Incidental Mutation 'R5354:Aco1'
ID 423955
Institutional Source Beutler Lab
Gene Symbol Aco1
Ensembl Gene ENSMUSG00000028405
Gene Name aconitase 1
Synonyms Irp1, Aco-1, Irebp
MMRRC Submission 042933-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R5354 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 40143081-40198338 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 40180290 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 null
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
Meta Mutation Damage Score 0.9499 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (80/80)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A G 16: 14,436,535 (GRCm39) K196R probably benign Het
Ablim1 T C 19: 57,119,355 (GRCm39) E243G probably benign Het
Acat1 T A 9: 53,500,483 (GRCm39) E271V possibly damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Agbl3 T A 6: 34,791,687 (GRCm39) H596Q probably benign Het
Anxa7 A G 14: 20,514,977 (GRCm39) L177P possibly damaging Het
Atp11a A T 8: 12,856,753 (GRCm39) N48I probably damaging Het
Bcas1 T A 2: 170,191,316 (GRCm39) N492I possibly damaging Het
Bclaf1 A G 10: 20,209,278 (GRCm39) Y498C probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Bod1l A C 5: 41,988,880 (GRCm39) V409G probably damaging Het
Ccdc170 G A 10: 4,484,188 (GRCm39) C338Y probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Ckap2 A C 8: 22,667,581 (GRCm39) N93K probably damaging Het
Clca3a1 A T 3: 144,442,766 (GRCm39) S759R possibly damaging Het
Coro1c A T 5: 113,984,226 (GRCm39) I347N possibly damaging Het
Cpox A G 16: 58,491,205 (GRCm39) T139A probably damaging Het
Cyp4a12b C A 4: 115,290,661 (GRCm39) probably null Het
Dctn1 T G 6: 83,160,108 (GRCm39) V116G possibly damaging Het
Dhx38 A G 8: 110,282,378 (GRCm39) V683A probably damaging Het
Dnah12 G A 14: 26,496,299 (GRCm39) probably null Het
Dnajb7 T C 15: 81,292,208 (GRCm39) E43G probably damaging Het
Dsc1 A T 18: 20,220,632 (GRCm39) V714E probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Egfem1 T C 3: 29,136,361 (GRCm39) probably null Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmo1 T C 1: 162,657,714 (GRCm39) T476A probably benign Het
Gm10237 T C 16: 35,741,099 (GRCm39) noncoding transcript Het
Gm14496 A G 2: 181,642,602 (GRCm39) S758G probably damaging Het
Gpat2 T A 2: 127,270,643 (GRCm39) L97Q probably damaging Het
Gpr162 T C 6: 124,836,600 (GRCm39) D357G probably benign Het
Hax1 A T 3: 89,905,262 (GRCm39) D34E probably damaging Het
Hmgcr C T 13: 96,791,404 (GRCm39) V97M probably benign Het
Hsd3b2 T C 3: 98,619,631 (GRCm39) T105A probably benign Het
Ints1 A G 5: 139,752,183 (GRCm39) probably null Het
Islr T C 9: 58,064,895 (GRCm39) E204G probably damaging Het
Lrrc36 A G 8: 106,151,996 (GRCm39) N60D probably damaging Het
Maf1 T C 15: 76,237,330 (GRCm39) probably benign Het
Mrgprb4 T A 7: 47,848,077 (GRCm39) R284W probably benign Het
Myh4 A T 11: 67,146,551 (GRCm39) N1508I possibly damaging Het
Nufip2 A G 11: 77,577,103 (GRCm39) H17R unknown Het
Oasl1 A T 5: 115,075,055 (GRCm39) I372L probably damaging Het
Or5ae1 T A 7: 84,565,357 (GRCm39) Y123* probably null Het
Or6p1 T C 1: 174,258,252 (GRCm39) L86P probably damaging Het
Pald1 A T 10: 61,184,440 (GRCm39) Y226N probably damaging Het
Pcdhb13 G T 18: 37,577,844 (GRCm39) G741C probably damaging Het
Pcdhga10 A G 18: 37,881,259 (GRCm39) D340G probably damaging Het
Pclo C A 5: 14,728,822 (GRCm39) probably benign Het
Pcsk4 G T 10: 80,159,523 (GRCm39) N416K probably damaging Het
Pde10a C A 17: 9,180,812 (GRCm39) R398S probably damaging Het
Plin1 T A 7: 79,375,469 (GRCm39) T227S possibly damaging Het
Pnpt1 A G 11: 29,104,166 (GRCm39) D542G probably damaging Het
Ppp4r3b T A 11: 29,161,646 (GRCm39) D673E probably benign Het
Prr18 C A 17: 8,559,892 (GRCm39) P16Q probably damaging Het
Psmc3 T A 2: 90,889,698 (GRCm39) Y440N probably damaging Het
Rassf5 T C 1: 131,108,385 (GRCm39) I232V probably benign Het
Rims1 T A 1: 22,577,592 (GRCm39) D218V probably damaging Het
Skint10 T C 4: 112,568,790 (GRCm39) N309S possibly damaging Het
Slc6a1 T C 6: 114,279,584 (GRCm39) M121T possibly damaging Het
Slit3 A G 11: 35,566,740 (GRCm39) D1004G probably damaging Het
Snap91 C T 9: 86,717,177 (GRCm39) V215I possibly damaging Het
Son T C 16: 91,452,627 (GRCm39) L458S probably damaging Het
St18 C T 1: 6,914,395 (GRCm39) A782V probably damaging Het
Synpo A G 18: 60,735,303 (GRCm39) probably null Het
Thbs3 A G 3: 89,128,684 (GRCm39) D458G probably damaging Het
Tpr C T 1: 150,321,675 (GRCm39) R3C probably damaging Het
Trp63 A G 16: 25,503,105 (GRCm39) probably null Het
Vmn1r27 C A 6: 58,192,581 (GRCm39) R141L probably benign Het
Wnk1 T C 6: 119,945,484 (GRCm39) I699V probably benign Het
Xkr6 A G 14: 64,056,353 (GRCm39) D88G possibly damaging Het
Zan A G 5: 137,379,050 (GRCm39) probably benign Het
Zbtb7b T C 3: 89,286,913 (GRCm39) probably benign Het
Zfp618 A T 4: 62,998,265 (GRCm39) D33V 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
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'- TGACTCTTGCACAGGGTAGG -3'
(R):5'- TGGGTTTCCTGTGAAAACGC -3'

Sequencing Primer
(F):5'- TAGGAGGATTGCTGGCTCCC -3'
(R):5'- GGGTTTCCTGTGAAAACGCATAAAC -3'
Posted On 2016-08-04