Mutagenetix > Incidental Mutations

Incidental Mutation 'R4557:Acad11'

341909

Institutional Source

Beutler Lab

Gene Symbol

Acad11

Ensembl Gene

ENSMUSG00000090150

Gene Name

acyl-Coenzyme A dehydrogenase family, member 11

Synonyms

5730439E10Rik

MMRRC Submission

041784-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R4557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104063377-104127725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104082839 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 219 (F219L)

Ref Sequence

ENSEMBL: ENSMUSP00000112994 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047799
AA Change: F337L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: F337L

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: ENSMUST00000120854
AA Change: F219L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: F219L

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: ENSMUST00000189998
AA Change: F337L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.1384

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (49/50)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830005F24Rik	T	C	13: 48,514,461		probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adamts17	A	T	7: 67,027,893	E518D	probably damaging	Het
Adamts3	A	G	5: 89,700,487	Y659H	probably benign	Het
Adgrb3	T	C	1: 25,084,279	R1414G	probably damaging	Het
Apba1	T	A	19: 23,917,592	I464N	probably damaging	Het
Bahcc1	A	G	11: 120,275,088	T1057A	probably damaging	Het
Bcl11a	A	G	11: 24,164,004	E449G	probably damaging	Het
Ccdc162	T	A	10: 41,587,388	I1453L	probably benign	Het
Ccdc175	T	A	12: 72,128,306	E531V	probably benign	Het
Cep68	A	T	11: 20,239,113		probably benign	Het
Dlgap1	C	A	17: 70,516,689	T223K	probably benign	Het
Exoc1	G	A	5: 76,561,443	V24M	probably damaging	Het
Fbxo4	A	G	15: 3,965,705	*386R	probably null	Het
Gm10100	G	A	10: 77,726,531		probably benign	Het
Gpr149	A	G	3: 62,530,870	V622A	probably damaging	Het
Gpr149	A	C	3: 62,604,497	M27R	probably benign	Het
Ighv3-6	T	C	12: 114,288,198	N101D	probably benign	Het
Igkv4-78	A	G	6: 69,059,771	S93P	possibly damaging	Het
Kmt2c	A	T	5: 25,300,315	W3332R	probably damaging	Het
Marf1	T	C	16: 14,153,977		probably benign	Het
Mcrs1	A	G	15: 99,243,147	I459T	probably benign	Het
Mdn1	G	T	4: 32,754,437	C4646F	probably damaging	Het
Med17	T	C	9: 15,271,697	K351E	possibly damaging	Het
Nalcn	T	C	14: 123,321,235		probably benign	Het
Olfr389	G	A	11: 73,776,481	T282I	possibly damaging	Het
Olfr398	A	T	11: 73,984,599	V3E	probably benign	Het
Olfr761	C	A	17: 37,952,251	A258S	probably benign	Het
Olfr816	A	G	10: 129,911,529	Y250H	probably damaging	Het
Phrf1	C	T	7: 141,258,929		probably benign	Het
Pitpnm1	A	G	19: 4,103,085	Q135R	probably benign	Het
Prdm16	T	A	4: 154,528,827	M48L	probably benign	Het
Ptpn13	A	G	5: 103,541,110	E923G	probably damaging	Het
Rp1	A	T	1: 4,344,663	S2075R	possibly damaging	Het
Sft2d2	A	G	1: 165,183,984	C114R	probably damaging	Het
Sipa1l2	T	G	8: 125,464,415	R945S	probably damaging	Het
Slc12a1	A	G	2: 125,186,641	N517S	probably damaging	Het
Slc44a2	T	G	9: 21,346,783	L443R	possibly damaging	Het
Smok4a	T	C	17: 13,526,381		noncoding transcript	Het
Snx18	A	G	13: 113,617,828	S190P	probably damaging	Het
Thap12	A	G	7: 98,715,845	N407D	probably benign	Het
Tmc5	T	C	7: 118,670,733	I902T	probably benign	Het
Ttc27	T	G	17: 74,829,549	S584A	probably benign	Het
Ttn	A	T	2: 76,949,015	Y1174N	probably damaging	Het
Zbtb44	T	G	9: 31,064,248	S391R	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGACTGACGTCTGGAGTC -3'
(R):5'- AACTATCCTGACTGGCAAAGC -3'

Sequencing Primer
(F):5'- GGAGTCCGTGAATTTAGTTCCCC -3'
(R):5'- CCTAGTCTGGGCAGAGATATCATTTC -3'

Posted On

2015-09-24