Incidental Mutation 'R4380:Gmds'
| ID |
325305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmds
|
| Ensembl Gene |
ENSMUSG00000038372 |
| Gene Name |
GDP-mannose 4, 6-dehydratase |
| Synonyms |
|
| MMRRC Submission |
041678-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4380 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
32003562-32522723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32101679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 304
(N304I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041859]
|
| AlphaFold |
Q8K0C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041859
AA Change: N304I
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372
AA Change: N304I
| 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 |
0.3581 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (45/46) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
T |
C |
7: 44,326,580 (GRCm39) |
|
noncoding transcript |
Het |
| Casc3 |
C |
A |
11: 98,713,857 (GRCm39) |
P363Q |
possibly damaging |
Het |
| Cep162 |
C |
A |
9: 87,082,056 (GRCm39) |
R1283L |
probably damaging |
Het |
| Clk3 |
C |
A |
9: 57,659,075 (GRCm39) |
W562L |
probably damaging |
Het |
| Col17a1 |
G |
A |
19: 47,645,529 (GRCm39) |
T844M |
possibly damaging |
Het |
| Dntt |
G |
C |
19: 41,041,672 (GRCm39) |
G452A |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,513,120 (GRCm39) |
V20I |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
| Dync1li2 |
A |
T |
8: 105,154,798 (GRCm39) |
I270N |
probably damaging |
Het |
| Egflam |
A |
T |
15: 7,273,350 (GRCm39) |
I575N |
possibly damaging |
Het |
| Gldc |
G |
T |
19: 30,138,168 (GRCm39) |
|
probably benign |
Het |
| Gm17067 |
C |
A |
7: 42,357,462 (GRCm39) |
V347L |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,509 (GRCm39) |
T1686A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,013,683 (GRCm39) |
Q519L |
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,248,285 (GRCm39) |
|
probably benign |
Het |
| Mcfd2 |
C |
G |
17: 87,565,387 (GRCm39) |
G39R |
possibly damaging |
Het |
| Mecom |
T |
C |
3: 30,041,219 (GRCm39) |
H125R |
probably damaging |
Het |
| Nme7 |
A |
G |
1: 164,172,807 (GRCm39) |
T173A |
probably benign |
Het |
| Or4s2b |
A |
G |
2: 88,508,615 (GRCm39) |
T132A |
possibly damaging |
Het |
| Or5ac15 |
C |
T |
16: 58,940,027 (GRCm39) |
M135I |
probably benign |
Het |
| Pde1c |
T |
A |
6: 56,049,263 (GRCm39) |
R683S |
probably null |
Het |
| Pkn2 |
A |
T |
3: 142,536,217 (GRCm39) |
|
probably benign |
Het |
| Plppr4 |
T |
G |
3: 117,116,046 (GRCm39) |
T604P |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,424,856 (GRCm39) |
I196F |
probably benign |
Het |
| Slc34a2 |
C |
T |
5: 53,226,628 (GRCm39) |
P584S |
probably damaging |
Het |
| Slco5a1 |
A |
T |
1: 13,009,392 (GRCm39) |
M361K |
probably damaging |
Het |
| Snx4 |
T |
A |
16: 33,084,666 (GRCm39) |
I60N |
probably damaging |
Het |
| Sp6 |
T |
C |
11: 96,912,572 (GRCm39) |
L95P |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,678,175 (GRCm39) |
F646S |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,490,891 (GRCm39) |
M785T |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,235,935 (GRCm39) |
C365S |
probably damaging |
Het |
| Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
| Tnfsf8 |
A |
T |
4: 63,779,264 (GRCm39) |
C11* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,748,485 (GRCm39) |
V4188E |
probably damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,275,753 (GRCm39) |
H366L |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,101,442 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,683,022 (GRCm39) |
Y3487C |
unknown |
Het |
| Zfp28 |
C |
T |
7: 6,396,441 (GRCm39) |
T292I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGTATTCTCACTTGGGAAG -3'
(R):5'- GCTCTAATAACAAGGTTTAGGGCG -3'
Sequencing Primer
(F):5'- AAGTGCCCTGTGGAGTATGCC -3'
(R):5'- AAGGTTTAGGGCGGGCCTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation