Incidental Mutation 'R0575:Gmds'
ID 201509
Institutional Source Beutler Lab
Gene Symbol Gmds
Ensembl Gene ENSMUSG00000038372
Gene Name GDP-mannose 4, 6-dehydratase
Synonyms
MMRRC Submission 038765-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0575 (G1)
Quality Score 66
Status Validated
Chromosome 13
Chromosomal Location 32003562-32522723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 32124566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 264 (Q264P)
Ref Sequence ENSEMBL: ENSMUSP00000036696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041859]
AlphaFold Q8K0C9
Predicted Effect probably damaging
Transcript: ENSMUST00000041859
AA Change: Q264P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372
AA Change: Q264P

DomainStartEndE-ValueType
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 0.9691 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (30/30)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,828,709 (GRCm39) S264N possibly damaging Het
Acsm1 G A 7: 119,258,424 (GRCm39) probably null Het
Adsl C T 15: 80,847,886 (GRCm39) A93V probably damaging Het
Agbl5 A T 5: 31,051,798 (GRCm39) S539C probably damaging Het
Aggf1 T A 13: 95,504,905 (GRCm39) T285S probably benign Het
Anapc11 A G 11: 120,490,192 (GRCm39) D36G probably benign Het
Ankrd44 G A 1: 54,801,469 (GRCm39) A286V probably damaging Het
Atf7ip2 G T 16: 10,055,075 (GRCm39) G281C probably damaging Het
Birc6 A G 17: 74,996,232 (GRCm39) K4475E probably damaging Het
Ccbe1 T A 18: 66,227,066 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,552,288 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,951,934 (GRCm39) probably benign Het
Dtwd2 C A 18: 49,831,539 (GRCm39) C156F probably damaging Het
Efcab6 T G 15: 83,851,901 (GRCm39) I326L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
F5 C A 1: 164,003,813 (GRCm39) Q203K probably damaging Het
Frs3 A G 17: 48,014,648 (GRCm39) H447R possibly damaging Het
Golgb1 T A 16: 36,739,171 (GRCm39) D2503E probably benign Het
Lgi4 G A 7: 30,759,518 (GRCm39) G25R probably benign Het
Or2y1b G A 11: 49,208,880 (GRCm39) C169Y probably damaging Het
Or5b107 T A 19: 13,142,751 (GRCm39) Y124* probably null Het
Pcdh20 A G 14: 88,705,048 (GRCm39) S751P probably damaging Het
Pcnx4 A G 12: 72,614,010 (GRCm39) T652A probably benign Het
Pom121l2 T G 13: 22,168,338 (GRCm39) F870V probably damaging Het
Prob1 T C 18: 35,787,774 (GRCm39) D160G possibly damaging Het
Spa17 T C 9: 37,514,689 (GRCm39) K133E probably damaging Het
Strbp T A 2: 37,530,885 (GRCm39) D123V possibly damaging Het
Tnxb A G 17: 34,936,180 (GRCm39) T3586A possibly damaging Het
Zfp518a T A 19: 40,900,759 (GRCm39) H229Q probably damaging Het
Other mutations in Gmds
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GACTCATAAGGGCCTCTTGCATCAC -3'
(R):5'- CCAGGTGTTCACACCAAGATGTTTCTC -3'

Sequencing Primer
(F):5'- TTATAAGAGGCTGAGAGAAGGTGATG -3'
(R):5'- ACCAAGATGTTTCTCGGGTTTTTC -3'
Posted On 2014-06-16