Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Pofut1'

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

Chromosomal Location

153083453-153112167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 153103149 bp (GRCm39)

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

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
AA Change: T261I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096797
Gene: ENSMUSG00000046020
AA Change: T261I

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

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

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 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

Domain	Start	End	E-Value	Type
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

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: 99.5%
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,647,862 (GRCm39)	H1118L	probably benign	Het
Abca8b	A	G	11: 109,840,592 (GRCm39)		probably null	Het
Abcb5	A	T	12: 118,928,995 (GRCm39)		probably null	Het
Adcy6	A	T	15: 98,491,545 (GRCm39)	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,562,140 (GRCm39)	C312S	probably damaging	Het
Ano8	C	T	8: 71,937,478 (GRCm39)	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,886,187 (GRCm39)	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,715,935 (GRCm39)	L195P	probably damaging	Het
Cfap54	A	G	10: 92,874,943 (GRCm39)	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,831,689 (GRCm39)		probably benign	Het
Cyp4x1	T	C	4: 114,979,142 (GRCm39)	I152V	probably benign	Het
Dglucy	G	A	12: 100,808,959 (GRCm39)	R219Q	probably benign	Het
Disp3	G	T	4: 148,338,741 (GRCm39)	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,478,517 (GRCm39)	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,493,377 (GRCm39)	I105N	probably damaging	Het
Eepd1	C	T	9: 25,514,749 (GRCm39)	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,294 (GRCm39)	S155C	probably benign	Het
Gm10134	A	T	2: 28,396,258 (GRCm39)	E51V	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Golga7	T	C	8: 23,740,281 (GRCm39)	E83G	probably benign	Het
Gpr12	T	C	5: 146,520,241 (GRCm39)	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,141,372 (GRCm39)	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,239,607 (GRCm39)	S3282P	unknown	Het
Ift74	C	A	4: 94,579,961 (GRCm39)	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,285 (GRCm39)	R420L	probably damaging	Het
Krt77	T	A	15: 101,771,290 (GRCm39)	I338F	probably damaging	Het
Limch1	A	T	5: 67,131,965 (GRCm39)	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,469,234 (GRCm39)	H270L	probably benign	Het
Myrf	A	T	19: 10,196,481 (GRCm39)	L504Q	probably null	Het
Nckipsd	A	G	9: 108,691,176 (GRCm39)	Q366R	probably benign	Het
Npy5r	A	T	8: 67,134,751 (GRCm39)	V14D	probably benign	Het
Nrap	T	A	19: 56,340,031 (GRCm39)	R830*	probably null	Het
Ogfrl1	A	T	1: 23,418,070 (GRCm39)	Y103N	probably damaging	Het
Or10g7	A	T	9: 39,905,519 (GRCm39)	R138*	probably null	Het
P2rx4	T	A	5: 122,863,142 (GRCm39)	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,906,947 (GRCm39)	T71S	probably benign	Het
Paip2b	C	A	6: 83,785,867 (GRCm39)	S121I	probably damaging	Het
Ppp6c	G	T	2: 39,101,004 (GRCm39)	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,584,261 (GRCm39)	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,501,725 (GRCm39)		probably null	Het
Psd3	C	T	8: 68,172,620 (GRCm39)	A894T	probably damaging	Het
Pygm	A	T	19: 6,448,073 (GRCm39)		probably null	Het
Pzp	A	T	6: 128,468,560 (GRCm39)	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,203,373 (GRCm39)	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,740,986 (GRCm39)	F575L	probably benign	Het
Rassf6	A	G	5: 90,765,627 (GRCm39)	L28S	probably damaging	Het
Rbp3	G	T	14: 33,676,857 (GRCm39)	K268N	probably damaging	Het
Rela	C	T	19: 5,697,092 (GRCm39)	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,473,894 (GRCm39)	S102R	probably damaging	Het
Scarf2	A	G	16: 17,624,243 (GRCm39)	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,429,403 (GRCm39)	I241T	probably damaging	Het
Septin7	T	C	9: 25,199,494 (GRCm39)	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,357,570 (GRCm39)	F191L	probably damaging	Het
Siglec15	C	A	18: 78,090,590 (GRCm39)	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,295,562 (GRCm39)	T520A	probably benign	Het
Slc26a11	C	A	11: 119,270,738 (GRCm39)	F553L	probably benign	Het
Smchd1	G	A	17: 71,672,404 (GRCm39)	P1596S	possibly damaging	Het
Taar7b	A	G	10: 23,876,246 (GRCm39)	H137R	probably damaging	Het
Thap12	T	A	7: 98,365,237 (GRCm39)	C468*	probably null	Het
Timp4	C	T	6: 115,224,315 (GRCm39)	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,065,003 (GRCm39)	K48E	probably damaging	Het
Trmt10a	T	A	3: 137,862,475 (GRCm39)	I255N	probably damaging	Het
Ttll10	T	C	4: 156,133,189 (GRCm39)		probably null	Het
Tut7	T	G	13: 59,937,023 (GRCm39)	Y806S	probably damaging	Het
Ube4b	A	G	4: 149,457,389 (GRCm39)	Y283H	probably damaging	Het
Ucp1	G	T	8: 84,020,567 (GRCm39)	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596 (GRCm39)		probably benign	Het
Vps13b	T	C	15: 35,875,918 (GRCm39)	S2768P	probably damaging	Het
Zfp101	T	A	17: 33,599,936 (GRCm39)	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464 (GRCm39)	V2527M	possibly damaging	Het
Zfp503	T	A	14: 22,035,630 (GRCm39)	T429S	possibly 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
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'- CCCTTAGCCCTTAGTGCTATTAATA -3'
(R):5'- CAGAGTCTGTGGCGATGTAG -3'

Sequencing Primer
(F):5'- ATGCACAAAGCCCTGGGTTC -3'
(R):5'- ATGTAGACCGATCTGGCATTCAG -3'

Posted On

2017-06-26