Incidental Mutation 'R1344:Aco1'
ID 200708
Institutional Source Beutler Lab
Gene Symbol Aco1
Ensembl Gene ENSMUSG00000028405
Gene Name aconitase 1
Synonyms Irp1, Aco-1, Irebp
MMRRC Submission 039409-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R1344 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 40143081-40198338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40179008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 336 (Y336H)
Ref Sequence ENSEMBL: ENSMUSP00000100038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102973]
AlphaFold P28271
Predicted Effect probably damaging
Transcript: ENSMUST00000102973
AA Change: Y336H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100038
Gene: ENSMUSG00000028405
AA Change: Y336H

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: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T G 6: 52,156,131 (GRCm39) probably benign Het
Adamts12 T A 15: 11,286,890 (GRCm39) W832R probably damaging Het
Asxl2 A G 12: 3,543,790 (GRCm39) K320E probably damaging Het
Atrnl1 G A 19: 57,924,137 (GRCm39) probably null Het
B4galnt2 A C 11: 95,760,181 (GRCm39) I282S probably benign Het
Bcl2l13 T C 6: 120,853,288 (GRCm39) I191T probably benign Het
Bltp3a A G 17: 28,113,551 (GRCm39) K1241R probably benign Het
Cd101 A T 3: 100,926,091 (GRCm39) Y209* probably null Het
Cd109 A T 9: 78,579,832 (GRCm39) probably null Het
Cdc34 G A 10: 79,521,134 (GRCm39) A128T probably damaging Het
Cdk12 T A 11: 98,132,611 (GRCm39) S1013R unknown Het
Cntd1 T A 11: 101,176,566 (GRCm39) L221Q possibly damaging Het
Cntn4 G A 6: 106,321,831 (GRCm39) probably null Het
Col12a1 T A 9: 79,606,837 (GRCm39) K529* probably null Het
Col17a1 T A 19: 47,659,944 (GRCm39) D336V probably damaging Het
Creb3l4 A G 3: 90,146,045 (GRCm39) I193T possibly damaging Het
Cyp2d10 A T 15: 82,290,106 (GRCm39) probably null Het
Dcun1d3 A G 7: 119,457,158 (GRCm39) F185L probably damaging Het
Dlec1 G A 9: 118,959,085 (GRCm39) E910K probably benign Het
Dnajc19 T A 3: 34,112,161 (GRCm39) N128I probably damaging Het
Dusp1 A G 17: 26,727,293 (GRCm39) V2A probably benign Het
Eea1 G A 10: 95,830,861 (GRCm39) probably null Het
Elf1 T C 14: 79,798,215 (GRCm39) V34A probably damaging Het
Extl1 T C 4: 134,086,552 (GRCm39) D501G probably damaging Het
Fcgr2b T C 1: 170,788,650 (GRCm39) Y319C probably damaging Het
Fhip2a G A 19: 57,359,594 (GRCm39) A45T possibly damaging Het
Fxr2 A G 11: 69,539,710 (GRCm39) H247R possibly damaging Het
Gask1a A T 9: 121,807,452 (GRCm39) H532L probably damaging Het
Gfra1 A C 19: 58,226,849 (GRCm39) S461A possibly damaging Het
Gli2 T G 1: 118,769,666 (GRCm39) I629L probably damaging Het
Gpx3 G A 11: 54,800,422 (GRCm39) V207I probably damaging Het
Helz2 T C 2: 180,879,389 (GRCm39) D743G possibly damaging Het
Hormad2 A G 11: 4,359,005 (GRCm39) probably null Het
Ifitm1 C T 7: 140,548,263 (GRCm39) T32M probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Lrit2 A G 14: 36,790,513 (GRCm39) N64S probably benign Het
Lsm14a A T 7: 34,052,982 (GRCm39) D322E probably damaging Het
Macf1 T G 4: 123,327,246 (GRCm39) R4752S probably damaging Het
Mark3 T C 12: 111,594,271 (GRCm39) I307T possibly damaging Het
Mpdz T A 4: 81,226,556 (GRCm39) T1360S probably benign Het
Mtif2 G A 11: 29,495,002 (GRCm39) V701I probably benign Het
Myh3 A G 11: 66,983,158 (GRCm39) E895G probably benign Het
Ncan A C 8: 70,560,819 (GRCm39) I716R probably benign Het
Ncor2 C T 5: 125,102,510 (GRCm39) R1867K probably damaging Het
Oas1d C T 5: 121,052,959 (GRCm39) L5F probably damaging Het
Or10s1 T A 9: 39,985,768 (GRCm39) L59H probably damaging Het
Or11h4b T A 14: 50,918,315 (GRCm39) M259L probably benign Het
Or13a17 T C 7: 140,271,712 (GRCm39) V298A probably damaging Het
Or3a4 A T 11: 73,945,038 (GRCm39) C182* probably null Het
Otog G T 7: 45,924,039 (GRCm39) A1133S probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pdcd11 A G 19: 47,118,516 (GRCm39) D1794G probably damaging Het
Pde1c T C 6: 56,338,752 (GRCm39) I27V probably benign Het
Pde4d C A 13: 110,086,921 (GRCm39) S609* probably null Het
Piezo2 T A 18: 63,154,325 (GRCm39) I2485F probably damaging Het
Plekhd1 A G 12: 80,739,659 (GRCm39) T3A probably benign Het
Plscr1 C T 9: 92,141,357 (GRCm39) T15I unknown Het
Rd3 T C 1: 191,717,262 (GRCm39) *106R probably null Het
Rnf125 A G 18: 21,114,288 (GRCm39) I97V possibly damaging Het
Sec24b T C 3: 129,801,072 (GRCm39) N408S probably damaging Het
Sf3b3 G C 8: 111,564,935 (GRCm39) A291G probably damaging Het
Simc1 T C 13: 54,698,292 (GRCm39) V403A probably damaging Het
Slc38a9 T C 13: 112,826,714 (GRCm39) C151R probably benign Het
Slco1a8 A G 6: 141,931,344 (GRCm39) S474P probably damaging Het
Slitrk5 A G 14: 111,917,821 (GRCm39) S482G probably benign Het
Smyd1 G A 6: 71,239,151 (GRCm39) T13I probably benign Het
Speer4a3 T A 5: 26,158,107 (GRCm39) T82S probably benign Het
Stoml2 T A 4: 43,028,197 (GRCm39) I344F probably benign Het
Tet1 C T 10: 62,650,300 (GRCm39) R1636H probably damaging Het
Thap12 A G 7: 98,366,037 (GRCm39) D735G probably damaging Het
Tnip3 T C 6: 65,574,413 (GRCm39) V88A probably benign Het
Ttn A G 2: 76,565,755 (GRCm39) V28199A possibly damaging Het
Ube3b T C 5: 114,556,636 (GRCm39) F989S probably damaging Het
Ubox5 A G 2: 130,442,210 (GRCm39) L159P probably damaging Het
Uevld A T 7: 46,587,758 (GRCm39) V314E possibly damaging Het
Urb1 T C 16: 90,566,354 (GRCm39) M1478V probably damaging Het
Ust C A 10: 8,173,954 (GRCm39) V184F possibly damaging Het
Wdr95 G A 5: 149,511,563 (GRCm39) C421Y 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
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
Predicted Primers PCR Primer
(F):5'- TGCTTACGAGCCAGAGGTATGAGG -3'
(R):5'- TGATGTCCCATAGTTGGACCACCC -3'

Sequencing Primer
(F):5'- TCCTGATAAGGAACTGTCGC -3'
(R):5'- GTTGGACCACCCCTGAAAAAAC -3'
Posted On 2014-05-23