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	151	278	1.9e-15	PFAM
Pfam:Acyl-CoA_dh_M	282	336	1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137789

Predicted Effect

probably benign
Transcript: ENSMUST00000197916

SMART Domains

Protein: ENSMUSP00000142370
Gene: ENSMUSG00000042647

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SCOP:d1j97a_	40	67	1e-2	SMART

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	A	6: 92,797,033	D1133V	probably damaging	Het
Adi1	T	A	12: 28,679,467	D106E	probably damaging	Het
Agl	A	G	3: 116,779,091	F837S	probably damaging	Het
Alb	T	A	5: 90,465,879	D207E	probably benign	Het
Alms1	T	G	6: 85,629,633	V2286G	probably damaging	Het
Alpl	G	A	4: 137,742,558	A485V	probably damaging	Het
Antxrl	C	A	14: 34,056,535		probably null	Het
Apc	C	T	18: 34,298,745	T417I	probably benign	Het
Ash2l	T	C	8: 25,822,771	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980	P582S	probably damaging	Het
Bcr	T	A	10: 75,157,148	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,191,341	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,645,553	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,723,946	D47G	probably benign	Het
Clca4b	T	A	3: 144,921,858	M451L	probably benign	Het
Csnk1g3	T	C	18: 53,933,492	S346P	probably benign	Het
Cspg4	G	T	9: 56,892,609		probably benign	Het
Ctr9	A	G	7: 111,051,519	K884E	probably damaging	Het
Cyld	T	A	8: 88,744,928	C813*	probably null	Het
Fn3k	A	T	11: 121,435,124	T46S	probably benign	Het
Foxred1	T	C	9: 35,209,986	R89G	probably benign	Het
Gpr174	T	C	X: 107,293,478	F299L	probably damaging	Het
Hdac7	T	C	15: 97,808,385	D312G	probably damaging	Het
Il1f8	A	G	2: 24,154,638	S17G	probably benign	Het
Kcna5	G	T	6: 126,534,509	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,326,638	V425G	probably damaging	Het
Klk5	A	G	7: 43,850,822	N278S	probably damaging	Het
Mars2	T	A	1: 55,238,053	W272R	probably damaging	Het
Msl3l2	C	A	10: 56,115,921	S247R	possibly damaging	Het
Myh7	T	C	14: 54,979,468	E1144G	probably damaging	Het
Nefm	T	C	14: 68,120,239		probably benign	Het
Nwd2	A	G	5: 63,805,301	K743E	probably damaging	Het
Nyap2	C	T	1: 81,087,430	T53I	probably damaging	Het
Olfr1124	T	C	2: 87,435,324	V279A	probably benign	Het
Olfr617	T	C	7: 103,584,892	V290A	possibly damaging	Het
Peli2	A	G	14: 48,168,298	H60R	probably damaging	Het
Pias2	T	A	18: 77,145,148		probably benign	Het
Pik3c2b	A	G	1: 133,094,791	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,866,111		probably null	Het
Raf1	A	T	6: 115,644,548	D23E	probably benign	Het
Rhox10	G	A	X: 38,066,856	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,138,888	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,118,660	S105T	probably benign	Het
Slc12a9	T	G	5: 137,321,429	Q608P	probably damaging	Het
Smg6	C	A	11: 75,053,925	P167T	probably damaging	Het
Spata7	C	T	12: 98,634,260	T44I	probably damaging	Het
Spink12	C	T	18: 44,106,508		probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stag2	C	T	X: 42,250,597	T754I	probably benign	Het
Supt6	C	T	11: 78,225,369	V723M	possibly damaging	Het
Ttc25	A	T	11: 100,566,983	N471Y	possibly damaging	Het
Ubr3	A	G	2: 69,948,488	D614G	possibly damaging	Het
Vps39	T	A	2: 120,323,608	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,612,859	L29Q	probably damaging	Het
Wtap	G	A	17: 12,969,449	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,975	F5L	probably benign	Het
Zfp655	C	T	5: 145,243,955	P208S	probably benign	Het
Zswim3	A	T	2: 164,820,682		probably null	Het

Other mutations in Acad10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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