Mutagenetix > Incidental Mutations

Incidental Mutation 'ANU22:Aco2'

262606

Institutional Source

Beutler Lab

Gene Symbol

Aco2

Ensembl Gene

ENSMUSG00000022477

Gene Name

aconitase 2, mitochondrial

Synonyms

Aco-2, Aco3, D10Wsu183e

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

ANU22

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

81872309-81915133 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81913714 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 663 (E663G)

Ref Sequence

ENSEMBL: ENSMUSP00000023116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023113] [ENSMUST00000023116] [ENSMUST00000230050]

Predicted Effect

probably benign
Transcript: ENSMUST00000023113

SMART Domains

Protein: ENSMUSP00000023113
Gene: ENSMUSG00000022476

Domain	Start	End	E-Value	Type
Pfam:SHS2_Rpb7-N	8	77	7.1e-23	PFAM
Pfam:RNA_pol_Rbc25	79	201	2.4e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023116
AA Change: E663G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477
AA Change: E663G

Domain	Start	End	E-Value	Type
Pfam:Aconitase	65	503	2.2e-160	PFAM
Pfam:Aconitase_C	582	712	5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229402

Predicted Effect

probably benign
Transcript: ENSMUST00000230050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230842

Coding Region Coverage

1x: 98.7%
3x: 98.1%
10x: 96.2%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 55,871,844	H525L	probably benign	Het
Adamts2	A	G	11: 50,737,363	N297D	probably benign	Het
Adamts6	T	A	13: 104,390,082	V506E	probably damaging	Het
Ankfy1	G	A	11: 72,764,791	E1101K	probably damaging	Het
Arap3	C	T	18: 37,991,327		probably null	Het
Asxl3	T	A	18: 22,516,446	H497Q	probably benign	Het
Caln1	A	G	5: 130,669,551	E96G	probably damaging	Het
Cdh23	T	C	10: 60,312,624	T2653A	probably damaging	Het
Cdk5rap2	T	A	4: 70,380,235	I87F	possibly damaging	Het
Crybg3	T	A	16: 59,529,227	H934L	probably damaging	Het
Cyp2d22	G	A	15: 82,371,668	T461I	probably damaging	Het
Dhcr24	T	C	4: 106,572,278	F183L	possibly damaging	Het
Dusp16	A	T	6: 134,718,861	S336T	probably benign	Het
F930017D23Rik	T	G	10: 43,604,375		noncoding transcript	Het
Fasl	A	G	1: 161,781,838	V193A	probably damaging	Het
Fgf5	T	C	5: 98,275,316	Y187H	probably damaging	Het
Focad	C	A	4: 88,393,547	Q1423K	probably benign	Het
Gabrp	T	C	11: 33,555,055	T249A	probably damaging	Het
Galnt5	A	T	2: 58,025,342	K637*	probably null	Het
Grm6	A	T	11: 50,859,519	D503V	probably benign	Het
Hmg20a	A	T	9: 56,487,650	D216V	probably damaging	Het
Lyst	C	T	13: 13,678,056	R2214C	probably benign	Het
Micu2	T	A	14: 57,943,625	D184V	probably damaging	Het
Nabp2	T	A	10: 128,408,762	I52F	probably damaging	Het
Nat8f7	A	T	6: 85,707,588	L90*	probably null	Het
Olfr1297	T	C	2: 111,621,201	N291S	probably damaging	Het
Olfr30	A	T	11: 58,455,262	M229K	probably damaging	Het
Pphln1	A	G	15: 93,489,104	E273G	probably damaging	Het
Ppil1	C	A	17: 29,263,888	V14F	possibly damaging	Het
Ptprd	C	A	4: 76,100,456	D694Y	probably damaging	Het
Relt	A	T	7: 100,851,698	L28Q	probably damaging	Het
Sptbn4	G	A	7: 27,357,387	R2525*	probably null	Het
St8sia5	G	A	18: 77,254,662	G320D	probably damaging	Het
Taf2	T	C	15: 55,048,274	E582G	probably damaging	Het
Tas2r116	T	A	6: 132,855,443	N2K	probably benign	Het
Tedc1	C	T	12: 113,163,188	R357*	probably null	Het
Tmem168	A	T	6: 13,583,046	V612E	probably damaging	Het
Unc79	A	G	12: 103,001,871	S119G	probably damaging	Het
Washc5	T	A	15: 59,355,839	K425*	probably null	Het
Wdr61	C	A	9: 54,728,186	V44L	probably damaging	Het
Wtap	G	T	17: 12,967,895	T255K	probably benign	Het
Zfp148	T	C	16: 33,456,943	V134A	probably benign	Het
Zfp397	C	T	18: 23,960,751	S431L	probably damaging	Het

Other mutations in Aco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Aco2	APN	15	81913714	missense	possibly damaging	0.88
IGL02450:Aco2	APN	15	81914762	makesense	probably null
IGL03408:Aco2	APN	15	81899223	critical splice donor site	probably null
R0066:Aco2	UTSW	15	81903465	splice site	probably benign
R0066:Aco2	UTSW	15	81903465	splice site	probably benign
R0254:Aco2	UTSW	15	81889356	missense	probably damaging	0.99
R0408:Aco2	UTSW	15	81913118	splice site	probably null
R0535:Aco2	UTSW	15	81913217	missense	possibly damaging	0.76
R0839:Aco2	UTSW	15	81907535	splice site	probably null
R1199:Aco2	UTSW	15	81895193	missense	probably damaging	1.00
R1201:Aco2	UTSW	15	81895193	missense	probably damaging	1.00
R1320:Aco2	UTSW	15	81895193	missense	probably damaging	1.00
R1321:Aco2	UTSW	15	81895193	missense	probably damaging	1.00
R1322:Aco2	UTSW	15	81895193	missense	probably damaging	1.00
R2082:Aco2	UTSW	15	81913695	missense	possibly damaging	0.83
R2275:Aco2	UTSW	15	81895264	missense	probably benign	0.37
R2297:Aco2	UTSW	15	81903908	missense	probably damaging	1.00
R4414:Aco2	UTSW	15	81889383	splice site	probably null
R4497:Aco2	UTSW	15	81895285	missense	probably damaging	1.00
R4498:Aco2	UTSW	15	81895285	missense	probably damaging	1.00
R4708:Aco2	UTSW	15	81909916	critical splice donor site	probably null
R5556:Aco2	UTSW	15	81889319	missense	probably damaging	1.00
R5568:Aco2	UTSW	15	81903586	missense	probably damaging	0.99
R6103:Aco2	UTSW	15	81913251	missense	probably benign	0.00
R6912:Aco2	UTSW	15	81895396	missense	probably benign
R7319:Aco2	UTSW	15	81903619	missense	probably damaging	1.00
R7552:Aco2	UTSW	15	81903941	missense	probably damaging	1.00
R7585:Aco2	UTSW	15	81872484	unclassified	probably benign
Z1177:Aco2	UTSW	15	81895310	missense	probably damaging	1.00
Z1177:Aco2	UTSW	15	81895312	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACATGCTGAGACTCATCTGACTCCC -3'
(R):5'- TTTCCACAGTAGCACTCCAAGCAG -3'

Sequencing Primer
(F):5'- CCTGGGTGTTGGGATAGCAATT -3'
(R):5'- GCTATGAAATATGGCCGACTCC -3'

Posted On

2015-02-04