Mutagenetix > Incidental Mutation

Incidental Mutation 'R9014:Aco2'

685869

Institutional Source

Beutler Lab

Gene Symbol

Aco2

Ensembl Gene

ENSMUSG00000022477

Gene Name

aconitase 2, mitochondrial

Synonyms

Aco3, Irp1, D10Wsu183e, Aco-2

MMRRC Submission

068844-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R9014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81756664-81799338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81798857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 746 (N746S)

Ref Sequence

ENSEMBL: ENSMUSP00000023116 (fasta)

Gene Model

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

AlphaFold

Q99KI0

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

probably benign
Transcript: ENSMUST00000023116
AA Change: N746S

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

SMART Domains

Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477
AA Change: N746S

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: ENSMUST00000230050

Coding Region Coverage

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

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	C	12: 112,740,170 (GRCm39)	T1301A	possibly damaging	Het
Akap6	T	A	12: 53,186,403 (GRCm39)	N1272K	possibly damaging	Het
Apc	G	T	18: 34,354,074 (GRCm39)		probably benign	Het
Arap1	A	G	7: 101,053,540 (GRCm39)	S1290G	probably damaging	Het
Arhgef25	T	C	10: 127,019,607 (GRCm39)	Y483C	probably damaging	Het
Arpp21	G	T	9: 112,006,796 (GRCm39)	Q138K	probably damaging	Het
Bahcc1	C	T	11: 120,163,715 (GRCm39)	A671V	probably benign	Het
Bahcc1	T	C	11: 120,173,048 (GRCm39)	S1557P	probably benign	Het
Bltp2	T	C	11: 78,160,488 (GRCm39)	L649P	possibly damaging	Het
Brca2	C	A	5: 150,465,219 (GRCm39)	T1661K	probably benign	Het
Casq1	T	A	1: 172,038,064 (GRCm39)	S356C	probably damaging	Het
Catsperg1	T	C	7: 28,906,066 (GRCm39)	Y171C	probably damaging	Het
Ccdc88c	G	C	12: 100,879,323 (GRCm39)	Q1926E	probably benign	Het
Cdc42bpg	T	A	19: 6,372,289 (GRCm39)	M1425K	possibly damaging	Het
Chac2	C	T	11: 30,936,158 (GRCm39)	R30Q	probably damaging	Het
Clca3a1	T	C	3: 144,442,731 (GRCm39)	D771G	probably benign	Het
Cyp26c1	T	C	19: 37,675,844 (GRCm39)		probably null	Het
Dcaf8	T	C	1: 172,007,530 (GRCm39)	V333A	possibly damaging	Het
Dennd4c	G	A	4: 86,739,702 (GRCm39)	S997N	probably benign	Het
Dennd4c	A	C	4: 86,754,666 (GRCm39)	I1559L	probably benign	Het
Dgcr8	T	G	16: 18,077,514 (GRCm39)	H632P	possibly damaging	Het
Dhx16	C	A	17: 36,193,490 (GRCm39)	R278S	probably benign	Het
Dsel	A	T	1: 111,788,509 (GRCm39)	Y675*	probably null	Het
Dsp	T	C	13: 38,376,700 (GRCm39)	I1495T	possibly damaging	Het
Fam227a	T	A	15: 79,504,958 (GRCm39)	N495I	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,876 (GRCm39)	E1834G	probably damaging	Het
Focad	T	A	4: 88,275,763 (GRCm39)	M1124K	unknown	Het
Foxi3	A	G	6: 70,937,815 (GRCm39)	H349R	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Fsip2	C	A	2: 82,806,898 (GRCm39)	D1072E	probably benign	Het
Fsip2	T	G	2: 82,817,075 (GRCm39)	H4269Q	possibly damaging	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gm49383	A	C	12: 69,243,425 (GRCm39)	Y151*	probably null	Het
Ighv1-26	T	A	12: 114,752,033 (GRCm39)	S104C	probably damaging	Het
Kat6a	A	G	8: 23,430,087 (GRCm39)	N1814S	unknown	Het
Kif18a	T	A	2: 109,123,414 (GRCm39)	H229Q	probably damaging	Het
Klk1b4	C	T	7: 43,859,098 (GRCm39)	R39C	probably benign	Het
Lgr6	T	C	1: 134,931,248 (GRCm39)	I269V	probably damaging	Het
Lrtm2	A	G	6: 119,294,219 (GRCm39)	V304A	probably damaging	Het
Lsm8	A	G	6: 18,853,632 (GRCm39)	D78G	possibly damaging	Het
Mroh2b	T	C	15: 4,928,670 (GRCm39)	M1T	probably null	Het
Ms4a14	T	C	19: 11,278,871 (GRCm39)	E1229G	possibly damaging	Het
Nbeal1	G	A	1: 60,329,118 (GRCm39)	D2179N	probably damaging	Het
Nfix	G	A	8: 85,448,405 (GRCm39)	T366M	possibly damaging	Het
Or12j4	A	T	7: 140,045,883 (GRCm39)		probably benign	Het
Or56b1b	A	G	7: 108,164,882 (GRCm39)	L40P	possibly damaging	Het
Or8b49	T	C	9: 38,506,123 (GRCm39)	V202A	probably damaging	Het
Or8h9	T	A	2: 86,789,035 (GRCm39)	I256F	probably benign	Het
Pear1	T	C	3: 87,658,479 (GRCm39)	Q964R	probably benign	Het
Pgk2	T	G	17: 40,518,687 (GRCm39)	E247A	probably benign	Het
Ppfia2	C	T	10: 106,763,666 (GRCm39)	P1220S	probably benign	Het
Ppp1r1b	T	C	11: 98,241,449 (GRCm39)	S46P	probably damaging	Het
Ppp2ca	C	A	11: 52,009,510 (GRCm39)	H167Q	probably damaging	Het
Scel	A	T	14: 103,822,575 (GRCm39)	R396S	probably benign	Het
Siae	T	C	9: 37,557,639 (GRCm39)	V482A	possibly damaging	Het
Skint2	A	G	4: 112,483,026 (GRCm39)	M144V	probably benign	Het
Slc23a3	A	G	1: 75,109,274 (GRCm39)	F219L	probably benign	Het
Slc4a4	G	T	5: 89,280,245 (GRCm39)	A348S	probably damaging	Het
Spin1	G	T	13: 51,282,010 (GRCm39)		probably null	Het
Tab2	G	A	10: 7,794,920 (GRCm39)	R521W	probably damaging	Het
Tas2r118	G	A	6: 23,970,049 (GRCm39)	T4M	probably benign	Het
Tet2	T	A	3: 133,172,949 (GRCm39)	D1771V	probably damaging	Het
Tmprss15	T	C	16: 78,872,691 (GRCm39)	T172A	probably benign	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Txnrd3	A	G	6: 89,631,091 (GRCm39)	Y129C	probably damaging	Het
Ulk4	A	G	9: 121,017,294 (GRCm39)	I728T	probably benign	Het
Vmn1r44	G	A	6: 89,870,997 (GRCm39)	V248M	possibly damaging	Het
Wdr64	A	G	1: 175,526,395 (GRCm39)	I15V	probably benign	Het
Zdhhc17	T	C	10: 110,785,544 (GRCm39)	T423A	probably benign	Het
Zfp619	T	C	7: 39,187,246 (GRCm39)	I1092T	probably benign	Het
Zfp729b	A	T	13: 67,740,274 (GRCm39)	Y664N	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
R9037:Aco2	UTSW	15	81,756,620 (GRCm39)	unclassified	probably benign
R9038:Aco2	UTSW	15	81,756,620 (GRCm39)	unclassified	probably benign
R9039: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'- AATCCGTGTTCCAGCTGAAAG -3'
(R):5'- TGCTGCACAGACCAGATTAGG -3'

Sequencing Primer
(F):5'- GTGTTCCAGCTGAAAGCCAAC -3'
(R):5'- TCTGATGATGCACATGGACC -3'

Posted On

2021-10-11