Mutagenetix > Incidental Mutation

Incidental Mutation 'R6174:Pofut1'

488178

Institutional Source

Beutler Lab

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 #

R6174 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153083453-153112167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 153101536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 192 (H192Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096797 (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: H192Y

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053122
Gene: ENSMUSG00000046020
AA Change: H192Y

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

silent
Transcript: ENSMUST00000099191

SMART Domains

Protein: ENSMUSP00000096796
Gene: ENSMUSG00000046020

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099192
AA Change: H192Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096797
Gene: ENSMUSG00000046020
AA Change: H192Y

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 damaging
Transcript: ENSMUST00000109794
AA Change: H192Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105417
Gene: ENSMUSG00000046020
AA Change: H192Y

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

possibly damaging
Transcript: ENSMUST00000123487
AA Change: H97Y

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126395
Gene: ENSMUSG00000046020
AA Change: H97Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152390
AA Change: H97Y

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128139
Gene: ENSMUSG00000046020
AA Change: H97Y

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,919,517 (GRCm39)	D725E	probably damaging	Het
Bco1	T	A	8: 117,840,273 (GRCm39)	Y264N	probably damaging	Het
Cd109	G	A	9: 78,572,828 (GRCm39)		probably null	Het
Cdc45	T	C	16: 18,613,454 (GRCm39)		probably null	Het
Ckap5	A	G	2: 91,398,564 (GRCm39)	E578G	probably benign	Het
Cracr2b	T	A	7: 141,044,749 (GRCm39)	L193Q	probably damaging	Het
Dmxl2	G	A	9: 54,301,011 (GRCm39)	L2367F	probably damaging	Het
Dop1b	T	G	16: 93,563,110 (GRCm39)	D871E	probably damaging	Het
Emc1	T	C	4: 139,093,842 (GRCm39)	Y651H	probably benign	Het
Enox1	T	C	14: 77,745,627 (GRCm39)	S41P	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,384 (GRCm39)	Y399C	probably damaging	Het
Foxa1	A	G	12: 57,589,686 (GRCm39)	L178P	probably damaging	Het
Gm57859	C	A	11: 113,579,801 (GRCm39)	H399N	possibly damaging	Het
Grm7	T	A	6: 111,223,258 (GRCm39)	Y433N	probably benign	Het
Gsta5	T	A	9: 78,211,737 (GRCm39)	Y166*	probably null	Het
Gtf3c2	G	A	5: 31,315,555 (GRCm39)	R813C	probably damaging	Het
H4c9	T	A	13: 22,225,247 (GRCm39)	T83S	probably benign	Het
Hacd3	T	C	9: 64,912,909 (GRCm39)	E117G	probably damaging	Het
Hmcn1	G	A	1: 150,522,535 (GRCm39)	T3455M	probably benign	Het
Itga6	A	G	2: 71,664,053 (GRCm39)	I61V	possibly damaging	Het
Jaml	T	C	9: 45,000,071 (GRCm39)	L81P	probably damaging	Het
Loxhd1	T	C	18: 77,499,874 (GRCm39)	F782S	probably damaging	Het
Lrp1b	T	C	2: 41,339,275 (GRCm39)	H742R	probably benign	Het
Macrod2	G	T	2: 140,242,895 (GRCm39)	M1I	probably null	Het
Mcf2l	G	A	8: 13,063,849 (GRCm39)	W1020*	probably null	Het
Msgn1	A	G	12: 11,258,924 (GRCm39)	L9P	probably damaging	Het
Ngdn	C	A	14: 55,259,556 (GRCm39)	S202R	probably benign	Het
Notch1	C	T	2: 26,375,454 (GRCm39)	G50R	possibly damaging	Het
Or14c46	A	T	7: 85,918,009 (GRCm39)	D329E	probably benign	Het
Or1a1b	A	T	11: 74,097,466 (GRCm39)	I192N	probably damaging	Het
Or2d2b	A	T	7: 106,705,714 (GRCm39)	M118K	probably damaging	Het
Or5d14	A	T	2: 87,880,646 (GRCm39)	C107*	probably null	Het
Osbpl10	A	G	9: 114,938,555 (GRCm39)	S211G	probably benign	Het
Pabpc6	G	A	17: 9,887,084 (GRCm39)	A489V	probably benign	Het
Pcdhb13	A	T	18: 37,576,474 (GRCm39)	D284V	possibly damaging	Het
Pde6c	T	C	19: 38,128,677 (GRCm39)	S214P	possibly damaging	Het
Pou3f2	T	C	4: 22,486,960 (GRCm39)	D391G	possibly damaging	Het
Prc1	G	A	7: 79,954,544 (GRCm39)	S165N	probably benign	Het
Prex1	A	G	2: 166,414,883 (GRCm39)	V304A	probably benign	Het
Ptpru	T	C	4: 131,513,065 (GRCm39)	I881V	probably benign	Het
Radil	A	G	5: 142,472,870 (GRCm39)	S847P	probably benign	Het
Rimklb	A	G	6: 122,433,371 (GRCm39)	S317P	probably damaging	Het
Sdhc	A	T	1: 170,966,271 (GRCm39)	L78*	probably null	Het
Skint6	T	A	4: 112,696,510 (GRCm39)	I1042F	possibly damaging	Het
Slc1a6	T	A	10: 78,637,741 (GRCm39)	D422E	probably damaging	Het
Slc29a1	A	T	17: 45,900,854 (GRCm39)	H71Q	probably damaging	Het
Slfn14	A	T	11: 83,167,429 (GRCm39)	D695E	probably damaging	Het
Spg11	A	T	2: 121,917,286 (GRCm39)		probably null	Het
Srgap2	A	G	1: 131,217,354 (GRCm39)	V986A	probably benign	Het
Stab1	A	T	14: 30,884,476 (GRCm39)	C172*	probably null	Het
Tigd4	A	G	3: 84,502,574 (GRCm39)	H497R	probably benign	Het
Ubn2	G	A	6: 38,438,471 (GRCm39)	G60D	probably damaging	Het
Uckl1	C	T	2: 181,214,866 (GRCm39)		probably null	Het
Vmn2r24	A	T	6: 123,793,236 (GRCm39)	K854N	probably benign	Het
Vps13d	G	A	4: 144,701,763 (GRCm39)	Q3193*	probably null	Het
Wdr26	G	A	1: 181,019,433 (GRCm39)	L315F	probably damaging	Het
Zc3h8	C	A	2: 128,785,775 (GRCm39)	E24*	probably null	Het
Zfp39	A	G	11: 58,782,213 (GRCm39)	V183A	probably benign	Het
Zfp608	C	A	18: 55,121,616 (GRCm39)		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
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
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'- TAAATTCCGTGCGGCTGGAAC -3'
(R):5'- CCAATGCGCAGATGAATGCC -3'

Sequencing Primer
(F):5'- CCAAGGTTTCTTATCAGCCAGTTGAG -3'
(R):5'- CGCAGATGAATGCCCACATAGG -3'

Posted On

2017-10-10