Incidental Mutation 'IGL02570:Gmds'
ID298993
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 #IGL02570
Quality Score
Status
Chromosome13
Chromosomal Location31819579-32338740 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 32234407 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041859] [ENSMUST00000179717]
Predicted Effect probably benign
Transcript: ENSMUST00000041859
SMART Domains Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372

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 probably benign
Transcript: ENSMUST00000179717
SMART Domains Protein: ENSMUSP00000136223
Gene: ENSMUSG00000038372

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 T C 17: 12,940,294 T3A probably benign Het
Anapc1 A C 2: 128,645,200 F1087V probably damaging Het
Ccdc158 T C 5: 92,649,026 T484A possibly damaging Het
Cps1 T C 1: 67,148,703 probably benign Het
Fscb A G 12: 64,472,178 I838T unknown Het
Gdap1 A G 1: 17,145,485 Q5R probably benign Het
Gmfb A T 14: 46,817,447 D13E probably benign Het
Gpcpd1 A T 2: 132,547,685 V250D probably benign Het
Grin2b T C 6: 135,922,998 D295G probably damaging Het
Igkv1-135 A T 6: 67,609,748 M2L probably benign Het
Impdh1 T C 6: 29,203,198 Y375C probably damaging Het
Lrpprc A G 17: 84,750,553 Y750H probably damaging Het
Mab21l2 A T 3: 86,547,224 S156R possibly damaging Het
Map4k4 T C 1: 39,980,579 I146T probably benign Het
Pcdh18 A T 3: 49,756,625 N80K probably benign Het
Pkhd1 A G 1: 20,520,256 F1756L probably damaging Het
Plekhg3 A G 12: 76,578,245 E1287G probably benign Het
Rev3l T A 10: 39,848,013 V2647E possibly damaging Het
Rxfp4 A C 3: 88,652,842 S101A probably damaging Het
Spag4 A T 2: 156,068,444 H330L possibly damaging Het
Spef2 G A 15: 9,717,498 R254* probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Usp16 A G 16: 87,480,893 Y677C probably damaging Het
Vmn2r71 T A 7: 85,615,540 W27R possibly damaging Het
Vwa5a T C 9: 38,734,871 probably benign Het
Zfp935 A G 13: 62,456,978 Y29H probably damaging Het
Other mutations in Gmds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Gmds APN 13 32234390 missense probably damaging 1.00
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
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 On2015-04-16