Mutagenetix > Incidental Mutation

Incidental Mutation 'R4701:Acad11'

356051

Institutional Source

Beutler Lab

Gene Symbol

Acad11

Ensembl Gene

ENSMUSG00000090150

Gene Name

acyl-Coenzyme A dehydrogenase family, member 11

Synonyms

5730439E10Rik

MMRRC Submission

041949-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R4701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104063377-104127725 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 104095565 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 486 (Q486*)

Ref Sequence

ENSEMBL: ENSMUSP00000141064 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000047799
AA Change: Q486*

SMART Domains

Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: Q486*

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 null
Transcript: ENSMUST00000120854
AA Change: Q368*

SMART Domains

Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: Q368*

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 null
Transcript: ENSMUST00000189998
AA Change: Q486*

Predicted Effect

probably benign
Transcript: ENSMUST00000219146

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	C	11: 101,411,160 (GRCm38)	I196V	probably benign	Het
Aass	T	A	6: 23,075,856 (GRCm38)	K761*	probably null	Het
Abca13	A	G	11: 9,292,306 (GRCm38)	T1390A	possibly damaging	Het
Abhd16a	T	C	17: 35,096,606 (GRCm38)		probably null	Het
Actl9	T	C	17: 33,433,935 (GRCm38)	L323P	probably benign	Het
Adam12	T	A	7: 133,916,462 (GRCm38)	I650F	possibly damaging	Het
Adgre4	A	T	17: 55,784,971 (GRCm38)	D77V	probably damaging	Het
Ankrd26	A	G	6: 118,506,485 (GRCm38)	F1586S	possibly damaging	Het
Anpep	T	C	7: 79,839,465 (GRCm38)	T320A	probably benign	Het
Arl15	T	A	13: 113,967,725 (GRCm38)	C133S	probably benign	Het
Ascc3	A	G	10: 50,720,664 (GRCm38)	N1230S	possibly damaging	Het
Atf4	T	A	15: 80,257,417 (GRCm38)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,000,121 (GRCm38)	S1044T	probably benign	Het
Atp8b4	A	G	2: 126,414,293 (GRCm38)	F249L	probably damaging	Het
AU021092	G	T	16: 5,212,193 (GRCm38)	N319K	probably benign	Het
Bbs4	A	G	9: 59,323,519 (GRCm38)	V440A	probably benign	Het
Bpifb4	G	T	2: 153,950,385 (GRCm38)	G450C	probably damaging	Het
Cadm1	G	A	9: 47,818,822 (GRCm38)		probably benign	Het
Ccser2	G	A	14: 36,938,697 (GRCm38)	L500F	probably damaging	Het
Cd22	T	A	7: 30,876,153 (GRCm38)	I155F	probably damaging	Het
Cdkl4	A	T	17: 80,543,652 (GRCm38)	V207E	probably damaging	Het
Cfap251	A	G	5: 123,322,613 (GRCm38)	K1213E	probably benign	Het
Cfap65	T	C	1: 74,918,908 (GRCm38)	D947G	probably damaging	Het
Cntn6	T	C	6: 104,804,360 (GRCm38)	V397A	probably benign	Het
Cpox	T	A	16: 58,677,969 (GRCm38)	Y388*	probably null	Het
Dab1	C	T	4: 104,731,751 (GRCm38)	A524V	probably benign	Het
Dda1	T	A	8: 71,473,810 (GRCm38)	Y58N	probably damaging	Het
Dennd4a	C	T	9: 64,897,357 (GRCm38)	T1326I	possibly damaging	Het
Eps8l2	A	T	7: 141,357,260 (GRCm38)	I338F	probably damaging	Het
Fbxo42	A	G	4: 141,199,809 (GRCm38)	T467A	probably benign	Het
Flt4	T	C	11: 49,626,808 (GRCm38)	F319S	possibly damaging	Het
Fmn1	A	T	2: 113,584,071 (GRCm38)	Y895F	possibly damaging	Het
Gm6887	C	A	7: 42,465,093 (GRCm38)		noncoding transcript	Het
Grid2	A	G	6: 64,665,915 (GRCm38)	D887G	probably benign	Het
Grm6	C	T	11: 50,863,010 (GRCm38)	P714S	probably damaging	Het
Gsto2	A	G	19: 47,884,656 (GRCm38)	I157V	probably benign	Het
Il15ra	A	G	2: 11,718,345 (GRCm38)		probably null	Het
Impg1	A	G	9: 80,314,400 (GRCm38)	F713L	probably benign	Het
Jag1	T	A	2: 137,094,456 (GRCm38)	T373S	probably benign	Het
Kcnh3	T	A	15: 99,241,945 (GRCm38)	L904Q	probably benign	Het
Kctd19	C	A	8: 105,390,429 (GRCm38)	G356V	possibly damaging	Het
Kdm5b	T	A	1: 134,606,012 (GRCm38)		probably benign	Het
Kif1a	T	C	1: 93,078,835 (GRCm38)	I37V	probably damaging	Het
Lama5	G	A	2: 180,191,696 (GRCm38)	R1508C	probably damaging	Het
Lamb1	T	A	12: 31,266,848 (GRCm38)	C65*	probably null	Het
Lingo1	A	G	9: 56,620,258 (GRCm38)	F349S	probably damaging	Het
Loxl4	G	A	19: 42,607,613 (GRCm38)	H147Y	probably benign	Het
Lrrn4cl	T	A	19: 8,852,055 (GRCm38)	N132K	probably damaging	Het
Med17	A	T	9: 15,270,360 (GRCm38)	H31Q	probably damaging	Het
Med23	A	T	10: 24,893,648 (GRCm38)	L476F	probably damaging	Het
Mgst1	A	T	6: 138,150,838 (GRCm38)	D66V	probably damaging	Het
Mroh2a	A	C	1: 88,241,618 (GRCm38)	I672L	probably benign	Het
Mroh2a	T	C	1: 88,234,612 (GRCm38)		probably null	Het
Muc4	A	T	16: 32,755,846 (GRCm38)		probably benign	Het
Myo18a	C	T	11: 77,817,665 (GRCm38)	T30M	probably damaging	Het
Ncapg2	G	T	12: 116,440,618 (GRCm38)	R903L	probably benign	Het
Nme1	A	G	11: 93,965,908 (GRCm38)	I9T	probably damaging	Het
Nmt2	T	A	2: 3,322,641 (GRCm38)	I357N	probably benign	Het
Nphp4	T	C	4: 152,496,659 (GRCm38)	F100S	probably damaging	Het
Oca2	C	A	7: 56,255,002 (GRCm38)	T72K	probably benign	Het
Olfr625-ps1	G	A	7: 103,683,062 (GRCm38)	V105M	probably damaging	Het
Or52e4	A	T	7: 105,056,879 (GRCm38)	D211V	probably damaging	Het
Or52e7	A	T	7: 105,035,591 (GRCm38)	D131V	probably damaging	Het
Or7h8	T	C	9: 20,212,625 (GRCm38)	I92T	probably damaging	Het
Or9s15	C	A	1: 92,597,438 (GRCm38)	D306E	probably benign	Het
Plce1	A	T	19: 38,725,007 (GRCm38)	T1240S	probably benign	Het
Plch1	A	T	3: 63,699,496 (GRCm38)		probably null	Het
Plxna4	T	C	6: 32,516,688 (GRCm38)	D331G	probably damaging	Het
Ppp1r3a	T	C	6: 14,718,993 (GRCm38)	T641A	probably benign	Het
Rab32	A	G	10: 10,550,854 (GRCm38)	L116P	probably benign	Het
Recql4	C	T	15: 76,708,585 (GRCm38)	C302Y	probably damaging	Het
Rorc	G	C	3: 94,391,710 (GRCm38)	E391Q	probably null	Het
Saa4	A	T	7: 46,731,627 (GRCm38)	F24I	possibly damaging	Het
Sall1	T	A	8: 89,031,160 (GRCm38)	K772M	probably damaging	Het
Sdk1	T	G	5: 142,185,231 (GRCm38)	L1950V	probably damaging	Het
Sil1	T	C	18: 35,266,896 (GRCm38)	E352G	probably benign	Het
Slc26a3	C	T	12: 31,447,774 (GRCm38)	P59L	probably damaging	Het
Smco2	T	C	6: 146,861,942 (GRCm38)		probably benign	Het
Sppl3	A	G	5: 115,103,313 (GRCm38)		probably null	Het
St6gal2	T	A	17: 55,496,344 (GRCm38)	V360D	probably damaging	Het
Stard9	G	A	2: 120,705,713 (GRCm38)	R345Q	possibly damaging	Het
Susd4	T	A	1: 182,892,061 (GRCm38)	Y414N	probably damaging	Het
Tenm4	T	C	7: 96,895,349 (GRCm38)	Y2191H	probably damaging	Het
Tln2	A	G	9: 67,346,527 (GRCm38)	V754A	probably benign	Het
Tmem132c	T	A	5: 127,564,496 (GRCm38)		probably benign	Het
Tnn	A	T	1: 160,147,768 (GRCm38)	S30T	possibly damaging	Het
Trpd52l3	G	T	19: 30,004,495 (GRCm38)	V217F	probably damaging	Het
Trpm1	G	T	7: 64,243,500 (GRCm38)	L1033F	probably damaging	Het
Tulp2	A	G	7: 45,517,924 (GRCm38)	E182G	probably damaging	Het
Ubr4	A	G	4: 139,471,336 (GRCm38)	K4490R	possibly damaging	Het
Usp17la	A	T	7: 104,860,649 (GRCm38)	R154*	probably null	Het
Vmn2r17	T	G	5: 109,427,983 (GRCm38)	M240R	probably damaging	Het
Vmn2r22	T	A	6: 123,650,469 (GRCm38)	N56I	probably benign	Het
Zdhhc21	A	T	4: 82,820,334 (GRCm38)	I206N	possibly damaging	Het
Zfp148	T	A	16: 33,456,908 (GRCm38)	D122E	probably benign	Het
Zfp804a	A	T	2: 82,256,582 (GRCm38)	S252C	probably damaging	Het
Zgrf1	C	T	3: 127,598,704 (GRCm38)	T1291I	probably benign	Het

Other mutations in Acad11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Acad11	APN	9	104,126,656 (GRCm38)	missense	probably damaging	1.00
IGL01100:Acad11	APN	9	104,076,408 (GRCm38)	missense	probably damaging	0.98
IGL01920:Acad11	APN	9	104,063,905 (GRCm38)	critical splice donor site	probably null
IGL02019:Acad11	APN	9	104,115,345 (GRCm38)	missense	probably damaging	1.00
IGL02506:Acad11	APN	9	104,091,732 (GRCm38)	critical splice donor site	probably null
IGL02742:Acad11	APN	9	104,095,625 (GRCm38)	missense	probably damaging	1.00
IGL02830:Acad11	APN	9	104,075,919 (GRCm38)	missense	probably damaging	1.00
IGL02936:Acad11	APN	9	104,113,512 (GRCm38)	missense	probably benign	0.31
R0092:Acad11	UTSW	9	104,090,341 (GRCm38)	splice site	probably benign
R0277:Acad11	UTSW	9	104,124,025 (GRCm38)	missense	probably damaging	1.00
R0377:Acad11	UTSW	9	104,081,692 (GRCm38)	splice site	probably benign
R0411:Acad11	UTSW	9	104,116,296 (GRCm38)	missense	probably damaging	1.00
R0556:Acad11	UTSW	9	104,115,302 (GRCm38)	missense	probably damaging	1.00
R0594:Acad11	UTSW	9	104,095,563 (GRCm38)	missense	probably benign	0.09
R0688:Acad11	UTSW	9	104,124,100 (GRCm38)	missense	probably damaging	1.00
R1416:Acad11	UTSW	9	104,073,623 (GRCm38)	missense	probably damaging	0.96
R1551:Acad11	UTSW	9	104,126,586 (GRCm38)	missense	probably damaging	0.99
R1730:Acad11	UTSW	9	104,063,882 (GRCm38)	missense	probably benign	0.02
R1819:Acad11	UTSW	9	104,114,539 (GRCm38)	critical splice donor site	probably null
R1884:Acad11	UTSW	9	104,114,485 (GRCm38)	missense	probably benign	0.13
R2411:Acad11	UTSW	9	104,086,023 (GRCm38)	intron	probably benign
R3055:Acad11	UTSW	9	104,076,336 (GRCm38)	missense	probably damaging	0.98
R3683:Acad11	UTSW	9	104,115,344 (GRCm38)	missense	probably damaging	1.00
R3954:Acad11	UTSW	9	104,086,152 (GRCm38)	intron	probably benign
R3956:Acad11	UTSW	9	104,086,152 (GRCm38)	intron	probably benign
R4425:Acad11	UTSW	9	104,073,645 (GRCm38)	missense	probably damaging	1.00
R4557:Acad11	UTSW	9	104,082,839 (GRCm38)	missense	probably benign	0.00
R4764:Acad11	UTSW	9	104,075,877 (GRCm38)	missense	probably damaging	0.99
R4872:Acad11	UTSW	9	104,086,266 (GRCm38)	intron	probably benign
R5132:Acad11	UTSW	9	104,126,592 (GRCm38)	missense	probably benign	0.03
R5161:Acad11	UTSW	9	104,124,028 (GRCm38)	missense	probably benign	0.19
R5222:Acad11	UTSW	9	104,097,377 (GRCm38)	missense	probably damaging	1.00
R5587:Acad11	UTSW	9	104,063,767 (GRCm38)	missense	probably benign
R5683:Acad11	UTSW	9	104,084,283 (GRCm38)	missense	probably damaging	1.00
R6512:Acad11	UTSW	9	104,095,559 (GRCm38)	nonsense	probably null
R6815:Acad11	UTSW	9	104,081,327 (GRCm38)	missense	probably benign	0.01
R7035:Acad11	UTSW	9	104,113,495 (GRCm38)	missense	probably damaging	1.00
R7318:Acad11	UTSW	9	104,081,267 (GRCm38)	missense	probably damaging	1.00
R7564:Acad11	UTSW	9	104,123,089 (GRCm38)	missense	possibly damaging	0.94
R7673:Acad11	UTSW	9	104,063,906 (GRCm38)	splice site	probably null
R7812:Acad11	UTSW	9	104,095,548 (GRCm38)	missense	probably benign	0.41
R7850:Acad11	UTSW	9	104,114,529 (GRCm38)	missense	probably damaging	1.00
R8037:Acad11	UTSW	9	104,075,836 (GRCm38)	missense	possibly damaging	0.93
R8251:Acad11	UTSW	9	104,091,707 (GRCm38)	missense	possibly damaging	0.88
R9021:Acad11	UTSW	9	104,126,665 (GRCm38)	missense	possibly damaging	0.88
R9657:Acad11	UTSW	9	104,075,836 (GRCm38)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CGAATGCCACGTAGTACAGC -3'
(R):5'- CACAATTTCTGGCTGTAGGC -3'

Sequencing Primer
(F):5'- CGTAGTACAGCATCACCATTAAATG -3'
(R):5'- AGGCAAAGTTGGCTACAG -3'

Posted On

2015-10-21