Mutagenetix > Incidental Mutation

Incidental Mutation 'R4722:Fut9'

354522

Institutional Source

Beutler Lab

Gene Symbol

Fut9

Ensembl Gene

ENSMUSG00000055373

Gene Name

fucosyltransferase 9

Synonyms

mFuc-TIX, mFUT9

MMRRC Submission

041987-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4722 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

25609332-25800244 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 25799734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084770] [ENSMUST00000108199]

AlphaFold

O88819

Predicted Effect

probably benign
Transcript: ENSMUST00000084770

SMART Domains

Protein: ENSMUSP00000081826
Gene: ENSMUSG00000055373

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_10	6	358	2.9e-140	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108199

SMART Domains

Protein: ENSMUSP00000103834
Gene: ENSMUSG00000055373

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tran_10_N	61	169	1.4e-43	PFAM
Pfam:Glyco_transf_10	185	357	4.8e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149875

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased number of neuronal stem cells with increased self-renewal capacity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	T	12: 55,061,137	D92E	probably benign	Het
Abca17	A	G	17: 24,265,429	F1620L	probably damaging	Het
Abcf1	T	C	17: 35,958,041		probably benign	Het
Adtrp	T	C	13: 41,767,347	H248R	probably benign	Het
Aldh1b1	T	G	4: 45,803,472	F337V	probably damaging	Het
Amz2	C	T	11: 109,434,631	L272F	probably damaging	Het
Asic2	A	T	11: 81,968,183	M1K	probably null	Het
Avpr1a	T	A	10: 122,449,001	V66E	possibly damaging	Het
AW554918	C	A	18: 25,174,715	Y28*	probably null	Het
Ccdc130	A	T	8: 84,258,810	C277S	probably benign	Het
Cdc25b	C	T	2: 131,193,351	P343L	probably damaging	Het
Chd7	T	A	4: 8,822,445	I846K	probably damaging	Het
Dnajc13	A	T	9: 104,213,818	M688K	probably benign	Het
Dock2	T	A	11: 34,695,471	I505F	probably damaging	Het
Dpy19l4	A	G	4: 11,290,521	V290A	possibly damaging	Het
Dtl	G	T	1: 191,556,841	Q254K	possibly damaging	Het
Enpp2	T	G	15: 54,887,589	K265T	probably damaging	Het
Epm2aip1	TGTCGCCG	TG	9: 111,272,084		probably benign	Het
Fam133b	T	A	5: 3,543,949		probably null	Het
Fuom	A	G	7: 140,099,567		probably benign	Het
Gas8	T	A	8: 123,525,635	I171N	possibly damaging	Het
Gipc3	T	G	10: 81,341,295	D147A	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm5591	T	C	7: 38,519,148	K767R	probably damaging	Het
Kctd8	G	A	5: 69,341,201	P34L	possibly damaging	Het
Kmt2b	G	A	7: 30,583,202	R403C	probably damaging	Het
Krt84	A	T	15: 101,528,411	I396N	probably damaging	Het
Lrrk2	C	A	15: 91,688,901	F217L	probably damaging	Het
Med27	T	A	2: 29,524,435	D290E	probably damaging	Het
Mical3	T	C	6: 121,038,525	Q184R	probably benign	Het
Mlxip	A	T	5: 123,447,202	K591M	probably benign	Het
Mutyh	T	A	4: 116,816,872	L233H	probably damaging	Het
Naip6	G	T	13: 100,307,072	H253N	possibly damaging	Het
Nynrin	A	G	14: 55,854,395	E56G	probably damaging	Het
Oip5	C	T	2: 119,613,011		probably null	Het
Olfr1199	T	G	2: 88,756,012	H221P	possibly damaging	Het
Olfr1211	T	C	2: 88,929,980	I112V	possibly damaging	Het
Olfr1335	T	C	4: 118,808,949	N305S	probably damaging	Het
Olfr17	T	A	7: 107,097,570	I35N	possibly damaging	Het
Olfr485	T	A	7: 108,159,238	I212F	probably benign	Het
Oxr1	T	C	15: 41,813,649	S132P	probably damaging	Het
Pcdhac1	C	T	18: 37,091,880	T582I	probably damaging	Het
Prl7a2	A	G	13: 27,660,875	I176T	probably damaging	Het
Rabgap1l	T	C	1: 160,342,164	T30A	possibly damaging	Het
Rapgef2	A	G	3: 79,069,173	M1294T	probably benign	Het
Rbm22	G	A	18: 60,564,391	R56H	probably damaging	Het
Rnmt	T	A	18: 68,305,881	N20K	probably damaging	Het
Scn7a	T	A	2: 66,700,884	T550S	possibly damaging	Het
Shank1	T	A	7: 44,313,214	Y117*	probably null	Het
Skint5	T	A	4: 113,893,855	K331I	unknown	Het
Slc5a1	A	G	5: 33,146,711	Y290C	possibly damaging	Het
Slfn14	T	C	11: 83,283,418	E249G	probably benign	Het
Smarcal1	T	C	1: 72,611,337	S544P	probably damaging	Het
St6galnac3	A	T	3: 153,411,529	Y186N	probably damaging	Het
Tbc1d1	T	C	5: 64,263,557	F346S	probably damaging	Het
Tdrd5	A	T	1: 156,302,375	I75K	probably benign	Het
Tnrc6a	T	C	7: 123,192,090	M1737T	possibly damaging	Het
Toe1	A	T	4: 116,805,200	Y283N	probably damaging	Het
Tubal3	G	T	13: 3,928,185	G34C	probably damaging	Het
Uxs1	A	G	1: 43,774,846	L77P	probably damaging	Het
Vmn1r212	T	C	13: 22,883,908	Y85C	probably damaging	Het
Zdhhc4	A	G	5: 143,321,781	S162P	probably damaging	Het
Zfp712	A	G	13: 67,042,113	S117P	probably benign	Het
Zic4	G	T	9: 91,379,204	G164C	probably damaging	Het

Other mutations in Fut9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Fut9	APN	4	25620316	missense	possibly damaging	0.71
IGL01134:Fut9	APN	4	25620446	missense	probably benign	0.13
IGL01330:Fut9	APN	4	25619791	missense	possibly damaging	0.95
IGL01732:Fut9	APN	4	25619867	missense	possibly damaging	0.58
IGL02824:Fut9	APN	4	25620037	missense	probably damaging	1.00
ANU74:Fut9	UTSW	4	25620802	missense	probably benign	0.25
R0280:Fut9	UTSW	4	25619852	missense	probably benign	0.00
R0408:Fut9	UTSW	4	25620319	missense	possibly damaging	0.69
R0594:Fut9	UTSW	4	25620526	missense	possibly damaging	0.94
R0609:Fut9	UTSW	4	25620811	start codon destroyed	probably null	0.98
R0709:Fut9	UTSW	4	25620359	missense	probably damaging	1.00
R1567:Fut9	UTSW	4	25620344	missense	probably damaging	0.99
R1719:Fut9	UTSW	4	25619744	missense	possibly damaging	0.62
R1856:Fut9	UTSW	4	25620352	missense	probably damaging	1.00
R2036:Fut9	UTSW	4	25620322	missense	probably damaging	1.00
R2165:Fut9	UTSW	4	25619733	makesense	probably null
R2165:Fut9	UTSW	4	25619734	makesense	probably null
R2332:Fut9	UTSW	4	25619823	nonsense	probably null
R4539:Fut9	UTSW	4	25619793	missense	probably damaging	1.00
R4766:Fut9	UTSW	4	25799191	intron	probably benign
R4937:Fut9	UTSW	4	25799591	splice site	probably benign
R5025:Fut9	UTSW	4	25620502	missense	probably damaging	1.00
R5032:Fut9	UTSW	4	25799245	intron	probably benign
R5158:Fut9	UTSW	4	25620731	missense	probably benign	0.01
R5601:Fut9	UTSW	4	25620299	missense	probably benign	0.00
R5974:Fut9	UTSW	4	25620090	nonsense	probably null
R6315:Fut9	UTSW	4	25619774	missense	probably damaging	1.00
R6385:Fut9	UTSW	4	25620328	missense	probably damaging	1.00
R6652:Fut9	UTSW	4	25620619	missense	probably benign	0.44
R6809:Fut9	UTSW	4	25620647	missense	probably benign
R6825:Fut9	UTSW	4	25619925	missense	probably benign
R7145:Fut9	UTSW	4	25620507	missense	probably damaging	0.96
R7573:Fut9	UTSW	4	25620691	missense	probably benign	0.04
R8933:Fut9	UTSW	4	25619861	missense	probably damaging	1.00
R9715:Fut9	UTSW	4	25620679	missense	probably benign	0.00
X0057:Fut9	UTSW	4	25799686	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTAACGATGTACGGTGGGC -3'
(R):5'- CCCACAGGCTCATTTTGGAG -3'

Sequencing Primer
(F):5'- GCTCAGTCCTGTGCCTGAC -3'
(R):5'- AACCTGTACCCGGCTGCTATG -3'

Posted On

2015-10-21