Incidental Mutation 'IGL02457:Pofut1'
ID294429
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 #IGL02457
Quality Score
Status
Chromosome2
Chromosomal Location153241533-153270247 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 153248596 bp
ZygosityHeterozygous
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]
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: 181,494,334 D343G probably benign Het
Acot10 T C 15: 20,666,143 S171G possibly damaging Het
Actr3b T C 5: 25,849,162 probably null Het
Adamts17 T C 7: 67,027,814 M492T probably damaging Het
Akap4 A C X: 7,077,468 N670T probably benign Het
Atrip A G 9: 109,065,231 S55P possibly damaging Het
Bend3 A T 10: 43,509,950 E113V probably damaging Het
Ccdc158 A C 5: 92,650,048 I411S probably damaging Het
Cd163l1 G A 7: 140,220,395 G30S probably benign Het
Cfap97 G T 8: 46,170,278 C235F possibly damaging Het
Chil4 T C 3: 106,214,399 N45D probably benign Het
D430041D05Rik A G 2: 104,249,345 V1131A probably damaging Het
Defb38 T C 8: 19,026,536 probably benign Het
Dnah10 T A 5: 124,789,796 W2260R probably damaging Het
Ecsit A G 9: 22,078,204 S14P probably damaging Het
Eif3l T C 15: 79,078,096 F106L probably benign Het
Erich5 G T 15: 34,470,853 G76V probably damaging Het
Evpl A G 11: 116,230,113 L432P possibly damaging Het
Fbxw10 T C 11: 62,874,982 F698L probably damaging Het
Frem2 A T 3: 53,521,049 S2866T probably damaging Het
Fuca1 G A 4: 135,934,762 V334I probably benign Het
Hprt T A X: 53,002,133 H60Q probably benign Het
Kirrel2 T C 7: 30,452,740 N481S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lilr4b T A 10: 51,481,238 Y57N probably benign Het
Lix1l A G 3: 96,614,476 Y126C probably damaging Het
Lox T C 18: 52,521,316 D347G probably damaging Het
Mak16 C T 8: 31,164,725 R147Q possibly damaging Het
Ndst2 G A 14: 20,729,554 A206V possibly damaging Het
Olfr356 A T 2: 36,937,748 I210F probably damaging Het
Olfr450 T A 6: 42,818,242 I257N probably damaging Het
Phldb1 T C 9: 44,716,474 M225V probably benign Het
Polr2a T C 11: 69,743,250 probably benign Het
Prdm5 T A 6: 65,881,116 L388Q probably damaging Het
Rad51c A G 11: 87,380,855 S344P possibly damaging Het
Sdk1 C T 5: 141,953,016 P398L probably damaging Het
Sec63 G A 10: 42,801,733 probably benign Het
Sgo1 A T 17: 53,676,961 L463Q probably damaging Het
Slc5a6 A G 5: 31,040,658 L291P probably damaging Het
Smarcb1 T C 10: 75,921,371 T9A probably benign Het
Sp3 A G 2: 72,971,469 W67R probably damaging Het
Ssxb9 A C X: 21,174,995 S23A probably benign Het
Syne1 A G 10: 5,342,167 L1367S probably damaging Het
Tbc1d23 T A 16: 57,170,391 I690F probably damaging Het
Tdgf1 C T 9: 110,942,623 C32Y probably damaging Het
Tmed5 A T 5: 108,124,550 S227R probably benign Het
Tnrc6c T A 11: 117,722,977 S814T probably benign Het
Trbv2 C T 6: 41,047,971 T107I probably benign Het
Trpm6 T C 19: 18,825,791 V866A probably damaging Het
Trpm6 A T 19: 18,827,398 K905* probably null Het
Ttn A G 2: 76,709,310 V34444A probably benign Het
Vmn1r86 C T 7: 13,102,780 M56I probably benign Het
Vmn2r17 A C 5: 109,453,146 D770A probably damaging Het
Wnk4 T C 11: 101,269,563 probably benign Het
Xaf1 T C 11: 72,303,431 M46T possibly damaging Het
Other mutations in Pofut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Pofut1 APN 2 153248473 missense probably damaging 1.00
IGL01778:Pofut1 APN 2 153248528 missense probably damaging 1.00
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
R7615:Pofut1 UTSW 2 153259418 missense unknown
Posted On2015-04-16