Incidental Mutation 'R9092:Pofut1'
ID 691053
Institutional Source Beutler Lab
Gene Symbol Pofut1
Ensembl Gene ENSMUSG00000046020
Gene Name protein O-fucosyltransferase 1
Synonyms O-FucT-1
MMRRC Submission 068908-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9092 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 153083453-153112167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 153101508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 87 (H87Q)
Ref Sequence ENSEMBL: ENSMUSP00000126395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049863] [ENSMUST00000099191] [ENSMUST00000099192] [ENSMUST00000109794] [ENSMUST00000123487] [ENSMUST00000152390] [ENSMUST00000170297]
AlphaFold Q91ZW2
Predicted Effect probably benign
Transcript: ENSMUST00000049863
SMART Domains Protein: ENSMUSP00000053122
Gene: ENSMUSG00000046020

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:O-FucT 40 381 4.8e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099191
SMART Domains Protein: ENSMUSP00000096796
Gene: ENSMUSG00000046020

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099192
SMART Domains Protein: ENSMUSP00000096797
Gene: ENSMUSG00000046020

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:O-FucT 40 340 3.5e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109794
SMART Domains Protein: ENSMUSP00000105417
Gene: ENSMUSG00000046020

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:O-FucT 40 310 2.2e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123487
AA Change: H87Q

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126395
Gene: ENSMUSG00000046020
AA Change: H87Q

DomainStartEndE-ValueType
Pfam:O-FucT 3 285 3.9e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152390
AA Change: H87Q

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128139
Gene: ENSMUSG00000046020
AA Change: H87Q

DomainStartEndE-ValueType
Pfam:O-FucT 3 286 2.8e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170297
SMART Domains Protein: ENSMUSP00000126063
Gene: ENSMUSG00000046020

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 93% (56/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die by midgestation displaying malformations of the somites, vasculature, heart, and nervous system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chl1 T C 6: 103,645,815 (GRCm39) probably benign Het
Crtc3 T C 7: 80,239,628 (GRCm39) M575V probably benign Het
Cux1 T A 5: 136,514,671 (GRCm39) N22I probably damaging Het
Dcun1d2 G A 8: 13,307,935 (GRCm39) R248W probably damaging Het
Dlc1 G T 8: 37,199,860 (GRCm39) H7Q probably benign Het
Drd2 A G 9: 49,307,004 (GRCm39) D30G probably benign Het
Duxf3 GCCC GCC 10: 58,066,944 (GRCm39) probably null Het
E2f7 T C 10: 110,616,874 (GRCm39) S705P probably benign Het
Ephb3 G A 16: 21,041,214 (GRCm39) S977N probably benign Het
F13a1 T G 13: 37,089,993 (GRCm39) D448A probably benign Het
Fam216b T C 14: 78,322,537 (GRCm39) T56A possibly damaging Het
Fcho2 T C 13: 98,886,391 (GRCm39) T408A probably benign Het
Flvcr1 A T 1: 190,740,364 (GRCm39) V552E Het
Gab3 CTT CTTGTT X: 74,043,612 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,602 (GRCm39) probably benign Het
Galnt15 A G 14: 31,780,196 (GRCm39) K622E probably benign Het
Gjb3 GCCAGATGCGCCCA GCCAGATGCGCCCAGATGCGCCCA 4: 127,220,458 (GRCm39) probably null Het
Gjb3 A AGATGCGCCCG 4: 127,220,471 (GRCm39) probably null Het
Gm5414 T G 15: 101,536,345 (GRCm39) R93S probably benign Het
Gtf2i A G 5: 134,318,241 (GRCm39) *87Q probably null Het
Il7r T A 15: 9,510,270 (GRCm39) H261L probably benign Het
Itsn1 T A 16: 91,609,002 (GRCm39) M250K possibly damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Liat1 A G 11: 75,893,887 (GRCm39) D88G possibly damaging Het
Lrrc47 C A 4: 154,096,421 (GRCm39) T72K possibly damaging Het
Map2k4 C A 11: 65,581,599 (GRCm39) R371L probably benign Het
Mmrn2 T C 14: 34,118,587 (GRCm39) F158L probably benign Het
Mtus1 A T 8: 41,455,475 (GRCm39) L242Q probably damaging Het
Myo5a T C 9: 75,054,414 (GRCm39) probably null Het
Noc3l T A 19: 38,798,487 (GRCm39) K305I probably damaging Het
Or4p8 T C 2: 88,727,321 (GRCm39) T207A probably damaging Het
Pag1 T C 3: 9,764,848 (GRCm39) T102A probably benign Het
Pam A G 1: 97,791,976 (GRCm39) S482P probably benign Het
Pax1 T G 2: 147,204,287 (GRCm39) W23G unknown Het
Pcdhgb1 T A 18: 37,813,989 (GRCm39) V160D possibly damaging Het
Pdzph1 T C 17: 59,280,125 (GRCm39) D719G probably damaging Het
Phlda1 T C 10: 111,342,474 (GRCm39) L70S possibly damaging Het
Pikfyve G A 1: 65,283,559 (GRCm39) R732K probably damaging Het
Pkd1 G T 17: 24,788,347 (GRCm39) V702F possibly damaging Het
Pkhd1 A G 1: 20,632,586 (GRCm39) Y610H probably benign Het
Runx2 C A 17: 45,046,443 (GRCm39) D109Y probably damaging Het
Serpina1b T A 12: 103,696,540 (GRCm39) I290F probably benign Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Sh3tc1 T C 5: 35,874,321 (GRCm39) N198S probably benign Het
Slc27a6 C A 18: 58,742,330 (GRCm39) R515S probably benign Het
Sorbs3 C T 14: 70,445,004 (GRCm39) V25I probably benign Het
Speg A G 1: 75,399,378 (GRCm39) E2275G probably benign Het
Tmem161b C T 13: 84,440,503 (GRCm39) T307I possibly damaging Het
Tmem30a T C 9: 79,678,581 (GRCm39) D361G probably damaging Het
Tmprss11c T C 5: 86,385,495 (GRCm39) T326A probably benign Het
Tpbg T C 9: 85,726,916 (GRCm39) V295A possibly damaging Het
Ulk4 A T 9: 120,903,003 (GRCm39) I1158N Het
Utp20 C A 10: 88,604,679 (GRCm39) A1739S probably benign Het
Utp20 T C 10: 88,611,180 (GRCm39) N1379S probably damaging Het
Vmn1r66 T A 7: 10,008,110 (GRCm39) I308F possibly damaging Het
Vmn2r101 A T 17: 19,809,807 (GRCm39) T198S probably benign Het
Vps16 T C 2: 130,281,593 (GRCm39) I318T probably damaging Het
Wdr11 T A 7: 129,226,451 (GRCm39) W750R probably damaging Het
Zfp608 A G 18: 55,031,648 (GRCm39) I764T probably benign Het
Zfp708 C A 13: 67,218,564 (GRCm39) D420Y probably damaging Het
Other mutations in Pofut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Pofut1 APN 2 153,090,393 (GRCm39) missense probably damaging 1.00
IGL01778:Pofut1 APN 2 153,090,448 (GRCm39) missense probably damaging 1.00
IGL02457:Pofut1 APN 2 153,090,516 (GRCm39) nonsense probably null
R1183:Pofut1 UTSW 2 153,103,158 (GRCm39) missense probably benign 0.08
R1473:Pofut1 UTSW 2 153,103,166 (GRCm39) missense probably damaging 0.98
R1637:Pofut1 UTSW 2 153,107,709 (GRCm39) missense probably damaging 1.00
R2060:Pofut1 UTSW 2 153,085,580 (GRCm39) missense probably benign 0.22
R2106:Pofut1 UTSW 2 153,101,713 (GRCm39) critical splice donor site probably null
R2205:Pofut1 UTSW 2 153,103,167 (GRCm39) missense probably damaging 1.00
R5070:Pofut1 UTSW 2 153,103,486 (GRCm39) intron probably benign
R5994:Pofut1 UTSW 2 153,103,149 (GRCm39) missense possibly damaging 0.50
R6029:Pofut1 UTSW 2 153,101,713 (GRCm39) critical splice donor site probably null
R6174:Pofut1 UTSW 2 153,101,536 (GRCm39) missense probably damaging 1.00
R6650:Pofut1 UTSW 2 153,101,270 (GRCm39) intron probably benign
R7615:Pofut1 UTSW 2 153,101,338 (GRCm39) missense unknown
R8744:Pofut1 UTSW 2 153,101,461 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAATTCCGTGCGGCTGGAAC -3'
(R):5'- GCAGATGAATGCCCACATAGG -3'

Sequencing Primer
(F):5'- ATATTGTGCCTGCTGTCTCCAC -3'
(R):5'- CACATAGGGCCGGACGAG -3'
Posted On 2021-12-30