Incidental Mutation 'IGL02944:Gmds'
| ID |
364662 |
| 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 # |
IGL02944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
32003562-32522723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32522435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 11
(Y11F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041859]
[ENSMUST00000179717]
|
| AlphaFold |
Q8K0C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041859
AA Change: Y11F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372
AA Change: Y11F
| 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 |
unknown
Transcript: ENSMUST00000179717
AA Change: Y11F
|
| SMART Domains |
Protein: ENSMUSP00000136223
Gene: ENSMUSG00000038372
AA Change: Y11F
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1T2A|D
|
20 |
47 |
2e-10 |
PDB |
|
SCOP:d1db3a_
|
24 |
47 |
3e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221700
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,258,405 (GRCm39) |
Q343R |
probably benign |
Het |
| Antxr1 |
T |
A |
6: 87,165,141 (GRCm39) |
N432I |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 44,032,362 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
T |
A |
1: 5,163,578 (GRCm39) |
|
probably benign |
Het |
| Cav2 |
T |
C |
6: 17,281,456 (GRCm39) |
Y33H |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,164,667 (GRCm39) |
D585V |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,453,276 (GRCm39) |
D271G |
probably benign |
Het |
| Cylc1 |
T |
A |
X: 110,167,373 (GRCm39) |
D551E |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,022,828 (GRCm39) |
I1103N |
possibly damaging |
Het |
| Igkv13-54-1 |
C |
T |
6: 69,594,374 (GRCm39) |
|
noncoding transcript |
Het |
| Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Mageb11 |
A |
G |
X: 89,935,868 (GRCm39) |
K41E |
probably benign |
Het |
| Mbd1 |
G |
A |
18: 74,410,481 (GRCm39) |
G428E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,154,065 (GRCm39) |
|
probably null |
Het |
| Nav2 |
C |
T |
7: 49,070,004 (GRCm39) |
R287W |
probably damaging |
Het |
| Nfs1 |
C |
T |
2: 155,969,688 (GRCm39) |
D320N |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,258,076 (GRCm39) |
T565S |
probably benign |
Het |
| Nod1 |
A |
T |
6: 54,901,932 (GRCm39) |
I951N |
possibly damaging |
Het |
| Or1n1b |
T |
G |
2: 36,780,800 (GRCm39) |
E20A |
possibly damaging |
Het |
| Or2ag1b |
A |
G |
7: 106,288,476 (GRCm39) |
L154P |
probably damaging |
Het |
| Or52e8b |
A |
G |
7: 104,674,130 (GRCm39) |
L19P |
probably damaging |
Het |
| Or8d2 |
A |
T |
9: 38,760,048 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,364,927 (GRCm39) |
Y689H |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,534,234 (GRCm39) |
I366V |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,578,303 (GRCm39) |
Y149C |
probably damaging |
Het |
| Prdm1 |
T |
C |
10: 44,317,807 (GRCm39) |
S354G |
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,804,736 (GRCm39) |
Q520L |
probably benign |
Het |
| Slc25a54 |
A |
T |
3: 108,987,931 (GRCm39) |
Y24F |
probably benign |
Het |
| Slfn3 |
T |
A |
11: 83,103,837 (GRCm39) |
V236E |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,482,865 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
G |
T |
7: 104,084,984 (GRCm39) |
N75K |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,591 (GRCm39) |
E12G |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,233,984 (GRCm39) |
T504S |
probably benign |
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 |
|
|
IGL02570:Gmds
|
APN |
13 |
32,418,390 (GRCm39) |
splice site |
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 |
2015-12-18 |
Incidental Mutation