Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Aco1'

227205

Institutional Source

Beutler Lab

Gene Symbol

Aco1

Ensembl Gene

ENSMUSG00000028405

Gene Name

aconitase 1

Synonyms

Irp1, Irebp, Aco-1

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R2072 (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 (GRCm38)

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]

AlphaFold

P28271

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: 97.4%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 63,898,737	R272P	possibly damaging	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Ablim3	A	T	18: 61,857,088	D83E	possibly damaging	Het
Adamts13	C	A	2: 27,005,425	T1176N	probably benign	Het
Adgre5	T	C	8: 83,727,804	T357A	probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,119,636	V310A	probably benign	Het
Bnipl	C	T	3: 95,244,211	G232E	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Cacna1s	G	A	1: 136,079,504	V173I	probably benign	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chrdl1	T	C	X: 143,303,418	I231V	probably benign	Het
Ciita	C	T	16: 10,518,353	T958I	probably benign	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,101,741	D240G	probably damaging	Het
Ddx58	A	T	4: 40,224,069		probably null	Het
Dlgap1	C	T	17: 70,662,770	R524C	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,275,252	M453V	probably benign	Het
Ednrb	G	T	14: 103,817,099	N432K	probably benign	Het
Fcgbp	G	A	7: 28,120,389	G2514S	probably damaging	Het
Fez1	A	G	9: 36,867,945	K306R	probably benign	Het
Fmo4	A	G	1: 162,809,887	V12A	probably benign	Het
Fpgt	T	C	3: 155,087,874	Y172C	probably damaging	Het
Fsip2	T	A	2: 83,008,815	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477	R205*	probably null	Het
Grik5	A	T	7: 25,015,313	M752K	possibly damaging	Het
Herc2	A	G	7: 56,226,964	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,592,545	D439V	probably damaging	Het
Igsf3	A	G	3: 101,439,515	T609A	probably benign	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
Lgi2	A	G	5: 52,538,505	S371P	probably damaging	Het
March3	A	T	18: 56,811,853	V56E	possibly damaging	Het
Mib2	T	C	4: 155,659,701	D168G	probably damaging	Het
Nhs	T	A	X: 161,842,721	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,325,006	S683P	probably damaging	Het
Olfr1260	C	A	2: 89,978,213	T145K	probably benign	Het
Olfr1454	A	T	19: 13,063,680	M90L	probably benign	Het
Olfr527	T	C	7: 140,336,653	S264P	possibly damaging	Het
Onecut3	T	G	10: 80,495,014	L3V	unknown	Het
Otogl	C	T	10: 107,781,043	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,430,262	V128A	possibly damaging	Het
Pcnx2	A	T	8: 125,761,742	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819	L955P	probably damaging	Het
Phlpp2	T	C	8: 109,928,492	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,158,451	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,787,348		probably null	Het
Prune1	C	T	3: 95,255,408	R318Q	probably benign	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Psg27	A	G	7: 18,565,009	L129P	probably benign	Het
Psmc6	A	G	14: 45,329,866	K7E	possibly damaging	Het
Reln	A	T	5: 21,919,177	V2777E	probably damaging	Het
Scn11a	G	T	9: 119,811,208	A207E	possibly damaging	Het
Slc5a5	C	T	8: 70,892,439	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,265,307	L42*	probably null	Het
Smg1	T	C	7: 118,163,166		probably benign	Het
Smurf2	T	A	11: 106,841,769	Q335L	probably benign	Het
Sspo	A	T	6: 48,473,517	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Syt1	A	G	10: 108,583,972	I276T	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar9	A	T	10: 24,108,979	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,882,965	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,458,867	T1091A	probably benign	Het
Ttn	G	T	2: 76,937,776	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,779,571		probably null	Het
Ube3c	A	G	5: 29,635,640	E671G	probably benign	Het
Upf3a	A	G	8: 13,785,850	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,286,753	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,275,072	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,922,452	R549*	probably null	Het
Zfp37	A	T	4: 62,191,708	M411K	probably damaging	Het
Zfp747	T	A	7: 127,373,970	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,289,382	Q161L	unknown	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
R2073: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
R8796:Aco1	UTSW	4	40179037	missense	probably benign

Predicted Primers

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

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

Posted On

2014-09-17