Mutagenetix > Incidental Mutation

Incidental Mutation 'R6650:Pofut1'

527728

Institutional Source

Beutler Lab

Gene Symbol

Pofut1

Ensembl Gene

ENSMUSG00000046020

Gene Name

protein O-fucosyltransferase 1

Synonyms

O-FucT-1

MMRRC Submission

044771-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153083453-153112167 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 153101270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126063 (fasta)

Gene Model

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

AlphaFold

Q91ZW2

Predicted Effect

probably benign
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 benign
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 benign
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

unknown
Transcript: ENSMUST00000123487
AA Change: I8N

SMART Domains

Protein: ENSMUSP00000126395
Gene: ENSMUSG00000046020
AA Change: I8N

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

Predicted Effect

unknown
Transcript: ENSMUST00000152390
AA Change: I8N

SMART Domains

Protein: ENSMUSP00000128139
Gene: ENSMUSG00000046020
AA Change: I8N

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

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,659,639 (GRCm39)	N97S	probably benign	Het
Aph1a	T	C	3: 95,803,598 (GRCm39)	V220A	probably benign	Het
Bin2	T	A	15: 100,567,301 (GRCm39)	Q25L	probably damaging	Het
Ccdc102a	T	C	8: 95,639,892 (GRCm39)	E134G	probably benign	Het
Cdh6	A	G	15: 13,051,487 (GRCm39)	V382A	probably benign	Het
Cep135	T	A	5: 76,781,548 (GRCm39)	V845E	possibly damaging	Het
Cngb3	T	C	4: 19,364,168 (GRCm39)	L124P	probably damaging	Het
Cped1	A	G	6: 22,233,975 (GRCm39)	N725S	probably damaging	Het
Dcn	C	A	10: 97,343,605 (GRCm39)	N188K	probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Ercc3	C	T	18: 32,394,389 (GRCm39)	R590C	probably damaging	Het
Fchsd1	A	T	18: 38,099,555 (GRCm39)	L213*	probably null	Het
Fmod	A	G	1: 133,968,745 (GRCm39)	S262G	probably benign	Het
Gm45861	T	C	8: 27,995,043 (GRCm39)	S530P	unknown	Het
Ifih1	T	C	2: 62,436,791 (GRCm39)	D544G	possibly damaging	Het
Itpr1	A	G	6: 108,371,034 (GRCm39)		probably null	Het
Larp1	CA	CAA	11: 57,949,422 (GRCm39)		probably null	Het
Lbp	T	A	2: 158,151,587 (GRCm39)	S102R	probably benign	Het
Lepr	C	A	4: 101,672,398 (GRCm39)	Q1141K	probably damaging	Het
Mcm8	C	A	2: 132,663,327 (GRCm39)	N148K	probably benign	Het
Mcpt4	T	G	14: 56,298,090 (GRCm39)	T154P	possibly damaging	Het
Mrpl22	A	G	11: 58,066,134 (GRCm39)	Y76C	probably damaging	Het
Msln	T	C	17: 25,969,144 (GRCm39)	I414V	probably benign	Het
Ncor1	G	A	11: 62,225,367 (GRCm39)	T1798I	probably damaging	Het
Nlrp4c	T	A	7: 6,068,948 (GRCm39)	F283Y	probably damaging	Het
Os9	C	T	10: 126,935,953 (GRCm39)		probably null	Het
Pira12	T	A	7: 3,898,632 (GRCm39)	Q272L	probably benign	Het
Pira13	T	A	7: 3,819,898 (GRCm39)	H555L	possibly damaging	Het
Pja2	T	C	17: 64,599,936 (GRCm39)	E516G	probably damaging	Het
Prl2b1	G	T	13: 27,569,249 (GRCm39)	H116Q	probably benign	Het
Ralgapa2	T	C	2: 146,230,422 (GRCm39)	K1048E	probably damaging	Het
Scnn1b	G	A	7: 121,502,043 (GRCm39)	V234M	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Sh3pxd2a	C	T	19: 47,256,663 (GRCm39)	G685D	probably benign	Het
Six4	C	A	12: 73,150,299 (GRCm39)	G749C	probably benign	Het
Tnn	G	A	1: 159,942,153 (GRCm39)	T1115I	probably damaging	Het
Tpcn1	T	A	5: 120,675,627 (GRCm39)	Q779L	probably null	Het
Ugt2a2	A	G	5: 87,622,459 (GRCm39)	Y380H	probably damaging	Het
Xkr8	T	C	4: 132,455,249 (GRCm39)	T375A	probably benign	Het
Zdhhc20	T	A	14: 58,096,032 (GRCm39)	K135N	probably damaging	Het
Zfp235	T	A	7: 23,836,463 (GRCm39)		probably null	Het
Zfp354c	A	G	11: 50,705,518 (GRCm39)	V519A	probably damaging	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
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
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'- AGTGGGACCAACATTGTCTG -3'
(R):5'- CACAGGATGCTCTTTTGCAGG -3'

Sequencing Primer
(F):5'- GACCAACATTGTCTGTGTAAGCAGC -3'
(R):5'- CAGGATGCTCTTTTGCAGGAAATC -3'

Posted On

2018-07-23