Mutagenetix > Incidental Mutations

Incidental Mutation 'R2073:Aco1'

227311

Institutional Source

Beutler Lab

Gene Symbol

Aco1

Ensembl Gene

ENSMUSG00000028405

Gene Name

aconitase 1

Synonyms

Irp1, Irebp, Aco-1

MMRRC Submission

040078-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.386) question?

Stock #

R2073 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40143081-40198338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40183605 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 508 (G508S)

Ref Sequence

ENSEMBL: ENSMUSP00000100038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102973]

Predicted Effect

probably damaging
Transcript: ENSMUST00000102973
AA Change: G508S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100038
Gene: ENSMUSG00000028405
AA Change: G508S

Domain	Start	End	E-Value	Type
Pfam:Aconitase	54	564	4.5e-180	PFAM
Pfam:Aconitase_C	692	821	1e-48	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the aconitase/IPM isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Depending on iron levels in the cytosol, the encoded protein can function as either an aconitase enzyme or as an mRNA binding protein. When cellular iron levels are high, the encoded protein functions as an aconitase, an essential enzyme in the TCA cycle that catalyzes the conversion of citrate to isocitrate. When cellular iron levels are low, the encoded protein regulates iron uptake and utilization by binding to iron-responsive elements in the untranslated regions of mRNAs for genes involved in iron metabolism. Disruption of this gene is associated with pulmonary hypertension and polycythemia. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display no obvious phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	A	G	4: 41,507,519		probably null	Het
2310057M21Rik	T	C	7: 131,357,513	R153G	probably benign	Het
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
5730596B20Rik	C	A	6: 52,178,982	Y9*	probably null	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Acot3	A	G	12: 84,053,456	H2R	possibly damaging	Het
Adamts13	T	A	2: 27,006,314	C1240S	probably damaging	Het
Adra1b	T	C	11: 43,835,871	N73S	probably damaging	Het
Aebp2	G	A	6: 140,633,694	S219N	probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ank	T	C	15: 27,565,022	S270P	probably benign	Het
Ankle1	G	A	8: 71,409,329	R492H	possibly damaging	Het
Ankub1	G	A	3: 57,692,292	H19Y	possibly damaging	Het
Anln	C	A	9: 22,333,168	W1083L	probably benign	Het
Apaf1	G	T	10: 91,031,694	S763*	probably null	Het
Apba3	A	G	10: 81,269,294	T134A	probably benign	Het
Bod1l	C	T	5: 41,819,189	S1594N	probably benign	Het
C7	T	C	15: 4,990,428	M746V	probably benign	Het
Cdkn2a	T	A	4: 89,294,493	I11F	possibly damaging	Het
Cideb	T	C	14: 55,755,160	M100V	possibly damaging	Het
Cntnap5c	T	C	17: 58,305,552	L862P	possibly damaging	Het
Coch	A	T	12: 51,602,689	D261V	probably benign	Het
Cyp2ab1	A	G	16: 20,313,889	F220L	possibly damaging	Het
Ddx10	A	T	9: 53,240,505	D73E	probably benign	Het
Dgkg	A	G	16: 22,565,317	F462S	probably damaging	Het
Dlgap3	C	T	4: 127,195,366	H252Y	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dtnb	A	G	12: 3,781,273	T658A	probably benign	Het
Duox2	T	A	2: 122,295,158	S323C	probably damaging	Het
Dync1h1	T	A	12: 110,614,592	I251N	probably damaging	Het
Eml5	A	G	12: 98,802,446	S1457P	probably damaging	Het
Fam114a1	T	A	5: 64,995,904		probably null	Het
Fcho1	A	T	8: 71,710,489	L632Q	probably damaging	Het
Gm12695	T	C	4: 96,723,945	Y527C	possibly damaging	Het
Gm16223	T	C	5: 42,214,599	C111R	unknown	Het
H2-Q4	T	A	17: 35,380,402	S154T	possibly damaging	Het
Hhat	A	G	1: 192,727,379	F125L	possibly damaging	Het
Ier5l	T	A	2: 30,473,056	D319V	probably damaging	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
M1ap	A	G	6: 82,981,882	I165V	probably benign	Het
Map2k4	A	C	11: 65,693,456	F334V	probably damaging	Het
Mmp19	G	A	10: 128,794,979	R156H	probably damaging	Het
Mpped2	T	A	2: 106,744,802	Y77*	probably null	Het
Nhs	T	A	X: 161,842,721	H544L	probably damaging	Het
Nr4a1	C	A	15: 101,274,067	H541N	probably damaging	Het
Olfr1247	A	G	2: 89,609,478	V208A	probably benign	Het
Olfr1484	A	T	19: 13,585,601	Q99L	probably damaging	Het
Pak6	A	C	2: 118,688,851	N17T	probably damaging	Het
Pcnt	T	A	10: 76,380,380	T2225S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819	L955P	probably damaging	Het
Phf21a	A	G	2: 92,348,036	D357G	probably damaging	Het
Pih1d3	A	G	1: 31,222,996	S20G	probably benign	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plch2	A	T	4: 154,989,909	L754Q	probably damaging	Het
Plekhd1	A	G	12: 80,721,292	N335D	probably benign	Het
Pole	C	A	5: 110,325,551	T1737N	probably damaging	Het
Pramel6	G	A	2: 87,508,744	S96N	probably damaging	Het
Prdm14	A	C	1: 13,125,730	Y36D	possibly damaging	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Rfc1	A	T	5: 65,301,939	D225E	probably damaging	Het
Sec16a	A	G	2: 26,440,239	I588T	probably damaging	Het
Setd6	G	A	8: 95,716,788	V60M	probably damaging	Het
Sgk3	A	G	1: 9,891,424	I432V	probably benign	Het
Six2	A	G	17: 85,687,505	S150P	probably damaging	Het
Slc1a6	T	C	10: 78,800,130	V343A	possibly damaging	Het
Slc43a3	T	C	2: 84,944,612		probably null	Het
Smc3	A	G	19: 53,631,533	D620G	probably benign	Het
Smg6	C	G	11: 74,930,294	P464A	probably damaging	Het
Sox11	T	C	12: 27,342,279	T44A	possibly damaging	Het
Spata22	A	G	11: 73,336,226	R89G	possibly damaging	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Syne2	A	G	12: 76,015,579	D4226G	possibly damaging	Het
Tecpr2	T	C	12: 110,968,429	S1370P	possibly damaging	Het
Tek	A	G	4: 94,827,729	I463V	probably benign	Het
Trib1	T	A	15: 59,654,340	I253N	probably damaging	Het
Triobp	G	T	15: 78,973,895	G1232V	probably damaging	Het
Trpm6	G	A	19: 18,876,042	V1809M	probably damaging	Het
Tsc22d4	A	G	5: 137,762,487	K57E	possibly damaging	Het
Vmn2r109	T	A	17: 20,564,712	K15N	probably benign	Het
Wdr78	G	A	4: 103,050,193	T632M	probably damaging	Het
Wnt9a	A	G	11: 59,331,229	N318D	probably damaging	Het
Wwp1	A	G	4: 19,662,181	V138A	possibly damaging	Het
Zfp37	A	T	4: 62,191,708	M411K	probably damaging	Het
Zfp715	T	A	7: 43,311,120	T16S	probably benign	Het
Zfp932	A	G	5: 110,009,818	T461A	possibly damaging	Het
Zscan29	A	T	2: 121,160,855	C817*	probably null	Het

Other mutations in Aco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Aco1	APN	4	40180290	critical splice donor site	probably null
IGL01081:Aco1	APN	4	40197576	missense	probably benign
IGL01364:Aco1	APN	4	40181380	splice site	probably null
IGL01733:Aco1	APN	4	40175738	splice site	probably benign
IGL02232:Aco1	APN	4	40175996	missense	probably damaging	1.00
IGL02709:Aco1	APN	4	40180199	missense	possibly damaging	0.86
IGL03164:Aco1	APN	4	40167116	missense	probably benign	0.30
IGL03208:Aco1	APN	4	40186424	missense	possibly damaging	0.55
IGL03324:Aco1	APN	4	40186363	missense	probably benign
IGL03353:Aco1	APN	4	40175893	missense	probably damaging	0.99
krebs	UTSW	4	40180210	nonsense	probably null
R0002:Aco1	UTSW	4	40176649	splice site	probably benign
R0486:Aco1	UTSW	4	40177783	missense	probably damaging	1.00
R0636:Aco1	UTSW	4	40175697	missense	probably damaging	1.00
R1344:Aco1	UTSW	4	40179008	missense	probably damaging	1.00
R1844:Aco1	UTSW	4	40197566	missense	probably benign	0.00
R1889:Aco1	UTSW	4	40164607	critical splice acceptor site	probably null
R1932:Aco1	UTSW	4	40176499	missense	probably damaging	1.00
R1959:Aco1	UTSW	4	40167193	critical splice donor site	probably null
R1965:Aco1	UTSW	4	40175730	missense	probably damaging	1.00
R1983:Aco1	UTSW	4	40175845	missense	probably benign	0.37
R2072:Aco1	UTSW	4	40183605	missense	probably damaging	1.00
R2074:Aco1	UTSW	4	40183605	missense	probably damaging	1.00
R3155:Aco1	UTSW	4	40182915	missense	probably damaging	1.00
R4595:Aco1	UTSW	4	40167139	missense	probably benign	0.43
R4999:Aco1	UTSW	4	40176507	missense	probably damaging	1.00
R5131:Aco1	UTSW	4	40163797	missense	probably benign
R5354:Aco1	UTSW	4	40180290	critical splice donor site	probably null
R5380:Aco1	UTSW	4	40177848	missense	probably damaging	1.00
R6352:Aco1	UTSW	4	40186367	missense	probably benign	0.10
R6353:Aco1	UTSW	4	40186367	missense	probably benign	0.10
R6380:Aco1	UTSW	4	40185028	missense	probably benign	0.02
R6540:Aco1	UTSW	4	40186367	missense	probably benign	0.10
R6751:Aco1	UTSW	4	40188330	splice site	probably null
R6760:Aco1	UTSW	4	40180210	nonsense	probably null
R6833:Aco1	UTSW	4	40164747	missense	probably benign	0.00
R6834:Aco1	UTSW	4	40164747	missense	probably benign	0.00
R7019:Aco1	UTSW	4	40186376	missense	probably damaging	1.00
R7852:Aco1	UTSW	4	40180263	missense	probably benign	0.00
R7912:Aco1	UTSW	4	40184983	missense	probably damaging	1.00
R8188:Aco1	UTSW	4	40180284	missense	probably benign	0.00
R8329:Aco1	UTSW	4	40186376	missense	possibly damaging	0.83
R8346:Aco1	UTSW	4	40177876	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTCAACTCCTGTGTTAACAAGC -3'
(R):5'- AGCACTCTCTAAAACTCTGCTATAG -3'

Sequencing Primer
(F):5'- GCTTTAAAATGTCAGTAGCATCCTG -3'
(R):5'- TTAGCTGCCCGACGTTACACAG -3'

Posted On

2014-09-17