Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02742:Acad11'

305954

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acad11

Ensembl Gene

ENSMUSG00000090150

Gene Name

acyl-Coenzyme A dehydrogenase family, member 11

Synonyms

5730439E10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL02742

Quality Score

Status

Chromosome

Chromosomal Location

104063377-104127725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104095625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 506 (T506A)

Ref Sequence

ENSEMBL: ENSMUSP00000043424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047799] [ENSMUST00000076147] [ENSMUST00000120854] [ENSMUST00000188000] [ENSMUST00000189998] [ENSMUST00000219146]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047799
AA Change: T506A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: T506A

Domain	Start	End	E-Value	Type
Pfam:APH	43	307	3.5e-45	PFAM
Pfam:Acyl-CoA_dh_N	376	498	1.5e-13	PFAM
Pfam:Acyl-CoA_dh_M	502	605	1.7e-21	PFAM
Pfam:Acyl-CoA_dh_1	617	768	2.7e-36	PFAM
Pfam:Acyl-CoA_dh_2	632	743	2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050139

SMART Domains

Protein: ENSMUSP00000062941
Gene: ENSMUSG00000041748

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076147

SMART Domains

Protein: ENSMUSP00000075507
Gene: ENSMUSG00000079355

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
Pfam:7tm_1	58	303	8.9e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120854
AA Change: T388A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: T388A

Domain	Start	End	E-Value	Type
Pfam:APH	1	188	1.1e-28	PFAM
Pfam:EcKinase	49	143	4.8e-9	PFAM
Pfam:Acyl-CoA_dh_N	257	380	8.7e-15	PFAM
Pfam:Acyl-CoA_dh_M	385	439	2.4e-19	PFAM
Pfam:Acyl-CoA_dh_1	499	650	1.3e-37	PFAM
Pfam:Acyl-CoA_dh_2	514	632	2.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154431

Predicted Effect

probably benign
Transcript: ENSMUST00000188000

SMART Domains

Protein: ENSMUSP00000140792
Gene: ENSMUSG00000079355

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
Pfam:7tm_1	58	303	5.6e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189998
AA Change: T506A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000219146

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 an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI314180	A	G	4: 58,840,757	V667A	probably damaging	Het
Ankib1	A	C	5: 3,693,479	D845E	probably benign	Het
Atxn2	T	C	5: 121,781,336	V369A	possibly damaging	Het
Ccdc50	T	A	16: 27,406,784		probably benign	Het
Clec2g	A	G	6: 128,980,261	I61V	possibly damaging	Het
Col16a1	G	A	4: 130,061,379		probably benign	Het
Dapk2	A	G	9: 66,231,814	Y139C	probably damaging	Het
Fnip1	T	C	11: 54,493,351	L334P	probably damaging	Het
Igf1r	A	G	7: 68,189,991	E682G	possibly damaging	Het
Ints8	T	C	4: 11,241,627	E272G	possibly damaging	Het
Jph2	G	A	2: 163,375,779	P326S	probably damaging	Het
Krtap1-4	T	C	11: 99,583,114		probably benign	Het
Lrp5	A	G	19: 3,604,022	I1135T	probably damaging	Het
Lrrk1	A	G	7: 66,308,691	V320A	probably benign	Het
Myh6	A	C	14: 54,953,924	I820S	possibly damaging	Het
Napg	A	T	18: 62,986,248	T110S	probably damaging	Het
Nova1	G	A	12: 46,720,692	Q56*	probably null	Het
Phyhip	A	G	14: 70,461,927		probably null	Het
Pkd2l2	C	A	18: 34,416,917	S205*	probably null	Het
Ppp2r1a	G	T	17: 20,959,003	C101F	probably benign	Het
Serpinb3c	G	A	1: 107,273,142	R182*	probably null	Het
St18	A	C	1: 6,802,316		probably benign	Het
St6galnac4	C	T	2: 32,597,084	R264C	possibly damaging	Het
Tmem168	T	C	6: 13,603,262	Y35C	probably benign	Het
Tmem219	A	G	7: 126,897,048	L74P	probably damaging	Het
Trpc4	T	A	3: 54,299,246	N622K	probably damaging	Het
Trpm6	A	C	19: 18,830,012		probably benign	Het
Ttl	C	A	2: 129,066,293	F49L	possibly damaging	Het
Vmn1r123	A	T	7: 21,163,043	I287F	possibly damaging	Het
Vmn2r97	T	G	17: 18,929,170	I273M	probably damaging	Het
Wdr5	C	A	2: 27,520,425		probably benign	Het
Zcchc6	C	T	13: 59,816,342	D250N	probably damaging	Het
Zfp37	C	A	4: 62,192,311	C172F	possibly damaging	Het

Other mutations in Acad11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Acad11	APN	9	104126656	missense	probably damaging	1.00
IGL01100:Acad11	APN	9	104076408	missense	probably damaging	0.98
IGL01920:Acad11	APN	9	104063905	critical splice donor site	probably null
IGL02019:Acad11	APN	9	104115345	missense	probably damaging	1.00
IGL02506:Acad11	APN	9	104091732	critical splice donor site	probably null
IGL02830:Acad11	APN	9	104075919	missense	probably damaging	1.00
IGL02936:Acad11	APN	9	104113512	missense	probably benign	0.31
R0092:Acad11	UTSW	9	104090341	splice site	probably benign
R0277:Acad11	UTSW	9	104124025	missense	probably damaging	1.00
R0377:Acad11	UTSW	9	104081692	splice site	probably benign
R0411:Acad11	UTSW	9	104116296	missense	probably damaging	1.00
R0556:Acad11	UTSW	9	104115302	missense	probably damaging	1.00
R0594:Acad11	UTSW	9	104095563	missense	probably benign	0.09
R0688:Acad11	UTSW	9	104124100	missense	probably damaging	1.00
R1416:Acad11	UTSW	9	104073623	missense	probably damaging	0.96
R1551:Acad11	UTSW	9	104126586	missense	probably damaging	0.99
R1730:Acad11	UTSW	9	104063882	missense	probably benign	0.02
R1819:Acad11	UTSW	9	104114539	critical splice donor site	probably null
R1884:Acad11	UTSW	9	104114485	missense	probably benign	0.13
R2411:Acad11	UTSW	9	104086023	intron	probably benign
R3055:Acad11	UTSW	9	104076336	missense	probably damaging	0.98
R3683:Acad11	UTSW	9	104115344	missense	probably damaging	1.00
R3954:Acad11	UTSW	9	104086152	intron	probably benign
R3956:Acad11	UTSW	9	104086152	intron	probably benign
R4425:Acad11	UTSW	9	104073645	missense	probably damaging	1.00
R4557:Acad11	UTSW	9	104082839	missense	probably benign	0.00
R4701:Acad11	UTSW	9	104095565	nonsense	probably null
R4764:Acad11	UTSW	9	104075877	missense	probably damaging	0.99
R4872:Acad11	UTSW	9	104086266	intron	probably benign
R5132:Acad11	UTSW	9	104126592	missense	probably benign	0.03
R5161:Acad11	UTSW	9	104124028	missense	probably benign	0.19
R5222:Acad11	UTSW	9	104097377	missense	probably damaging	1.00
R5587:Acad11	UTSW	9	104063767	missense	probably benign
R5683:Acad11	UTSW	9	104084283	missense	probably damaging	1.00
R6512:Acad11	UTSW	9	104095559	nonsense	probably null
R6815:Acad11	UTSW	9	104081327	missense	probably benign	0.01
R7035:Acad11	UTSW	9	104113495	missense	probably damaging	1.00
R7318:Acad11	UTSW	9	104081267	missense	probably damaging	1.00
R7564:Acad11	UTSW	9	104123089	missense	possibly damaging	0.94
R7673:Acad11	UTSW	9	104063906	splice site	probably null
R7812:Acad11	UTSW	9	104095548	missense	probably benign	0.41
R7850:Acad11	UTSW	9	104114529	missense	probably damaging	1.00
R8037:Acad11	UTSW	9	104075836	missense	possibly damaging	0.93
R8251:Acad11	UTSW	9	104091707	missense	possibly damaging	0.88
R9021:Acad11	UTSW	9	104126665	missense	possibly damaging	0.88
R9657:Acad11	UTSW	9	104075836	missense	possibly damaging	0.93

Posted On

2015-04-16