Incidental Mutation 'IGL02489:Aldh6a1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh6a1
Ensembl Gene ENSMUSG00000021238
Gene Namealdehyde dehydrogenase family 6, subfamily A1
SynonymsMmsdh, 1110038I05Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.273) question?
Stock #IGL02489
Quality Score
Chromosomal Location84430717-84451004 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84433972 bp
Amino Acid Change Threonine to Alanine at position 430 (T430A)
Ref Sequence ENSEMBL: ENSMUSP00000082288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000085192] [ENSMUST00000153540]
Predicted Effect probably benign
Transcript: ENSMUST00000081828
SMART Domains Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265

low complexity region 4 29 N/A INTRINSIC
Pfam:DUF4515 83 276 1.8e-44 PFAM
coiled coil region 277 308 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000085192
AA Change: T430A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: T430A

low complexity region 2 10 N/A INTRINSIC
low complexity region 30 36 N/A INTRINSIC
Pfam:Aldedh 48 512 1.9e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153540
SMART Domains Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265

Pfam:DUF4515 1 105 3.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222641
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded enzyme is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This enzyme catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Mutations in the human gene result in Methylmalonate Semialdehyde Dehydrogenase Deficiency, characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,054,215 probably benign Het
Ankrd6 T C 4: 32,810,298 D426G probably damaging Het
Arhgef37 A G 18: 61,506,469 S280P possibly damaging Het
Bicd1 T C 6: 149,513,037 L416P probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpp T C 13: 49,650,118 probably null Het
Col5a2 T C 1: 45,392,811 probably null Het
Ctsa A G 2: 164,838,645 Y402C probably damaging Het
Dnah7a A G 1: 53,647,322 V223A possibly damaging Het
Dnajb3 G T 1: 88,205,310 N123K probably benign Het
Fhad1 G T 4: 141,957,620 N469K probably damaging Het
Fmo3 G T 1: 162,954,287 T499K possibly damaging Het
Gm10100 G A 10: 77,726,811 C109Y probably benign Het
Lrrc27 G T 7: 139,226,061 R214L probably benign Het
Mc5r T A 18: 68,339,526 C319S probably damaging Het
Nwd2 A C 5: 63,805,227 Y718S probably damaging Het
Olfr1097 T G 2: 86,890,995 Y60S probably damaging Het
Ppa1 T A 10: 61,665,444 D163E probably damaging Het
Ptprk G T 10: 28,383,472 G303W probably damaging Het
Rnf182 T C 13: 43,668,303 L110P probably damaging Het
Slc12a2 T C 18: 57,912,002 F659S probably damaging Het
Slc5a3 T A 16: 92,077,705 Y217N possibly damaging Het
Ttc41 G T 10: 86,760,914 E1008* probably null Het
Unc80 T C 1: 66,525,701 M849T probably benign Het
Vmn2r76 A T 7: 86,228,863 I442N probably benign Het
Other mutations in Aldh6a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01700:Aldh6a1 APN 12 84439538 missense probably damaging 1.00
IGL02213:Aldh6a1 APN 12 84432552 intron probably benign
IGL02806:Aldh6a1 APN 12 84439640 missense probably damaging 1.00
IGL02930:Aldh6a1 APN 12 84433982 missense possibly damaging 0.78
IGL03183:Aldh6a1 APN 12 84436440 splice site probably null
PIT4378001:Aldh6a1 UTSW 12 84441872 missense probably benign 0.01
R0015:Aldh6a1 UTSW 12 84441780 missense probably damaging 1.00
R0506:Aldh6a1 UTSW 12 84433526 missense probably damaging 1.00
R1458:Aldh6a1 UTSW 12 84439663 missense probably null 0.01
R1468:Aldh6a1 UTSW 12 84441770 missense possibly damaging 0.82
R1468:Aldh6a1 UTSW 12 84441770 missense possibly damaging 0.82
R1579:Aldh6a1 UTSW 12 84441848 missense possibly damaging 0.83
R2300:Aldh6a1 UTSW 12 84439529 missense probably damaging 1.00
R4351:Aldh6a1 UTSW 12 84443761 missense probably benign 0.00
R4447:Aldh6a1 UTSW 12 84439709 missense possibly damaging 0.73
R5205:Aldh6a1 UTSW 12 84439644 missense probably damaging 1.00
R5242:Aldh6a1 UTSW 12 84436383 missense probably damaging 1.00
R5443:Aldh6a1 UTSW 12 84437971 splice site probably null
R6849:Aldh6a1 UTSW 12 84443787 missense probably benign 0.00
R7001:Aldh6a1 UTSW 12 84441888 missense probably damaging 1.00
R7182:Aldh6a1 UTSW 12 84441831 missense probably benign 0.19
R7417:Aldh6a1 UTSW 12 84441782 missense probably benign 0.01
R7492:Aldh6a1 UTSW 12 84436866 missense probably damaging 1.00
R7749:Aldh6a1 UTSW 12 84442081 missense probably benign 0.00
R8511:Aldh6a1 UTSW 12 84433971 missense possibly damaging 0.93
Posted On2015-04-16