Incidental Mutation 'R0002:Aco1'
ID 8165
Institutional Source Beutler Lab
Gene Symbol Aco1
Ensembl Gene ENSMUSG00000028405
Gene Name aconitase 1
Synonyms Irp1, Aco-1, Irebp
MMRRC Submission 038298-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R0002 (G1)
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 40143081-40198338 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 40176649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102973]
AlphaFold P28271
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
  • 1x: 85.4%
  • 3x: 79.5%
  • 10x: 62.0%
  • 20x: 53.1%
Validation Efficiency 95% (61/64)
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl2 T C 1: 106,640,241 (GRCm39) R124G possibly damaging Het
Bri3 G T 5: 144,181,312 (GRCm39) C6F probably benign Het
Chn2 A G 6: 54,250,098 (GRCm39) N69S probably benign Het
Col5a3 T A 9: 20,721,152 (GRCm39) probably null Het
Dhx36 A C 3: 62,388,260 (GRCm39) L625W probably damaging Het
Exph5 G T 9: 53,285,256 (GRCm39) R779I probably damaging Het
F5 T C 1: 164,029,200 (GRCm39) F1733S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Iqch T C 9: 63,502,025 (GRCm39) probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Pate14 A T 9: 36,548,655 (GRCm39) D59E probably damaging Het
Patl2 G A 2: 121,956,191 (GRCm39) probably benign Het
Pik3c2g A G 6: 139,714,471 (GRCm39) T208A probably benign Het
Prkag3 T C 1: 74,783,947 (GRCm39) D312G probably damaging Het
Slc26a5 T A 5: 22,019,981 (GRCm39) I530F probably damaging Het
Tacc2 T A 7: 130,223,515 (GRCm39) S67T probably damaging Het
Tas2r113 T A 6: 132,870,742 (GRCm39) S257T probably benign Het
Tnr T C 1: 159,701,770 (GRCm39) Y624H probably damaging Het
Ubr4 T C 4: 139,118,211 (GRCm39) L112P probably damaging Het
Other mutations in Aco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Aco1 APN 4 40,180,290 (GRCm39) critical splice donor site probably null
IGL01081:Aco1 APN 4 40,197,576 (GRCm39) missense probably benign
IGL01364:Aco1 APN 4 40,181,380 (GRCm39) splice site probably null
IGL01733:Aco1 APN 4 40,175,738 (GRCm39) splice site probably benign
IGL02232:Aco1 APN 4 40,175,996 (GRCm39) missense probably damaging 1.00
IGL02709:Aco1 APN 4 40,180,199 (GRCm39) missense possibly damaging 0.86
IGL03164:Aco1 APN 4 40,167,116 (GRCm39) missense probably benign 0.30
IGL03208:Aco1 APN 4 40,186,424 (GRCm39) missense possibly damaging 0.55
IGL03324:Aco1 APN 4 40,186,363 (GRCm39) missense probably benign
IGL03353:Aco1 APN 4 40,175,893 (GRCm39) missense probably damaging 0.99
krebs UTSW 4 40,180,210 (GRCm39) nonsense probably null
R0486:Aco1 UTSW 4 40,177,783 (GRCm39) missense probably damaging 1.00
R0636:Aco1 UTSW 4 40,175,697 (GRCm39) missense probably damaging 1.00
R1344:Aco1 UTSW 4 40,179,008 (GRCm39) missense probably damaging 1.00
R1844:Aco1 UTSW 4 40,197,566 (GRCm39) missense probably benign 0.00
R1889:Aco1 UTSW 4 40,164,607 (GRCm39) critical splice acceptor site probably null
R1932:Aco1 UTSW 4 40,176,499 (GRCm39) missense probably damaging 1.00
R1959:Aco1 UTSW 4 40,167,193 (GRCm39) critical splice donor site probably null
R1965:Aco1 UTSW 4 40,175,730 (GRCm39) missense probably damaging 1.00
R1983:Aco1 UTSW 4 40,175,845 (GRCm39) missense probably benign 0.37
R2072:Aco1 UTSW 4 40,183,605 (GRCm39) missense probably damaging 1.00
R2073:Aco1 UTSW 4 40,183,605 (GRCm39) missense probably damaging 1.00
R2074:Aco1 UTSW 4 40,183,605 (GRCm39) missense probably damaging 1.00
R3155:Aco1 UTSW 4 40,182,915 (GRCm39) missense probably damaging 1.00
R4595:Aco1 UTSW 4 40,167,139 (GRCm39) missense probably benign 0.43
R4999:Aco1 UTSW 4 40,176,507 (GRCm39) missense probably damaging 1.00
R5131:Aco1 UTSW 4 40,163,797 (GRCm39) missense probably benign
R5354:Aco1 UTSW 4 40,180,290 (GRCm39) critical splice donor site probably null
R5380:Aco1 UTSW 4 40,177,848 (GRCm39) missense probably damaging 1.00
R6352:Aco1 UTSW 4 40,186,367 (GRCm39) missense probably benign 0.10
R6353:Aco1 UTSW 4 40,186,367 (GRCm39) missense probably benign 0.10
R6380:Aco1 UTSW 4 40,185,028 (GRCm39) missense probably benign 0.02
R6540:Aco1 UTSW 4 40,186,367 (GRCm39) missense probably benign 0.10
R6751:Aco1 UTSW 4 40,188,330 (GRCm39) splice site probably null
R6760:Aco1 UTSW 4 40,180,210 (GRCm39) nonsense probably null
R6833:Aco1 UTSW 4 40,164,747 (GRCm39) missense probably benign 0.00
R6834:Aco1 UTSW 4 40,164,747 (GRCm39) missense probably benign 0.00
R7019:Aco1 UTSW 4 40,186,376 (GRCm39) missense probably damaging 1.00
R7852:Aco1 UTSW 4 40,180,263 (GRCm39) missense probably benign 0.00
R7912:Aco1 UTSW 4 40,184,983 (GRCm39) missense probably damaging 1.00
R8188:Aco1 UTSW 4 40,180,284 (GRCm39) missense probably benign 0.00
R8329:Aco1 UTSW 4 40,186,376 (GRCm39) missense possibly damaging 0.83
R8346:Aco1 UTSW 4 40,177,876 (GRCm39) missense probably damaging 1.00
R8796:Aco1 UTSW 4 40,179,037 (GRCm39) missense probably benign
Posted On 2012-11-20