|Institutional Source||Beutler Lab|
|Gene Name||aconitase 1|
|Synonyms||Irp1, Irebp, Aco-1|
|Is this an essential gene?||Possibly non essential (E-score: 0.458)|
|Stock #||R3155 (G1)|
|Chromosomal Location||40143081-40198338 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 40182915 bp|
|Amino Acid Change||Valine to Alanine at position 487 (V487A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000100038 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102973]|
|Predicted Effect||probably damaging
AA Change: V487A
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: V487A
|Meta Mutation Damage Score||0.342|
|Coding Region Coverage||
|Validation Efficiency||100% (39/39)|
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||
|Other mutations in Aco1||
(F):5'- TTTGATCTGCCAGTCAAGAAGTG -3'
(R):5'- GCCCAGGGTTCACTCTTGTATG -3'
(F):5'- TCTGCCAGTCAAGAAGTGTAACTG -3'
(R):5'- ATGTATGATGGATGGGCCCC -3'