Incidental Mutation 'IGL01616:Gcdh'
ID92403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcdh
Ensembl Gene ENSMUSG00000003809
Gene Nameglutaryl-Coenzyme A dehydrogenase
SynonymsD17825
Accession Numbers

NCBI RefSeq: NM_008097.2, NM_001044744.1; MGI: 104541

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01616
Quality Score
Status
Chromosome8
Chromosomal Location84886393-84893921 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84893659 bp
ZygosityHeterozygous
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]
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 Strain: 2182942
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: 85,887,814 probably null Het
Afg3l1 T A 8: 123,502,007 W771R probably damaging Het
Braf A G 6: 39,651,652 S348P probably damaging Het
Cd200 T C 16: 45,397,056 T112A possibly damaging Het
Cep350 T C 1: 155,953,247 I304V probably benign Het
Fry A G 5: 150,399,599 T1072A probably damaging Het
Fry A T 5: 150,438,811 probably null Het
Fuk G T 8: 110,890,476 H388N possibly damaging Het
Ivns1abp C A 1: 151,361,543 T486K possibly damaging Het
Mat1a G A 14: 41,109,479 V55M probably damaging Het
Olfr656 T C 7: 104,617,721 F22S probably damaging Het
Pcnx3 C T 19: 5,667,259 probably benign Het
Psrc1 C A 3: 108,386,692 S275Y possibly damaging Het
Ptpn21 A G 12: 98,680,013 L1062P probably damaging Het
Slc22a13b-ps A C 9: 119,220,928 probably benign Het
Slc35b1 T A 11: 95,389,084 M178K probably benign Het
Slc6a11 A T 6: 114,134,868 Q132L possibly damaging Het
Slc9a8 C T 2: 167,424,166 T21I possibly damaging Het
Tox T C 4: 6,688,430 T526A probably damaging Het
Ubr3 C T 2: 70,020,484 P1749S probably benign Het
Wdfy3 C A 5: 101,913,260 A1363S probably damaging Het
Zdhhc23 T A 16: 43,973,480 H277L probably damaging Het
Other mutations in Gcdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Gcdh APN 8 84888517 unclassified probably benign
IGL01533:Gcdh APN 8 84889362 missense probably damaging 1.00
IGL01903:Gcdh APN 8 84888604 missense probably damaging 1.00
IGL01987:Gcdh APN 8 84893481 splice site probably benign
IGL02976:Gcdh APN 8 84888578 missense probably damaging 1.00
IGL03333:Gcdh APN 8 84891071 missense probably benign 0.00
P0014:Gcdh UTSW 8 84888525 critical splice donor site probably null
R0898:Gcdh UTSW 8 84893560 missense possibly damaging 0.66
R1184:Gcdh UTSW 8 84893442 splice site probably benign
R1983:Gcdh UTSW 8 84890910 missense possibly damaging 0.90
R3755:Gcdh UTSW 8 84893480 splice site probably benign
R4062:Gcdh UTSW 8 84892453 missense probably damaging 0.96
R5507:Gcdh UTSW 8 84892857 missense probably damaging 1.00
R7001:Gcdh UTSW 8 84890911 missense probably benign 0.01
R7857:Gcdh UTSW 8 84892464 missense probably damaging 1.00
R7940:Gcdh UTSW 8 84892464 missense probably damaging 1.00
Posted On2013-12-09