Incidental Mutation 'R9715:Fut9'
ID 730384
Institutional Source Beutler Lab
Gene Symbol Fut9
Ensembl Gene ENSMUSG00000055373
Gene Name fucosyltransferase 9
Synonyms mFuc-TIX, mFUT9
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9715 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 25609332-25800244 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25620679 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 45 (S45I)
Ref Sequence ENSEMBL: ENSMUSP00000081826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084770] [ENSMUST00000108199]
AlphaFold O88819
Predicted Effect probably benign
Transcript: ENSMUST00000084770
AA Change: S45I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000081826
Gene: ENSMUSG00000055373
AA Change: S45I

DomainStartEndE-ValueType
Pfam:Glyco_transf_10 6 358 2.9e-140 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108199
AA Change: S45I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103834
Gene: ENSMUSG00000055373
AA Change: S45I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_tran_10_N 61 169 1.4e-43 PFAM
Pfam:Glyco_transf_10 185 357 4.8e-69 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased number of neuronal stem cells with increased self-renewal capacity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001C02Rik G C 5: 30,483,917 D170H possibly damaging Het
Abcc6 C T 7: 45,979,935 V1323I probably damaging Het
Adam20 G A 8: 40,795,453 R200H probably benign Het
Ahnak GATCTCTAT GAT 19: 9,007,029 probably benign Het
Cbr3 A G 16: 93,685,053 D99G probably benign Het
Ccdc17 T A 4: 116,597,893 L215Q probably damaging Het
Cep350 A G 1: 155,875,361 Y2022H probably benign Het
Cnbd2 T C 2: 156,341,627 S338P probably benign Het
D5Ertd579e A T 5: 36,629,685 V113D possibly damaging Het
Dhx30 A G 9: 110,087,650 F570S probably damaging Het
Ephb1 T C 9: 101,971,185 N679S probably damaging Het
Faxc T C 4: 21,993,307 I317T probably damaging Het
Fgd5 T C 6: 91,988,309 Y508H possibly damaging Het
Foxd2 G T 4: 114,907,998 A275E unknown Het
Gm5148 T C 3: 37,714,652 N140D unknown Het
Gpr37l1 C T 1: 135,161,653 G225S probably damaging Het
Gramd1c G A 16: 44,005,477 S107L possibly damaging Het
Gtpbp2 A G 17: 46,167,375 D483G Het
Ik G A 18: 36,753,513 R346H probably benign Het
Ino80e A T 7: 126,861,926 Y50N unknown Het
Kbtbd2 A G 6: 56,779,581 V390A probably benign Het
Limch1 A C 5: 66,999,017 N276H probably damaging Het
Mrvi1 A T 7: 110,871,433 S898T possibly damaging Het
Negr1 T G 3: 157,069,299 probably null Het
Ngef G A 1: 87,503,288 P269L probably damaging Het
Nlrp14 G A 7: 107,182,419 M274I probably benign Het
Nr1d1 T C 11: 98,772,117 I17V probably benign Het
Olfr1277 T C 2: 111,270,278 I30V probably benign Het
Olfr286 T A 15: 98,227,021 D210V probably damaging Het
Olfr488 A G 7: 108,255,991 I49T probably benign Het
Ppip5k2 A G 1: 97,749,587 V334A Het
Ppp1r9a G A 6: 5,045,936 V467I probably damaging Het
Ppp2r2c A G 5: 36,940,144 I225V possibly damaging Het
Ptpro A T 6: 137,368,110 N38I probably damaging Het
Scn2a C A 2: 65,748,805 Q1495K possibly damaging Het
Scn7a A T 2: 66,689,558 Y1001N possibly damaging Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,153,382 probably benign Het
Sh3bgrl2 T A 9: 83,548,460 M1K probably null Het
Slc25a12 C T 2: 71,279,555 V516M probably benign Het
Sptbn4 A G 7: 27,391,575 L1402P probably damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,301,649 probably benign Het
Svop A G 5: 114,060,108 S135P probably benign Het
Sycp2 G T 2: 178,394,164 D243E probably damaging Het
Tcerg1 T C 18: 42,573,348 F1030S probably damaging Het
Tecta T A 9: 42,375,300 N687Y probably damaging Het
Tep1 A T 14: 50,844,302 H1230Q Het
Tfap2b T C 1: 19,214,149 S94P probably damaging Het
Tll2 C A 19: 41,103,799 G533V probably damaging Het
Vmn2r55 A G 7: 12,668,134 V409A probably damaging Het
Wdr41 A G 13: 95,008,865 E194G probably damaging Het
Zan G T 5: 137,400,555 S4182R unknown Het
Zfpl1 T C 19: 6,084,044 Y40C probably damaging Het
Znrf3 C A 11: 5,282,454 R257L possibly damaging Het
Other mutations in Fut9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Fut9 APN 4 25620316 missense possibly damaging 0.71
IGL01134:Fut9 APN 4 25620446 missense probably benign 0.13
IGL01330:Fut9 APN 4 25619791 missense possibly damaging 0.95
IGL01732:Fut9 APN 4 25619867 missense possibly damaging 0.58
IGL02824:Fut9 APN 4 25620037 missense probably damaging 1.00
ANU74:Fut9 UTSW 4 25620802 missense probably benign 0.25
R0280:Fut9 UTSW 4 25619852 missense probably benign 0.00
R0408:Fut9 UTSW 4 25620319 missense possibly damaging 0.69
R0594:Fut9 UTSW 4 25620526 missense possibly damaging 0.94
R0609:Fut9 UTSW 4 25620811 start codon destroyed probably null 0.98
R0709:Fut9 UTSW 4 25620359 missense probably damaging 1.00
R1567:Fut9 UTSW 4 25620344 missense probably damaging 0.99
R1719:Fut9 UTSW 4 25619744 missense possibly damaging 0.62
R1856:Fut9 UTSW 4 25620352 missense probably damaging 1.00
R2036:Fut9 UTSW 4 25620322 missense probably damaging 1.00
R2165:Fut9 UTSW 4 25619733 makesense probably null
R2165:Fut9 UTSW 4 25619734 makesense probably null
R2332:Fut9 UTSW 4 25619823 nonsense probably null
R4539:Fut9 UTSW 4 25619793 missense probably damaging 1.00
R4722:Fut9 UTSW 4 25799734 utr 5 prime probably benign
R4766:Fut9 UTSW 4 25799191 intron probably benign
R4937:Fut9 UTSW 4 25799591 splice site probably benign
R5025:Fut9 UTSW 4 25620502 missense probably damaging 1.00
R5032:Fut9 UTSW 4 25799245 intron probably benign
R5158:Fut9 UTSW 4 25620731 missense probably benign 0.01
R5601:Fut9 UTSW 4 25620299 missense probably benign 0.00
R5974:Fut9 UTSW 4 25620090 nonsense probably null
R6315:Fut9 UTSW 4 25619774 missense probably damaging 1.00
R6385:Fut9 UTSW 4 25620328 missense probably damaging 1.00
R6652:Fut9 UTSW 4 25620619 missense probably benign 0.44
R6809:Fut9 UTSW 4 25620647 missense probably benign
R6825:Fut9 UTSW 4 25619925 missense probably benign
R7145:Fut9 UTSW 4 25620507 missense probably damaging 0.96
R7573:Fut9 UTSW 4 25620691 missense probably benign 0.04
R8933:Fut9 UTSW 4 25619861 missense probably damaging 1.00
X0057:Fut9 UTSW 4 25799686 start gained probably benign
Predicted Primers PCR Primer
(F):5'- GACCGCATGGGATTTGTTGTAC -3'
(R):5'- CTGAAAGGGAATTAGAGTTGGTTTC -3'

Sequencing Primer
(F):5'- CATGGGATTTGTTGTACAATGAGC -3'
(R):5'- CTCTCTTCCCCAGGAAAA -3'
Posted On 2022-10-06