Incidental Mutation 'IGL02209:Acmsd'
ID284633
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 #IGL02209
Quality Score
Status
Chromosome1
Chromosomal Location127729413-127767978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127759755 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 258 (Y258C)
Ref Sequence ENSEMBL: ENSMUSP00000048482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038006]
Predicted Effect probably damaging
Transcript: ENSMUST00000038006
AA Change: Y258C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048482
Gene: ENSMUSG00000026348
AA Change: Y258C

DomainStartEndE-ValueType
Pfam:Amidohydro_2 3 330 7.8e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186537
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 35,964,009 R82Q probably damaging Het
Anapc5 A G 5: 122,800,613 I366T possibly damaging Het
Crkl C T 16: 17,469,234 T218I probably benign Het
Egf A T 3: 129,707,307 I213K possibly damaging Het
Fry A G 5: 150,437,026 T33A probably benign Het
Garnl3 T C 2: 33,085,930 D93G probably damaging Het
Hook3 C T 8: 26,070,265 D311N probably damaging Het
Iglv3 T C 16: 19,241,670 T4A probably benign Het
Kctd17 A G 15: 78,435,592 N70S probably damaging Het
Kmt2d T C 15: 98,854,567 probably benign Het
Lrif1 A C 3: 106,731,729 L18F probably damaging Het
Mfsd1 A G 3: 67,598,132 probably benign Het
Msh4 A G 3: 153,888,862 Y101H probably damaging Het
Mycbpap G A 11: 94,509,882 probably benign Het
Myt1 A G 2: 181,797,234 D183G probably benign Het
Nppc T C 1: 86,669,665 *127W probably null Het
Olfr119 G A 17: 37,700,992 M107I probably damaging Het
Olfr138 A G 17: 38,275,232 I154V probably benign Het
Olfr356 C T 2: 36,937,505 P129S probably damaging Het
Olfr641 T G 7: 104,040,456 L220R probably damaging Het
Olfr918 T C 9: 38,673,046 K146E possibly damaging Het
Pde5a A G 3: 122,825,015 probably benign Het
Pkd1l3 T C 8: 109,638,664 V1139A probably damaging Het
Pwwp2b G A 7: 139,255,105 R154Q probably damaging Het
Satb2 C T 1: 56,871,518 V264I probably damaging Het
Slc6a2 T A 8: 92,994,060 F435Y probably benign Het
Stmn2 T C 3: 8,560,261 probably benign Het
Synj1 A G 16: 90,987,419 I277T probably damaging Het
Trio C T 15: 27,744,053 A2598T probably damaging Het
Tshz2 G A 2: 169,884,764 V427M probably damaging Het
Utrn A G 10: 12,683,295 S1405P probably damaging Het
Vmn1r173 G A 7: 23,703,161 V274I probably benign Het
Vmn2r116 T C 17: 23,388,787 F443S probably damaging Het
Vps13d C A 4: 145,156,101 R974L probably damaging Het
Wapl T A 14: 34,677,261 S96T possibly damaging Het
Zfp516 A G 18: 82,994,497 D1125G probably benign Het
Zfp692 C T 11: 58,313,998 R395* probably null 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
IGL02429:Acmsd APN 1 127759716 missense probably damaging 1.00
IGL02577:Acmsd APN 1 127739959 missense probably benign 0.05
IGL02724:Acmsd APN 1 127749085 missense possibly damaging 0.84
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
X0067:Acmsd UTSW 1 127759731 missense probably benign 0.42
Posted On2015-04-16