Mutagenetix > Incidental Mutation

Incidental Mutation 'R2036:Fut9'

224602

Institutional Source

Beutler Lab

Gene Symbol

Fut9

Ensembl Gene

ENSMUSG00000055373

Gene Name

fucosyltransferase 9

Synonyms

mFuc-TIX, mFUT9

MMRRC Submission

040043-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25609332-25800244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25620322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 164 (I164T)

Ref Sequence

ENSEMBL: ENSMUSP00000103834 (fasta)

Gene Model

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

AlphaFold

O88819

Predicted Effect

probably damaging
Transcript: ENSMUST00000084770
AA Change: I164T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081826
Gene: ENSMUSG00000055373
AA Change: I164T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108199
AA Change: I164T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103834
Gene: ENSMUSG00000055373
AA Change: I164T

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

Meta Mutation Damage Score

0.8803

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,743,254	D1029G	probably damaging	Het
4930415H17Rik	C	T	11: 99,685,532	C3Y	unknown	Het
Abr	G	T	11: 76,452,350	T547K	probably benign	Het
Akr1c21	T	C	13: 4,576,306	Y110H	probably damaging	Het
Ankar	T	A	1: 72,666,530	K556*	probably null	Het
Anks1b	T	C	10: 90,969,853	V431A	probably damaging	Het
Ap5b1	T	C	19: 5,568,869	S106P	possibly damaging	Het
Arhgap17	T	C	7: 123,318,494	N156D	possibly damaging	Het
Arhgap35	T	C	7: 16,563,133	E669G	probably damaging	Het
Arhgap44	T	C	11: 65,041,492	M201V	possibly damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atg4c	C	T	4: 99,218,139	T112M	possibly damaging	Het
Bcl11a	A	T	11: 24,164,087	N477Y	possibly damaging	Het
Brinp3	A	T	1: 146,701,841	I205F	possibly damaging	Het
Capza2	T	C	6: 17,660,778	F159S	probably damaging	Het
Cd40	T	C	2: 165,062,301	C61R	probably benign	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Cdh23	A	G	10: 60,466,043	I415T	possibly damaging	Het
Clnk	A	T	5: 38,752,800		probably null	Het
Ctcfl	C	T	2: 173,101,985	R524Q	possibly damaging	Het
Cyb5r4	T	G	9: 87,042,879		probably benign	Het
Ddb1	T	A	19: 10,610,822		probably benign	Het
Ddx51	C	A	5: 110,656,625	Q526K	probably benign	Het
Dennd6a	A	T	14: 26,608,119	Q56L	probably damaging	Het
Dhdds	T	C	4: 133,971,099	E142G	probably damaging	Het
Dnaic1	A	G	4: 41,632,225	H553R	probably damaging	Het
Fryl	T	C	5: 73,022,544	N2908S	probably benign	Het
Fryl	C	A	5: 73,107,962		probably null	Het
Gba2	G	A	4: 43,568,118		probably benign	Het
Gm11627	C	T	11: 102,576,754	V33I	unknown	Het
Helz2	T	A	2: 181,237,479	H782L	probably benign	Het
Kcnmb3	A	G	3: 32,472,382	V220A	probably damaging	Het
Kif20a	T	C	18: 34,628,462	S303P	possibly damaging	Het
Kif22	A	T	7: 127,030,954	V470E	possibly damaging	Het
Majin	C	T	19: 6,213,312	T132M	probably benign	Het
Mboat7	A	G	7: 3,685,672		probably null	Het
Mkrn2	C	A	6: 115,611,914	P206Q	probably benign	Het
Mphosph9	G	A	5: 124,304,211	T358M	probably damaging	Het
Nkd1	A	G	8: 88,591,677	D210G	probably damaging	Het
Olfr1215	C	T	2: 89,001,632	V219I	probably damaging	Het
Olfr1287	T	A	2: 111,449,626	L162Q	possibly damaging	Het
Olfr1411	A	T	1: 92,596,606	E29V	probably benign	Het
Olfr1443	G	C	19: 12,680,801	G231A	probably damaging	Het
Olfr291	G	T	7: 84,856,358		probably benign	Het
Olfr494	T	A	7: 108,367,740	N83K	probably benign	Het
Olfr781	G	A	10: 129,333,672	D264N	probably benign	Het
Pi4ka	A	G	16: 17,303,112	Y63H	probably damaging	Het
Plekha1	A	G	7: 130,902,192	R210G	probably damaging	Het
Ppp2r2c	C	T	5: 36,952,404	T369I	possibly damaging	Het
Rmnd1	T	C	10: 4,407,884	D12G	probably damaging	Het
Rtn2	A	G	7: 19,293,739	K120E	probably damaging	Het
Sh3tc1	A	G	5: 35,716,164	S30P	probably benign	Het
Tln2	T	C	9: 67,272,704	E795G	possibly damaging	Het
Tmprss11d	T	A	5: 86,309,269	Y177F	probably damaging	Het
Trrap	C	A	5: 144,828,562	D2529E	probably benign	Het
Vmn2r58	A	G	7: 41,863,993	Y409H	probably benign	Het
Wdr72	T	A	9: 74,151,594	V323D	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
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
R4722:Fut9	UTSW	4	25799734	utr 5 prime	probably benign
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'- ACGTATTCTCCGAATGCTTGGC -3'
(R):5'- TCACAACAGACCGCTCATTG -3'

Sequencing Primer
(F):5'- TCCGAATGCTTGGCCATAG -3'
(R):5'- AAATCCCATGCGGTCCTG -3'

Posted On

2014-08-25