Mutagenetix > Incidental Mutation

Incidental Mutation 'R9039:Aco2'

723566

Institutional Source

Beutler Lab

Gene Symbol

Aco2

Ensembl Gene

ENSMUSG00000022477

Gene Name

aconitase 2, mitochondrial

Synonyms

Aco3, Irp1, D10Wsu183e, Aco-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R9039 (G1)

Quality Score

46.0072

Status

Validated

Chromosome

Chromosomal Location

81756664-81799338 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to G at 81756620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023116] [ENSMUST00000023117] [ENSMUST00000135198] [ENSMUST00000157003] [ENSMUST00000229068] [ENSMUST00000231091]

AlphaFold

Q99KI0

Predicted Effect

probably benign
Transcript: ENSMUST00000023116

SMART Domains

Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023117

SMART Domains

Protein: ENSMUSP00000023117
Gene: ENSMUSG00000061360

Domain	Start	End	E-Value	Type
Pfam:PHF5	1	104	1.8e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135198

Predicted Effect

probably benign
Transcript: ENSMUST00000157003

Predicted Effect

probably benign
Transcript: ENSMUST00000229068

Predicted Effect

probably benign
Transcript: ENSMUST00000231091

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,213,849 (GRCm39)	V692A	possibly damaging	Het
Adcy10	T	C	1: 165,345,914 (GRCm39)	I321T	probably damaging	Het
Agbl2	C	T	2: 90,645,730 (GRCm39)	T821I	probably benign	Het
Alpk1	A	G	3: 127,473,192 (GRCm39)	L937P	probably damaging	Het
Atp5f1b	A	G	10: 127,919,767 (GRCm39)	D45G	probably benign	Het
C8a	C	T	4: 104,679,200 (GRCm39)	R530H	probably benign	Het
Cacna1s	T	C	1: 136,016,057 (GRCm39)	S694P	probably benign	Het
Cdca7	T	A	2: 72,312,856 (GRCm39)	D162E	probably benign	Het
Cep78	G	T	19: 15,936,907 (GRCm39)	Q600K	probably benign	Het
Cert1	C	T	13: 96,679,717 (GRCm39)	P16S	probably benign	Het
Coq8b	A	C	7: 26,950,011 (GRCm39)	R363S	probably benign	Het
Cpne3	A	T	4: 19,540,770 (GRCm39)	C202S	probably damaging	Het
Csmd3	G	T	15: 47,483,308 (GRCm39)		probably benign	Het
Cyp4a14	A	T	4: 115,344,461 (GRCm39)	V468E	probably damaging	Het
Dchs1	A	T	7: 105,405,215 (GRCm39)	D2442E	probably benign	Het
Dip2a	T	C	10: 76,163,553 (GRCm39)	Y49C	probably benign	Het
Dop1a	A	G	9: 86,382,870 (GRCm39)	R268G	probably damaging	Het
Eid3	C	T	10: 82,703,565 (GRCm39)	S342L	possibly damaging	Het
Ezh2	A	G	6: 47,528,671 (GRCm39)	L296P	possibly damaging	Het
Fgfrl1	G	C	5: 108,853,439 (GRCm39)		probably null	Het
Flg2	A	G	3: 93,110,899 (GRCm39)	R976G	unknown	Het
Fsip2	C	A	2: 82,828,545 (GRCm39)	Q6781K	probably benign	Het
Golga3	C	T	5: 110,352,799 (GRCm39)	H857Y	probably benign	Het
Hmcn2	T	A	2: 31,244,646 (GRCm39)	V701E	probably damaging	Het
Il21	A	T	3: 37,286,602 (GRCm39)	I38N	probably benign	Het
Ip6k2	G	T	9: 108,681,807 (GRCm39)	G246V	probably damaging	Het
Ipo13	T	C	4: 117,758,185 (GRCm39)	Q726R	probably damaging	Het
Itsn1	A	T	16: 91,703,658 (GRCm39)	N1521Y	unknown	Het
Kif2b	A	G	11: 91,467,131 (GRCm39)	V384A	possibly damaging	Het
L3mbtl1	G	T	2: 162,807,988 (GRCm39)	R541L	probably damaging	Het
Lama3	T	A	18: 12,614,120 (GRCm39)	C1296*	probably null	Het
Lars1	T	C	18: 42,390,234 (GRCm39)	D11G	probably damaging	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Mmp27	C	A	9: 7,581,250 (GRCm39)	F478L	probably benign	Het
Moxd1	T	A	10: 24,155,251 (GRCm39)		probably benign	Het
Naaa	T	A	5: 92,420,300 (GRCm39)		probably benign	Het
Nav1	T	A	1: 135,371,487 (GRCm39)	Q1746L	unknown	Het
Nedd9	T	C	13: 41,471,984 (GRCm39)	Y165C	probably damaging	Het
Neurod1	T	C	2: 79,284,720 (GRCm39)	Y221C	probably damaging	Het
Or2q1	A	T	6: 42,794,545 (GRCm39)	I47F	probably damaging	Het
Or4c122	G	T	2: 89,079,545 (GRCm39)	F152L	probably benign	Het
Or5al6	T	C	2: 85,976,625 (GRCm39)	Y151C	probably damaging	Het
Or9m1	T	C	2: 87,733,907 (GRCm39)	T38A	probably damaging	Het
Orm3	A	G	4: 63,274,533 (GRCm39)	N33D	possibly damaging	Het
Ppp1r3a	G	A	6: 14,754,525 (GRCm39)	P241S	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,657 (GRCm39)	T949A	probably benign	Het
Prdx6	A	T	1: 161,078,619 (GRCm39)	I23N	probably damaging	Het
Prkd3	A	T	17: 79,280,003 (GRCm39)	V334E	probably benign	Het
Prr12	A	T	7: 44,684,146 (GRCm39)	D1631E	probably damaging	Het
Ptpn22	A	G	3: 103,819,551 (GRCm39)		probably benign	Het
Pum2	T	G	12: 8,794,430 (GRCm39)	D773E	probably damaging	Het
Sidt2	A	G	9: 45,856,648 (GRCm39)	C451R	probably benign	Het
Slc37a2	A	G	9: 37,148,658 (GRCm39)	S275P	probably benign	Het
Slmap	G	T	14: 26,254,519 (GRCm39)	N54K	probably benign	Het
Susd4	A	G	1: 182,681,597 (GRCm39)	D146G	probably benign	Het
Tekt3	G	A	11: 62,972,169 (GRCm39)	R275H	possibly damaging	Het
Tkfc	A	G	19: 10,573,612 (GRCm39)	L242P	probably damaging	Het
Tm9sf2	T	A	14: 122,363,576 (GRCm39)	L99I	probably benign	Het
Triqk	A	T	4: 12,980,490 (GRCm39)	D78V	probably damaging	Het
Trmo	T	C	4: 46,382,322 (GRCm39)	D258G	probably benign	Het
Tsc2	A	G	17: 24,826,489 (GRCm39)	V920A	probably benign	Het
Tspan17	C	T	13: 54,943,991 (GRCm39)	Q257*	probably null	Het
Tube1	T	A	10: 39,011,017 (GRCm39)	F45I	probably damaging	Het
Vmn1r4	A	G	6: 56,933,822 (GRCm39)	T109A	possibly damaging	Het
Vmn2r14	A	T	5: 109,367,902 (GRCm39)	Y363*	probably null	Het
Zfp324	G	T	7: 12,705,455 (GRCm39)	G548V	probably benign	Het
Zpld2	C	A	4: 133,922,858 (GRCm39)	V492F	probably damaging	Het

Other mutations in Aco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Aco2	APN	15	81,797,915 (GRCm39)	missense	possibly damaging	0.88
IGL02450:Aco2	APN	15	81,798,963 (GRCm39)	makesense	probably null
IGL03408:Aco2	APN	15	81,783,424 (GRCm39)	critical splice donor site	probably null
ANU22:Aco2	UTSW	15	81,797,915 (GRCm39)	missense	possibly damaging	0.88
R0066:Aco2	UTSW	15	81,787,666 (GRCm39)	splice site	probably benign
R0066:Aco2	UTSW	15	81,787,666 (GRCm39)	splice site	probably benign
R0254:Aco2	UTSW	15	81,773,557 (GRCm39)	missense	probably damaging	0.99
R0408:Aco2	UTSW	15	81,797,319 (GRCm39)	splice site	probably null
R0535:Aco2	UTSW	15	81,797,418 (GRCm39)	missense	possibly damaging	0.76
R0839:Aco2	UTSW	15	81,791,736 (GRCm39)	splice site	probably null
R1199:Aco2	UTSW	15	81,779,394 (GRCm39)	missense	probably damaging	1.00
R1201:Aco2	UTSW	15	81,779,394 (GRCm39)	missense	probably damaging	1.00
R1320:Aco2	UTSW	15	81,779,394 (GRCm39)	missense	probably damaging	1.00
R1321:Aco2	UTSW	15	81,779,394 (GRCm39)	missense	probably damaging	1.00
R1322:Aco2	UTSW	15	81,779,394 (GRCm39)	missense	probably damaging	1.00
R2082:Aco2	UTSW	15	81,797,896 (GRCm39)	missense	possibly damaging	0.83
R2275:Aco2	UTSW	15	81,779,465 (GRCm39)	missense	probably benign	0.37
R2297:Aco2	UTSW	15	81,788,109 (GRCm39)	missense	probably damaging	1.00
R4414:Aco2	UTSW	15	81,773,584 (GRCm39)	splice site	probably null
R4497:Aco2	UTSW	15	81,779,486 (GRCm39)	missense	probably damaging	1.00
R4498:Aco2	UTSW	15	81,779,486 (GRCm39)	missense	probably damaging	1.00
R4708:Aco2	UTSW	15	81,794,117 (GRCm39)	critical splice donor site	probably null
R5556:Aco2	UTSW	15	81,773,520 (GRCm39)	missense	probably damaging	1.00
R5568:Aco2	UTSW	15	81,787,787 (GRCm39)	missense	probably damaging	0.99
R6103:Aco2	UTSW	15	81,797,452 (GRCm39)	missense	probably benign	0.00
R6912:Aco2	UTSW	15	81,779,597 (GRCm39)	missense	probably benign
R7319:Aco2	UTSW	15	81,787,820 (GRCm39)	missense	probably damaging	1.00
R7552:Aco2	UTSW	15	81,788,142 (GRCm39)	missense	probably damaging	1.00
R7585:Aco2	UTSW	15	81,756,685 (GRCm39)	unclassified	probably benign
R8792:Aco2	UTSW	15	81,793,697 (GRCm39)	missense	probably damaging	1.00
R8838:Aco2	UTSW	15	81,796,128 (GRCm39)	missense	probably damaging	0.97
R8957:Aco2	UTSW	15	81,773,701 (GRCm39)	intron	probably benign
R9014:Aco2	UTSW	15	81,798,857 (GRCm39)	missense	probably benign
R9037:Aco2	UTSW	15	81,756,620 (GRCm39)	unclassified	probably benign
R9038:Aco2	UTSW	15	81,756,620 (GRCm39)	unclassified	probably benign
R9562:Aco2	UTSW	15	81,773,635 (GRCm39)	missense	probably null	0.30
R9565:Aco2	UTSW	15	81,773,635 (GRCm39)	missense	probably null	0.30
Z1177:Aco2	UTSW	15	81,779,513 (GRCm39)	missense	probably damaging	0.99
Z1177:Aco2	UTSW	15	81,779,511 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGACCTTGAACTCCTGCC -3'
(R):5'- TTGACCTAGGACAACGCAGG -3'

Sequencing Primer
(F):5'- TGAACTCCTGCCTCCCC -3'
(R):5'- GAACGTCAGCCGCGAATC -3'

Posted On

2022-08-29