Incidental Mutation 'R4999:Aco1'
ID 389705
Institutional Source Beutler Lab
Gene Symbol Aco1
Ensembl Gene ENSMUSG00000028405
Gene Name aconitase 1
Synonyms Irp1, Aco-1, Irebp
MMRRC Submission 042593-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R4999 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 40143081-40198338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40176507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 224 (I224V)
Ref Sequence ENSEMBL: ENSMUSP00000100038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102973]
AlphaFold P28271
Predicted Effect probably damaging
Transcript: ENSMUST00000102973
AA Change: I224V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100038
Gene: ENSMUSG00000028405
AA Change: I224V

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik A G 1: 16,139,022 (GRCm39) probably null Het
Abca4 T A 3: 121,899,019 (GRCm39) V667D probably damaging Het
Arel1 C T 12: 84,978,541 (GRCm39) V364M probably damaging Het
Arhgap42 A G 9: 9,009,435 (GRCm39) V484A probably damaging Het
Asap2 T C 12: 21,302,766 (GRCm39) F681L probably benign Het
Atrn C A 2: 130,817,874 (GRCm39) D809E probably damaging Het
Ccdc70 G A 8: 22,463,266 (GRCm39) V19M possibly damaging Het
Ccp110 G T 7: 118,329,235 (GRCm39) E73* probably null Het
Cfap57 A C 4: 118,453,045 (GRCm39) S553A probably benign Het
Cftr A G 6: 18,221,613 (GRCm39) K212E probably benign Het
Chkb A T 15: 89,312,368 (GRCm39) Y216N probably damaging Het
Cntnap2 G T 6: 45,897,768 (GRCm39) D149Y probably damaging Het
Cpd A G 11: 76,737,048 (GRCm39) probably null Het
Creb3l1 C T 2: 91,813,571 (GRCm39) D489N probably benign Het
Crhbp A G 13: 95,578,753 (GRCm39) F123L probably damaging Het
Cryab T C 9: 50,665,909 (GRCm39) V100A possibly damaging Het
Csmd2 T C 4: 128,415,723 (GRCm39) I2684T probably benign Het
Ctbp2 G T 7: 132,616,378 (GRCm39) P186T possibly damaging Het
Ctnna2 T C 6: 76,892,745 (GRCm39) N814S possibly damaging Het
Dntt T C 19: 41,028,295 (GRCm39) V197A probably damaging Het
Fam135a G A 1: 24,059,758 (GRCm39) A1187V possibly damaging Het
Filip1l A T 16: 57,390,778 (GRCm39) Q455H probably benign Het
Grm2 T C 9: 106,531,189 (GRCm39) E100G probably damaging Het
Gtf2ird2 G A 5: 134,246,306 (GRCm39) V855M probably damaging Het
Heatr9 A T 11: 83,409,618 (GRCm39) I118N possibly damaging Het
Htra3 T C 5: 35,828,469 (GRCm39) H137R probably benign Het
Iars1 A G 13: 49,863,137 (GRCm39) S530G probably damaging Het
Klhdc4 T A 8: 122,523,342 (GRCm39) M510L probably benign Het
Lipc T C 9: 70,724,013 (GRCm39) T204A probably benign Het
Lrp1 A G 10: 127,389,648 (GRCm39) V3129A probably damaging Het
Macf1 G A 4: 123,388,702 (GRCm39) T1120I probably benign Het
Maco1 A G 4: 134,555,444 (GRCm39) I343T probably benign Het
Map4 T C 9: 109,867,445 (GRCm39) probably benign Het
Mbtps1 A T 8: 120,260,087 (GRCm39) V420D probably damaging Het
Mta2 G T 19: 8,927,747 (GRCm39) D523Y probably benign Het
Mtcl2 C T 2: 156,864,776 (GRCm39) G1144D probably benign Het
Muc4 A G 16: 32,576,670 (GRCm39) probably benign Het
Mug1 C T 6: 121,855,902 (GRCm39) Q965* probably null Het
Myo1e T A 9: 70,260,594 (GRCm39) I584N probably damaging Het
Nolc1 T C 19: 46,067,359 (GRCm39) V80A probably damaging Het
Nop56 G T 2: 130,117,645 (GRCm39) V91L probably benign Het
Or5b99 A T 19: 12,976,583 (GRCm39) M78L probably benign Het
Or5h23 A T 16: 58,906,765 (GRCm39) L27Q probably damaging Het
Or6f2 T C 7: 139,756,933 (GRCm39) V300A probably damaging Het
Osbpl3 T C 6: 50,313,277 (GRCm39) E107G probably damaging Het
Pde3a T A 6: 141,195,751 (GRCm39) C146S probably benign Het
Pfkm A G 15: 98,026,123 (GRCm39) M573V probably damaging Het
Pkd1l2 C T 8: 117,774,113 (GRCm39) probably null Het
Plekhg3 T C 12: 76,612,021 (GRCm39) I374T possibly damaging Het
Ppig T A 2: 69,571,830 (GRCm39) V183D unknown Het
Prom1 T G 5: 44,194,876 (GRCm39) I290L probably benign Het
Rufy3 T A 5: 88,785,085 (GRCm39) M387K probably damaging Het
Selenoo G A 15: 88,978,387 (GRCm39) R270H probably damaging Het
Sema3d T A 5: 12,558,054 (GRCm39) probably null Het
Sema6c C T 3: 95,075,674 (GRCm39) T175I probably damaging Het
Serpina3k T C 12: 104,307,305 (GRCm39) I179T probably damaging Het
Sf3b3 T C 8: 111,567,835 (GRCm39) T207A probably benign Het
Slc22a26 C A 19: 7,779,546 (GRCm39) R90L probably damaging Het
Slitrk5 T C 14: 111,917,648 (GRCm39) V424A probably damaging Het
Smarca2 G T 19: 26,698,255 (GRCm39) E89* probably null Het
Stab2 T A 10: 86,773,773 (GRCm39) S853C probably damaging Het
Stk17b A T 1: 53,800,306 (GRCm39) probably null Het
Taar5 T A 10: 23,847,445 (GRCm39) I281N possibly damaging Het
Tars3 A T 7: 65,308,683 (GRCm39) E284D probably damaging Het
Tbx15 C A 3: 99,223,649 (GRCm39) T279K probably damaging Het
Tfr2 G A 5: 137,585,187 (GRCm39) V740I probably benign Het
Tlr12 T C 4: 128,511,473 (GRCm39) E259G probably benign Het
Tmem145 A G 7: 25,008,459 (GRCm39) T302A probably benign Het
Trappc14 T A 5: 138,259,884 (GRCm39) T391S probably damaging Het
Trpa1 G T 1: 14,946,085 (GRCm39) H1015Q probably benign Het
Tspan8 A G 10: 115,653,534 (GRCm39) Y10C possibly damaging Het
Ttll7 A G 3: 146,600,224 (GRCm39) N44S probably damaging Het
Uba7 T C 9: 107,857,038 (GRCm39) probably null Het
Ube2j2 G A 4: 156,030,841 (GRCm39) M1I probably null Het
Ubr5 C A 15: 38,009,912 (GRCm39) A1022S probably benign Het
Usf1 T G 1: 171,243,331 (GRCm39) I36S probably damaging Het
Vmn1r181 A T 7: 23,683,790 (GRCm39) D85V probably damaging Het
Vmn1r3 A T 4: 3,185,009 (GRCm39) Y99* probably null Het
Vmn1r72 T C 7: 11,404,300 (GRCm39) I49M possibly damaging Het
Vmn2r99 A G 17: 19,582,397 (GRCm39) M1V probably null Het
Vsig10 T A 5: 117,482,040 (GRCm39) V410E probably damaging Het
Zc3h7b A G 15: 81,663,334 (GRCm39) Y442C probably damaging Het
Zfyve26 G T 12: 79,327,159 (GRCm39) Y730* probably null 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
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'- GATGTTGGCACAGGGGAATTCC -3'
(R):5'- AACTTAAAATCCAGGTGGGGCC -3'

Sequencing Primer
(F):5'- TTCCTGGGGAATAGAGAGAAGTG -3'
(R):5'- GCTCGGTGGATAGAACTAAATCCC -3'
Posted On 2016-06-06