Mutagenetix > Incidental Mutation

Incidental Mutation 'R3055:Acad11'

265134

Institutional Source

Beutler Lab

Gene Symbol

Acad11

Ensembl Gene

ENSMUSG00000090150

Gene Name

acyl-Coenzyme A dehydrogenase family, member 11

Synonyms

5730439E10Rik

MMRRC Submission

040564-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104063377-104127725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104076336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 126 (I126V)

Ref Sequence

ENSEMBL: ENSMUSP00000043424 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047799
AA Change: I126V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: I126V

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

possibly damaging
Transcript: ENSMUST00000120854
AA Change: I8V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: I8V

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

probably benign
Transcript: ENSMUST00000147249

SMART Domains

Protein: ENSMUSP00000115381
Gene: ENSMUSG00000101152

Domain	Start	End	E-Value	Type
Pfam:TPR_12	1	48	3e-14	PFAM
Pfam:TPR_12	12	75	2.1e-14	PFAM
Pfam:TPR_10	15	56	7.8e-13	PFAM
Pfam:TPR_1	16	49	4.4e-9	PFAM
Pfam:TPR_7	18	58	7e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189998
AA Change: I126V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.1538

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	G	14: 4,348,878	E13G	probably damaging	Het
5730596B20Rik	A	T	6: 52,179,128		probably benign	Het
A230050P20Rik	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,873,717		probably benign	Het
Abca16	A	G	7: 120,435,851	M287V	probably benign	Het
Abca7	G	A	10: 79,999,747	R283H	probably damaging	Het
Ahrr	A	G	13: 74,224,887	V148A	probably damaging	Het
Aldh1l2	T	C	10: 83,502,472	K528E	probably benign	Het
Atp6v0a2	T	A	5: 124,627,144		probably benign	Het
Atxn10	A	G	15: 85,387,005	D248G	probably benign	Het
Bard1	A	G	1: 71,088,231	V73A	possibly damaging	Het
Catsper3	T	C	13: 55,808,896	S376P	unknown	Het
Ccdc150	A	G	1: 54,288,842	N361S	possibly damaging	Het
Cxcr6	A	T	9: 123,810,464	I177F	probably damaging	Het
D330045A20Rik	T	A	X: 139,511,557	V439E	possibly damaging	Het
Ddx25	A	G	9: 35,551,351	V246A	probably damaging	Het
Drd4	T	C	7: 141,294,479	V319A	probably damaging	Het
Dscam	G	A	16: 96,801,355	T629I	probably damaging	Het
Evi5l	C	T	8: 4,191,603	R311*	probably null	Het
Fxr1	A	G	3: 34,049,184	E221G	probably damaging	Het
Gldn	A	T	9: 54,338,523	T453S	probably damaging	Het
Gm436	A	G	4: 144,674,698	I72T	probably benign	Het
Ighm	T	A	12: 113,418,976		probably benign	Het
Ints12	G	A	3: 133,109,365	M444I	possibly damaging	Het
Lgr5	T	A	10: 115,466,123		probably benign	Het
Mier3	T	A	13: 111,691,303	D7E	probably damaging	Het
Mms19	A	T	19: 41,950,088		probably benign	Het
Mrpl20	G	T	4: 155,803,872	V43F	possibly damaging	Het
Muc5b	G	T	7: 141,864,041	V3575F	probably damaging	Het
Naip5	T	C	13: 100,221,878	Y950C	probably benign	Het
Olfr1094	T	C	2: 86,829,127	F125S	possibly damaging	Het
Olfr463	A	G	11: 87,893,372	V184A	possibly damaging	Het
Olfr875	G	T	9: 37,773,193	C178F	probably damaging	Het
Pkd1l2	T	A	8: 117,068,315		probably null	Het
Prune2	A	G	19: 17,125,043	E2522G	probably damaging	Het
Radil	T	C	5: 142,495,406	T549A	possibly damaging	Het
Rasa2	G	A	9: 96,611,473	L53F	possibly damaging	Het
Rasgrf2	A	G	13: 92,029,075	F306L	probably damaging	Het
Rbm19	C	T	5: 120,133,010	R633C	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Slc4a4	T	A	5: 89,132,507	L353H	probably damaging	Het
Slc4a4	T	C	5: 89,225,948	V971A	probably damaging	Het
Stil	T	A	4: 115,014,069		probably benign	Het
Tjp3	T	C	10: 81,280,507	K251R	probably benign	Het
Ugt2b35	A	T	5: 87,001,598	Y236F	probably benign	Het
Utp14b	T	A	1: 78,664,725	D113E	possibly damaging	Het
Vmn1r121	G	A	7: 21,098,465	Q17*	probably null	Het
Vmn2r28	A	T	7: 5,481,392	L603Q	probably damaging	Het
Vps13b	A	G	15: 35,646,361	E1537G	probably damaging	Het
Xrcc4	T	C	13: 90,062,077	T83A	probably benign	Het
Yae1d1	T	C	13: 17,993,242	E22G	probably 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
IGL02742:Acad11	APN	9	104095625	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGAAGATGTGGGTTACAAGCAG -3'
(R):5'- TACGTTACTTCTGAGACCATGC -3'

Sequencing Primer
(F):5'- GTGGGTTACAAGCAGTTTAAAACC -3'
(R):5'- TGCAGTACATTCTGACGCAG -3'

Posted On

2015-02-05