Mutagenetix > Incidental Mutation

Incidental Mutation 'R2106:Pofut1'

230938

Institutional Source

Beutler Lab

Gene Symbol

Pofut1

Ensembl Gene

ENSMUSG00000046020

Gene Name

protein O-fucosyltransferase 1

Synonyms

O-FucT-1

MMRRC Submission

040110-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2106 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153083453-153112167 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 153101713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049863] [ENSMUST00000099191] [ENSMUST00000099192] [ENSMUST00000109794] [ENSMUST00000109794] [ENSMUST00000123487] [ENSMUST00000152390] [ENSMUST00000170297]

AlphaFold

Q91ZW2

Predicted Effect

probably null
Transcript: ENSMUST00000049863

SMART Domains

Protein: ENSMUSP00000053122
Gene: ENSMUSG00000046020

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000099192

SMART Domains

Protein: ENSMUSP00000096797
Gene: ENSMUSG00000046020

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:O-FucT	40	340	3.5e-82	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109794

SMART Domains

Protein: ENSMUSP00000105417
Gene: ENSMUSG00000046020

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:O-FucT	40	310	2.2e-75	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109794

SMART Domains

Protein: ENSMUSP00000105417
Gene: ENSMUSG00000046020

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:O-FucT	40	310	2.2e-75	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123487

SMART Domains

Protein: ENSMUSP00000126395
Gene: ENSMUSG00000046020

Domain	Start	End	E-Value	Type
Pfam:O-FucT	3	285	3.9e-54	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000152390

SMART Domains

Protein: ENSMUSP00000128139
Gene: ENSMUSG00000046020

Domain	Start	End	E-Value	Type
Pfam:O-FucT	3	286	2.8e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170297

SMART Domains

Protein: ENSMUSP00000126063
Gene: ENSMUSG00000046020

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC

Meta Mutation Damage Score

0.9596

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.2%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	T	C	2: 26,992,837 (GRCm39)	F650S	probably benign	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akr1c13	T	A	13: 4,248,593 (GRCm39)	V266E	probably damaging	Het
Ankrd61	A	T	5: 143,828,564 (GRCm39)	L95Q	probably damaging	Het
Atp11a	A	G	8: 12,885,228 (GRCm39)	T22A	probably benign	Het
Brca1	A	G	11: 101,415,803 (GRCm39)	V777A	possibly damaging	Het
Ccdc40	G	T	11: 119,155,123 (GRCm39)	R1121L	probably damaging	Het
Cdhr4	A	C	9: 107,874,693 (GRCm39)	S588R	possibly damaging	Het
Cfap69	T	C	5: 5,645,979 (GRCm39)	N517D	probably benign	Het
Chrm2	T	C	6: 36,500,382 (GRCm39)	Y80H	probably damaging	Het
Cimip2a	A	G	2: 25,110,663 (GRCm39)	Y157C	probably damaging	Het
Csgalnact2	G	T	6: 118,086,090 (GRCm39)	Y534*	probably null	Het
Defb35	A	G	8: 22,430,809 (GRCm39)	E61G	unknown	Het
Dhx15	A	T	5: 52,327,428 (GRCm39)	D95E	probably benign	Het
Dhx57	A	G	17: 80,582,792 (GRCm39)	V271A	probably damaging	Het
Dlg1	T	C	16: 31,631,574 (GRCm39)	S444P	probably damaging	Het
Edem1	T	A	6: 108,825,686 (GRCm39)	N406K	probably damaging	Het
Eif4g3	A	T	4: 137,810,230 (GRCm39)		probably benign	Het
Epb41	A	G	4: 131,717,152 (GRCm39)	I56T	probably damaging	Het
Epg5	T	A	18: 78,034,578 (GRCm39)	Y1442*	probably null	Het
Fat2	T	C	11: 55,147,390 (GRCm39)	T3951A	probably benign	Het
Fryl	A	G	5: 73,255,674 (GRCm39)	S786P	probably damaging	Het
Fyb2	A	G	4: 104,802,769 (GRCm39)	T224A	probably benign	Het
Ginm1	A	T	10: 7,651,090 (GRCm39)	F105L	probably damaging	Het
Heatr1	T	C	13: 12,426,939 (GRCm39)	V688A	probably benign	Het
Hnmt	T	G	2: 23,909,130 (GRCm39)	Q94H	probably benign	Het
Ice1	A	G	13: 70,753,741 (GRCm39)	Y782H	probably benign	Het
Immt	T	C	6: 71,848,499 (GRCm39)	V418A	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Krt84	T	C	15: 101,439,301 (GRCm39)	N248D	probably damaging	Het
Lig1	C	A	7: 13,039,863 (GRCm39)	R692S	probably damaging	Het
Lvrn	G	T	18: 47,011,356 (GRCm39)	A438S	probably damaging	Het
Mast4	C	T	13: 102,887,054 (GRCm39)	V1204I	probably damaging	Het
Med21	G	T	6: 146,550,710 (GRCm39)	D74Y	probably damaging	Het
Nat8	T	C	6: 85,807,506 (GRCm39)	D209G	probably benign	Het
Nipal1	C	A	5: 72,820,902 (GRCm39)	F132L	probably damaging	Het
Npr2	A	T	4: 43,644,329 (GRCm39)	I613F	probably damaging	Het
Nrcam	A	G	12: 44,617,073 (GRCm39)	T706A	probably benign	Het
Or5w1b	A	G	2: 87,475,895 (GRCm39)	S191P	probably damaging	Het
Or8w1	T	C	2: 87,465,503 (GRCm39)	E196G	probably benign	Het
Pam	A	G	1: 97,759,215 (GRCm39)	V823A	probably damaging	Het
Pdik1l	A	T	4: 134,011,565 (GRCm39)	Y93N	probably damaging	Het
Perm1	T	C	4: 156,303,336 (GRCm39)	W627R	probably damaging	Het
Prmt5	T	C	14: 54,745,374 (GRCm39)	I598V	probably benign	Het
Rab11fip5	T	C	6: 85,351,369 (GRCm39)	I48V	probably damaging	Het
Rad51d	T	A	11: 82,770,134 (GRCm39)	K261N	probably damaging	Het
Rapgef6	T	G	11: 54,559,512 (GRCm39)	I1050S	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,468,474 (GRCm39)	E4688G	probably damaging	Het
Siva1	G	T	12: 112,613,440 (GRCm39)	R96L	probably damaging	Het
Slc13a4	T	C	6: 35,264,799 (GRCm39)	N140S	probably damaging	Het
Slc26a5	T	A	5: 22,028,542 (GRCm39)	D342V	probably damaging	Het
Slfn9	A	G	11: 82,878,506 (GRCm39)	S208P	possibly damaging	Het
Sspo	C	A	6: 48,443,250 (GRCm39)	T1899N	possibly damaging	Het
Sytl1	T	C	4: 132,984,774 (GRCm39)	D200G	probably benign	Het
Tas2r118	T	C	6: 23,969,569 (GRCm39)	N164S	probably benign	Het
Tbc1d17	A	G	7: 44,497,692 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,377,076 (GRCm39)	M140T	possibly damaging	Het
Tm6sf2	T	C	8: 70,532,396 (GRCm39)	F352S	probably benign	Het
Tmem88	A	G	11: 69,288,685 (GRCm39)	L78P	probably benign	Het
Trafd1	A	G	5: 121,511,274 (GRCm39)	S515P	probably benign	Het
Trpm6	A	T	19: 18,790,714 (GRCm39)	E583V	possibly damaging	Het
Ttc23l	A	G	15: 10,547,342 (GRCm39)	C91R	probably damaging	Het
Ubap1l	T	C	9: 65,281,089 (GRCm39)	S256P	probably benign	Het
Vmn1r26	T	G	6: 57,985,710 (GRCm39)	S160R	possibly damaging	Het
Vmn2r97	A	G	17: 19,168,100 (GRCm39)	S785G	probably damaging	Het
Wdr27	T	G	17: 15,141,116 (GRCm39)	R278S	probably benign	Het
Wdr7	T	C	18: 63,911,109 (GRCm39)	S834P	probably damaging	Het
Zdhhc12	C	T	2: 29,981,814 (GRCm39)	C116Y	probably damaging	Het
Zfp946	T	C	17: 22,672,466 (GRCm39)	F22L	probably benign	Het
Zfp948	G	T	17: 21,807,953 (GRCm39)	E382*	probably null	Het
Zfp956	T	A	6: 47,941,359 (GRCm39)	*573K	probably null	Het
Zim1	T	G	7: 6,681,073 (GRCm39)	T197P	probably benign	Het

Other mutations in Pofut1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCTGCAAAAGAGCATCCTG -3'
(R):5'- TGACTTAATGGCCGAGTTTACC -3'

Sequencing Primer
(F):5'- TGTGCTCGCACTGCCTG -3'
(R):5'- AATGGCCGAGTTTACCCATGTG -3'

Posted On

2014-09-18