Incidental Mutation 'IGL02724:Acmsd'
ID305083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acmsd
Ensembl Gene ENSMUSG00000026348
Gene Nameamino carboxymuconate semialdehyde decarboxylase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02724
Quality Score
Status
Chromosome1
Chromosomal Location127729413-127767978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 127749085 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 116 (T116S)
Ref Sequence ENSEMBL: ENSMUSP00000048482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038006]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038006
AA Change: T116S

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048482
Gene: ENSMUSG00000026348
AA Change: T116S

DomainStartEndE-ValueType
Pfam:Amidohydro_2 3 330 7.8e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188163
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T G 2: 93,845,776 K85Q probably damaging Het
Agrn T A 4: 156,172,807 K1189* probably null Het
Alk T C 17: 71,985,460 R508G probably benign Het
Arhgap23 T A 11: 97,491,179 Y1123N probably damaging Het
Arl6ip5 G T 6: 97,232,404 M133I probably benign Het
Axin2 G A 11: 108,942,946 G573D possibly damaging Het
B4galt2 A G 4: 117,876,878 probably null Het
Baz2b G T 2: 59,977,374 D180E possibly damaging Het
Btnl6 G T 17: 34,508,175 Y460* probably null Het
C530008M17Rik T C 5: 76,858,459 V889A unknown Het
Cct7 A T 6: 85,459,149 D14V probably damaging Het
Cd55 T A 1: 130,449,412 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh2 C T 18: 16,629,480 R526Q probably benign Het
Chil1 A C 1: 134,189,243 E315A probably damaging Het
Cmya5 A G 13: 93,096,655 S642P probably benign Het
Cpm C A 10: 117,629,851 T43K probably damaging Het
Cyp8b1 A T 9: 121,915,387 V293D probably benign Het
Dock1 T G 7: 135,163,353 D1691E probably benign Het
Fasn T C 11: 120,809,833 D2120G probably benign Het
Gal3st4 T C 5: 138,265,417 K440R probably benign Het
Gfpt1 A T 6: 87,056,182 K130* probably null Het
Gpr26 T C 7: 131,974,392 probably null Het
Htr2a A T 14: 74,645,062 I163F probably damaging Het
Insrr A G 3: 87,809,572 D673G probably benign Het
Ipo8 G T 6: 148,791,481 C636* probably null Het
Kirrel C A 3: 87,090,473 E248* probably null Het
Lrp6 A G 6: 134,484,265 V743A probably damaging Het
Lrrc45 C A 11: 120,718,318 S374R probably benign Het
Map3k9 G A 12: 81,724,742 P714S probably benign Het
Mrgprb8 T A 7: 48,389,373 L264Q possibly damaging Het
Mroh4 C A 15: 74,606,151 W902L probably benign Het
Nfat5 T A 8: 107,358,735 D535E probably damaging Het
Nfatc3 T C 8: 106,108,185 V713A probably benign Het
Npc1l1 C T 11: 6,214,684 V1122M possibly damaging Het
Nsg2 A G 11: 32,055,011 probably null Het
Olfr1211 C A 2: 88,929,448 R289L probably damaging Het
Olfr282 T A 15: 98,437,779 F103L probably benign Het
Pax9 A T 12: 56,709,819 H314L possibly damaging Het
Phf21a A T 2: 92,360,247 I584F probably damaging Het
Pip5k1c A G 10: 81,313,462 E536G probably benign Het
Plekhm3 A G 1: 64,795,117 S736P probably damaging Het
Ppil2 A G 16: 17,103,602 Y73H probably benign Het
Ppp3cb T A 14: 20,523,577 probably null Het
Prdm9 A T 17: 15,563,260 S14R probably benign Het
Proc A G 18: 32,134,872 I71T probably damaging Het
Prom2 T A 2: 127,538,657 probably benign Het
Psd T C 19: 46,319,545 T675A probably benign Het
Rnf215 G T 11: 4,140,305 R341L probably damaging Het
Ryr3 A G 2: 112,902,576 probably null Het
Sh2d7 C A 9: 54,540,821 T42N probably benign Het
Sh3glb2 C T 2: 30,346,356 G279D probably benign Het
Slc25a46 A G 18: 31,605,815 probably benign Het
Snx17 T C 5: 31,197,046 S167P probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sptbn4 G A 7: 27,367,679 R1937C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Srsf11 T C 3: 158,016,431 probably benign Het
Taar7b A T 10: 24,000,683 M249L probably benign Het
Tle6 G A 10: 81,600,064 Q6* probably null Het
Ttc30a2 T C 2: 75,976,338 E610G probably benign Het
Twnk G T 19: 45,008,118 R330L probably damaging Het
Unc13a C A 8: 71,656,305 probably benign Het
Vmn2r107 A G 17: 20,356,744 T335A possibly damaging Het
Wdtc1 A T 4: 133,297,478 S469R possibly damaging Het
Zfp382 A T 7: 30,133,737 Y271F probably benign Het
Other mutations in Acmsd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01586:Acmsd APN 1 127759710 missense probably damaging 1.00
IGL02203:Acmsd APN 1 127738605 splice site probably benign
IGL02209:Acmsd APN 1 127759755 missense probably damaging 1.00
IGL02429:Acmsd APN 1 127759716 missense probably damaging 1.00
IGL02577:Acmsd APN 1 127739959 missense probably benign 0.05
IGL03215:Acmsd APN 1 127758013 nonsense probably null
H8562:Acmsd UTSW 1 127749058 missense probably benign
R0535:Acmsd UTSW 1 127765943 missense probably benign 0.10
R0551:Acmsd UTSW 1 127766333 missense probably benign 0.05
R0593:Acmsd UTSW 1 127738603 splice site probably benign
R1282:Acmsd UTSW 1 127738560 missense probably damaging 0.99
R1633:Acmsd UTSW 1 127753855 missense probably benign 0.33
R1800:Acmsd UTSW 1 127759756 nonsense probably null
R3018:Acmsd UTSW 1 127749116 missense probably benign 0.11
R4195:Acmsd UTSW 1 127749194 missense probably damaging 1.00
R4196:Acmsd UTSW 1 127749194 missense probably damaging 1.00
R4288:Acmsd UTSW 1 127738572 missense probably damaging 1.00
R4591:Acmsd UTSW 1 127749197 missense probably damaging 0.99
R5172:Acmsd UTSW 1 127753848 nonsense probably null
R5637:Acmsd UTSW 1 127766313 missense probably damaging 0.99
R6147:Acmsd UTSW 1 127729420 start gained probably benign
R7055:Acmsd UTSW 1 127753833 missense probably benign 0.10
R7261:Acmsd UTSW 1 127759824 missense probably damaging 1.00
R7398:Acmsd UTSW 1 127729435 start gained probably benign
X0067:Acmsd UTSW 1 127759731 missense probably benign 0.42
Posted On2015-04-16