Incidental Mutation 'IGL02570:Gmds'
| ID |
298993 |
| 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 # |
IGL02570
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
32003562-32522723 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 32418390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041859]
[ENSMUST00000179717]
|
| AlphaFold |
Q8K0C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041859
|
| SMART Domains |
Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
T |
C |
17: 13,159,181 (GRCm39) |
T3A |
probably benign |
Het |
| Anapc1 |
A |
C |
2: 128,487,120 (GRCm39) |
F1087V |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,796,885 (GRCm39) |
T484A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,187,862 (GRCm39) |
|
probably benign |
Het |
| Fscb |
A |
G |
12: 64,518,952 (GRCm39) |
I838T |
unknown |
Het |
| Gdap1 |
A |
G |
1: 17,215,709 (GRCm39) |
Q5R |
probably benign |
Het |
| Gmfb |
A |
T |
14: 47,054,904 (GRCm39) |
D13E |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,389,605 (GRCm39) |
V250D |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,899,996 (GRCm39) |
D295G |
probably damaging |
Het |
| Igkv1-135 |
A |
T |
6: 67,586,732 (GRCm39) |
M2L |
probably benign |
Het |
| Impdh1 |
T |
C |
6: 29,203,197 (GRCm39) |
Y375C |
probably damaging |
Het |
| Lrpprc |
A |
G |
17: 85,057,981 (GRCm39) |
Y750H |
probably damaging |
Het |
| Mab21l2 |
A |
T |
3: 86,454,531 (GRCm39) |
S156R |
possibly damaging |
Het |
| Map4k4 |
T |
C |
1: 40,019,739 (GRCm39) |
I146T |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,711,074 (GRCm39) |
N80K |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,590,480 (GRCm39) |
F1756L |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,625,019 (GRCm39) |
E1287G |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,724,009 (GRCm39) |
V2647E |
possibly damaging |
Het |
| Rxfp4 |
A |
C |
3: 88,560,149 (GRCm39) |
S101A |
probably damaging |
Het |
| Spag4 |
A |
T |
2: 155,910,364 (GRCm39) |
H330L |
possibly damaging |
Het |
| Spef2 |
G |
A |
15: 9,717,584 (GRCm39) |
R254* |
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Usp16 |
A |
G |
16: 87,277,781 (GRCm39) |
Y677C |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,264,748 (GRCm39) |
W27R |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,646,167 (GRCm39) |
|
probably benign |
Het |
| Zfp935 |
A |
G |
13: 62,604,792 (GRCm39) |
Y29H |
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 |
|
IGL01463:Gmds
|
APN |
13 |
32,418,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01780:Gmds
|
APN |
13 |
32,409,145 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation