Incidental Mutation 'IGL00091:Gmds'
ID1039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmds
Ensembl Gene ENSMUSG00000038372
Gene NameGDP-mannose 4, 6-dehydratase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00091
Quality Score
Status
Chromosome13
Chromosomal Location31819579-32338740 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 32234390 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 37 (S37L)
Ref Sequence ENSEMBL: ENSMUSP00000036696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041859] [ENSMUST00000179717]
Predicted Effect probably damaging
Transcript: ENSMUST00000041859
AA Change: S37L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372
AA Change: S37L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178294
Predicted Effect unknown
Transcript: ENSMUST00000179717
AA Change: S37L
SMART Domains Protein: ENSMUSP00000136223
Gene: ENSMUSG00000038372
AA Change: S37L

DomainStartEndE-ValueType
PDB:1T2A|D 20 47 2e-10 PDB
SCOP:d1db3a_ 24 47 3e-7 SMART
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,883,428 Y400F probably benign Het
Adamts8 C A 9: 30,953,500 T429K probably damaging Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Ano7 A T 1: 93,402,166 H775L probably benign Het
Apoo-ps A T 13: 107,414,634 noncoding transcript Het
Arid2 T C 15: 96,372,302 V1432A probably benign Het
Atoh1 T C 6: 64,729,584 S88P possibly damaging Het
C130050O18Rik A G 5: 139,414,846 E218G probably damaging Het
Cacna2d1 T A 5: 16,212,944 F155L probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cyp1a2 G T 9: 57,682,069 S154* probably null Het
Cyp3a25 A T 5: 146,001,463 Y68* probably null Het
Dmbt1 C A 7: 131,079,540 probably benign Het
Dnajc22 T A 15: 99,101,178 F81L possibly damaging Het
Eml5 G A 12: 98,873,209 probably benign Het
Fpgs A T 2: 32,686,547 probably benign Het
Gab2 T C 7: 97,302,443 S537P possibly damaging Het
Ipo13 T C 4: 117,903,405 E626G probably benign Het
Kcng1 T C 2: 168,268,764 H160R probably benign Het
Lama3 A G 18: 12,580,292 T1608A probably benign Het
Lama4 A C 10: 39,072,805 S855R probably damaging Het
Ltbp1 C T 17: 75,225,338 H454Y probably damaging Het
Map3k14 C A 11: 103,227,579 G594C probably damaging Het
Mcph1 A G 8: 18,632,620 N591S possibly damaging Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Mptx2 T G 1: 173,274,888 N78T probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Nup50 T A 15: 84,935,404 F293Y probably benign Het
Ogn A G 13: 49,621,038 Y219C probably damaging Het
Pdia3 T C 2: 121,414,178 L47P probably damaging Het
Piwil4 A T 9: 14,703,097 D786E probably damaging Het
Pspc1 A G 14: 56,771,711 L222P probably damaging Het
Ptchd3 T A 11: 121,831,146 Y282N probably damaging Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpini2 T C 3: 75,249,242 Y327C probably damaging Het
Spire2 A G 8: 123,354,059 D14G probably damaging Het
Stab2 A T 10: 86,869,206 probably null Het
Timeless T C 10: 128,241,708 L219P probably damaging Het
Tmem63a C T 1: 180,963,088 T437M probably damaging Het
Tslp A G 18: 32,815,395 probably benign Het
Ttbk2 C A 2: 120,748,833 G534* probably null Het
Uggt1 T C 1: 36,179,552 probably benign Het
Vmn2r118 T C 17: 55,592,708 E732G probably damaging Het
Zfhx2 G A 14: 55,066,565 P1321S possibly damaging Het
Zfp58 A G 13: 67,490,995 V459A probably benign Het
Zfp831 T C 2: 174,645,658 S709P possibly damaging Het
Other mutations in Gmds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Gmds APN 13 32127030 missense possibly damaging 0.85
IGL01463:Gmds APN 13 32234358 missense probably damaging 1.00
IGL01780:Gmds APN 13 32225162 nonsense probably null
IGL02570:Gmds APN 13 32234407 splice site probably benign
IGL02944:Gmds APN 13 32338452 missense probably benign
IGL03159:Gmds APN 13 31819951 missense probably damaging 1.00
Insipidus UTSW 13 31917696 missense probably benign 0.21
mini UTSW 13 31820189 missense possibly damaging 0.77
R0114:Gmds UTSW 13 32227281 missense probably benign 0.09
R0575:Gmds UTSW 13 31940583 missense probably damaging 1.00
R1932:Gmds UTSW 13 32127997 missense possibly damaging 0.87
R2516:Gmds UTSW 13 32100473 missense probably damaging 1.00
R3877:Gmds UTSW 13 32227265 missense probably damaging 1.00
R4257:Gmds UTSW 13 31820189 missense possibly damaging 0.77
R4380:Gmds UTSW 13 31917696 missense probably benign 0.21
R4441:Gmds UTSW 13 31940478 splice site probably null
R5060:Gmds UTSW 13 31940499 missense probably benign 0.01
R5454:Gmds UTSW 13 32128041 missense probably damaging 1.00
R5493:Gmds UTSW 13 31940505 missense probably benign
R5571:Gmds UTSW 13 31917721 splice site probably null
R6795:Gmds UTSW 13 32234352 critical splice donor site probably null
Posted On2011-07-12