Incidental Mutation 'IGL03408:Aco2'
ID 421685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aco2
Ensembl Gene ENSMUSG00000022477
Gene Name aconitase 2, mitochondrial
Synonyms Aco3, Irp1, D10Wsu183e, Aco-2
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL03408
Quality Score
Status
Chromosome 15
Chromosomal Location 81756664-81799338 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 81783424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023116] [ENSMUST00000229068] [ENSMUST00000231091]
AlphaFold Q99KI0
Predicted Effect probably null
Transcript: ENSMUST00000023116
SMART Domains Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477

DomainStartEndE-ValueType
Pfam:Aconitase 65 503 2.2e-160 PFAM
Pfam:Aconitase_C 582 712 5e-50 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000229068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231075
Predicted Effect probably benign
Transcript: ENSMUST00000231091
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,303,954 (GRCm39) F2108I probably damaging Het
Ccdc186 T C 19: 56,787,163 (GRCm39) K602E probably benign Het
Ccdc85a T A 11: 28,526,528 (GRCm39) H360L probably damaging Het
Cited2 A G 10: 17,600,148 (GRCm39) H152R possibly damaging Het
Cluh C A 11: 74,556,779 (GRCm39) R940S probably benign Het
Corin T A 5: 72,500,304 (GRCm39) Y432F probably benign Het
Creb1 A G 1: 64,615,491 (GRCm39) probably null Het
Dhx15 A T 5: 52,317,654 (GRCm39) D568E probably damaging Het
Efcab3 T A 11: 104,601,447 (GRCm39) S253R probably benign Het
Esam G T 9: 37,445,949 (GRCm39) R162S possibly damaging Het
Fat3 T A 9: 15,909,253 (GRCm39) K2250* probably null Het
Fbxl17 G A 17: 63,387,541 (GRCm39) R133* probably null Het
Gzmc C T 14: 56,471,473 (GRCm39) G23R probably damaging Het
Idh3a A G 9: 54,504,206 (GRCm39) N189D probably benign Het
Il31ra A T 13: 112,662,422 (GRCm39) D462E probably benign Het
Inava T C 1: 136,142,143 (GRCm39) Y652C probably benign Het
Inpp5j G A 11: 3,452,809 (GRCm39) A147V possibly damaging Het
Kalrn G A 16: 34,134,546 (GRCm39) A412V probably damaging Het
Lrp1b A G 2: 40,748,594 (GRCm39) V2968A probably damaging Het
Morc1 G A 16: 48,262,775 (GRCm39) G42R probably damaging Het
Notch4 T C 17: 34,784,542 (GRCm39) L85P probably benign Het
Or4c52 G A 2: 89,845,915 (GRCm39) V214M probably benign Het
Or5p73 A T 7: 108,064,554 (GRCm39) N8Y probably damaging Het
Parp4 T A 14: 56,839,865 (GRCm39) H524Q probably damaging Het
Pole T C 5: 110,442,426 (GRCm39) F285L probably damaging Het
Scn9a A G 2: 66,357,091 (GRCm39) M1070T probably benign Het
Slc25a32 G A 15: 38,963,425 (GRCm39) A132V probably benign Het
Sult2a2 T G 7: 13,472,154 (GRCm39) I117S probably damaging Het
Suv39h2 T C 2: 3,460,913 (GRCm39) N183S probably damaging Het
Trhr2 G A 8: 123,085,534 (GRCm39) T150M probably damaging Het
Usp34 T A 11: 23,396,957 (GRCm39) F614I possibly damaging Het
Vmn2r17 A G 5: 109,577,238 (GRCm39) probably benign Het
Wfdc2 T A 2: 164,405,283 (GRCm39) C61* probably null Het
Zfp384 T C 6: 125,012,676 (GRCm39) S377P probably damaging Het
Zfp945 A T 17: 23,071,511 (GRCm39) Y150* probably null Het
Other mutations in Aco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Aco2 APN 15 81,797,915 (GRCm39) missense possibly damaging 0.88
IGL02450:Aco2 APN 15 81,798,963 (GRCm39) makesense probably null
ANU22:Aco2 UTSW 15 81,797,915 (GRCm39) missense possibly damaging 0.88
R0066:Aco2 UTSW 15 81,787,666 (GRCm39) splice site probably benign
R0066:Aco2 UTSW 15 81,787,666 (GRCm39) splice site probably benign
R0254:Aco2 UTSW 15 81,773,557 (GRCm39) missense probably damaging 0.99
R0408:Aco2 UTSW 15 81,797,319 (GRCm39) splice site probably null
R0535:Aco2 UTSW 15 81,797,418 (GRCm39) missense possibly damaging 0.76
R0839:Aco2 UTSW 15 81,791,736 (GRCm39) splice site probably null
R1199:Aco2 UTSW 15 81,779,394 (GRCm39) missense probably damaging 1.00
R1201:Aco2 UTSW 15 81,779,394 (GRCm39) missense probably damaging 1.00
R1320:Aco2 UTSW 15 81,779,394 (GRCm39) missense probably damaging 1.00
R1321:Aco2 UTSW 15 81,779,394 (GRCm39) missense probably damaging 1.00
R1322:Aco2 UTSW 15 81,779,394 (GRCm39) missense probably damaging 1.00
R2082:Aco2 UTSW 15 81,797,896 (GRCm39) missense possibly damaging 0.83
R2275:Aco2 UTSW 15 81,779,465 (GRCm39) missense probably benign 0.37
R2297:Aco2 UTSW 15 81,788,109 (GRCm39) missense probably damaging 1.00
R4414:Aco2 UTSW 15 81,773,584 (GRCm39) splice site probably null
R4497:Aco2 UTSW 15 81,779,486 (GRCm39) missense probably damaging 1.00
R4498:Aco2 UTSW 15 81,779,486 (GRCm39) missense probably damaging 1.00
R4708:Aco2 UTSW 15 81,794,117 (GRCm39) critical splice donor site probably null
R5556:Aco2 UTSW 15 81,773,520 (GRCm39) missense probably damaging 1.00
R5568:Aco2 UTSW 15 81,787,787 (GRCm39) missense probably damaging 0.99
R6103:Aco2 UTSW 15 81,797,452 (GRCm39) missense probably benign 0.00
R6912:Aco2 UTSW 15 81,779,597 (GRCm39) missense probably benign
R7319:Aco2 UTSW 15 81,787,820 (GRCm39) missense probably damaging 1.00
R7552:Aco2 UTSW 15 81,788,142 (GRCm39) missense probably damaging 1.00
R7585:Aco2 UTSW 15 81,756,685 (GRCm39) unclassified probably benign
R8792:Aco2 UTSW 15 81,793,697 (GRCm39) missense probably damaging 1.00
R8838:Aco2 UTSW 15 81,796,128 (GRCm39) missense probably damaging 0.97
R8957:Aco2 UTSW 15 81,773,701 (GRCm39) intron probably benign
R9014:Aco2 UTSW 15 81,798,857 (GRCm39) missense probably benign
R9037:Aco2 UTSW 15 81,756,620 (GRCm39) unclassified probably benign
R9038:Aco2 UTSW 15 81,756,620 (GRCm39) unclassified probably benign
R9039:Aco2 UTSW 15 81,756,620 (GRCm39) unclassified probably benign
R9562:Aco2 UTSW 15 81,773,635 (GRCm39) missense probably null 0.30
R9565:Aco2 UTSW 15 81,773,635 (GRCm39) missense probably null 0.30
Z1177:Aco2 UTSW 15 81,779,513 (GRCm39) missense probably damaging 0.99
Z1177:Aco2 UTSW 15 81,779,511 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02