Incidental Mutation 'IGL01778:Pofut1'
ID153746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pofut1
Ensembl Gene ENSMUSG00000046020
Gene Nameprotein O-fucosyltransferase 1
SynonymsO-FucT-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01778
Quality Score
Status
Chromosome2
Chromosomal Location153241533-153270247 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 153248528 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 114 (M114K)
Ref Sequence ENSEMBL: ENSMUSP00000105417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049863] [ENSMUST00000099191] [ENSMUST00000099192] [ENSMUST00000109794] [ENSMUST00000170297]
Predicted Effect probably damaging
Transcript: ENSMUST00000049863
AA Change: M114K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053122
Gene: ENSMUSG00000046020
AA Change: M114K

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 damaging
Transcript: ENSMUST00000099192
AA Change: M114K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096797
Gene: ENSMUSG00000046020
AA Change: M114K

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:O-FucT 40 340 3.5e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109794
AA Change: M114K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105417
Gene: ENSMUSG00000046020
AA Change: M114K

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:O-FucT 40 310 2.2e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123158
Predicted Effect unknown
Transcript: ENSMUST00000170297
AA Change: H73Q
SMART Domains Protein: ENSMUSP00000126063
Gene: ENSMUSG00000046020
AA Change: H73Q

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Pofut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Pofut1 APN 2 153248473 missense probably damaging 1.00
IGL02457:Pofut1 APN 2 153248596 nonsense probably null
R1183:Pofut1 UTSW 2 153261238 missense probably benign 0.08
R1473:Pofut1 UTSW 2 153261246 missense probably damaging 0.98
R1637:Pofut1 UTSW 2 153265789 missense probably damaging 1.00
R2060:Pofut1 UTSW 2 153243660 missense probably benign 0.22
R2106:Pofut1 UTSW 2 153259793 critical splice donor site probably null
R2205:Pofut1 UTSW 2 153261247 missense probably damaging 1.00
R5070:Pofut1 UTSW 2 153261566 intron probably benign
R5994:Pofut1 UTSW 2 153261229 missense possibly damaging 0.50
R6029:Pofut1 UTSW 2 153259793 critical splice donor site probably null
R6174:Pofut1 UTSW 2 153259616 missense probably damaging 1.00
R6650:Pofut1 UTSW 2 153259350 intron probably benign
Posted On2014-02-04