Mutagenetix > Incidental Mutation

Incidental Mutation 'R9657:Acad11'

727397

Institutional Source

Beutler Lab

Gene Symbol

Acad11

Ensembl Gene

ENSMUSG00000090150

Gene Name

acyl-Coenzyme A dehydrogenase family, member 11

Synonyms

5730439E10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R9657 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103940923-104004855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103953035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 88 (I88N)

Ref Sequence

ENSEMBL: ENSMUSP00000043424 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047799
AA Change: I88N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: I88N

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

probably benign
Transcript: ENSMUST00000120854

SMART Domains

Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150

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

SMART Domains

Protein: ENSMUSP00000115381
Gene: ENSMUSG00000101152
AA Change: I107N

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: I88N

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,243,379 (GRCm39)	D1747E	probably benign	Het
Atp2b4	T	C	1: 133,656,478 (GRCm39)	E724G	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,599 (GRCm39)	S63P	probably damaging	Het
Blzf1	T	C	1: 164,134,023 (GRCm39)	S9G	probably benign	Het
Ccdc121rt1	T	C	1: 181,338,104 (GRCm39)	T283A	probably benign	Het
Cdh22	T	C	2: 164,965,715 (GRCm39)	D488G	probably benign	Het
Cep290	A	G	10: 100,351,003 (GRCm39)	E688G	possibly damaging	Het
Cldn10	A	C	14: 119,025,781 (GRCm39)	E71D	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cyp3a16	T	C	5: 145,386,979 (GRCm39)	D337G	probably null	Het
Dnah5	A	T	15: 28,410,089 (GRCm39)	D3654V	probably damaging	Het
Dock1	T	C	7: 134,339,429 (GRCm39)	S100P	possibly damaging	Het
Hdgfl2	T	C	17: 56,405,978 (GRCm39)	V488A	unknown	Het
Itih2	T	C	2: 10,107,686 (GRCm39)	T627A	probably damaging	Het
Katnip	A	G	7: 125,441,956 (GRCm39)	S648G	probably benign	Het
Klhl33	T	C	14: 51,134,117 (GRCm39)	D144G	probably benign	Het
Lca5l	G	A	16: 95,974,953 (GRCm39)	Q324*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mical2	A	G	7: 111,921,806 (GRCm39)	T542A	probably benign	Het
Moxd1	T	A	10: 24,128,485 (GRCm39)	V179E	probably benign	Het
Myh7b	A	G	2: 155,455,963 (GRCm39)	Y116C	probably damaging	Het
Myoc	C	T	1: 162,467,229 (GRCm39)	R133*	probably null	Het
Nol3	A	T	8: 106,005,641 (GRCm39)	I12F	probably damaging	Het
Nrap	A	G	19: 56,352,377 (GRCm39)	V605A	probably benign	Het
Or5w13	T	C	2: 87,524,121 (GRCm39)	Y35C	probably damaging	Het
Or9m2	A	C	2: 87,821,310 (GRCm39)	N285T	probably damaging	Het
Pag1	G	T	3: 9,769,791 (GRCm39)	S52R	probably damaging	Het
Pbxip1	A	G	3: 89,355,056 (GRCm39)	D525G	probably benign	Het
Pla2g4f	A	G	2: 120,135,138 (GRCm39)	F437L	probably benign	Het
Podn	A	C	4: 107,884,231 (GRCm39)	I86S	probably damaging	Het
Postn	A	G	3: 54,290,820 (GRCm39)	T676A	probably benign	Het
Ppp1r1c	A	G	2: 79,638,718 (GRCm39)	E104G	probably benign	Het
Prss53	T	C	7: 127,486,238 (GRCm39)	T436A	probably damaging	Het
Psme4	A	T	11: 30,788,980 (GRCm39)	E1127D	probably benign	Het
Ptpn18	C	A	1: 34,512,473 (GRCm39)	A426E	possibly damaging	Het
Ptprz1	T	G	6: 23,042,377 (GRCm39)	C2044G	possibly damaging	Het
Rad54l2	C	A	9: 106,581,372 (GRCm39)	V850L	probably damaging	Het
Ranbp9	A	G	13: 43,557,155 (GRCm39)	I28T	unknown	Het
Rapgef2	A	T	3: 78,999,191 (GRCm39)	V527E	probably damaging	Het
Rere	C	A	4: 150,699,390 (GRCm39)	P825T	unknown	Het
Rundc3a	A	G	11: 102,291,578 (GRCm39)	T349A	probably benign	Het
Scn2a	T	C	2: 65,566,032 (GRCm39)	F1352S	probably damaging	Het
Senp7	T	A	16: 55,944,295 (GRCm39)	C206*	probably null	Het
Serac1	C	T	17: 6,119,658 (GRCm39)	V91I	probably benign	Het
Serpina1f	G	A	12: 103,656,050 (GRCm39)	Q393*	probably null	Het
Slc8a1	T	C	17: 81,955,244 (GRCm39)	E598G	probably damaging	Het
Slmap	A	T	14: 26,151,013 (GRCm39)	H518Q	probably benign	Het
Spg11	G	A	2: 121,910,781 (GRCm39)	R1199C	probably damaging	Het
Tada1	T	C	1: 166,214,312 (GRCm39)	S104P	possibly damaging	Het
Tbck	A	G	3: 132,421,451 (GRCm39)	D186G	probably damaging	Het
Tdrd9	A	C	12: 112,002,824 (GRCm39)	R824S	possibly damaging	Het
Tmem161a	T	C	8: 70,630,260 (GRCm39)		probably null	Het
Trim55	G	A	3: 19,728,671 (GRCm39)	G494D	possibly damaging	Het
Ttc17	T	A	2: 94,237,010 (GRCm39)	M1L	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ugt3a1	A	C	15: 9,280,133 (GRCm39)	S32R	probably damaging	Het
Vgll3	T	C	16: 65,636,343 (GRCm39)	S220P	probably benign	Het
Virma	A	G	4: 11,544,898 (GRCm39)	E1569G	probably damaging	Het
Vmn1r54	C	G	6: 90,246,984 (GRCm39)	F299L	probably benign	Het
Vmn2r114	A	G	17: 23,510,690 (GRCm39)	S597P	probably damaging	Het
Wdr7	A	G	18: 64,057,918 (GRCm39)	D1249G	probably damaging	Het
Wdr97	A	G	15: 76,245,476 (GRCm39)	Y1271C		Het
Yju2b	T	C	8: 84,987,084 (GRCm39)	K138E	possibly damaging	Het
Ypel4	A	G	2: 84,568,068 (GRCm39)	Y108C	probably damaging	Het
Zfp770	A	G	2: 114,027,766 (GRCm39)	V101A	probably damaging	Het
Zfyve9	A	T	4: 108,575,729 (GRCm39)	C451S	probably damaging	Het

Other mutations in Acad11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Acad11	APN	9	104,003,855 (GRCm39)	missense	probably damaging	1.00
IGL01100:Acad11	APN	9	103,953,607 (GRCm39)	missense	probably damaging	0.98
IGL01920:Acad11	APN	9	103,941,104 (GRCm39)	critical splice donor site	probably null
IGL02019:Acad11	APN	9	103,992,544 (GRCm39)	missense	probably damaging	1.00
IGL02506:Acad11	APN	9	103,968,931 (GRCm39)	critical splice donor site	probably null
IGL02742:Acad11	APN	9	103,972,824 (GRCm39)	missense	probably damaging	1.00
IGL02830:Acad11	APN	9	103,953,118 (GRCm39)	missense	probably damaging	1.00
IGL02936:Acad11	APN	9	103,990,711 (GRCm39)	missense	probably benign	0.31
R0092:Acad11	UTSW	9	103,967,540 (GRCm39)	splice site	probably benign
R0277:Acad11	UTSW	9	104,001,224 (GRCm39)	missense	probably damaging	1.00
R0377:Acad11	UTSW	9	103,958,891 (GRCm39)	splice site	probably benign
R0411:Acad11	UTSW	9	103,993,495 (GRCm39)	missense	probably damaging	1.00
R0556:Acad11	UTSW	9	103,992,501 (GRCm39)	missense	probably damaging	1.00
R0594:Acad11	UTSW	9	103,972,762 (GRCm39)	missense	probably benign	0.09
R0688:Acad11	UTSW	9	104,001,299 (GRCm39)	missense	probably damaging	1.00
R1416:Acad11	UTSW	9	103,950,822 (GRCm39)	missense	probably damaging	0.96
R1551:Acad11	UTSW	9	104,003,785 (GRCm39)	missense	probably damaging	0.99
R1730:Acad11	UTSW	9	103,941,081 (GRCm39)	missense	probably benign	0.02
R1819:Acad11	UTSW	9	103,991,738 (GRCm39)	critical splice donor site	probably null
R1884:Acad11	UTSW	9	103,991,684 (GRCm39)	missense	probably benign	0.13
R2411:Acad11	UTSW	9	103,963,222 (GRCm39)	intron	probably benign
R3055:Acad11	UTSW	9	103,953,535 (GRCm39)	missense	probably damaging	0.98
R3683:Acad11	UTSW	9	103,992,543 (GRCm39)	missense	probably damaging	1.00
R3954:Acad11	UTSW	9	103,963,351 (GRCm39)	intron	probably benign
R3956:Acad11	UTSW	9	103,963,351 (GRCm39)	intron	probably benign
R4425:Acad11	UTSW	9	103,950,844 (GRCm39)	missense	probably damaging	1.00
R4557:Acad11	UTSW	9	103,960,038 (GRCm39)	missense	probably benign	0.00
R4701:Acad11	UTSW	9	103,972,764 (GRCm39)	nonsense	probably null
R4764:Acad11	UTSW	9	103,953,076 (GRCm39)	missense	probably damaging	0.99
R4872:Acad11	UTSW	9	103,963,465 (GRCm39)	intron	probably benign
R5132:Acad11	UTSW	9	104,003,791 (GRCm39)	missense	probably benign	0.03
R5161:Acad11	UTSW	9	104,001,227 (GRCm39)	missense	probably benign	0.19
R5222:Acad11	UTSW	9	103,974,576 (GRCm39)	missense	probably damaging	1.00
R5587:Acad11	UTSW	9	103,940,966 (GRCm39)	missense	probably benign
R5683:Acad11	UTSW	9	103,961,482 (GRCm39)	missense	probably damaging	1.00
R6512:Acad11	UTSW	9	103,972,758 (GRCm39)	nonsense	probably null
R6815:Acad11	UTSW	9	103,958,526 (GRCm39)	missense	probably benign	0.01
R7035:Acad11	UTSW	9	103,990,694 (GRCm39)	missense	probably damaging	1.00
R7318:Acad11	UTSW	9	103,958,466 (GRCm39)	missense	probably damaging	1.00
R7564:Acad11	UTSW	9	104,000,288 (GRCm39)	missense	possibly damaging	0.94
R7673:Acad11	UTSW	9	103,941,105 (GRCm39)	splice site	probably null
R7812:Acad11	UTSW	9	103,972,747 (GRCm39)	missense	probably benign	0.41
R7850:Acad11	UTSW	9	103,991,728 (GRCm39)	missense	probably damaging	1.00
R8037:Acad11	UTSW	9	103,953,035 (GRCm39)	missense	possibly damaging	0.93
R8251:Acad11	UTSW	9	103,968,906 (GRCm39)	missense	possibly damaging	0.88
R9021:Acad11	UTSW	9	104,003,864 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AGTAAGCCTCATGCAAATGCC -3'
(R):5'- TGCCACCTAGAGGGGTATTTAAG -3'

Sequencing Primer
(F):5'- GATCATGCTTTAGAGATGGCCTAC -3'
(R):5'- CACCTAGAGGGGTATTTAAGAACAAG -3'

Posted On

2022-10-06