Incidental Mutation 'R7762:Acod1'
ID597971
Institutional Source Beutler Lab
Gene Symbol Acod1
Ensembl Gene ENSMUSG00000022126
Gene Nameaconitate decarboxylase 1
SynonymsIrg1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7762 (G1)
Quality Score225.009
Status Validated
Chromosome14
Chromosomal Location103046977-103056573 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 103051340 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 95 (D95E)
Ref Sequence ENSEMBL: ENSMUSP00000022722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022722]
Predicted Effect probably damaging
Transcript: ENSMUST00000022722
AA Change: D95E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022722
Gene: ENSMUSG00000022126
AA Change: D95E

DomainStartEndE-ValueType
Pfam:MmgE_PrpD 7 450 1.8e-125 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (79/79)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik G A 6: 48,932,686 V622I probably benign Het
9130011E15Rik A G 19: 45,940,443 probably null Het
Agpat4 A G 17: 12,210,322 T154A possibly damaging Het
Ahnak2 A T 12: 112,775,680 S653T probably benign Het
Aox2 C T 1: 58,349,104 P1124S probably damaging Het
Atp4a T C 7: 30,720,036 I637T probably damaging Het
Atxn7 T A 14: 14,100,467 C718S probably damaging Het
Btbd2 T A 10: 80,643,556 I516F probably damaging Het
Card6 A G 15: 5,105,338 S128P probably benign Het
Cat T C 2: 103,456,858 K476E probably benign Het
Ccr9 A T 9: 123,779,957 T235S probably benign Het
Cep55 T G 19: 38,069,069 probably null Het
Clec2e A G 6: 129,095,128 F96S possibly damaging Het
Clk2 G A 3: 89,167,191 V53I probably benign Het
Clnk T C 5: 38,768,141 M106V probably benign Het
Col6a5 T C 9: 105,931,324 I842V unknown Het
Csf1r A T 18: 61,110,500 N196I probably benign Het
D5Ertd579e A T 5: 36,613,381 N116K Het
Dnaja4 A G 9: 54,709,210 I166V probably benign Het
Dqx1 A G 6: 83,061,032 E467G probably damaging Het
Dync2h1 T C 9: 7,129,719 T1760A probably benign Het
Eea1 T C 10: 96,028,439 V940A probably benign Het
Egr1 T A 18: 34,863,545 V460E probably damaging Het
Eral1 A G 11: 78,074,533 I352T possibly damaging Het
F2 T C 2: 91,628,696 H476R possibly damaging Het
Fam83b A G 9: 76,492,432 V463A possibly damaging Het
Fat1 T C 8: 45,023,322 S1802P probably damaging Het
Fat1 T A 8: 45,037,337 L3762H probably damaging Het
Fibp A T 19: 5,464,174 N296Y probably benign Het
Figla A G 6: 86,017,326 M28V probably benign Het
Foxd3 C A 4: 99,657,125 Y167* probably null Het
Gm17019 T A 5: 15,030,992 H145L probably benign Het
Gm340 T C 19: 41,583,667 L287S probably benign Het
Gm48552 C T 10: 81,390,435 P18L probably damaging Het
Gm9573 G A 17: 35,622,085 T403I unknown Het
H2-Q6 A G 17: 35,428,101 N283S probably benign Het
Hrh2 T A 13: 54,214,039 C11* probably null Het
Hrnr G T 3: 93,332,199 G3248V unknown Het
Iapp C A 6: 142,303,396 N58K possibly damaging Het
Itga5 T C 15: 103,349,757 N837S probably benign Het
Klhl35 C A 7: 99,468,440 H64N probably benign Het
Lrba T A 3: 86,532,201 V2015E probably damaging Het
Mdn1 T C 4: 32,734,421 I3276T probably benign Het
Mlh3 G T 12: 85,268,284 T376K possibly damaging Het
Nbea A T 3: 55,649,705 H2550Q probably damaging Het
Nid1 G A 13: 13,489,045 G763D probably damaging Het
Ntf5 C A 7: 45,415,819 A125E probably damaging Het
Obsl1 A T 1: 75,503,523 C460S probably benign Het
Olfr1272 T A 2: 90,296,631 K77* probably null Het
Olfr130 G A 17: 38,067,675 C168Y probably damaging Het
Olfr1380 T A 11: 49,564,761 I280N possibly damaging Het
Olfr1496 A T 19: 13,781,286 R223W probably damaging Het
Olfr348 A T 2: 36,787,010 I162F probably benign Het
Olfr820 A G 10: 130,017,181 probably benign Het
Olfr933 G A 9: 38,976,194 V173I probably benign Het
Orai3 G A 7: 127,773,571 G130S unknown Het
Pcdhb12 T G 18: 37,435,924 V41G probably damaging Het
Plec A T 15: 76,183,623 L1194Q unknown Het
Pml C A 9: 58,220,173 C763F probably damaging Het
Prdm15 T A 16: 97,818,273 I318F probably benign Het
Rcbtb2 C A 14: 73,178,466 T473N probably benign Het
Sbno1 T A 5: 124,374,666 I1347F probably benign Het
Secisbp2l C T 2: 125,768,193 D269N probably damaging Het
Serpina9 A T 12: 104,001,316 F273L probably damaging Het
Sgms2 T A 3: 131,323,249 Y319F probably benign Het
Sgo2b A T 8: 63,926,497 H1100Q probably benign Het
Sh3bp5l A T 11: 58,345,928 probably null Het
Shh T G 5: 28,466,666 K33T probably benign Het
Slc5a9 A G 4: 111,890,174 Y339H probably damaging Het
Spice1 T A 16: 44,370,501 probably null Het
Tbx2 A G 11: 85,835,901 E257G probably damaging Het
Tenm2 G A 11: 36,023,306 T2468I possibly damaging Het
Tmeff2 A T 1: 50,979,416 N186Y probably benign Het
Tmem132c T C 5: 127,554,696 V673A possibly damaging Het
Trappc11 G T 8: 47,522,376 T269K probably damaging Het
Trpc6 T C 9: 8,653,149 F652S possibly damaging Het
Trpv1 G T 11: 73,254,222 K711N probably benign Het
Vcan G T 13: 89,692,937 P1496Q probably damaging Het
Vmn1r192 G T 13: 22,187,675 A125E probably damaging Het
Vti1b A T 12: 79,164,946 probably null Het
Vwa3b A C 1: 37,124,045 D583A probably damaging Het
Zfp638 T C 6: 83,976,272 S1120P probably damaging Het
Zfyve26 A T 12: 79,268,635 F1356I probably benign Het
Other mutations in Acod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Acod1 APN 14 103051334 missense probably damaging 1.00
IGL01450:Acod1 APN 14 103051483 missense possibly damaging 0.77
IGL01624:Acod1 APN 14 103055233 missense probably benign 0.03
IGL03323:Acod1 APN 14 103055294 missense probably damaging 1.00
R0049:Acod1 UTSW 14 103055207 missense possibly damaging 0.94
R0049:Acod1 UTSW 14 103055207 missense possibly damaging 0.94
R0304:Acod1 UTSW 14 103054982 missense probably damaging 0.97
R0321:Acod1 UTSW 14 103055129 missense probably benign 0.13
R0520:Acod1 UTSW 14 103051516 missense possibly damaging 0.78
R1467:Acod1 UTSW 14 103054567 missense probably benign 0.00
R1467:Acod1 UTSW 14 103054567 missense probably benign 0.00
R1541:Acod1 UTSW 14 103049333 missense probably damaging 0.98
R2511:Acod1 UTSW 14 103051339 missense probably damaging 1.00
R3856:Acod1 UTSW 14 103055446 missense possibly damaging 0.92
R4616:Acod1 UTSW 14 103055345 missense probably benign 0.10
R4671:Acod1 UTSW 14 103047072 missense probably benign 0.15
R5080:Acod1 UTSW 14 103049308 missense possibly damaging 0.83
R5206:Acod1 UTSW 14 103055295 missense possibly damaging 0.90
R5992:Acod1 UTSW 14 103055035 missense probably damaging 1.00
R7228:Acod1 UTSW 14 103049329 missense probably benign 0.04
R7585:Acod1 UTSW 14 103054741 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTTTGACAGAGAGCAGGGAC -3'
(R):5'- TGGCTTCCTTGGAGAAGTGC -3'

Sequencing Primer
(F):5'- TTAAGAACCACAGCCAGTTAATGCTG -3'
(R):5'- CCTTGGAGAAGTGCATTAATCGTCC -3'
Posted On2019-11-26