Incidental Mutation 'IGL01733:Aco1'
ID105593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aco1
Ensembl Gene ENSMUSG00000028405
Gene Nameaconitase 1
SynonymsIrp1, Irebp, Aco-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.394) question?
Stock #IGL01733
Quality Score
Status
Chromosome4
Chromosomal Location40143081-40198338 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 40175738 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102973]
Predicted Effect probably benign
Transcript: ENSMUST00000102973
SMART Domains Protein: ENSMUSP00000100038
Gene: ENSMUSG00000028405

DomainStartEndE-ValueType
Pfam:Aconitase 54 564 4.5e-180 PFAM
Pfam:Aconitase_C 692 821 1e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142360
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 C T 15: 91,191,614 probably benign Het
Brinp3 T C 1: 146,514,803 V29A probably benign Het
Brsk1 T C 7: 4,706,072 Y361H probably damaging Het
Ccdc178 G T 18: 22,024,812 probably benign Het
Ces1f A G 8: 93,270,014 I217T probably damaging Het
Col6a6 T A 9: 105,709,255 T1856S possibly damaging Het
Cuedc2 C A 19: 46,332,673 V7F probably damaging Het
Cyp2d34 C T 15: 82,618,660 V122M possibly damaging Het
Ddx60 T C 8: 61,983,865 S949P probably damaging Het
Dlg5 G A 14: 24,170,449 R554W probably damaging Het
Fig4 A T 10: 41,277,393 N137K possibly damaging Het
Gpr155 C T 2: 73,353,612 probably null Het
Grk6 A C 13: 55,451,391 N168T possibly damaging Het
Hfe T G 13: 23,706,865 K97T possibly damaging Het
Hsd3b2 C T 3: 98,716,485 E26K probably damaging Het
Impg1 A G 9: 80,341,924 S666P probably damaging Het
Itpkb T G 1: 180,333,169 S287A possibly damaging Het
Kcnh5 T C 12: 74,965,192 D651G probably benign Het
Lemd3 C T 10: 120,933,663 W588* probably null Het
Lepr A G 4: 101,765,082 T404A probably benign Het
Metap1d A G 2: 71,511,433 I124V probably damaging Het
Mrpl33 T C 5: 31,622,389 V54A probably benign Het
Mybl1 A T 1: 9,685,710 S205T possibly damaging Het
Mybpc2 T A 7: 44,506,198 D877V probably benign Het
Nxph2 T C 2: 23,400,125 V163A probably benign Het
Pakap G T 4: 57,856,488 V606L probably benign Het
Pex16 C T 2: 92,378,828 P192S probably damaging Het
Ptprq C A 10: 107,662,599 M872I probably benign Het
Ripor1 C T 8: 105,615,746 R150W possibly damaging Het
Spns2 A T 11: 72,456,510 V423E possibly damaging Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Stoml3 A G 3: 53,498,127 I50V probably benign Het
Taar8c A G 10: 24,101,257 I219T possibly damaging Het
Ubap2 A C 4: 41,195,862 probably benign Het
Zfat T C 15: 68,180,730 D398G probably damaging Het
Other mutations in Aco1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
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 intron 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
R7935:Aco1 UTSW 4 40180263 missense probably benign 0.00
R7993:Aco1 UTSW 4 40184983 missense probably damaging 1.00
Posted On2014-01-21