Incidental Mutation 'R5994:Pofut1'
ID 480982
Institutional Source Beutler Lab
Gene Symbol Pofut1
Ensembl Gene ENSMUSG00000046020
Gene Name protein O-fucosyltransferase 1
Synonyms O-FucT-1
MMRRC Submission 044173-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5994 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 153241533-153270247 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 153261229 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 261 (T261I)
Ref Sequence ENSEMBL: ENSMUSP00000105417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049863] [ENSMUST00000099191] [ENSMUST00000099192] [ENSMUST00000109794] [ENSMUST00000123487] [ENSMUST00000152390] [ENSMUST00000170297]
AlphaFold Q91ZW2
Predicted Effect possibly damaging
Transcript: ENSMUST00000049863
AA Change: T261I

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000053122
Gene: ENSMUSG00000046020
AA Change: T261I

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
AA Change: T261I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096797
Gene: ENSMUSG00000046020
AA Change: T261I

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:O-FucT 40 340 3.5e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109794
AA Change: T261I

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105417
Gene: ENSMUSG00000046020
AA Change: T261I

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: T165I

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126395
Gene: ENSMUSG00000046020
AA Change: T165I

DomainStartEndE-ValueType
Pfam:O-FucT 3 285 3.9e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152390
AA Change: T166I

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128139
Gene: ENSMUSG00000046020
AA Change: T166I

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,670,903 (GRCm38) H1118L probably benign Het
Abca8b A G 11: 109,949,766 (GRCm38) probably null Het
Abcb5 A T 12: 118,965,260 (GRCm38) probably null Het
Adcy6 A T 15: 98,593,664 (GRCm38) I1016N probably damaging Het
Afg3l2 A T 18: 67,429,070 (GRCm38) C312S probably damaging Het
Ano8 C T 8: 71,484,834 (GRCm38) V89M probably damaging Het
Arhgap21 C T 2: 20,881,376 (GRCm38) G330D possibly damaging Het
Caskin1 T C 17: 24,496,961 (GRCm38) L195P probably damaging Het
Cfap54 A G 10: 93,039,081 (GRCm38) I514T probably damaging Het
Ctdsp2 G A 10: 126,995,820 (GRCm38) probably benign Het
Cyp4x1 T C 4: 115,121,945 (GRCm38) I152V probably benign Het
Dglucy G A 12: 100,842,700 (GRCm38) R219Q probably benign Het
Disp3 G T 4: 148,254,284 (GRCm38) A810E possibly damaging Het
Dtx4 T C 19: 12,501,153 (GRCm38) Y22C probably damaging Het
Edaradd A T 13: 12,478,496 (GRCm38) I105N probably damaging Het
Eepd1 C T 9: 25,603,453 (GRCm38) P519S probably damaging Het
Fscn3 A T 6: 28,430,295 (GRCm38) S155C probably benign Het
Gm10134 A T 2: 28,506,246 (GRCm38) E51V probably damaging Het
Gm7247 C T 14: 51,364,348 (GRCm38) S26F probably benign Het
Golga7 T C 8: 23,250,265 (GRCm38) E83G probably benign Het
Gpr12 T C 5: 146,583,431 (GRCm38) H227R probably damaging Het
Hoxa2 T G 6: 52,164,392 (GRCm38) S85R possibly damaging Het
Hrnr T C 3: 93,332,300 (GRCm38) S3282P unknown Het
Ift74 C A 4: 94,691,724 (GRCm38) T543K possibly damaging Het
Klf10 C A 15: 38,296,041 (GRCm38) R420L probably damaging Het
Krt77 T A 15: 101,862,855 (GRCm38) I338F probably damaging Het
Limch1 A T 5: 66,974,622 (GRCm38) S152C probably damaging Het
Mgat4e T A 1: 134,541,496 (GRCm38) H270L probably benign Het
Myrf A T 19: 10,219,117 (GRCm38) L504Q probably null Het
Nckipsd A G 9: 108,813,977 (GRCm38) Q366R probably benign Het
Npy5r A T 8: 66,682,099 (GRCm38) V14D probably benign Het
Nrap T A 19: 56,351,599 (GRCm38) R830* probably null Het
Ogfrl1 A T 1: 23,378,989 (GRCm38) Y103N probably damaging Het
Olfr978 A T 9: 39,994,223 (GRCm38) R138* probably null Het
P2rx4 T A 5: 122,725,079 (GRCm38) L232H probably damaging Het
Pabpc2 A T 18: 39,773,894 (GRCm38) T71S probably benign Het
Paip2b C A 6: 83,808,885 (GRCm38) S121I probably damaging Het
Ppp6c G T 2: 39,210,992 (GRCm38) T46K possibly damaging Het
Prkd2 C A 7: 16,850,336 (GRCm38) H371Q probably benign Het
Prrc2c A T 1: 162,674,156 (GRCm38) probably null Het
Psd3 C T 8: 67,719,968 (GRCm38) A894T probably damaging Het
Pygm A T 19: 6,398,043 (GRCm38) probably null Het
Pzp A T 6: 128,491,597 (GRCm38) M989K probably damaging Het
Ralgapa2 A T 2: 146,361,453 (GRCm38) S1159T probably benign Het
Rapgefl1 T C 11: 98,850,160 (GRCm38) F575L probably benign Het
Rassf6 A G 5: 90,617,768 (GRCm38) L28S probably damaging Het
Rbp3 G T 14: 33,954,900 (GRCm38) K268N probably damaging Het
Rela C T 19: 5,647,064 (GRCm38) T433M possibly damaging Het
Rnf103 T A 6: 71,496,910 (GRCm38) S102R probably damaging Het
Scarf2 A G 16: 17,806,379 (GRCm38) N516S probably damaging Het
Sdcbp2 T C 2: 151,587,483 (GRCm38) I241T probably damaging Het
Sept7 T C 9: 25,288,198 (GRCm38) I131T possibly damaging Het
Sh3pxd2b T C 11: 32,407,570 (GRCm38) F191L probably damaging Het
Siglec15 C A 18: 78,047,375 (GRCm38) C236F probably damaging Het
Slc11a2 T C 15: 100,397,681 (GRCm38) T520A probably benign Het
Slc26a11 C A 11: 119,379,912 (GRCm38) F553L probably benign Het
Smchd1 G A 17: 71,365,409 (GRCm38) P1596S possibly damaging Het
Taar7b A G 10: 24,000,348 (GRCm38) H137R probably damaging Het
Thap12 T A 7: 98,716,030 (GRCm38) C468* probably null Het
Timp4 C T 6: 115,247,354 (GRCm38) G118D probably damaging Het
Tnnt3 A G 7: 142,511,266 (GRCm38) K48E probably damaging Het
Trmt10a T A 3: 138,156,714 (GRCm38) I255N probably damaging Het
Ttll10 T C 4: 156,048,732 (GRCm38) probably null Het
Ube4b A G 4: 149,372,932 (GRCm38) Y283H probably damaging Het
Ucp1 G T 8: 83,293,938 (GRCm38) V126L possibly damaging Het
Unc13b T A 4: 43,172,596 (GRCm38) probably benign Het
Vps13b T C 15: 35,875,772 (GRCm38) S2768P probably damaging Het
Zcchc6 T G 13: 59,789,209 (GRCm38) Y806S probably damaging Het
Zfp101 T A 17: 33,380,962 (GRCm38) M607L probably benign Het
Zfp292 C T 4: 34,805,464 (GRCm38) V2527M possibly damaging Het
Zfp503 T A 14: 21,985,562 (GRCm38) T429S possibly damaging Het
Other mutations in Pofut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Pofut1 APN 2 153,248,473 (GRCm38) missense probably damaging 1.00
IGL01778:Pofut1 APN 2 153,248,528 (GRCm38) missense probably damaging 1.00
IGL02457:Pofut1 APN 2 153,248,596 (GRCm38) nonsense probably null
R1183:Pofut1 UTSW 2 153,261,238 (GRCm38) missense probably benign 0.08
R1473:Pofut1 UTSW 2 153,261,246 (GRCm38) missense probably damaging 0.98
R1637:Pofut1 UTSW 2 153,265,789 (GRCm38) missense probably damaging 1.00
R2060:Pofut1 UTSW 2 153,243,660 (GRCm38) missense probably benign 0.22
R2106:Pofut1 UTSW 2 153,259,793 (GRCm38) critical splice donor site probably null
R2205:Pofut1 UTSW 2 153,261,247 (GRCm38) missense probably damaging 1.00
R5070:Pofut1 UTSW 2 153,261,566 (GRCm38) intron probably benign
R6029:Pofut1 UTSW 2 153,259,793 (GRCm38) critical splice donor site probably null
R6174:Pofut1 UTSW 2 153,259,616 (GRCm38) missense probably damaging 1.00
R6650:Pofut1 UTSW 2 153,259,350 (GRCm38) intron probably benign
R7615:Pofut1 UTSW 2 153,259,418 (GRCm38) missense unknown
R8744:Pofut1 UTSW 2 153,259,541 (GRCm38) missense probably benign 0.00
R9092:Pofut1 UTSW 2 153,259,588 (GRCm38) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- CCCTTAGCCCTTAGTGCTATTAATA -3'
(R):5'- CAGAGTCTGTGGCGATGTAG -3'

Sequencing Primer
(F):5'- ATGCACAAAGCCCTGGGTTC -3'
(R):5'- ATGTAGACCGATCTGGCATTCAG -3'
Posted On 2017-06-26