Incidental Mutation 'R1889:Aco1'
ID 209805
Institutional Source Beutler Lab
Gene Symbol Aco1
Ensembl Gene ENSMUSG00000028405
Gene Name aconitase 1
Synonyms Irp1, Aco-1, Irebp
MMRRC Submission 039910-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R1889 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 40143081-40198338 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 40164607 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152911
Meta Mutation Damage Score 0.9501 question?
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.2%
  • 10x: 93.6%
  • 20x: 88.0%
Validation Efficiency 97% (103/106)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,034,815 (GRCm39) noncoding transcript Het
9130008F23Rik T C 17: 41,191,193 (GRCm39) R79G probably damaging Het
Acp6 C T 3: 97,073,201 (GRCm39) R81W probably damaging Het
Agbl1 A C 7: 76,239,129 (GRCm39) Y543S probably damaging Het
Anapc7 T C 5: 122,571,539 (GRCm39) W205R probably damaging Het
Ap1g2 T A 14: 55,338,886 (GRCm39) M532L probably damaging Het
Appl1 A G 14: 26,647,470 (GRCm39) probably benign Het
Arhgef19 T C 4: 140,976,624 (GRCm39) F462S probably damaging Het
Astn1 A G 1: 158,332,886 (GRCm39) probably null Het
AU015836 T C X: 93,012,985 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cadm2 T C 16: 66,679,683 (GRCm39) D50G probably damaging Het
Ccdc81 G A 7: 89,531,502 (GRCm39) Q324* probably null Het
Cd300lf A G 11: 115,011,206 (GRCm39) V178A probably benign Het
Cdt1 T C 8: 123,298,791 (GRCm39) V476A possibly damaging Het
Cenpj A G 14: 56,796,182 (GRCm39) V225A probably benign Het
Cep295 T C 9: 15,243,399 (GRCm39) T1686A possibly damaging Het
Cfap54 A G 10: 92,870,572 (GRCm39) S684P possibly damaging Het
Clip1 C A 5: 123,791,559 (GRCm39) V204F probably damaging Het
Cnpy4 A G 5: 138,191,102 (GRCm39) E226G probably benign Het
Col6a3 T A 1: 90,731,433 (GRCm39) M1000L probably benign Het
Cpsf1 T C 15: 76,486,356 (GRCm39) M335V probably benign Het
Dnmt3b C A 2: 153,518,679 (GRCm39) A614E probably benign Het
Dpm1 C T 2: 168,059,655 (GRCm39) R147Q possibly damaging Het
Dpp7 G T 2: 25,243,691 (GRCm39) probably null Het
Engase T C 11: 118,369,759 (GRCm39) F57S probably damaging Het
Epb41l5 T C 1: 119,476,902 (GRCm39) D718G possibly damaging Het
Fam20a T C 11: 109,564,380 (GRCm39) K458E probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gkn2 T A 6: 87,355,137 (GRCm39) Y115* probably null Het
Gtdc1 A G 2: 44,481,926 (GRCm39) S246P probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Herc2 C T 7: 55,839,561 (GRCm39) S3357L possibly damaging Het
Herc6 T A 6: 57,639,060 (GRCm39) Y840* probably null Het
Hoxa10 GGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTG 6: 52,211,472 (GRCm39) probably benign Het
Ift122 T C 6: 115,871,382 (GRCm39) probably null Het
Ilf3 T A 9: 21,316,063 (GRCm39) probably benign Het
Itgb2 A T 10: 77,384,457 (GRCm39) N193Y possibly damaging Het
Itgb5 T G 16: 33,730,839 (GRCm39) I65S probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Kcnt2 A T 1: 140,512,031 (GRCm39) H995L probably damaging Het
Kif20b T C 19: 34,918,608 (GRCm39) probably benign Het
Kif7 T C 7: 79,360,211 (GRCm39) Y342C probably damaging Het
Klhl21 T C 4: 152,099,877 (GRCm39) V529A possibly damaging Het
Klhl26 T C 8: 70,904,383 (GRCm39) D475G probably damaging Het
Lcor T C 19: 41,547,567 (GRCm39) Y384H probably damaging Het
Lrp1b A T 2: 40,809,179 (GRCm39) C2463* probably null Het
Marchf6 T C 15: 31,459,339 (GRCm39) E909G possibly damaging Het
Mrc1 A T 2: 14,313,488 (GRCm39) probably null Het
Mtrex T C 13: 113,024,024 (GRCm39) N707S probably benign Het
Nipal4 T A 11: 46,041,560 (GRCm39) I212F probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Nwd2 A G 5: 63,965,009 (GRCm39) E1531G possibly damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Opa1 T C 16: 29,444,403 (GRCm39) V863A possibly damaging Het
Or5ac22 T G 16: 59,135,326 (GRCm39) Y148S probably damaging Het
Pabpc4l A T 3: 46,400,798 (GRCm39) M282K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcnx3 T C 19: 5,722,684 (GRCm39) D1336G probably damaging Het
Phlpp1 T C 1: 106,246,580 (GRCm39) V590A possibly damaging Het
Rbck1 T A 2: 152,160,276 (GRCm39) T468S probably damaging Het
Ripor2 T A 13: 24,877,870 (GRCm39) I290N probably damaging Het
Rnf139 T C 15: 58,771,346 (GRCm39) L457P probably damaging Het
Rtn1 C A 12: 72,351,184 (GRCm39) A342S possibly damaging Het
Sema3d A G 5: 12,534,988 (GRCm39) probably null Het
Serpinb2 T A 1: 107,452,337 (GRCm39) V305D probably damaging Het
Sez6l2 T C 7: 126,552,668 (GRCm39) V148A probably damaging Het
Shank2 C A 7: 143,740,595 (GRCm39) S568* probably null Het
Slc10a4 T C 5: 73,169,490 (GRCm39) S372P possibly damaging Het
Slc10a5 T C 3: 10,400,550 (GRCm39) T37A probably benign Het
Slc14a1 T C 18: 78,152,912 (GRCm39) I276V possibly damaging Het
Slc6a20b G T 9: 123,461,269 (GRCm39) D52E probably benign Het
Slc6a5 T C 7: 49,601,182 (GRCm39) M661T probably benign Het
Ssh2 C G 11: 77,340,571 (GRCm39) D574E probably damaging Het
Steap4 G T 5: 8,025,892 (GRCm39) R151L probably damaging Het
Sun5 T A 2: 153,707,915 (GRCm39) I107L probably benign Het
Tacc1 C T 8: 25,665,269 (GRCm39) V488M probably damaging Het
Tgs1 A G 4: 3,614,928 (GRCm39) T829A probably benign Het
Tnxb A G 17: 34,914,799 (GRCm39) E1929G probably damaging Het
Tssc4 A C 7: 142,624,292 (GRCm39) Q200P probably damaging Het
Ttn A G 2: 76,588,876 (GRCm39) W21398R probably damaging Het
Usp50 C T 2: 126,619,818 (GRCm39) probably null Het
Usp9y A T Y: 1,448,829 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,632 (GRCm39) F33I probably benign Het
Zfat T C 15: 67,973,388 (GRCm39) T1118A probably benign 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
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'- AGACTGATCATGAGCTGTGATGAC -3'
(R):5'- AGTCTTGCAGTATGACTCGG -3'

Sequencing Primer
(F):5'- CATGAGCTGTGATGACTTAATAGG -3'
(R):5'- ATGACTCGGGCTGGCTTAAAC -3'
Posted On 2014-06-30