Mutagenetix > Incidental Mutation

Incidental Mutation 'R6315:Fut9'

510579

Institutional Source

Beutler Lab

Gene Symbol

Fut9

Ensembl Gene

ENSMUSG00000055373

Gene Name

fucosyltransferase 9

Synonyms

mFuc-TIX, mFUT9

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25609332-25800244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25619774 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 347 (Y347N)

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: Y347N

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

SMART Domains

Protein: ENSMUSP00000081826
Gene: ENSMUSG00000055373
AA Change: Y347N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108199
AA Change: Y347N

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

SMART Domains

Protein: ENSMUSP00000103834
Gene: ENSMUSG00000055373
AA Change: Y347N

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

0.5698

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 120,346,092	Y464H	probably damaging	Het
Ahnak	T	C	19: 9,006,626	M1758T	probably damaging	Het
Ak9	A	T	10: 41,406,841	D1201V	possibly damaging	Het
Amdhd2	A	C	17: 24,158,356	H203Q	probably benign	Het
Ano3	A	G	2: 110,697,039	M608T	probably damaging	Het
Arhgef4	G	A	1: 34,723,477	A605T	unknown	Het
Atp1a2	C	G	1: 172,289,336	R238P	probably damaging	Het
Atp8b1	C	A	18: 64,531,479	R1206L	probably damaging	Het
B4galt5	A	T	2: 167,305,809	N215K	probably damaging	Het
Bpifa1	A	G	2: 154,146,076	K180E	possibly damaging	Het
Cadm1	C	T	9: 47,810,119	T269M	probably damaging	Het
Cadm3	T	C	1: 173,344,352	D252G	probably benign	Het
Ccdc18	A	G	5: 108,161,582	R348G	probably benign	Het
Cers4	G	A	8: 4,516,980	C94Y	probably benign	Het
Cfap58	G	A	19: 47,941,277	R59H	probably benign	Het
Col19a1	C	T	1: 24,526,452	G266D	unknown	Het
Col6a5	G	T	9: 105,881,970	F2012L	probably damaging	Het
Dnah6	T	C	6: 73,191,605	Q445R	probably benign	Het
Dsg3	A	G	18: 20,524,586	S238G	probably benign	Het
E130308A19Rik	G	A	4: 59,691,132	S322N	probably benign	Het
Eif5b	A	G	1: 38,018,033	D57G	unknown	Het
Fbn2	T	C	18: 58,054,953		probably null	Het
Fbxo38	A	T	18: 62,536,147	C77*	probably null	Het
Fgb	T	A	3: 83,045,055	Q169L	probably benign	Het
Gabrg2	T	C	11: 41,971,861	K132R	probably damaging	Het
Gpn3	C	T	5: 122,372,575		probably benign	Het
Helz2	A	G	2: 181,233,202	L1833P	probably damaging	Het
Hk3	C	T	13: 55,011,157	D484N	probably benign	Het
Icam4	T	C	9: 21,029,952	V129A	probably damaging	Het
Impdh2	T	C	9: 108,563,439	S280P	possibly damaging	Het
Impg1	C	A	9: 80,394,074	G267V	probably benign	Het
Iqgap1	C	T	7: 80,799,890	V39M	possibly damaging	Het
Lyst	A	G	13: 13,643,504	N1253S	probably benign	Het
Mgat4b	T	A	11: 50,231,764	V195E	probably damaging	Het
Mrgprb8	C	T	7: 48,389,235	T218I	probably damaging	Het
Myrfl	T	G	10: 116,822,819	E411A	possibly damaging	Het
Myt1l	T	C	12: 29,827,798	S483P	unknown	Het
Neil2	A	G	14: 63,183,471	V80A	possibly damaging	Het
Nfe2l2	G	T	2: 75,676,819	D312E	probably damaging	Het
Nin	A	T	12: 70,045,615	L640Q	probably damaging	Het
Nup205	T	A	6: 35,236,869	I1732N	probably damaging	Het
Nupl2	T	C	5: 24,167,504	S97P	probably damaging	Het
Olfr1468-ps1	T	C	19: 13,375,405	C148R	unknown	Het
Olfr180	A	C	16: 58,916,246	Y132D	probably damaging	Het
Plcb1	A	T	2: 135,346,341	T785S	probably benign	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Ppp1r1b	A	G	11: 98,355,390	E66G	probably damaging	Het
Ros1	A	T	10: 52,118,210	W1325R	probably benign	Het
Sec14l5	A	C	16: 5,180,277	E500A	possibly damaging	Het
Sirpb1c	A	G	3: 15,832,306	V302A	possibly damaging	Het
Spata19	T	C	9: 27,400,837	Y107H	possibly damaging	Het
Sv2a	G	A	3: 96,188,186	M298I	probably benign	Het
Tdrd6	A	T	17: 43,626,338	M1273K	probably benign	Het
Tectb	A	G	19: 55,191,472	H250R	possibly damaging	Het
Trip11	T	G	12: 101,885,578	E742D	possibly damaging	Het
Tslp	A	G	18: 32,817,090	T71A	probably benign	Het
Usp20	C	T	2: 31,017,758	R711C	possibly damaging	Het
Vmn1r181	G	A	7: 23,984,758	R216Q	probably benign	Het
Vmn2r8	A	T	5: 108,801,891	F363L	probably benign	Het
Vsnl1	T	A	12: 11,332,155	N75I	probably damaging	Het
Wdr55	A	T	18: 36,762,069	D96V	probably damaging	Het
Wls	T	A	3: 159,934,371		probably null	Het
Zc3h13	A	G	14: 75,308,915	D152G	probably damaging	Het
Zc3h18	A	G	8: 122,383,865	E151G	probably benign	Het
Zfat	A	G	15: 68,084,462	S1174P	probably damaging	Het
Zfyve9	T	A	4: 108,674,488	T416S	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
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
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'- CAAAATATACATGGTCCTCAAGGG -3'
(R):5'- CTGGGTCCATCTAGGGAAAACTATG -3'

Sequencing Primer
(F):5'- CTCAAGGGAGGGCAGGAAAATTAAAC -3'
(R):5'- CAGCTGATTCATTCATTCATGTGG -3'

Posted On

2018-04-02