Incidental Mutation 'R6540:Aco1'
ID 520668
Institutional Source Beutler Lab
Gene Symbol Aco1
Ensembl Gene ENSMUSG00000028405
Gene Name aconitase 1
Synonyms Irp1, Aco-1, Irebp
MMRRC Submission 044666-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R6540 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 40143081-40198338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40186367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 593 (R593Q)
Ref Sequence ENSEMBL: ENSMUSP00000100038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102973]
AlphaFold P28271
Predicted Effect probably benign
Transcript: ENSMUST00000102973
AA Change: R593Q

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100038
Gene: ENSMUSG00000028405
AA Change: R593Q

DomainStartEndE-ValueType
Pfam:Aconitase 54 564 4.5e-180 PFAM
Pfam:Aconitase_C 692 821 1e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135787
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
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
A3galt2 T C 4: 128,660,779 (GRCm39) Y143H possibly damaging Het
Adamts2 T C 11: 50,679,567 (GRCm39) V849A possibly damaging Het
Ash1l A T 3: 88,892,368 (GRCm39) T1416S probably damaging Het
Cdc5l A G 17: 45,737,570 (GRCm39) W63R probably damaging Het
Cep95 T A 11: 106,692,328 (GRCm39) D169E probably damaging Het
Col14a1 A C 15: 55,235,977 (GRCm39) N297T unknown Het
Cp T C 3: 20,018,693 (GRCm39) probably null Het
Fbxl19 G T 7: 127,347,525 (GRCm39) probably benign Het
Flnc T C 6: 29,446,376 (GRCm39) V931A possibly damaging Het
Foxj2 A G 6: 122,810,202 (GRCm39) H187R probably benign Het
Hectd4 G A 5: 121,441,634 (GRCm39) V1199I probably benign Het
Ighv7-4 A G 12: 114,186,470 (GRCm39) Y101H possibly damaging Het
Igkv10-94 T A 6: 68,681,507 (GRCm39) Y111F probably benign Het
Lin28a C T 4: 133,745,372 (GRCm39) V74M possibly damaging Het
Lrrc49 T C 9: 60,592,335 (GRCm39) N53S possibly damaging Het
Mroh9 T G 1: 162,866,541 (GRCm39) T701P possibly damaging Het
Ndst4 A T 3: 125,515,801 (GRCm39) K309* probably null Het
Nlrp9a T C 7: 26,256,817 (GRCm39) V145A possibly damaging Het
Or2l5 T C 16: 19,333,571 (GRCm39) I272V probably benign Het
Ovgp1 A T 3: 105,893,897 (GRCm39) K557* probably null Het
Pde4b T C 4: 102,459,073 (GRCm39) L546P probably damaging Het
Pkd1 G A 17: 24,794,951 (GRCm39) V2213M probably damaging Het
Plekhh1 A G 12: 79,111,263 (GRCm39) I542V probably benign Het
Ppan A G 9: 20,802,506 (GRCm39) probably null Het
Prdm15 A T 16: 97,637,005 (GRCm39) V104E probably benign Het
Semp2l2a A C 8: 13,887,573 (GRCm39) S173A probably benign Het
Sik3 A G 9: 46,123,351 (GRCm39) H1050R probably benign Het
Slc35d3 A G 10: 19,725,086 (GRCm39) F257L possibly damaging Het
Tfip11 A G 5: 112,482,263 (GRCm39) probably null Het
Tmem132d A G 5: 128,345,596 (GRCm39) S309P possibly damaging Het
Tmem87a T C 2: 120,234,400 (GRCm39) I48V probably benign Het
V1rd19 T A 7: 23,703,056 (GRCm39) L174* probably null Het
Zfp729a A G 13: 67,767,767 (GRCm39) C821R possibly damaging Het
Zfp970 C A 2: 177,167,388 (GRCm39) H321N probably damaging Het
Zzef1 T C 11: 72,804,055 (GRCm39) L2599P 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
R0002:Aco1 UTSW 4 40,176,649 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACAAGTTCGGCGCCTACAAG -3'
(R):5'- TCCTGGGTGAAGAATAACCAAG -3'

Sequencing Primer
(F):5'- TTCGGCGCCTACAAGTTAGAG -3'
(R):5'- CTTCCAGTCAAAGAAAGCAAGAG -3'
Posted On 2018-06-06