Mutagenetix > Incidental Mutation

Incidental Mutation 'R0119:Acad9'

20958

Institutional Source

Beutler Lab

Gene Symbol

Acad9

Ensembl Gene

ENSMUSG00000027710

Gene Name

acyl-Coenzyme A dehydrogenase family, member 9

Synonyms

2600017P15Rik, NPD002, C630012L17Rik

MMRRC Submission

038405-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R0119 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

36120128-36147002 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36139564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 388 (V388A)

Ref Sequence

ENSEMBL: ENSMUSP00000011492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011492] [ENSMUST00000197588]

AlphaFold

Q8JZN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000011492
AA Change: V388A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000011492
Gene: ENSMUSG00000027710
AA Change: V388A

Domain	Start	End	E-Value	Type
low complexity region	11	20	N/A	INTRINSIC
Pfam:Acyl-CoA_dh_N	69	177	1.2e-25	PFAM
Pfam:Acyl-CoA_dh_M	181	282	2e-27	PFAM
Pfam:Acyl-CoA_dh_1	294	445	9.6e-42	PFAM
Pfam:Acyl-CoA_dh_2	309	434	3.6e-12	PFAM
Blast:HisKA	448	550	1e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196535

Predicted Effect

probably damaging
Transcript: ENSMUST00000197588
AA Change: V110A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142995
Gene: ENSMUSG00000027710
AA Change: V110A

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_1	16	155	1.9e-37	PFAM
Pfam:Acyl-CoA_dh_2	31	156	8.4e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199794

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199193

Meta Mutation Damage Score

0.5921

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
Abca13	G	A	11: 9,248,076 (GRCm39)	E2608K	probably benign	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adamts18	A	G	8: 114,501,585 (GRCm39)	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,588,015 (GRCm39)	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,559,449 (GRCm39)		probably benign	Het
Arg2	A	G	12: 79,194,386 (GRCm39)	D70G	probably damaging	Het
Cap1	A	T	4: 122,761,492 (GRCm39)	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Caskin2	A	G	11: 115,693,253 (GRCm39)		probably benign	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Cd96	T	C	16: 45,858,942 (GRCm39)		probably benign	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1c	A	T	8: 93,833,345 (GRCm39)		probably benign	Het
Ces1c	A	T	8: 93,834,238 (GRCm39)	L351M	probably benign	Het
Cnih3	T	A	1: 181,282,309 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Cry1	A	G	10: 84,969,104 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Defb13	T	C	8: 22,436,877 (GRCm39)		probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Elmo3	T	C	8: 106,036,400 (GRCm39)	L668S	probably damaging	Het
Elp2	T	C	18: 24,767,466 (GRCm39)	I716T	probably benign	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm6327	T	C	16: 12,579,061 (GRCm39)		noncoding transcript	Het
Gm839	A	T	6: 89,189,362 (GRCm39)		noncoding transcript	Het
Gng5	T	A	3: 146,209,048 (GRCm39)	C39S	probably damaging	Het
Gpr55	C	T	1: 85,869,146 (GRCm39)	W145*	probably null	Het
Hdlbp	A	C	1: 93,349,059 (GRCm39)		probably benign	Het
Man2a2	G	T	7: 80,017,153 (GRCm39)	N305K	probably damaging	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mier3	T	C	13: 111,851,572 (GRCm39)	V490A	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Mug2	T	A	6: 122,013,022 (GRCm39)	H311Q	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nisch	A	G	14: 30,893,881 (GRCm39)	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,360,252 (GRCm39)		probably null	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Pcdh15	T	C	10: 74,006,407 (GRCm39)	F95S	probably damaging	Het
Pcsk6	T	C	7: 65,688,791 (GRCm39)	V820A	probably benign	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,201,924 (GRCm39)	V496E	probably benign	Het
Per3	A	G	4: 151,109,005 (GRCm39)		probably benign	Het
Pip4k2b	A	T	11: 97,613,762 (GRCm39)		probably benign	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Rad21	A	T	15: 51,828,426 (GRCm39)	D547E	probably benign	Het
Rere	T	G	4: 150,699,779 (GRCm39)		probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Sh3bgrl3	A	T	4: 133,855,347 (GRCm39)	I33N	probably damaging	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Sppl3	T	A	5: 115,227,053 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,223,605 (GRCm39)	Q116K	probably damaging	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,921 (GRCm39)	V477A	possibly damaging	Het
Trim7	G	T	11: 48,740,539 (GRCm39)	R212L	probably damaging	Het
Trpm6	T	A	19: 18,809,957 (GRCm39)	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,275,723 (GRCm39)	E361G	probably benign	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Acad9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Acad9	APN	3	36,123,911 (GRCm39)	missense	probably benign	0.06
IGL01161:Acad9	APN	3	36,144,274 (GRCm39)	missense	possibly damaging	0.93
IGL02016:Acad9	APN	3	36,142,635 (GRCm39)	critical splice acceptor site	probably null
IGL02100:Acad9	APN	3	36,136,029 (GRCm39)	missense	probably null	1.00
R0098:Acad9	UTSW	3	36,127,689 (GRCm39)	missense	probably damaging	1.00
R0098:Acad9	UTSW	3	36,127,689 (GRCm39)	missense	probably damaging	1.00
R0499:Acad9	UTSW	3	36,139,564 (GRCm39)	missense	probably damaging	0.99
R1444:Acad9	UTSW	3	36,132,657 (GRCm39)	missense	possibly damaging	0.80
R1564:Acad9	UTSW	3	36,143,578 (GRCm39)	missense	possibly damaging	0.53
R2013:Acad9	UTSW	3	36,127,737 (GRCm39)	missense	probably damaging	0.97
R2113:Acad9	UTSW	3	36,128,525 (GRCm39)	missense	probably damaging	1.00
R2412:Acad9	UTSW	3	36,127,740 (GRCm39)	missense	probably benign	0.26
R2428:Acad9	UTSW	3	36,145,072 (GRCm39)	missense	probably benign
R4214:Acad9	UTSW	3	36,127,752 (GRCm39)	missense	probably damaging	0.99
R4291:Acad9	UTSW	3	36,120,337 (GRCm39)	missense	probably benign	0.14
R4562:Acad9	UTSW	3	36,120,331 (GRCm39)	missense	probably benign	0.31
R4679:Acad9	UTSW	3	36,142,989 (GRCm39)	missense	possibly damaging	0.79
R4758:Acad9	UTSW	3	36,127,754 (GRCm39)	missense	probably damaging	1.00
R4953:Acad9	UTSW	3	36,128,525 (GRCm39)	missense	probably damaging	1.00
R4970:Acad9	UTSW	3	36,139,674 (GRCm39)	missense	probably damaging	1.00
R5137:Acad9	UTSW	3	36,123,920 (GRCm39)	missense	probably benign	0.28
R5171:Acad9	UTSW	3	36,128,547 (GRCm39)	missense	possibly damaging	0.94
R5956:Acad9	UTSW	3	36,129,323 (GRCm39)	unclassified	probably benign
R6285:Acad9	UTSW	3	36,136,324 (GRCm39)	missense	probably benign	0.01
R6620:Acad9	UTSW	3	36,120,294 (GRCm39)	missense	possibly damaging	0.93
R6880:Acad9	UTSW	3	36,123,854 (GRCm39)	splice site	probably null
R6995:Acad9	UTSW	3	36,139,630 (GRCm39)	missense	probably damaging	1.00
R7286:Acad9	UTSW	3	36,130,139 (GRCm39)	missense	probably damaging	1.00
R7501:Acad9	UTSW	3	36,142,974 (GRCm39)	missense	probably benign
R7705:Acad9	UTSW	3	36,142,675 (GRCm39)	missense	probably benign
R8072:Acad9	UTSW	3	36,129,404 (GRCm39)	missense	probably benign	0.12
R8166:Acad9	UTSW	3	36,144,232 (GRCm39)	missense	probably benign	0.03
R8199:Acad9	UTSW	3	36,139,572 (GRCm39)	missense	probably damaging	1.00
R8815:Acad9	UTSW	3	36,139,590 (GRCm39)	missense	probably damaging	1.00
R8985:Acad9	UTSW	3	36,141,860 (GRCm39)	intron	probably benign
R9682:Acad9	UTSW	3	36,136,268 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCATGCTGGGATAGAGCACACAGG -3'
(R):5'- TACAGGGACATCATCACTGAGGGG -3'

Sequencing Primer
(F):5'- ACACAGGCTGGTGTATCCTAC -3'
(R):5'- CATCATCACTGAGGGGGTATACAAG -3'

Posted On

2013-04-11