Incidental Mutation 'R9312:Gfus'
ID 705679
Institutional Source Beutler Lab
Gene Symbol Gfus
Ensembl Gene ENSMUSG00000022570
Gene Name GDP-L-fucose synthase
Synonyms Tsta3, Tstap35b, FX
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 75796532-75801613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75797169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 292 (Y292C)
Ref Sequence ENSEMBL: ENSMUSP00000023231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023231] [ENSMUST00000053918] [ENSMUST00000229085] [ENSMUST00000229289] [ENSMUST00000229641] [ENSMUST00000229951] [ENSMUST00000230303] [ENSMUST00000230364] [ENSMUST00000230610] [ENSMUST00000230736]
AlphaFold P23591
Predicted Effect possibly damaging
Transcript: ENSMUST00000023231
AA Change: Y292C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023231
Gene: ENSMUSG00000022570
AA Change: Y292C

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 8 74 1.2e-9 PFAM
Pfam:Epimerase 10 245 1.7e-59 PFAM
Pfam:GDP_Man_Dehyd 37 311 3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053918
SMART Domains Protein: ENSMUSP00000049605
Gene: ENSMUSG00000022571

DomainStartEndE-ValueType
Pfam:F420_oxidored 10 104 1.2e-17 PFAM
Pfam:P5CR_dimer 166 270 5.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229085
Predicted Effect probably damaging
Transcript: ENSMUST00000229289
AA Change: Y263C

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229641
AA Change: Y292C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000229951
AA Change: Y322C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000230303
Predicted Effect probably benign
Transcript: ENSMUST00000230364
Predicted Effect probably benign
Transcript: ENSMUST00000230610
Predicted Effect probably damaging
Transcript: ENSMUST00000230736
AA Change: Y298C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation frequently die in utero, while survivors are smaller than normal, show colon abnormalities, have reduced fertility, and frequently die before weaning. Heterozygotes also show some embryonic loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 A G 7: 139,565,791 (GRCm39) L607P probably damaging Het
Adamts16 T A 13: 70,949,045 (GRCm39) R205S probably damaging Het
Adgra3 T C 5: 50,117,900 (GRCm39) Y1216C probably damaging Het
Arl3 A G 19: 46,531,964 (GRCm39) V91A probably damaging Het
Bckdhb A T 9: 83,870,833 (GRCm39) K114N probably benign Het
Cabin1 A T 10: 75,561,569 (GRCm39) D150E probably benign Het
Cadps G A 14: 12,616,095 (GRCm38) R312C probably damaging Het
Cep120 A G 18: 53,860,713 (GRCm39) I239T probably benign Het
Clec4g T A 8: 3,768,371 (GRCm39) E120V probably null Het
Col18a1 T C 10: 76,894,606 (GRCm39) E1022G probably damaging Het
Cyfip2 A G 11: 46,167,709 (GRCm39) I231T possibly damaging Het
Dcaf17 T C 2: 70,908,458 (GRCm39) Y228H probably benign Het
Ddx41 T A 13: 55,683,842 (GRCm39) Q52L probably benign Het
Dync2h1 T C 9: 7,050,413 (GRCm39) Y3212C probably damaging Het
Etv4 A G 11: 101,664,923 (GRCm39) Y177H probably benign Het
Fer1l5 A G 1: 36,460,248 (GRCm39) E1910G probably damaging Het
Fgf11 G T 11: 69,689,412 (GRCm39) H195Q probably damaging Het
Gatb A G 3: 85,561,070 (GRCm39) K529E probably damaging Het
Gsdmc C A 15: 63,649,806 (GRCm39) A362S probably damaging Het
Gucy1b1 A T 3: 81,942,123 (GRCm39) N545K probably damaging Het
Heatr1 A G 13: 12,446,565 (GRCm39) H1638R probably benign Het
Hecw1 T G 13: 14,546,567 (GRCm39) I145L probably damaging Het
Hmmr A G 11: 40,614,316 (GRCm39) V124A possibly damaging Het
Il31ra C T 13: 112,686,023 (GRCm39) V89I probably benign Het
Kcnmb3 A T 3: 32,536,575 (GRCm39) M51K probably benign Het
Lamb1 C T 12: 31,368,352 (GRCm39) R1209C probably damaging Het
Lcn6 G T 2: 25,570,074 (GRCm39) G80V probably benign Het
Lgsn A G 1: 31,243,280 (GRCm39) E454G probably benign Het
Loxhd1 G A 18: 77,498,285 (GRCm39) M1624I probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mapk8ip3 T C 17: 25,146,925 (GRCm39) probably null Het
Mlip A G 9: 77,147,060 (GRCm39) Y26H probably damaging Het
Nipsnap1 A C 11: 4,839,902 (GRCm39) I208L possibly damaging Het
Nusap1 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 2: 119,458,119 (GRCm39) probably benign Het
Or5m11 T A 2: 85,781,509 (GRCm39) V34D possibly damaging Het
Pigr C T 1: 130,762,185 (GRCm39) T7M probably benign Het
Pigu T C 2: 155,199,315 (GRCm39) M1V probably null Het
Pkd1 T A 17: 24,797,364 (GRCm39) I2568N probably damaging Het
Psmd4 A T 3: 94,940,729 (GRCm39) S345T probably benign Het
Rab3gap2 A T 1: 185,015,684 (GRCm39) M1321L probably benign Het
Rnf157 A G 11: 116,240,158 (GRCm39) probably null Het
Sart3 C T 5: 113,900,935 (GRCm39) E168K possibly damaging Het
Scnn1g A G 7: 121,339,818 (GRCm39) K206E probably benign Het
Smg6 A C 11: 74,820,877 (GRCm39) S383R probably benign Het
Smurf1 G T 5: 144,830,893 (GRCm39) P294H probably damaging Het
Sspo A T 6: 48,445,396 (GRCm39) H2279L probably benign Het
Tacc2 A T 7: 130,223,978 (GRCm39) D221V probably benign Het
Tgm6 T A 2: 129,977,701 (GRCm39) H13Q probably benign Het
Tnfaip8l2 T C 3: 95,047,767 (GRCm39) D32G probably damaging Het
Tppp A G 13: 74,179,377 (GRCm39) D167G probably damaging Het
Trak1 A G 9: 121,280,757 (GRCm39) E382G probably benign Het
Trdv2-1 C T 14: 54,183,570 (GRCm39) T14I probably benign Het
Ubr3 A T 2: 69,784,677 (GRCm39) D799V probably damaging Het
Usp28 T A 9: 48,926,439 (GRCm39) Y317* probably null Het
Vmn1r225 C T 17: 20,722,960 (GRCm39) L134F probably benign Het
Vmn2r86 A G 10: 130,288,406 (GRCm39) I365T probably benign Het
Wfikkn2 A G 11: 94,129,497 (GRCm39) S215P probably damaging Het
Xrcc2 A G 5: 25,897,124 (GRCm39) V275A probably damaging Het
Zfp423 T A 8: 88,508,569 (GRCm39) I592F probably damaging Het
Other mutations in Gfus
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Gfus APN 15 75,798,034 (GRCm39) missense probably damaging 0.99
IGL02674:Gfus APN 15 75,798,238 (GRCm39) missense probably damaging 1.00
IGL02830:Gfus APN 15 75,797,437 (GRCm39) missense probably benign 0.00
R0189:Gfus UTSW 15 75,798,827 (GRCm39) missense probably damaging 1.00
R0671:Gfus UTSW 15 75,800,807 (GRCm39) missense possibly damaging 0.61
R1878:Gfus UTSW 15 75,797,218 (GRCm39) missense probably benign 0.12
R1885:Gfus UTSW 15 75,798,838 (GRCm39) missense possibly damaging 0.89
R1886:Gfus UTSW 15 75,798,838 (GRCm39) missense possibly damaging 0.89
R1912:Gfus UTSW 15 75,797,498 (GRCm39) missense possibly damaging 0.81
R2116:Gfus UTSW 15 75,797,991 (GRCm39) missense probably damaging 1.00
R2393:Gfus UTSW 15 75,798,200 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTAAAGGGTCTGGTGAC -3'
(R):5'- GGCTAACAACACCATTTTGTTTCTG -3'

Sequencing Primer
(F):5'- GTGACCAAGCCGGCAAAGC -3'
(R):5'- TCTGGTGGTGCTTGCCC -3'
Posted On 2022-03-25