Incidental Mutation 'IGL01775:Pofut1'
ID 154064
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 # IGL01775
Quality Score
Status
Chromosome 2
Chromosomal Location 153083453-153112167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153090393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 96 (F96I)
Ref Sequence ENSEMBL: ENSMUSP00000105417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049863] [ENSMUST00000099191] [ENSMUST00000099192] [ENSMUST00000109794] [ENSMUST00000170297]
AlphaFold Q91ZW2
Predicted Effect probably damaging
Transcript: ENSMUST00000049863
AA Change: F96I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053122
Gene: ENSMUSG00000046020
AA Change: F96I

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: F96I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096797
Gene: ENSMUSG00000046020
AA Change: F96I

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: F96I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105417
Gene: ENSMUSG00000046020
AA Change: F96I

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: L55H
SMART Domains Protein: ENSMUSP00000126063
Gene: ENSMUSG00000046020
AA Change: L55H

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A T 11: 84,361,963 (GRCm39) L333Q probably damaging Het
Ablim3 A T 18: 61,949,989 (GRCm39) probably benign Het
Acsl6 T C 11: 54,236,826 (GRCm39) probably benign Het
Adra1b T A 11: 43,726,128 (GRCm39) D263V probably damaging Het
Aicda G A 6: 122,538,012 (GRCm39) V57M probably damaging Het
C2cd3 T C 7: 100,092,638 (GRCm39) W494R probably damaging Het
Ccnb1 T C 13: 100,920,017 (GRCm39) S165G probably benign Het
Cnot4 A T 6: 35,046,411 (GRCm39) probably benign Het
Dph6 A T 2: 114,348,776 (GRCm39) probably benign Het
Emc3 A G 6: 113,508,296 (GRCm39) S50P possibly damaging Het
Fbxo45 A C 16: 32,052,093 (GRCm39) probably null Het
Gm14496 A T 2: 181,642,125 (GRCm39) T599S probably benign Het
Gspt1 T C 16: 11,041,159 (GRCm39) I535V possibly damaging Het
Hemk1 A G 9: 107,207,995 (GRCm39) I215T possibly damaging Het
Ighm A T 12: 113,386,087 (GRCm39) C88S unknown Het
Itih2 A C 2: 10,134,097 (GRCm39) D38E probably benign Het
Lat C A 7: 125,967,261 (GRCm39) V113L probably benign Het
Mical2 T A 7: 111,981,269 (GRCm39) F480L possibly damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Msh2 A T 17: 87,990,074 (GRCm39) N254I possibly damaging Het
Naglu T C 11: 100,964,921 (GRCm39) M336T probably damaging Het
Nhsl1 C T 10: 18,400,222 (GRCm39) R483C probably damaging Het
Nsmaf C T 4: 6,396,791 (GRCm39) E899K possibly damaging Het
Nup85 T C 11: 115,471,593 (GRCm39) Y181H probably damaging Het
Or52n2 A T 7: 104,542,499 (GRCm39) M112K possibly damaging Het
Or5m5 T C 2: 85,815,014 (GRCm39) S277P probably damaging Het
Or7g35 A T 9: 19,496,001 (GRCm39) Q56L probably benign Het
Or8g23 C A 9: 38,971,763 (GRCm39) L66F probably damaging Het
P2rx3 C T 2: 84,854,501 (GRCm39) R91H probably benign Het
Plag1 T C 4: 3,904,513 (GRCm39) D226G probably damaging Het
Prim1 A G 10: 127,865,112 (GRCm39) N399S probably benign Het
Prkd3 G T 17: 79,320,189 (GRCm39) T51K probably damaging Het
Ptprc T C 1: 137,992,497 (GRCm39) Y1210C probably damaging Het
Rbm43 A T 2: 51,815,460 (GRCm39) S254T probably damaging Het
Retsat G A 6: 72,584,300 (GRCm39) R528Q probably damaging Het
Rlig1 A T 10: 100,419,799 (GRCm39) L94Q probably benign Het
Rps8 C A 4: 117,012,249 (GRCm39) R56L probably benign Het
Samhd1 A T 2: 156,956,250 (GRCm39) probably benign Het
Sfxn1 T C 13: 54,259,758 (GRCm39) probably benign Het
Stk33 T A 7: 108,911,574 (GRCm39) E396D possibly damaging Het
Tcaim T C 9: 122,647,890 (GRCm39) V135A probably damaging Het
Thsd7b A G 1: 129,556,676 (GRCm39) D421G probably damaging Het
Unc80 A G 1: 66,640,215 (GRCm39) D1374G possibly damaging Het
Wnk2 C A 13: 49,224,586 (GRCm39) D232Y probably damaging Het
Zfand1 T C 3: 10,409,926 (GRCm39) T145A probably damaging Het
Other mutations in Pofut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9092:Pofut1 UTSW 2 153,101,508 (GRCm39) missense probably benign 0.32
Posted On 2014-02-04