Incidental Mutation 'IGL01368:Acod1'
ID76017
Institutional Source Australian Phenomics Network (link to record)
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 #IGL01368
Quality Score
Status
Chromosome14
Chromosomal Location103046977-103056573 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103051334 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 93 (D93E)
Ref Sequence ENSEMBL: ENSMUSP00000022722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022722]
Predicted Effect probably damaging
Transcript: ENSMUST00000022722
AA Change: D93E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022722
Gene: ENSMUSG00000022126
AA Change: D93E

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,127,411 Y566C probably damaging Het
Atp8b3 G A 10: 80,534,229 probably benign Het
Babam1 T A 8: 71,398,406 D104E probably damaging Het
Bcl2a1a T A 9: 88,957,447 W133R probably damaging Het
Ckm C T 7: 19,416,787 Q184* probably null Het
Clk4 T A 11: 51,281,172 Y246* probably null Het
Cyp3a57 T C 5: 145,369,068 S121P probably damaging Het
Gm5039 C T 12: 88,321,088 D132N unknown Het
Gm5771 A G 6: 41,396,686 D161G possibly damaging Het
Gm8011 T C 14: 42,465,874 probably benign Het
Gpr153 T C 4: 152,282,994 F434S probably benign Het
Gpr158 G T 2: 21,827,098 W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,736,390 E34G probably damaging Het
Igkv16-104 G T 6: 68,425,610 R2S possibly damaging Het
Map3k3 T C 11: 106,150,389 F395L probably benign Het
Myof T A 19: 37,936,457 T1161S probably damaging Het
Nlrp9a T C 7: 26,557,874 S217P probably damaging Het
Nol9 T A 4: 152,058,391 N687K probably benign Het
Olfr287 T C 15: 98,207,500 I295V probably damaging Het
Olfr697 T C 7: 106,741,622 E104G probably benign Het
Olfr748 T C 14: 50,710,993 V221A possibly damaging Het
Olfr952 A T 9: 39,426,180 V297D probably damaging Het
Rrh T C 3: 129,808,969 D229G probably benign Het
Sclt1 T C 3: 41,711,175 T153A probably damaging Het
Slc41a1 G A 1: 131,839,124 V127I probably damaging Het
Smarca2 C T 19: 26,774,294 S214L possibly damaging Het
Tmem63a T C 1: 180,970,232 V616A possibly damaging Het
Ubr1 A G 2: 120,941,131 probably benign Het
Vmn1r228 A G 17: 20,776,512 L248P probably benign Het
Zdhhc16 T A 19: 41,941,506 probably null Het
Other mutations in Acod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7762:Acod1 UTSW 14 103051340 missense probably damaging 1.00
R8337:Acod1 UTSW 14 103049344 missense possibly damaging 0.76
R8725:Acod1 UTSW 14 103049639 missense probably damaging 1.00
R8778:Acod1 UTSW 14 103055482 missense probably benign
Posted On2013-10-07