Incidental Mutation 'IGL01987:Gcdh'
ID181975
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 #IGL01987
Quality Score
Status
Chromosome8
Chromosomal Location84886393-84893921 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 84893481 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003907] [ENSMUST00000109745] [ENSMUST00000142748]
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932411N23Rik C T X: 126,814,475 E336K possibly damaging Het
Abca17 A G 17: 24,346,228 F77L probably benign Het
Abca8a A G 11: 110,074,155 F439L possibly damaging Het
Abcb5 A T 12: 118,927,358 V468D probably damaging Het
Adgrb3 A T 1: 25,101,431 probably null Het
Ankrd28 T C 14: 31,778,974 D50G probably damaging Het
Cacna1b A T 2: 24,697,567 probably null Het
Capn9 A G 8: 124,576,226 S28G probably benign Het
Cdk5rap2 A G 4: 70,302,082 probably null Het
E2f5 T C 3: 14,587,303 probably benign Het
Fam135b A G 15: 71,462,115 Y1077H probably benign Het
Fap A G 2: 62,528,676 Y428H probably damaging Het
Fasn A G 11: 120,818,073 S595P probably damaging Het
Flnb T C 14: 7,922,748 probably null Het
Fzd3 A T 14: 65,239,898 V69E probably damaging Het
Gm996 T C 2: 25,577,958 E647G possibly damaging Het
Ido1 A G 8: 24,593,143 Y89H probably benign Het
Itga2 G A 13: 114,847,946 Q1010* probably null Het
Man1a2 T C 3: 100,644,557 Y280C probably damaging Het
Mgat4d T C 8: 83,368,102 I256T probably damaging Het
Mmrn1 A G 6: 60,944,573 K5E probably benign Het
Ncapd2 A G 6: 125,185,841 probably benign Het
Olfr520 A T 7: 99,735,271 I43F probably damaging Het
Olfr830 A T 9: 18,875,707 I127L probably benign Het
Pcnx3 T C 19: 5,677,479 D644G probably damaging Het
Pole T C 5: 110,337,232 V2280A probably benign Het
Ptprf T A 4: 118,277,370 M24L probably benign Het
Sbno1 T C 5: 124,404,219 N337S probably damaging Het
Serpinc1 T A 1: 160,993,407 F141L probably damaging Het
Shroom3 C A 5: 92,942,189 R933S probably damaging Het
Slc24a2 G A 4: 87,227,796 P7L probably benign Het
Slc25a32 G A 15: 39,097,607 T227I probably damaging Het
Slc7a1 A G 5: 148,337,192 F396L possibly damaging Het
Smok2a G A 17: 13,226,490 R318H probably benign Het
Sntg2 A G 12: 30,312,570 V59A probably damaging Het
Sspo A G 6: 48,477,624 probably null Het
Tnfrsf1a G A 6: 125,356,864 V27I probably damaging Het
Tnpo3 T C 6: 29,560,201 T648A probably benign Het
Tpbg A G 9: 85,845,199 Y407C probably damaging Het
Wbp2nl A T 15: 82,308,561 M149L probably benign Het
Yif1a T A 19: 5,091,597 M181K probably benign Het
Zkscan8 A G 13: 21,526,559 L127S 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
IGL01616:Gcdh APN 8 84893659 missense probably damaging 1.00
IGL01903:Gcdh APN 8 84888604 missense probably damaging 1.00
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
R8164:Gcdh UTSW 8 84892552 missense probably damaging 1.00
Posted On2014-05-07