Incidental Mutation 'R5080:Acod1'
ID 387096
Institutional Source Beutler Lab
Gene Symbol Acod1
Ensembl Gene ENSMUSG00000022126
Gene Name aconitate decarboxylase 1
Synonyms Irg1
MMRRC Submission 042669-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5080 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 103284448-103294009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103286744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 16 (G16S)
Ref Sequence ENSEMBL: ENSMUSP00000022722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022722]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022722
AA Change: G16S

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022722
Gene: ENSMUSG00000022126
AA Change: G16S

DomainStartEndE-ValueType
Pfam:MmgE_PrpD 7 450 1.8e-125 PFAM
Meta Mutation Damage Score 0.0783 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 96% (54/56)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,009,832 (GRCm39) M740K probably damaging Het
Atp1a2 T C 1: 172,112,012 (GRCm39) probably benign Het
Atrn T A 2: 130,812,044 (GRCm39) I663N possibly damaging Het
Cacna2d1 T C 5: 16,567,394 (GRCm39) probably null Het
Carf C A 1: 60,189,772 (GRCm39) Q631K probably damaging Het
Ces1d T C 8: 93,908,175 (GRCm39) D306G probably benign Het
Corin T A 5: 72,511,194 (GRCm39) probably benign Het
Csf1r T C 18: 61,257,373 (GRCm39) F575L probably damaging Het
Dcaf6 T C 1: 165,247,690 (GRCm39) D181G probably damaging Het
Dnah11 C T 12: 118,162,565 (GRCm39) M1I probably null Het
Dnah7b C T 1: 46,221,540 (GRCm39) R1215* probably null Het
Dpp3 T A 19: 4,965,108 (GRCm39) D464V probably benign Het
Drosha C A 15: 12,842,229 (GRCm39) A344D probably benign Het
Fat3 G T 9: 15,910,634 (GRCm39) S1789R probably benign Het
Fhip2a A T 19: 57,361,713 (GRCm39) K134I probably damaging Het
Frg2f1 T C 4: 119,388,230 (GRCm39) T90A possibly damaging Het
Frrs1 T C 3: 116,696,585 (GRCm39) I544T probably benign Het
Gm20939 T C 17: 95,184,419 (GRCm39) C356R probably damaging Het
Ifi206 T A 1: 173,301,414 (GRCm39) I755F possibly damaging Het
Kntc1 T A 5: 123,900,649 (GRCm39) V249E possibly damaging Het
Lama5 A T 2: 179,848,993 (GRCm39) L230* probably null Het
Lce1e C T 3: 92,615,137 (GRCm39) C70Y unknown Het
Ltbp2 T C 12: 84,850,638 (GRCm39) N892S probably damaging Het
Mfsd4b5 T A 10: 39,846,570 (GRCm39) M337L probably damaging Het
Noxo1 T A 17: 24,918,331 (GRCm39) C164S probably damaging Het
Or2y1b G T 11: 49,208,914 (GRCm39) M180I probably benign Het
Or5j3 G A 2: 86,128,258 (GRCm39) V33M probably benign Het
Osbpl6 T C 2: 76,354,429 (GRCm39) S15P probably benign Het
Pcdh17 A G 14: 84,770,750 (GRCm39) Y1076C probably benign Het
Pik3c2a T A 7: 115,947,509 (GRCm39) H1391L probably damaging Het
Plcg2 A G 8: 118,316,742 (GRCm39) Y573C probably benign Het
Prpf3 T A 3: 95,741,109 (GRCm39) H600L probably benign Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Rpl15-ps6 A G 15: 52,341,446 (GRCm39) noncoding transcript Het
Serpini1 T C 3: 75,523,967 (GRCm39) S192P probably damaging Het
Sp110 G T 1: 85,523,776 (GRCm39) Y18* probably null Het
Stard6 A T 18: 70,629,293 (GRCm39) I126F probably damaging Het
Strip2 T A 6: 29,945,592 (GRCm39) L660H probably damaging Het
Tmed3 G A 9: 89,581,825 (GRCm39) R213* probably null Het
Tns1 G T 1: 73,992,099 (GRCm39) P860T probably damaging Het
Togaram1 T C 12: 65,030,177 (GRCm39) S994P probably benign Het
Tomm34 G A 2: 163,912,816 (GRCm39) probably benign Het
Trank1 G A 9: 111,218,289 (GRCm39) E1890K probably damaging Het
Wasf3 C T 5: 146,397,907 (GRCm39) H225Y probably benign Het
Wdr37 A T 13: 8,897,710 (GRCm39) probably null Het
Zbtb7c A C 18: 76,270,413 (GRCm39) D167A probably benign Het
Zkscan4 A G 13: 21,665,498 (GRCm39) T158A 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
IGL03323:Acod1 APN 14 103,292,730 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTCCTCATGCCTAACGAGG -3'
(R):5'- TCTTCATCCTGGAGGCACTG -3'

Sequencing Primer
(F):5'- CCTAGTGTGCATTGCTTTGTAGAAAG -3'
(R):5'- ATCCTGGAGGCACTGTGTCG -3'
Posted On 2016-06-06