Incidental Mutation 'R0114:Gmds'
ID20677
Institutional Source Beutler Lab
Gene Symbol Gmds
Ensembl Gene ENSMUSG00000038372
Gene NameGDP-mannose 4, 6-dehydratase
Synonyms
MMRRC Submission 038400-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0114 (G1)
Quality Score135
Status Validated (trace)
Chromosome13
Chromosomal Location31819579-32338740 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32227281 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 57 (S57T)
Ref Sequence ENSEMBL: ENSMUSP00000036696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041859] [ENSMUST00000179717]
Predicted Effect probably benign
Transcript: ENSMUST00000041859
AA Change: S57T

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372
AA Change: S57T

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 noncoding transcript
Transcript: ENSMUST00000178313
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
Meta Mutation Damage Score 0.254 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 93.2%
  • 20x: 79.2%
Validation Efficiency 100% (99/99)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,985,982 probably benign Het
4933427D14Rik T C 11: 72,195,799 Y262C probably damaging Het
Adamts1 C A 16: 85,799,614 V379L probably benign Het
Akt3 T C 1: 177,067,251 D260G probably damaging Het
Alms1 T C 6: 85,619,803 L537P probably benign Het
Anln A T 9: 22,353,346 I876N probably damaging Het
Ano9 A T 7: 141,103,239 probably benign Het
Arhgef10l T C 4: 140,583,883 E218G probably benign Het
Arnt2 G A 7: 84,347,530 R63C probably damaging Het
Atp9a G T 2: 168,710,856 Y63* probably null Het
Bmpr2 G T 1: 59,815,340 C116F probably damaging Het
Cand1 T C 10: 119,216,522 D233G probably benign Het
Cftr A T 6: 18,282,448 H1049L probably damaging Het
Ckap5 A T 2: 91,620,112 D1975V possibly damaging Het
Cyp26c1 T C 19: 37,686,633 V134A probably benign Het
Dnaic1 T C 4: 41,605,686 probably benign Het
Dpp10 T C 1: 123,486,092 I163V probably benign Het
Fam151a A T 4: 106,734,004 I15F possibly damaging Het
Fanca A T 8: 123,288,491 probably null Het
Fes A G 7: 80,378,035 V787A probably damaging Het
Fnip1 C T 11: 54,487,801 probably benign Het
Gabpb1 A G 2: 126,653,574 I86T probably damaging Het
Gm1840 A G 8: 5,640,359 noncoding transcript Het
Gnpat T G 8: 124,883,357 D426E probably benign Het
Gnptab C A 10: 88,433,400 P655Q possibly damaging Het
Herc1 T A 9: 66,461,846 F2941I probably damaging Het
Herc2 T C 7: 56,153,774 probably benign Het
Ino80 G A 2: 119,382,960 R1249C probably damaging Het
Itga11 T G 9: 62,735,293 V166G probably damaging Het
Itga11 T C 9: 62,760,302 V639A possibly damaging Het
Itpr2 A G 6: 146,312,879 F1490S probably damaging Het
Lama2 C A 10: 26,993,068 E802* probably null Het
Lgi3 C T 14: 70,531,029 probably benign Het
Limch1 C T 5: 67,036,084 probably benign Het
Lipc T C 9: 70,803,781 N363S probably damaging Het
Lrit2 A G 14: 37,068,045 probably null Het
Mfsd13a C T 19: 46,366,504 T40I probably benign Het
Mug2 A G 6: 122,040,648 Y448C probably damaging Het
Mybpc3 A G 2: 91,124,494 E450G probably damaging Het
Myo5b A T 18: 74,742,171 T1549S probably benign Het
Naa15 T C 3: 51,448,438 probably null Het
Nckap1l T A 15: 103,455,028 C54S probably benign Het
Nlrp9b A G 7: 20,024,056 D406G probably benign Het
Nprl3 T A 11: 32,239,784 probably benign Het
Nvl A G 1: 181,120,391 V429A probably benign Het
Olfr114 A T 17: 37,589,415 *313K probably null Het
Olfr54 G A 11: 51,027,604 V201I probably benign Het
Olfr548-ps1 A T 7: 102,542,731 Q265L probably benign Het
Olfr801 T A 10: 129,669,598 Y307F probably benign Het
Opa1 A T 16: 29,629,635 N912Y probably benign Het
Pcnx T C 12: 81,996,095 V2317A possibly damaging Het
Phf3 A T 1: 30,805,443 N1478K possibly damaging Het
Phykpl G A 11: 51,586,653 D91N probably benign Het
Polr2b T A 5: 77,343,263 C984S probably damaging Het
Ppfibp1 A G 6: 146,998,233 R141G probably benign Het
Ppm1d G A 11: 85,326,905 G20R probably damaging Het
Ppp1r16a C T 15: 76,690,799 probably benign Het
Ppp2r5b C A 19: 6,228,431 V483F probably benign Het
Ppp4r4 T A 12: 103,576,374 C132S probably benign Het
Prg2 A G 2: 84,983,456 probably benign Het
Prpf4b G A 13: 34,890,488 probably benign Het
Rad54l2 T C 9: 106,713,455 T491A probably damaging Het
Rnf213 G T 11: 119,414,587 W548L probably damaging Het
Rusc2 G T 4: 43,422,055 C825F probably damaging Het
Sema4b A G 7: 80,219,078 probably benign Het
Sema6a A G 18: 47,290,177 V254A probably damaging Het
Slc13a3 A G 2: 165,424,581 F346L probably damaging Het
Slc25a17 T C 15: 81,337,959 D104G probably damaging Het
Specc1 A T 11: 62,146,313 N707Y possibly damaging Het
Tex48 T A 4: 63,608,459 E76V probably damaging Het
Tfr2 T C 5: 137,577,465 V281A probably benign Het
Tgfb1i1 A C 7: 128,249,494 Q238H probably damaging Het
Thoc6 G A 17: 23,670,239 T122I probably benign Het
Tmtc1 G A 6: 148,412,830 probably benign Het
Tnfrsf8 T C 4: 145,288,047 D264G possibly damaging Het
Trim43a T A 9: 88,584,160 I178N probably damaging Het
Ttn G C 2: 76,707,093 I26503M possibly damaging Het
Usp28 C A 9: 49,039,023 D589E probably benign Het
Utp23 T C 15: 51,882,511 S242P probably damaging Het
Vwa3a A G 7: 120,775,380 Y305C probably benign Het
Vwa5b1 C A 4: 138,608,858 E142* probably null Het
Xrn2 A T 2: 147,029,779 T374S probably damaging Het
Zfp735 A T 11: 73,710,662 Q144L probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTGAATAACTGTGACCAGATGGGC -3'
(R):5'- CCCTGGATCAAGTCAGAAGCAGTG -3'

Sequencing Primer
(F):5'- CCAGATGGGCTGAGAGTACTG -3'
(R):5'- TCAAGTCAGAAGCAGTGTGCTC -3'
Posted On2013-04-11