Incidental Mutation 'R6795:Gmds'
| ID |
532987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmds
|
| Ensembl Gene |
ENSMUSG00000038372 |
| Gene Name |
GDP-mannose 4, 6-dehydratase |
| Synonyms |
|
| MMRRC Submission |
044908-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6795 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
32003562-32522723 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 32418335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041859]
[ENSMUST00000041859]
[ENSMUST00000179717]
|
| AlphaFold |
Q8K0C9 |
| Predicted Effect |
probably null
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 |
probably null
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 |
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 |
|
| Meta Mutation Damage Score |
0.9592 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
100% (36/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
C |
A |
4: 73,869,065 (GRCm39) |
|
probably benign |
Het |
| A2m |
T |
A |
6: 121,625,281 (GRCm39) |
|
probably null |
Het |
| Aadacl2fm3 |
A |
T |
3: 59,776,357 (GRCm39) |
Y176F |
probably damaging |
Het |
| Agps |
A |
G |
2: 75,724,402 (GRCm39) |
D472G |
probably damaging |
Het |
| Amfr |
A |
G |
8: 94,726,961 (GRCm39) |
V158A |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,833,873 (GRCm39) |
Y203H |
possibly damaging |
Het |
| Calr4 |
A |
G |
4: 109,101,985 (GRCm39) |
N147D |
probably damaging |
Het |
| Cd8b1 |
T |
A |
6: 71,303,324 (GRCm39) |
L133Q |
probably damaging |
Het |
| Cenpn |
T |
A |
8: 117,652,887 (GRCm39) |
S19R |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,694,449 (GRCm39) |
N494S |
probably damaging |
Het |
| Ces3a |
G |
A |
8: 105,777,228 (GRCm39) |
G184R |
possibly damaging |
Het |
| Dlgap1 |
C |
A |
17: 71,125,069 (GRCm39) |
A614E |
possibly damaging |
Het |
| Dpy19l1 |
C |
A |
9: 24,414,158 (GRCm39) |
R90L |
possibly damaging |
Het |
| Ephb2 |
A |
C |
4: 136,400,646 (GRCm39) |
L544R |
possibly damaging |
Het |
| Fanca |
T |
A |
8: 124,045,232 (GRCm39) |
T21S |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,811,303 (GRCm39) |
M2541L |
probably benign |
Het |
| Galnt2 |
T |
C |
8: 125,070,175 (GRCm39) |
F530S |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,262,676 (GRCm39) |
C871Y |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,841,270 (GRCm39) |
V620A |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,994,230 (GRCm39) |
T908A |
probably damaging |
Het |
| Or5d18 |
C |
T |
2: 87,864,668 (GRCm39) |
V272I |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pcf11 |
A |
C |
7: 92,306,786 (GRCm39) |
N1127K |
probably benign |
Het |
| Plec |
T |
C |
15: 76,064,338 (GRCm39) |
K1979E |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,811,980 (GRCm39) |
|
probably benign |
Het |
| Sema5b |
T |
A |
16: 35,478,941 (GRCm39) |
C588* |
probably null |
Het |
| Skint5 |
C |
T |
4: 113,524,420 (GRCm39) |
E854K |
unknown |
Het |
| Slc25a42 |
A |
G |
8: 70,641,040 (GRCm39) |
Y187H |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,953,577 (GRCm39) |
D182E |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,910,740 (GRCm39) |
I1047V |
probably damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,815,102 (GRCm39) |
D593G |
probably damaging |
Het |
| Thnsl1 |
C |
T |
2: 21,218,303 (GRCm39) |
Q165* |
probably null |
Het |
| Ttc6 |
T |
C |
12: 57,751,199 (GRCm39) |
F1364L |
probably damaging |
Het |
| Ttf2 |
G |
A |
3: 100,866,578 (GRCm39) |
A518V |
probably damaging |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,422 (GRCm39) |
Y28C |
possibly damaging |
Het |
| Zzef1 |
A |
G |
11: 72,741,485 (GRCm39) |
E709G |
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 |
|
|
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 |
|
|
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'- GAAGAGCTGAAGCCCATGTG -3'
(R):5'- TTCAGTGTCTGTTGCCACTAGC -3'
Sequencing Primer
(F):5'- TGAAGCCCATGTGCTCAC -3'
(R):5'- AGCAGTTTTGTTTTTATTTTGGTTGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation