Incidental Mutation 'IGL01463:Gmds'
ID |
88046 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gmds
|
Ensembl Gene |
ENSMUSG00000038372 |
Gene Name |
GDP-mannose 4, 6-dehydratase |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01463
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
32003562-32522723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32418341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 48
(Y48N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036696
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041859]
[ENSMUST00000179717]
|
AlphaFold |
Q8K0C9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041859
AA Change: Y48N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036696 Gene: ENSMUSG00000038372 AA Change: Y48N
Domain | Start | End | E-Value | Type |
Pfam:RmlD_sub_bind
|
24 |
229 |
4.3e-8 |
PFAM |
Pfam:Epimerase
|
26 |
274 |
2.2e-76 |
PFAM |
Pfam:GDP_Man_Dehyd
|
27 |
358 |
7.2e-167 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178294
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179717
|
SMART Domains |
Protein: ENSMUSP00000136223 Gene: ENSMUSG00000038372
Domain | Start | End | E-Value | Type |
PDB:1T2A|D
|
20 |
47 |
2e-10 |
PDB |
SCOP:d1db3a_
|
24 |
47 |
3e-7 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
T |
C |
5: 8,142,790 (GRCm39) |
D773G |
probably damaging |
Het |
Clvs1 |
A |
G |
4: 9,429,818 (GRCm39) |
T274A |
probably benign |
Het |
Cyp2c50 |
G |
T |
19: 40,079,422 (GRCm39) |
C172F |
probably damaging |
Het |
Fam83h |
G |
T |
15: 75,875,637 (GRCm39) |
R567S |
possibly damaging |
Het |
Fastkd1 |
A |
G |
2: 69,520,405 (GRCm39) |
|
probably null |
Het |
Mov10 |
C |
T |
3: 104,707,640 (GRCm39) |
R578H |
probably damaging |
Het |
Pcna |
A |
T |
2: 132,093,349 (GRCm39) |
Y133N |
probably damaging |
Het |
Rhag |
T |
C |
17: 41,139,646 (GRCm39) |
I126T |
probably damaging |
Het |
Sdr16c6 |
C |
T |
4: 4,063,238 (GRCm39) |
G179D |
probably damaging |
Het |
Sv2b |
C |
T |
7: 74,786,203 (GRCm39) |
G406S |
probably damaging |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,525,150 (GRCm39) |
N269K |
probably damaging |
Het |
|
Other mutations in Gmds |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Gmds
|
APN |
13 |
32,418,373 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01021:Gmds
|
APN |
13 |
32,311,013 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01780:Gmds
|
APN |
13 |
32,409,145 (GRCm39) |
nonsense |
probably null |
|
IGL02570:Gmds
|
APN |
13 |
32,418,390 (GRCm39) |
splice site |
probably benign |
|
IGL02944:Gmds
|
APN |
13 |
32,522,435 (GRCm39) |
missense |
probably benign |
|
IGL03159:Gmds
|
APN |
13 |
32,003,934 (GRCm39) |
missense |
probably damaging |
1.00 |
Insipidus
|
UTSW |
13 |
32,101,679 (GRCm39) |
missense |
probably benign |
0.21 |
mini
|
UTSW |
13 |
32,004,172 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0114:Gmds
|
UTSW |
13 |
32,411,264 (GRCm39) |
missense |
probably benign |
0.09 |
R0575:Gmds
|
UTSW |
13 |
32,124,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R1932:Gmds
|
UTSW |
13 |
32,311,980 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2516:Gmds
|
UTSW |
13 |
32,284,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R3877:Gmds
|
UTSW |
13 |
32,411,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4257:Gmds
|
UTSW |
13 |
32,004,172 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4380:Gmds
|
UTSW |
13 |
32,101,679 (GRCm39) |
missense |
probably benign |
0.21 |
R4441:Gmds
|
UTSW |
13 |
32,124,461 (GRCm39) |
splice site |
probably null |
|
R5060:Gmds
|
UTSW |
13 |
32,124,482 (GRCm39) |
missense |
probably benign |
0.01 |
R5454:Gmds
|
UTSW |
13 |
32,312,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R5493:Gmds
|
UTSW |
13 |
32,124,488 (GRCm39) |
missense |
probably benign |
|
R5571:Gmds
|
UTSW |
13 |
32,101,704 (GRCm39) |
splice site |
probably null |
|
R6795:Gmds
|
UTSW |
13 |
32,418,335 (GRCm39) |
critical splice donor site |
probably null |
|
R8463:Gmds
|
UTSW |
13 |
32,003,906 (GRCm39) |
missense |
probably benign |
0.01 |
R9138:Gmds
|
UTSW |
13 |
32,311,035 (GRCm39) |
nonsense |
probably null |
|
R9434:Gmds
|
UTSW |
13 |
32,284,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-18 |