Incidental Mutation 'R2516:Gmds'
ID253837
Institutional Source Beutler Lab
Gene Symbol Gmds
Ensembl Gene ENSMUSG00000038372
Gene NameGDP-mannose 4, 6-dehydratase
Synonyms
MMRRC Submission 040420-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2516 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location31819579-32338740 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32100473 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 219 (V219I)
Ref Sequence ENSEMBL: ENSMUSP00000036696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041859]
Predicted Effect probably damaging
Transcript: ENSMUST00000041859
AA Change: V219I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036696
Gene: ENSMUSG00000038372
AA Change: V219I

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: ENSMUST00000222438
Meta Mutation Damage Score 0.5048 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (65/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,329,329 I6N possibly damaging Het
Aen T C 7: 78,905,868 V188A probably damaging Het
Afg3l1 A G 8: 123,501,954 E753G probably damaging Het
Alas1 G A 9: 106,238,660 T385I probably damaging Het
Alms1 C A 6: 85,667,963 probably benign Het
Ankrd65 A G 4: 155,791,411 T30A possibly damaging Het
App T C 16: 84,978,229 S582G probably damaging Het
Arfgef1 A T 1: 10,153,654 V1473E possibly damaging Het
Arhgap21 G A 2: 20,854,998 P1196S probably damaging Het
Arhgap24 A G 5: 102,891,910 T238A probably benign Het
Atf7 T C 15: 102,529,004 probably benign Het
Best1 G T 19: 9,993,311 S55* probably null Het
Capn11 A G 17: 45,633,799 V514A probably damaging Het
Cep104 T A 4: 153,989,146 M52K probably damaging Het
Clca3a1 C T 3: 144,737,858 probably null Het
Cyp3a25 T C 5: 146,003,027 probably null Het
Dmxl2 G A 9: 54,400,094 P2197S probably damaging Het
Drosha T C 15: 12,859,465 probably null Het
Exosc9 A G 3: 36,563,162 K355R probably benign Het
Fut1 A C 7: 45,619,198 H192P probably benign Het
Gm572 T A 4: 148,664,384 V166D possibly damaging Het
Gm9966 C T 7: 95,958,528 P19S unknown Het
Gsn G A 2: 35,283,953 E25K probably benign Het
Il4i1 T C 7: 44,839,891 F368S probably damaging Het
Irak1bp1 T C 9: 82,830,320 L98P probably damaging Het
Khdrbs3 T C 15: 69,024,695 probably benign Het
Kndc1 T C 7: 139,921,822 I925T probably damaging Het
Laptm4a T C 12: 8,938,151 I296T probably benign Het
Lpl A T 8: 68,887,518 H55L probably benign Het
Lrrk2 C A 15: 91,755,927 N1558K probably benign Het
Mfsd2a A G 4: 122,950,487 L289P probably damaging Het
Mmrn2 T A 14: 34,398,802 M543K probably benign Het
Mnat1 T C 12: 73,181,776 probably benign Het
Msto1 A T 3: 88,911,893 probably null Het
Mtus1 A G 8: 41,082,739 Y647H probably damaging Het
Nars A T 18: 64,505,016 V289E probably damaging Het
Oit3 T A 10: 59,428,345 K322N probably damaging Het
Oit3 G A 10: 59,441,685 probably benign Het
Olfr1024 A G 2: 85,904,556 I166T probably benign Het
Olfr1467 T A 19: 13,365,193 C188* probably null Het
Olfr728 T C 14: 50,139,983 I219V probably benign Het
Olfr801 G A 10: 129,670,286 R78W probably damaging Het
Pecr A T 1: 72,277,310 C79S probably damaging Het
Plekhn1 T C 4: 156,222,659 D478G probably damaging Het
Pls1 A T 9: 95,776,563 M264K probably benign Het
Ptprj C A 2: 90,474,996 probably benign Het
Pygm A G 19: 6,397,601 D646G probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Scn8a T C 15: 100,969,162 V283A probably benign Het
Shisa5 T C 9: 109,056,507 probably null Het
Slc10a4 A G 5: 73,008,505 I246V possibly damaging Het
Slc1a1 A T 19: 28,892,912 I104F probably benign Het
Slc22a8 A G 19: 8,610,195 Y511C probably benign Het
Slc6a5 A G 7: 49,956,462 N706S probably benign Het
Sos2 T C 12: 69,650,659 K96E probably damaging Het
Stom G A 2: 35,315,965 R251* probably null Het
Sycp1 T C 3: 102,845,066 E800G probably benign Het
Tab2 G A 10: 7,907,481 P679L probably damaging Het
Tiam2 G A 17: 3,453,382 V945I probably damaging Het
Trpm5 G T 7: 143,074,517 P1007Q probably damaging Het
Uchl1 T G 5: 66,682,613 I139S probably damaging Het
Vmn1r232 A G 17: 20,914,026 I104T possibly damaging Het
Vmn2r97 G A 17: 18,947,552 M689I probably benign Het
Zc3h18 A T 8: 122,403,165 probably benign Het
Zfhx4 C T 3: 5,403,358 P2859S probably benign Het
Zfp456 T C 13: 67,362,372 K99R 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
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
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'- CCATATTTGTGTCAGCAGAAGC -3'
(R):5'- AGAATTAGAGCTTCTTAACGTGTCC -3'

Sequencing Primer
(F):5'- GTGCCGGCCTCACATTTAAAG -3'
(R):5'- GAGCTTCTTAACGTGTCCAAATGAC -3'
Posted On2014-12-04