Incidental Mutation 'R5060:Gmds'
ID |
386576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gmds
|
Ensembl Gene |
ENSMUSG00000038372 |
Gene Name |
GDP-mannose 4, 6-dehydratase |
Synonyms |
|
MMRRC Submission |
042650-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5060 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
32003562-32522723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32124482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 292
(I292T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036696
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041859]
|
AlphaFold |
Q8K0C9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041859
AA Change: I292T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000036696 Gene: ENSMUSG00000038372 AA Change: I292T
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 |
|
Meta Mutation Damage Score |
0.1772 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
Validation Efficiency |
98% (52/53) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,474,107 (GRCm39) |
L17Q |
probably damaging |
Het |
Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
Abcc9 |
A |
G |
6: 142,571,836 (GRCm39) |
|
probably benign |
Het |
Actg1 |
A |
G |
11: 120,237,839 (GRCm39) |
S234P |
probably benign |
Het |
Acvr2a |
A |
G |
2: 48,780,311 (GRCm39) |
D177G |
probably damaging |
Het |
Adamts12 |
T |
C |
15: 11,300,054 (GRCm39) |
C914R |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,298,621 (GRCm39) |
I103T |
possibly damaging |
Het |
Als2cl |
C |
T |
9: 110,713,205 (GRCm39) |
L32F |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,739,570 (GRCm39) |
|
probably benign |
Het |
Ankrd52 |
T |
A |
10: 128,225,710 (GRCm39) |
S959R |
possibly damaging |
Het |
Bnc2 |
C |
A |
4: 84,449,872 (GRCm39) |
A122S |
probably benign |
Het |
Cert1 |
A |
T |
13: 96,739,663 (GRCm39) |
K226N |
probably benign |
Het |
Cfap54 |
C |
T |
10: 92,875,013 (GRCm39) |
V443M |
probably damaging |
Het |
Cilk1 |
C |
T |
9: 78,060,978 (GRCm39) |
T208I |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,617,267 (GRCm39) |
R794S |
probably damaging |
Het |
Cyp2c65 |
T |
C |
19: 39,049,514 (GRCm39) |
L14P |
unknown |
Het |
Ggt5 |
T |
C |
10: 75,440,608 (GRCm39) |
M243T |
probably benign |
Het |
Gpcpd1 |
A |
T |
2: 132,386,355 (GRCm39) |
V341E |
probably damaging |
Het |
Grm3 |
A |
G |
5: 9,620,167 (GRCm39) |
F359S |
probably damaging |
Het |
Hcn1 |
A |
T |
13: 118,010,441 (GRCm39) |
K340* |
probably null |
Het |
Heatr9 |
T |
C |
11: 83,403,258 (GRCm39) |
E427G |
probably benign |
Het |
Kif26b |
G |
A |
1: 178,358,195 (GRCm39) |
G102D |
unknown |
Het |
Mark3 |
T |
C |
12: 111,584,760 (GRCm39) |
F119L |
probably damaging |
Het |
Melk |
T |
C |
4: 44,350,959 (GRCm39) |
V500A |
probably benign |
Het |
Mrpl41 |
A |
G |
2: 24,864,295 (GRCm39) |
F126L |
probably damaging |
Het |
Or10c1 |
C |
A |
17: 37,522,307 (GRCm39) |
A146S |
probably benign |
Het |
Or6c3b |
C |
T |
10: 129,527,699 (GRCm39) |
M70I |
probably benign |
Het |
Pax7 |
A |
T |
4: 139,506,928 (GRCm39) |
S372T |
probably benign |
Het |
Pax7 |
A |
T |
4: 139,556,906 (GRCm39) |
I118N |
probably damaging |
Het |
Plcl1 |
G |
T |
1: 55,735,671 (GRCm39) |
M337I |
possibly damaging |
Het |
Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
Rabgef1 |
A |
G |
5: 130,240,844 (GRCm39) |
Y321C |
probably damaging |
Het |
Rhobtb3 |
A |
C |
13: 76,061,389 (GRCm39) |
L252R |
probably benign |
Het |
Rlf |
A |
G |
4: 121,004,063 (GRCm39) |
V1639A |
probably benign |
Het |
Tff1 |
A |
G |
17: 31,381,682 (GRCm39) |
V65A |
probably damaging |
Het |
Trpm4 |
G |
T |
7: 44,971,258 (GRCm39) |
D222E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,643,741 (GRCm39) |
D13162E |
probably damaging |
Het |
Unc5d |
A |
T |
8: 29,209,723 (GRCm39) |
S466T |
probably benign |
Het |
Vmn1r73 |
A |
G |
7: 11,490,683 (GRCm39) |
Y167C |
probably damaging |
Het |
Vwde |
C |
T |
6: 13,208,323 (GRCm39) |
|
probably null |
Het |
Xpr1 |
T |
C |
1: 155,204,430 (GRCm39) |
|
probably null |
Het |
Zbtb40 |
A |
G |
4: 136,728,604 (GRCm39) |
V413A |
possibly 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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTGAGAAGACTGGGTTTAGAAAGTG -3'
(R):5'- TGTTCACACCAAGATGTTTCTCG -3'
Sequencing Primer
(F):5'- TGATAAAGATTTGACACACTAACTGG -3'
(R):5'- CCATCTTGAGTAGTTAGAATACTGC -3'
|
Posted On |
2016-06-06 |