Mutagenetix > Incidental Mutation

Incidental Mutation 'R7501:Acad9'

581456

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

045574-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R7501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36120128-36147002 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36142974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 503 (N503S)

Ref Sequence

ENSEMBL: ENSMUSP00000011492 (fasta)

Gene Model

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

AlphaFold

Q8JZN5

Predicted Effect

probably benign
Transcript: ENSMUST00000011492
AA Change: N503S

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

SMART Domains

Protein: ENSMUSP00000011492
Gene: ENSMUSG00000027710
AA Change: N503S

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

probably benign
Transcript: ENSMUST00000197588

SMART Domains

Protein: ENSMUSP00000142995
Gene: ENSMUSG00000027710

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

Meta Mutation Damage Score

0.0699

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	C	T	5: 121,657,011 (GRCm39)	A761T	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd44	T	C	1: 54,688,522 (GRCm39)	E238G		Het
Ap3b2	A	T	7: 81,123,194 (GRCm39)	I440K	probably damaging	Het
Atp2a1	G	A	7: 126,049,344 (GRCm39)	T566I	probably benign	Het
B3galnt1	T	C	3: 69,482,632 (GRCm39)	I210V	probably benign	Het
Bag5	T	C	12: 111,676,722 (GRCm39)	K367R	probably benign	Het
Cdc25b	T	C	2: 131,036,080 (GRCm39)	Y410H	probably damaging	Het
Cgref1	G	T	5: 31,102,800 (GRCm39)	P7Q	probably damaging	Het
Cnot6	T	C	11: 49,576,159 (GRCm39)	I136V	probably benign	Het
Comp	A	G	8: 70,832,059 (GRCm39)	D500G	possibly damaging	Het
Dnah7b	T	C	1: 46,395,714 (GRCm39)	L3872P	probably damaging	Het
Dync2h1	A	T	9: 7,175,336 (GRCm39)	L91Q	possibly damaging	Het
Fancd2	T	C	6: 113,525,364 (GRCm39)	V280A	possibly damaging	Het
Fat4	T	A	3: 39,012,597 (GRCm39)	Y2297*	probably null	Het
Fem1c	A	T	18: 46,638,868 (GRCm39)	M378K	probably damaging	Het
Gata6	A	G	18: 11,054,082 (GRCm39)	T4A	probably damaging	Het
Gatb	G	C	3: 85,544,297 (GRCm39)	V422L	probably damaging	Het
Gfpt1	T	A	6: 87,059,508 (GRCm39)	D510E	probably benign	Het
Gria4	A	T	9: 4,502,436 (GRCm39)	Y366N	probably benign	Het
Gucy1b1	T	C	3: 81,942,666 (GRCm39)	H492R	probably damaging	Het
H2bc6	A	G	13: 23,769,776 (GRCm39)	I55T	possibly damaging	Het
Hecw2	T	C	1: 53,953,031 (GRCm39)		probably null	Het
Hnrnph1	A	C	11: 50,270,383 (GRCm39)	E62D	probably benign	Het
Itga2	A	G	13: 115,012,095 (GRCm39)	V274A	probably damaging	Het
Kdm5d	T	A	Y: 941,488 (GRCm39)	W1230R	probably damaging	Het
Lctl	A	T	9: 64,038,861 (GRCm39)	M317L	probably benign	Het
Lrp6	T	C	6: 134,463,471 (GRCm39)	D570G	probably damaging	Het
Lrrc9	G	T	12: 72,496,490 (GRCm39)	M39I	probably damaging	Het
Ltbp2	A	T	12: 84,877,419 (GRCm39)	I402N	probably damaging	Het
Mst1	G	A	9: 107,959,748 (GRCm39)	G297D	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nbr1	G	A	11: 101,457,026 (GRCm39)	R163Q	probably damaging	Het
Nlrp4f	A	G	13: 65,342,143 (GRCm39)	F501L	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Oacyl	T	G	18: 65,858,369 (GRCm39)		probably null	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Plxna2	C	T	1: 194,326,203 (GRCm39)	R46C	possibly damaging	Het
Ppp1r26	T	A	2: 28,340,749 (GRCm39)	D126E	probably damaging	Het
Prl6a1	A	T	13: 27,500,282 (GRCm39)	R84S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,746 (GRCm39)	Q1279*	probably null	Het
Ptx4	C	T	17: 25,344,166 (GRCm39)	T472I	possibly damaging	Het
Rabgap1l	A	G	1: 160,528,358 (GRCm39)	V416A	probably damaging	Het
Rbfox2	A	T	15: 76,989,834 (GRCm39)	D231E	probably benign	Het
Reln	A	T	5: 22,432,636 (GRCm39)	F121L	possibly damaging	Het
Rfx7	G	A	9: 72,524,054 (GRCm39)	V415I	probably benign	Het
Scaf4	A	T	16: 90,026,964 (GRCm39)	M951K	unknown	Het
Sdf4	T	C	4: 156,080,977 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,331,863 (GRCm39)	T51A	probably damaging	Het
Sema3a	A	G	5: 13,607,008 (GRCm39)	N281S	probably damaging	Het
Snai2	G	A	16: 14,524,754 (GRCm39)	V87I	possibly damaging	Het
Spata31f1e	T	C	4: 42,791,357 (GRCm39)	E925G	probably damaging	Het
Synj2	T	A	17: 6,040,514 (GRCm39)	S197T	possibly damaging	Het
Syt6	A	T	3: 103,495,018 (GRCm39)	M328L	probably benign	Het
Tdrd12	A	G	7: 35,177,516 (GRCm39)	V946A	unknown	Het
Trat1	A	T	16: 48,574,657 (GRCm39)		probably null	Het
Vmn1r75	T	A	7: 11,614,997 (GRCm39)	I243K	possibly damaging	Het
Vmn2r83	G	A	10: 79,327,771 (GRCm39)	C793Y	probably damaging	Het
Wnt9a	G	A	11: 59,219,583 (GRCm39)	G203D	probably damaging	Het
Xrn2	T	C	2: 146,871,676 (GRCm39)	I366T	probably damaging	Het
Zfp280d	A	G	9: 72,269,224 (GRCm39)	D787G	possibly damaging	Het
Zfp706	T	C	15: 37,002,169 (GRCm39)	T53A	probably damaging	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
R0119:Acad9	UTSW	3	36,139,564 (GRCm39)	missense	probably damaging	0.99
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
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'- ATGCCCAGCAGTCATCCTTC -3'
(R):5'- GTCAAGATTTCTGTTCTAAGCCTGG -3'

Sequencing Primer
(F):5'- ACATTTGGTACCCTGCTGCAATG -3'
(R):5'- CTAAGCCTGGTCTCATAGGTG -3'

Posted On

2019-10-17