Incidental Mutation 'IGL01903:Gcdh'
| ID |
179587 |
| 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)
|
| Stock # |
IGL01903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85613022-85620550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85615233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 389
(L389Q)
|
| 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: L398Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003907
Gene: ENSMUSG00000003809
AA Change: L398Q
| Domain | Start | End | E-Value | Type |
|---|
|
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: L389Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105367
Gene: ENSMUSG00000003809
AA Change: L389Q
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
58 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142748
|
| SMART Domains |
Protein: ENSMUSP00000116584
Gene: ENSMUSG00000003809
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,949,050 (GRCm39) |
|
probably benign |
Het |
| Adad1 |
T |
A |
3: 37,139,231 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,567,633 (GRCm39) |
D70E |
probably benign |
Het |
| Atat1 |
T |
A |
17: 36,208,692 (GRCm39) |
I380L |
probably benign |
Het |
| Ccnj |
A |
G |
19: 40,834,454 (GRCm39) |
E351G |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,634,020 (GRCm39) |
Y132N |
probably damaging |
Het |
| Cttnbp2 |
A |
C |
6: 18,501,964 (GRCm39) |
V16G |
probably damaging |
Het |
| Ggta1 |
A |
T |
2: 35,292,569 (GRCm39) |
F258Y |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm3696 |
T |
A |
14: 18,434,983 (GRCm39) |
|
probably benign |
Het |
| Gramd2b |
A |
T |
18: 56,607,101 (GRCm39) |
S72C |
probably damaging |
Het |
| Hal |
G |
A |
10: 93,336,469 (GRCm39) |
|
probably benign |
Het |
| Haus4 |
A |
T |
14: 54,779,886 (GRCm39) |
S288T |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,294,154 (GRCm39) |
K499* |
probably null |
Het |
| Hyou1 |
C |
T |
9: 44,292,438 (GRCm39) |
|
probably benign |
Het |
| Kng2 |
C |
T |
16: 22,806,540 (GRCm39) |
R553Q |
possibly damaging |
Het |
| Leng9 |
G |
A |
7: 4,151,746 (GRCm39) |
A310V |
probably damaging |
Het |
| Magi3 |
G |
T |
3: 103,958,526 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Mark1 |
A |
G |
1: 184,661,577 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
T |
A |
1: 9,741,801 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,154,423 (GRCm39) |
S598P |
probably benign |
Het |
| Or14j5 |
T |
C |
17: 37,920,758 (GRCm39) |
I295V |
possibly damaging |
Het |
| Or4k47 |
T |
C |
2: 111,452,003 (GRCm39) |
K139E |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,400,047 (GRCm39) |
V125I |
probably benign |
Het |
| Or5aq1 |
A |
C |
2: 86,965,723 (GRCm39) |
|
probably null |
Het |
| Otud6b |
C |
T |
4: 14,818,458 (GRCm39) |
E148K |
probably benign |
Het |
| Pgghg |
A |
G |
7: 140,526,741 (GRCm39) |
Q686R |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,268,361 (GRCm39) |
C3339F |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,716,370 (GRCm39) |
D697G |
possibly damaging |
Het |
| Serping1 |
A |
T |
2: 84,600,116 (GRCm39) |
|
probably null |
Het |
| Sfxn4 |
T |
C |
19: 60,847,118 (GRCm39) |
Y55C |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,236,864 (GRCm39) |
R274G |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,135,968 (GRCm39) |
T88A |
probably benign |
Het |
| Spz1 |
G |
T |
13: 92,711,407 (GRCm39) |
N356K |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,923,412 (GRCm39) |
F288L |
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,842,542 (GRCm39) |
E829G |
probably benign |
Het |
| Ube2z |
T |
C |
11: 95,955,826 (GRCm39) |
D92G |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r7 |
A |
G |
3: 64,626,864 (GRCm39) |
Y142H |
probably benign |
Het |
| Zfp397 |
T |
A |
18: 24,093,086 (GRCm39) |
N190K |
probably benign |
Het |
|
| Other mutations in Gcdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2014-05-07 |
Incidental Mutation