Incidental Mutation 'IGL02457:Pofut1'
ID 294429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pofut1
Ensembl Gene ENSMUSG00000046020
Gene Name protein O-fucosyltransferase 1
Synonyms O-FucT-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02457
Quality Score
Status
Chromosome 2
Chromosomal Location 153083453-153112167 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 153090516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 137 (Q137*)
Ref Sequence ENSEMBL: ENSMUSP00000105417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049863] [ENSMUST00000099191] [ENSMUST00000099192] [ENSMUST00000109794] [ENSMUST00000170297]
AlphaFold Q91ZW2
Predicted Effect probably null
Transcript: ENSMUST00000049863
AA Change: Q137*
SMART Domains Protein: ENSMUSP00000053122
Gene: ENSMUSG00000046020
AA Change: Q137*

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 null
Transcript: ENSMUST00000099192
AA Change: Q137*
SMART Domains Protein: ENSMUSP00000096797
Gene: ENSMUSG00000046020
AA Change: Q137*

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:O-FucT 40 340 3.5e-82 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109794
AA Change: Q137*
SMART Domains Protein: ENSMUSP00000105417
Gene: ENSMUSG00000046020
AA Change: Q137*

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 probably benign
Transcript: ENSMUST00000170297
SMART Domains Protein: ENSMUSP00000126063
Gene: ENSMUSG00000046020

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,136,127 (GRCm39) D343G probably benign Het
Acot10 T C 15: 20,666,229 (GRCm39) S171G possibly damaging Het
Actr3b T C 5: 26,054,160 (GRCm39) probably null Het
Adamts17 T C 7: 66,677,562 (GRCm39) M492T probably damaging Het
Akap4 A C X: 6,943,707 (GRCm39) N670T probably benign Het
Atrip A G 9: 108,894,299 (GRCm39) S55P possibly damaging Het
Bend3 A T 10: 43,385,946 (GRCm39) E113V probably damaging Het
Ccdc158 A C 5: 92,797,907 (GRCm39) I411S probably damaging Het
Cfap97 G T 8: 46,623,315 (GRCm39) C235F possibly damaging Het
Chil4 T C 3: 106,121,715 (GRCm39) N45D probably benign Het
Cripto C T 9: 110,771,691 (GRCm39) C32Y probably damaging Het
D430041D05Rik A G 2: 104,079,690 (GRCm39) V1131A probably damaging Het
Defb38 T C 8: 19,076,552 (GRCm39) probably benign Het
Dnah10 T A 5: 124,866,860 (GRCm39) W2260R probably damaging Het
Ecsit A G 9: 21,989,500 (GRCm39) S14P probably damaging Het
Eif3l T C 15: 78,962,296 (GRCm39) F106L probably benign Het
Erich5 G T 15: 34,470,999 (GRCm39) G76V probably damaging Het
Evpl A G 11: 116,120,939 (GRCm39) L432P possibly damaging Het
Fbxw10 T C 11: 62,765,808 (GRCm39) F698L probably damaging Het
Frem2 A T 3: 53,428,470 (GRCm39) S2866T probably damaging Het
Fuca1 G A 4: 135,662,073 (GRCm39) V334I probably benign Het
Hprt1 T A X: 52,091,010 (GRCm39) H60Q probably benign Het
Kirrel2 T C 7: 30,152,165 (GRCm39) N481S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lilrb4b T A 10: 51,357,334 (GRCm39) Y57N probably benign Het
Lix1l A G 3: 96,521,792 (GRCm39) Y126C probably damaging Het
Lox T C 18: 52,654,388 (GRCm39) D347G probably damaging Het
Mak16 C T 8: 31,654,753 (GRCm39) R147Q possibly damaging Het
Ndst2 G A 14: 20,779,622 (GRCm39) A206V possibly damaging Het
Or1ak2 A T 2: 36,827,760 (GRCm39) I210F probably damaging Het
Or2q1 T A 6: 42,795,176 (GRCm39) I257N probably damaging Het
Phldb1 T C 9: 44,627,771 (GRCm39) M225V probably benign Het
Polr2a T C 11: 69,634,076 (GRCm39) probably benign Het
Prdm5 T A 6: 65,858,100 (GRCm39) L388Q probably damaging Het
Rad51c A G 11: 87,271,681 (GRCm39) S344P possibly damaging Het
Scart1 G A 7: 139,800,308 (GRCm39) G30S probably benign Het
Sdk1 C T 5: 141,938,771 (GRCm39) P398L probably damaging Het
Sec63 G A 10: 42,677,729 (GRCm39) probably benign Het
Sgo1 A T 17: 53,983,989 (GRCm39) L463Q probably damaging Het
Slc5a6 A G 5: 31,198,002 (GRCm39) L291P probably damaging Het
Smarcb1 T C 10: 75,757,205 (GRCm39) T9A probably benign Het
Sp3 A G 2: 72,801,813 (GRCm39) W67R probably damaging Het
Ssxb9 A C X: 21,041,234 (GRCm39) S23A probably benign Het
Syne1 A G 10: 5,292,167 (GRCm39) L1367S probably damaging Het
Tbc1d23 T A 16: 56,990,754 (GRCm39) I690F probably damaging Het
Tmed5 A T 5: 108,272,416 (GRCm39) S227R probably benign Het
Tnrc6c T A 11: 117,613,803 (GRCm39) S814T probably benign Het
Trbv2 C T 6: 41,024,905 (GRCm39) T107I probably benign Het
Trpm6 T C 19: 18,803,155 (GRCm39) V866A probably damaging Het
Trpm6 A T 19: 18,804,762 (GRCm39) K905* probably null Het
Ttn A G 2: 76,539,654 (GRCm39) V34444A probably benign Het
Vmn1r86 C T 7: 12,836,707 (GRCm39) M56I probably benign Het
Vmn2r17 A C 5: 109,601,012 (GRCm39) D770A probably damaging Het
Wnk4 T C 11: 101,160,389 (GRCm39) probably benign Het
Xaf1 T C 11: 72,194,257 (GRCm39) M46T possibly 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
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
R9092:Pofut1 UTSW 2 153,101,508 (GRCm39) missense probably benign 0.32
Posted On 2015-04-16