Incidental Mutation 'IGL03323:Acod1'
ID 416545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acod1
Ensembl Gene ENSMUSG00000022126
Gene Name aconitate decarboxylase 1
Synonyms Irg1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03323
Quality Score
Status
Chromosome 14
Chromosomal Location 103284448-103294009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103292730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 418 (D418V)
Ref Sequence ENSEMBL: ENSMUSP00000022722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022722]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022722
AA Change: D418V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022722
Gene: ENSMUSG00000022126
AA Change: D418V

DomainStartEndE-ValueType
Pfam:MmgE_PrpD 7 450 1.8e-125 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: LPS-stimulated bone marrow macrophages derived from homozygous null mice fail to produce itaconate and exhibit significantly decreased succinate accumulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 132,792,739 (GRCm39) G1327S probably benign Het
Bcl2l15 A T 3: 103,740,719 (GRCm39) I62L probably benign Het
Ccdc7a A T 8: 129,785,244 (GRCm39) D105E probably benign Het
Cldn12 C A 5: 5,558,421 (GRCm39) G2V probably damaging Het
Eapp G T 12: 54,720,400 (GRCm39) H272N probably damaging Het
Fcrla A G 1: 170,755,114 (GRCm39) probably benign Het
Fmnl3 C T 15: 99,219,162 (GRCm39) G787S probably damaging Het
Fmo5 G T 3: 97,546,323 (GRCm39) probably null Het
Golgb1 G T 16: 36,733,815 (GRCm39) E1021* probably null Het
Hspa4 A T 11: 53,155,960 (GRCm39) N648K probably benign Het
Iigp1 T C 18: 60,522,896 (GRCm39) F5L probably benign Het
Lad1 T A 1: 135,758,712 (GRCm39) probably null Het
Man2b2 T C 5: 36,975,858 (GRCm39) D399G probably benign Het
Mc5r C T 18: 68,472,286 (GRCm39) T215I probably benign Het
Mx2 A G 16: 97,347,575 (GRCm39) S156G probably damaging Het
Necap2 A T 4: 140,795,533 (GRCm39) I242N possibly damaging Het
Nme8 C T 13: 19,873,120 (GRCm39) E175K probably benign Het
Notch4 T A 17: 34,801,445 (GRCm39) C1098S probably damaging Het
Or1j16 T A 2: 36,530,153 (GRCm39) M34K possibly damaging Het
Or7a42 T C 10: 78,791,434 (GRCm39) Y132H probably benign Het
Osbpl9 A G 4: 108,919,656 (GRCm39) probably benign Het
Prag1 T C 8: 36,607,162 (GRCm39) S968P probably damaging Het
Qsox2 A G 2: 26,110,991 (GRCm39) S125P probably benign Het
Rptn A G 3: 93,304,460 (GRCm39) T598A probably benign Het
Slc2a2 G A 3: 28,780,439 (GRCm39) M375I probably damaging Het
Tmed9 C T 13: 55,744,691 (GRCm39) T173I probably damaging Het
Trank1 A G 9: 111,181,184 (GRCm39) D402G probably damaging Het
Ttc21a G T 9: 119,769,602 (GRCm39) probably benign Het
Vmn2r58 T C 7: 41,511,295 (GRCm39) M503V probably benign Het
Other mutations in Acod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Acod1 APN 14 103,288,770 (GRCm39) missense probably damaging 1.00
IGL01450:Acod1 APN 14 103,288,919 (GRCm39) missense possibly damaging 0.77
IGL01624:Acod1 APN 14 103,292,669 (GRCm39) missense probably benign 0.03
R0049:Acod1 UTSW 14 103,292,643 (GRCm39) missense possibly damaging 0.94
R0049:Acod1 UTSW 14 103,292,643 (GRCm39) missense possibly damaging 0.94
R0304:Acod1 UTSW 14 103,292,418 (GRCm39) missense probably damaging 0.97
R0321:Acod1 UTSW 14 103,292,565 (GRCm39) missense probably benign 0.13
R0520:Acod1 UTSW 14 103,288,952 (GRCm39) missense possibly damaging 0.78
R1467:Acod1 UTSW 14 103,292,003 (GRCm39) missense probably benign 0.00
R1467:Acod1 UTSW 14 103,292,003 (GRCm39) missense probably benign 0.00
R1541:Acod1 UTSW 14 103,286,769 (GRCm39) missense probably damaging 0.98
R2511:Acod1 UTSW 14 103,288,775 (GRCm39) missense probably damaging 1.00
R3856:Acod1 UTSW 14 103,292,882 (GRCm39) missense possibly damaging 0.92
R4616:Acod1 UTSW 14 103,292,781 (GRCm39) missense probably benign 0.10
R4671:Acod1 UTSW 14 103,284,508 (GRCm39) missense probably benign 0.15
R5080:Acod1 UTSW 14 103,286,744 (GRCm39) missense possibly damaging 0.83
R5206:Acod1 UTSW 14 103,292,731 (GRCm39) missense possibly damaging 0.90
R5992:Acod1 UTSW 14 103,292,471 (GRCm39) missense probably damaging 1.00
R7228:Acod1 UTSW 14 103,286,765 (GRCm39) missense probably benign 0.04
R7585:Acod1 UTSW 14 103,292,177 (GRCm39) nonsense probably null
R7762:Acod1 UTSW 14 103,288,776 (GRCm39) missense probably damaging 1.00
R8337:Acod1 UTSW 14 103,286,780 (GRCm39) missense possibly damaging 0.76
R8725:Acod1 UTSW 14 103,287,075 (GRCm39) missense probably damaging 1.00
R8778:Acod1 UTSW 14 103,292,918 (GRCm39) missense probably benign
R9210:Acod1 UTSW 14 103,292,526 (GRCm39) missense possibly damaging 0.95
R9432:Acod1 UTSW 14 103,292,414 (GRCm39) missense probably damaging 0.96
R9547:Acod1 UTSW 14 103,292,294 (GRCm39) missense probably benign 0.03
R9563:Acod1 UTSW 14 103,287,109 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02