Incidental Mutation 'R1912:Gfus'
ID 210450
Institutional Source Beutler Lab
Gene Symbol Gfus
Ensembl Gene ENSMUSG00000022570
Gene Name GDP-L-fucose synthase
Synonyms Tsta3, Tstap35b, FX
MMRRC Submission 039930-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1912 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 75924676-75929832 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75925649 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 278 (D278E)
Ref Sequence ENSEMBL: ENSMUSP00000155711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023231] [ENSMUST00000053918] [ENSMUST00000229085] [ENSMUST00000229289] [ENSMUST00000229641] [ENSMUST00000229951] [ENSMUST00000230303] [ENSMUST00000230364] [ENSMUST00000230736] [ENSMUST00000230610]
AlphaFold P23591
Predicted Effect probably benign
Transcript: ENSMUST00000023231
AA Change: D248E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023231
Gene: ENSMUSG00000022570
AA Change: D248E

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

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 benign
Transcript: ENSMUST00000229289
AA Change: D219E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000229641
AA Change: D248E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229786
Predicted Effect possibly damaging
Transcript: ENSMUST00000229951
AA Change: D278E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229997
Predicted Effect probably benign
Transcript: ENSMUST00000230303
Predicted Effect probably benign
Transcript: ENSMUST00000230364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230485
Predicted Effect probably benign
Transcript: ENSMUST00000230736
AA Change: D254E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230884
Predicted Effect probably benign
Transcript: ENSMUST00000230610
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.8%
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: 122 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,554,655 (GRCm38) M132V probably benign Het
4921524L21Rik T A 18: 6,620,205 (GRCm38) I45N possibly damaging Het
Abcb6 A G 1: 75,179,955 (GRCm38) V55A probably benign Het
Adam28 A T 14: 68,644,331 (GRCm38) D105E probably benign Het
Ahnak T C 19: 9,017,881 (GRCm38) S5510P probably damaging Het
Aldh3b1 T G 19: 3,921,187 (GRCm38) D159A probably damaging Het
Alx1 A G 10: 103,025,361 (GRCm38) L102P probably damaging Het
Ankrd50 C T 3: 38,456,776 (GRCm38) V481I probably benign Het
Aox4 G T 1: 58,264,402 (GRCm38) G1200W probably damaging Het
Arhgap45 A C 10: 80,020,690 (GRCm38) D24A probably benign Het
Arhgef16 A T 4: 154,280,323 (GRCm38) probably null Het
Asic4 A T 1: 75,469,232 (GRCm38) Y235F possibly damaging Het
Asph T C 4: 9,453,335 (GRCm38) E646G probably damaging Het
Atg4d A G 9: 21,272,639 (GRCm38) D350G probably damaging Het
Auts2 T C 5: 131,443,574 (GRCm38) T347A probably damaging Het
Bsnd A T 4: 106,488,030 (GRCm38) L73* probably null Het
Cachd1 A T 4: 100,953,169 (GRCm38) S323C probably damaging Het
Cacna1e A G 1: 154,436,449 (GRCm38) I1290T probably damaging Het
Cdh8 T A 8: 99,098,870 (GRCm38) N498Y probably damaging Het
Cdkn3 A G 14: 46,769,834 (GRCm38) probably null Het
Celf2 A T 2: 6,615,753 (GRCm38) M40K probably damaging Het
Cfap57 A C 4: 118,615,010 (GRCm38) S57R probably damaging Het
Cfh A G 1: 140,136,141 (GRCm38) probably null Het
Chdh A G 14: 30,032,788 (GRCm38) S252G probably benign Het
Col8a1 T A 16: 57,627,924 (GRCm38) I408F unknown Het
Corin C T 5: 72,358,403 (GRCm38) C303Y probably damaging Het
Crlf2 C T 5: 109,557,141 (GRCm38) C66Y possibly damaging Het
Csmd1 C T 8: 16,233,998 (GRCm38) probably null Het
Cyp4f16 T C 17: 32,545,044 (GRCm38) V270A probably damaging Het
Defa29 T A 8: 21,326,012 (GRCm38) H113L possibly damaging Het
Dhx35 A T 2: 158,842,307 (GRCm38) N501Y probably damaging Het
Dipk1b A G 2: 26,632,704 (GRCm38) E55G probably damaging Het
Dst A G 1: 34,291,850 (GRCm38) R4690G probably damaging Het
Elac2 T A 11: 64,994,263 (GRCm38) D439E probably benign Het
Ercc6 A G 14: 32,576,803 (GRCm38) R1383G probably damaging Het
Fat3 T A 9: 15,969,988 (GRCm38) Y3196F probably damaging Het
Fbxw13 A T 9: 109,181,543 (GRCm38) D342E probably benign Het
Fmod A G 1: 134,040,720 (GRCm38) N166S possibly damaging Het
Folh1 A G 7: 86,762,967 (GRCm38) S199P possibly damaging Het
Fv1 A G 4: 147,869,778 (GRCm38) N267S possibly damaging Het
Fyn T C 10: 39,526,832 (GRCm38) V200A possibly damaging Het
Ggnbp2 T C 11: 84,862,296 (GRCm38) N39S probably benign Het
Gm10509 A T 17: 21,690,924 (GRCm38) I53F possibly damaging Het
Gpr139 A T 7: 119,144,879 (GRCm38) I161N possibly damaging Het
Grhl2 C T 15: 37,358,407 (GRCm38) T148I probably damaging Het
Hmcn1 C A 1: 150,604,882 (GRCm38) M4514I probably benign Het
Igsf10 T G 3: 59,329,572 (GRCm38) T1063P probably benign Het
Itgav A G 2: 83,795,486 (GRCm38) Y792C possibly damaging Het
Itgb2l T C 16: 96,426,935 (GRCm38) Q456R probably benign Het
Jph4 G A 14: 55,108,361 (GRCm38) A613V probably benign Het
Kcna2 A G 3: 107,105,401 (GRCm38) T433A probably benign Het
Kmt2e A G 5: 23,492,395 (GRCm38) K97R probably benign Het
Krba1 C A 6: 48,415,765 (GRCm38) A871E probably benign Het
Loxhd1 T C 18: 77,340,137 (GRCm38) F468L probably benign Het
Lpin1 A G 12: 16,546,727 (GRCm38) V713A probably damaging Het
Ltbp2 T A 12: 84,785,863 (GRCm38) I67F probably damaging Het
Mdc1 G A 17: 35,844,538 (GRCm38) R35H probably benign Het
Mdc1 A G 17: 35,850,811 (GRCm38) D872G probably benign Het
Mgam C T 6: 40,764,185 (GRCm38) Q959* probably null Het
Mttp T A 3: 138,116,027 (GRCm38) T260S probably benign Het
Naalad2 A T 9: 18,376,535 (GRCm38) D266E probably benign Het
Nans T A 4: 46,500,162 (GRCm38) L182H probably damaging Het
Nbas T A 12: 13,566,144 (GRCm38) C2228S probably benign Het
Nfix A T 8: 84,721,677 (GRCm38) V407E probably damaging Het
Nktr T A 9: 121,750,240 (GRCm38) probably benign Het
Nlrp10 G A 7: 108,925,395 (GRCm38) R293* probably null Het
Nrxn3 T C 12: 88,795,342 (GRCm38) F53S probably damaging Het
Or11h4 G A 14: 50,736,778 (GRCm38) P128L probably damaging Het
Or12e7 T C 2: 87,457,383 (GRCm38) S73P probably damaging Het
Or1e21 A T 11: 73,453,994 (GRCm38) F73I probably damaging Het
Or2f2 T C 6: 42,790,477 (GRCm38) I146T probably benign Het
Or3a1c T C 11: 74,155,885 (GRCm38) C244R probably damaging Het
Or5ak24 T A 2: 85,430,260 (GRCm38) N190Y probably damaging Het
Or5p68 A G 7: 108,346,807 (GRCm38) L58P probably damaging Het
Or6d12 A G 6: 116,515,989 (GRCm38) T71A probably benign Het
Oxld1 A G 11: 120,456,906 (GRCm38) V155A probably damaging Het
Pamr1 T A 2: 102,642,300 (GRCm38) F648Y probably damaging Het
Parg T C 14: 32,210,540 (GRCm38) W446R probably damaging Het
Pate13 A T 9: 35,908,619 (GRCm38) T23S probably benign Het
Phf3 A T 1: 30,804,345 (GRCm38) H1844Q probably damaging Het
Phf7 T C 14: 31,240,324 (GRCm38) I175V possibly damaging Het
Pibf1 G A 14: 99,187,809 (GRCm38) probably null Het
Plcxd1 A G 5: 110,103,442 (GRCm38) I295V probably benign Het
Pole2 A C 12: 69,209,990 (GRCm38) Y254D probably damaging Het
Ppm1e T A 11: 87,244,370 (GRCm38) I225F probably benign Het
Pttg1ip2 C A 5: 5,452,019 (GRCm38) W144C probably benign Het
Rem1 G A 2: 152,634,535 (GRCm38) V238M probably damaging Het
Resf1 T A 6: 149,328,844 (GRCm38) D1129E possibly damaging Het
Rnase2b T G 14: 51,162,900 (GRCm38) V146G probably damaging Het
Rnf169 G A 7: 99,926,254 (GRCm38) T378I probably damaging Het
Rpf2 A G 10: 40,236,201 (GRCm38) F80L probably benign Het
Sec11c T A 18: 65,814,874 (GRCm38) D128E probably damaging Het
Septin12 A G 16: 4,988,553 (GRCm38) V248A probably damaging Het
Serinc1 T C 10: 57,525,451 (GRCm38) N82S probably benign Het
Serpina9 A C 12: 104,001,249 (GRCm38) W296G probably damaging Het
Sgo2b A C 8: 63,931,469 (GRCm38) D164E probably damaging Het
Slc15a3 A G 19: 10,848,613 (GRCm38) N223D probably damaging Het
Slc44a3 A G 3: 121,532,166 (GRCm38) Y12H probably benign Het
Slco3a1 A G 7: 74,504,611 (GRCm38) F42S probably damaging Het
Snrnp40 C G 4: 130,378,043 (GRCm38) probably null Het
Snx7 A T 3: 117,829,668 (GRCm38) probably null Het
Sorl1 A T 9: 42,081,950 (GRCm38) D259E probably damaging Het
Stpg2 G A 3: 139,522,981 (GRCm38) probably null Het
Strn T A 17: 78,684,395 (GRCm38) Y165F probably damaging Het
Sval2 T A 6: 41,864,320 (GRCm38) *106R probably null Het
Tcaf3 A G 6: 42,596,688 (GRCm38) S197P possibly damaging Het
Tespa1 C A 10: 130,354,723 (GRCm38) T73N probably benign Het
Tex10 C T 4: 48,456,800 (GRCm38) R637Q probably benign Het
Thoc5 C A 11: 4,915,561 (GRCm38) T380K probably benign Het
Tmprss7 T A 16: 45,656,548 (GRCm38) R784* probably null Het
Trank1 A T 9: 111,390,709 (GRCm38) L2171F probably benign Het
Trpm2 T G 10: 77,945,876 (GRCm38) K303T probably benign Het
Unc80 G A 1: 66,510,625 (GRCm38) V681M probably damaging Het
Usp40 A G 1: 87,946,646 (GRCm38) F1131L probably benign Het
Vmn1r215 A T 13: 23,076,503 (GRCm38) I238F possibly damaging Het
Vwa3a A T 7: 120,795,627 (GRCm38) Y890F probably damaging Het
Zdhhc18 A G 4: 133,613,860 (GRCm38) L234P probably damaging Het
Zfp109 A G 7: 24,228,251 (GRCm38) S578P probably damaging Het
Zfp704 T C 3: 9,609,358 (GRCm38) D121G unknown Het
Zgrf1 G T 3: 127,563,137 (GRCm38) V671L probably benign Het
Zkscan8 A T 13: 21,520,757 (GRCm38) C265* probably null Het
Zscan26 T C 13: 21,445,140 (GRCm38) I398V possibly damaging Het
Other mutations in Gfus
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Gfus APN 15 75,926,185 (GRCm38) missense probably damaging 0.99
IGL02674:Gfus APN 15 75,926,389 (GRCm38) missense probably damaging 1.00
IGL02830:Gfus APN 15 75,925,588 (GRCm38) missense probably benign 0.00
R0189:Gfus UTSW 15 75,926,978 (GRCm38) missense probably damaging 1.00
R0671:Gfus UTSW 15 75,928,958 (GRCm38) missense possibly damaging 0.61
R1878:Gfus UTSW 15 75,925,369 (GRCm38) missense probably benign 0.12
R1885:Gfus UTSW 15 75,926,989 (GRCm38) missense possibly damaging 0.89
R1886:Gfus UTSW 15 75,926,989 (GRCm38) missense possibly damaging 0.89
R2116:Gfus UTSW 15 75,926,142 (GRCm38) missense probably damaging 1.00
R2393:Gfus UTSW 15 75,926,351 (GRCm38) missense probably damaging 1.00
R9312:Gfus UTSW 15 75,925,320 (GRCm38) missense possibly damaging 0.95
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-06-30