Incidental Mutation 'IGL01987:Gcdh'
ID 181975
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 # IGL01987
Quality Score
Status
Chromosome 8
Chromosomal Location 85613022-85620550 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 85620110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003907] [ENSMUST00000109745] [ENSMUST00000142748]
AlphaFold Q60759
Predicted Effect probably benign
Transcript: ENSMUST00000003907
SMART Domains Protein: ENSMUSP00000003907
Gene: ENSMUSG00000003809

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 benign
Transcript: ENSMUST00000142748
SMART Domains Protein: ENSMUSP00000116584
Gene: ENSMUSG00000003809

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
Dmtf1l C T X: 125,722,098 (GRCm39) E336K possibly damaging Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Man1a2 T C 3: 100,551,873 (GRCm39) Y280C probably damaging Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pcnx3 T C 19: 5,727,507 (GRCm39) D644G probably damaging Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Ptprf T A 4: 118,134,567 (GRCm39) M24L probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Serpinc1 T A 1: 160,820,977 (GRCm39) F141L probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Slc7a1 A G 5: 148,274,002 (GRCm39) F396L possibly damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sntg2 A G 12: 30,362,569 (GRCm39) V59A probably damaging Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnfrsf1a G A 6: 125,333,827 (GRCm39) V27I probably damaging Het
Tnpo3 T C 6: 29,560,200 (GRCm39) T648A probably benign Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Zkscan8 A G 13: 21,710,729 (GRCm39) L127S 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
IGL01616:Gcdh APN 8 85,620,288 (GRCm39) missense probably damaging 1.00
IGL01903:Gcdh APN 8 85,615,233 (GRCm39) missense probably damaging 1.00
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 2014-05-07