Mutagenetix > Incidental Mutation

Incidental Mutation 'R7318:Acad11'

565660

Institutional Source

Beutler Lab

Gene Symbol

Acad11

Ensembl Gene

ENSMUSG00000090150

Gene Name

acyl-Coenzyme A dehydrogenase family, member 11

Synonyms

5730439E10Rik

MMRRC Submission

045414-MU

Accession Numbers

Essential gene?

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

Stock #

R7318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103940923-104004855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103958466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 245 (T245A)

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: T245A

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

SMART Domains

Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: T245A

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 damaging
Transcript: ENSMUST00000120854
AA Change: T127A

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

SMART Domains

Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: T127A

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 damaging
Transcript: ENSMUST00000189998
AA Change: T245A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (67/67)

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
4930433I11Rik	T	C	7: 40,643,111 (GRCm39)	L260S	probably benign	Het
9130230L23Rik	A	T	5: 66,145,771 (GRCm39)	S113R	unknown	Het
Abcc5	G	A	16: 20,211,293 (GRCm39)	P557S	probably benign	Het
Acap2	A	G	16: 30,946,155 (GRCm39)	F263L	probably damaging	Het
Ankle2	A	T	5: 110,385,632 (GRCm39)	N327I	probably benign	Het
Appl1	T	C	14: 26,685,617 (GRCm39)	E67G	probably benign	Het
Arfgef3	A	T	10: 18,506,211 (GRCm39)	C864S	possibly damaging	Het
Arhgap20	A	G	9: 51,751,802 (GRCm39)	I418V	probably benign	Het
Arhgef2	A	T	3: 88,539,610 (GRCm39)	N102Y	probably damaging	Het
Car9	G	T	4: 43,513,089 (GRCm39)	E431D	probably damaging	Het
Cbfa2t2	T	C	2: 154,342,374 (GRCm39)	I30T	probably benign	Het
Cd40	A	T	2: 164,904,255 (GRCm39)	D34V	possibly damaging	Het
Chrnb2	T	A	3: 89,670,674 (GRCm39)		probably null	Het
Chsy1	T	G	7: 65,759,977 (GRCm39)		probably null	Het
Cpne6	A	G	14: 55,751,751 (GRCm39)	T245A	possibly damaging	Het
Cpsf1	T	A	15: 76,481,475 (GRCm39)	K1159*	probably null	Het
Crisp1	T	A	17: 40,618,668 (GRCm39)	E64D	possibly damaging	Het
D3Ertd751e	A	G	3: 41,756,986 (GRCm39)		probably null	Het
Dennd11	A	G	6: 40,386,098 (GRCm39)	V333A	possibly damaging	Het
Dnah7b	T	A	1: 46,234,532 (GRCm39)	L1488Q	probably damaging	Het
Dnm2	G	A	9: 21,416,863 (GRCm39)	G799R	possibly damaging	Het
Elp2	G	A	18: 24,739,956 (GRCm39)	V61I	probably damaging	Het
Epb41l3	T	C	17: 69,573,135 (GRCm39)	L388P		Het
Fry	A	T	5: 150,360,458 (GRCm39)	S2035C	probably damaging	Het
Gas8	T	C	8: 124,257,707 (GRCm39)	F385L	probably benign	Het
Ghsr	T	C	3: 27,426,616 (GRCm39)	V224A	possibly damaging	Het
Gstp2	T	A	19: 4,091,065 (GRCm39)	R85W	probably benign	Het
Ighv1-20	T	A	12: 114,687,810 (GRCm39)	I6F	possibly damaging	Het
Inpp4b	T	A	8: 82,798,374 (GRCm39)	M854K	probably damaging	Het
Kif15	A	G	9: 122,817,014 (GRCm39)	E538G	probably damaging	Het
Large2	T	C	2: 92,196,373 (GRCm39)	T485A	probably benign	Het
Lmo3	T	A	6: 138,398,363 (GRCm39)		probably benign	Het
Lyg1	G	A	1: 37,988,936 (GRCm39)	P95S	probably benign	Het
Lyst	A	G	13: 13,932,028 (GRCm39)	H3552R	probably benign	Het
Mtif2	C	T	11: 29,490,115 (GRCm39)	S385L	probably benign	Het
Muc4	A	T	16: 32,575,710 (GRCm39)	I1737F	unknown	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Mx1	G	T	16: 97,253,286 (GRCm39)	Q350K	probably benign	Het
Mylk3	G	T	8: 86,085,726 (GRCm39)	D269E	probably benign	Het
Myo3a	A	T	2: 22,448,332 (GRCm39)	K974*	probably null	Het
Nectin4	G	T	1: 171,208,031 (GRCm39)	R141L	probably benign	Het
Nlgn2	T	C	11: 69,716,795 (GRCm39)	H582R	probably damaging	Het
Or51ab3	T	A	7: 103,201,298 (GRCm39)	M102K	probably damaging	Het
Or51e1	T	A	7: 102,359,226 (GRCm39)	Y253*	probably null	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmd11	C	A	11: 80,347,128 (GRCm39)	L171I	probably benign	Het
Rad54l	A	G	4: 115,967,906 (GRCm39)	V152A	possibly damaging	Het
Ranbp2	T	A	10: 58,318,909 (GRCm39)	Y2473*	probably null	Het
Sertad1	T	C	7: 27,188,910 (GRCm39)	I77T	possibly damaging	Het
Sesn3	A	T	9: 14,219,873 (GRCm39)	E87D	probably damaging	Het
Slc30a5	A	T	13: 100,950,477 (GRCm39)	S260R	probably benign	Het
Slc6a12	G	A	6: 121,328,972 (GRCm39)	G111S	probably damaging	Het
Slc6a12	T	C	6: 121,328,978 (GRCm39)	Y113H	probably benign	Het
Spag17	T	G	3: 99,847,299 (GRCm39)	M76R	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Stard13	G	A	5: 150,986,038 (GRCm39)	Q491*	probably null	Het
Synpo2	T	C	3: 122,910,968 (GRCm39)	S226G	probably benign	Het
Tada2b	G	A	5: 36,641,331 (GRCm39)	T24I	probably benign	Het
Tafa1	T	C	6: 96,092,737 (GRCm39)		probably null	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Tnnt1	T	A	7: 4,513,547 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,490,340 (GRCm39)	I196V	probably benign	Het
Utp20	T	A	10: 88,649,811 (GRCm39)	K466N	possibly damaging	Het
Wdr46	T	C	17: 34,160,859 (GRCm39)		probably null	Het
Zfp287	T	A	11: 62,605,104 (GRCm39)	Q601L	probably damaging	Het
Zfp410	T	C	12: 84,372,464 (GRCm39)	S97P	probably benign	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
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
R9657:Acad11	UTSW	9	103,953,035 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTGGCTCTAGACAGTTGATGC -3'
(R):5'- AAGCTTCATAAAACTGCAGGC -3'

Sequencing Primer
(F):5'- GGTTTCTATAAATGAGATGCACCGCC -3'
(R):5'- CAGGCAAATTATGTCTTTAGCTCTGG -3'

Posted On

2019-06-26