Incidental Mutation 'IGL02976:Gcdh'
ID 406381
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 # IGL02976
Quality Score
Status
Chromosome 8
Chromosomal Location 85613022-85620550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 85615207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 398 (Y398D)
Ref Sequence ENSEMBL: ENSMUSP00000105367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003907] [ENSMUST00000003922] [ENSMUST00000109745] [ENSMUST00000136026] [ENSMUST00000170296] [ENSMUST00000142748]
AlphaFold Q60759
Predicted Effect probably damaging
Transcript: ENSMUST00000003907
AA Change: Y407D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003907
Gene: ENSMUSG00000003809
AA Change: Y407D

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: ENSMUST00000003922
Predicted Effect probably damaging
Transcript: ENSMUST00000109745
AA Change: Y398D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105367
Gene: ENSMUSG00000003809
AA Change: Y398D

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 probably benign
Transcript: ENSMUST00000136026
SMART Domains Protein: ENSMUSP00000122159
Gene: ENSMUSG00000003824

DomainStartEndE-ValueType
coiled coil region 52 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144466
Predicted Effect probably benign
Transcript: ENSMUST00000170296
SMART Domains Protein: ENSMUSP00000131438
Gene: ENSMUSG00000003824

DomainStartEndE-ValueType
coiled coil region 58 89 N/A INTRINSIC
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A G 9: 101,816,845 (GRCm39) T84A possibly damaging Het
Adgrd1 T A 5: 129,208,661 (GRCm39) S288T probably benign Het
Ano7 T A 1: 93,330,395 (GRCm39) D806E possibly damaging Het
Arl6 A G 16: 59,444,259 (GRCm39) L79P probably damaging Het
Card6 A T 15: 5,129,310 (GRCm39) C695* probably null Het
Carmil1 T C 13: 24,276,534 (GRCm39) N610S possibly damaging Het
Cdc40 A G 10: 40,758,917 (GRCm39) V52A probably benign Het
Chd4 G A 6: 125,098,331 (GRCm39) R369H probably damaging Het
Clasp2 C T 9: 113,735,204 (GRCm39) P1031L probably damaging Het
Cldn34d C T X: 75,626,690 (GRCm39) A121T probably benign Het
Clmp A C 9: 40,692,520 (GRCm39) Y263S possibly damaging Het
Cntn5 A G 9: 10,419,104 (GRCm39) probably benign Het
Folh1 A T 7: 86,412,126 (GRCm39) M215K probably benign Het
Fut1 C T 7: 45,268,744 (GRCm39) R233C probably damaging Het
Gm26741 T G 10: 52,234,910 (GRCm39) S16R possibly damaging Het
Jph3 T A 8: 122,479,823 (GRCm39) L167Q probably damaging Het
Jup A G 11: 100,269,192 (GRCm39) V407A probably benign Het
Kif17 C T 4: 137,996,374 (GRCm39) A117V probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Magi2 C T 5: 20,739,473 (GRCm39) P349S probably damaging Het
Mlycd T C 8: 120,128,224 (GRCm39) M177T possibly damaging Het
Mocos A G 18: 24,799,626 (GRCm39) K287E possibly damaging Het
Morc2b T A 17: 33,356,497 (GRCm39) H425L possibly damaging Het
Mrpl9 T A 3: 94,355,084 (GRCm39) probably benign Het
Myo3a G A 2: 22,434,494 (GRCm39) W825* probably null Het
Npas2 T C 1: 39,326,565 (GRCm39) S17P probably damaging Het
Nrk A G X: 137,892,817 (GRCm39) I1174V probably benign Het
Or1e32 A G 11: 73,705,143 (GRCm39) I255T probably damaging Het
Or4d11 A T 19: 12,013,337 (GRCm39) Y256* probably null Het
Or4k2 G A 14: 50,423,889 (GRCm39) Q262* probably null Het
Parpbp A G 10: 87,947,456 (GRCm39) probably null Het
Pcdh10 T C 3: 45,334,448 (GRCm39) V254A possibly damaging Het
Plod1 C T 4: 147,997,778 (GRCm39) V644I probably damaging Het
Ptpn1 T C 2: 167,813,704 (GRCm39) V149A probably benign Het
Rassf4 T C 6: 116,615,209 (GRCm39) E320G probably damaging Het
Rgl2 T A 17: 34,152,936 (GRCm39) D448E possibly damaging Het
Rnf32 C T 5: 29,411,710 (GRCm39) probably null Het
Rpa1 T A 11: 75,203,628 (GRCm39) D358V probably damaging Het
Sdk2 T C 11: 113,742,668 (GRCm39) N747S probably damaging Het
Slc17a4 A C 13: 24,089,407 (GRCm39) M170R probably damaging Het
Slc5a4a G A 10: 76,006,527 (GRCm39) V310M possibly damaging Het
Spag9 G A 11: 93,974,779 (GRCm39) R463H probably benign Het
Spmip5 A T 19: 58,777,552 (GRCm39) V78E probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Syt10 A G 15: 89,698,682 (GRCm39) S221P probably benign Het
Tlk1 T A 2: 70,551,935 (GRCm39) K579* probably null Het
Tubgcp3 T C 8: 12,682,300 (GRCm39) Y673C probably damaging Het
Vmn1r223 T C 13: 23,434,165 (GRCm39) F253S probably damaging Het
Vmn2r83 T C 10: 79,304,832 (GRCm39) M14T probably benign Het
Zfp59 A G 7: 27,552,821 (GRCm39) D91G probably benign 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
IGL01987:Gcdh APN 8 85,620,110 (GRCm39) splice site probably benign
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 2016-08-02