Incidental Mutation 'IGL01616:Gcdh'
ID 92403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcdh
Ensembl Gene ENSMUSG00000003809
Gene Name glutaryl-Coenzyme A dehydrogenase
Synonyms D17825
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01616
Quality Score
Status
Chromosome 8
Chromosomal Location 85613022-85620550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85620288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 8 (G8D)
Ref Sequence ENSEMBL: ENSMUSP00000116584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003907] [ENSMUST00000109745] [ENSMUST00000142748]
AlphaFold Q60759
Predicted Effect unknown
Transcript: ENSMUST00000003907
AA Change: G8D
SMART Domains Protein: ENSMUSP00000003907
Gene: ENSMUSG00000003809
AA Change: G8D

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 61 172 1.5e-29 PFAM
Pfam:Acyl-CoA_dh_M 176 269 3.8e-22 PFAM
Pfam:Acyl-CoA_dh_1 287 429 2.9e-30 PFAM
Pfam:Acyl-CoA_dh_2 295 418 3.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109745
SMART Domains Protein: ENSMUSP00000105367
Gene: ENSMUSG00000003809

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 61 172 8.2e-28 PFAM
Pfam:Acyl-CoA_dh_M 176 230 2.2e-21 PFAM
low complexity region 269 280 N/A INTRINSIC
Pfam:Acyl-CoA_dh_1 287 429 2.6e-30 PFAM
Pfam:Acyl-CoA_dh_2 295 418 2.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139180
Predicted Effect probably damaging
Transcript: ENSMUST00000142748
AA Change: G8D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116584
Gene: ENSMUSG00000003809
AA Change: G8D

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
PDB:2R0M|A 45 66 5e-6 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a mild motor deficit associated with a diffuse spongiform myelinopathy and elevated levels of glutaric acid and 3-hydroxyglutaric acid. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted(1)
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T A 16: 85,684,702 (GRCm39) probably null Het
Afg3l1 T A 8: 124,228,746 (GRCm39) W771R probably damaging Het
Braf A G 6: 39,628,586 (GRCm39) S348P probably damaging Het
Cd200 T C 16: 45,217,419 (GRCm39) T112A possibly damaging Het
Cep350 T C 1: 155,828,993 (GRCm39) I304V probably benign Het
Fcsk G T 8: 111,617,108 (GRCm39) H388N possibly damaging Het
Fry A G 5: 150,323,064 (GRCm39) T1072A probably damaging Het
Fry A T 5: 150,362,276 (GRCm39) probably null Het
Ivns1abp C A 1: 151,237,294 (GRCm39) T486K possibly damaging Het
Mat1a G A 14: 40,831,436 (GRCm39) V55M probably damaging Het
Or52p1 T C 7: 104,266,928 (GRCm39) F22S probably damaging Het
Pcnx3 C T 19: 5,717,287 (GRCm39) probably benign Het
Psrc1 C A 3: 108,294,008 (GRCm39) S275Y possibly damaging Het
Ptpn21 A G 12: 98,646,272 (GRCm39) L1062P probably damaging Het
Slc22a13b A C 9: 119,049,994 (GRCm39) probably benign Het
Slc35b1 T A 11: 95,279,910 (GRCm39) M178K probably benign Het
Slc6a11 A T 6: 114,111,829 (GRCm39) Q132L possibly damaging Het
Slc9a8 C T 2: 167,266,086 (GRCm39) T21I possibly damaging Het
Tox T C 4: 6,688,430 (GRCm39) T526A probably damaging Het
Ubr3 C T 2: 69,850,828 (GRCm39) P1749S probably benign Het
Wdfy3 C A 5: 102,061,126 (GRCm39) A1363S probably damaging Het
Zdhhc23 T A 16: 43,793,843 (GRCm39) H277L probably damaging Het
Other mutations in Gcdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Gcdh APN 8 85,615,146 (GRCm39) unclassified probably benign
IGL01533:Gcdh APN 8 85,615,991 (GRCm39) missense probably damaging 1.00
IGL01903:Gcdh APN 8 85,615,233 (GRCm39) missense probably damaging 1.00
IGL01987:Gcdh APN 8 85,620,110 (GRCm39) splice site probably benign
IGL02976:Gcdh APN 8 85,615,207 (GRCm39) missense probably damaging 1.00
IGL03333:Gcdh APN 8 85,617,700 (GRCm39) missense probably benign 0.00
P0014:Gcdh UTSW 8 85,615,154 (GRCm39) critical splice donor site probably null
R0898:Gcdh UTSW 8 85,620,189 (GRCm39) missense possibly damaging 0.66
R1184:Gcdh UTSW 8 85,620,071 (GRCm39) splice site probably benign
R1983:Gcdh UTSW 8 85,617,539 (GRCm39) missense possibly damaging 0.90
R3755:Gcdh UTSW 8 85,620,109 (GRCm39) splice site probably benign
R4062:Gcdh UTSW 8 85,619,082 (GRCm39) missense probably damaging 0.96
R5507:Gcdh UTSW 8 85,619,486 (GRCm39) missense probably damaging 1.00
R7001:Gcdh UTSW 8 85,617,540 (GRCm39) missense probably benign 0.01
R7857:Gcdh UTSW 8 85,619,093 (GRCm39) missense probably damaging 1.00
R8164:Gcdh UTSW 8 85,619,181 (GRCm39) missense probably damaging 1.00
R9287:Gcdh UTSW 8 85,616,313 (GRCm39) missense probably damaging 0.99
Posted On 2013-12-09