Mutagenetix > Incidental Mutation

Incidental Mutation 'R6809:Fut9'

533696

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 #

R6809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25609332-25800244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25620647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 56 (T56S)

Ref Sequence

ENSEMBL: ENSMUSP00000103834 (fasta)

Gene Model

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

AlphaFold

O88819

Predicted Effect

probably benign
Transcript: ENSMUST00000084770
AA Change: T56S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081826
Gene: ENSMUSG00000055373
AA Change: T56S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108199
AA Change: T56S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103834
Gene: ENSMUSG00000055373
AA Change: T56S

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

0.0709

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

96% (51/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,874,282	N61S	probably damaging	Het
A130010J15Rik	T	A	1: 193,174,781	V147E	possibly damaging	Het
Adgrv1	A	T	13: 81,472,953	M3893K	probably benign	Het
Aox3	T	C	1: 58,118,681	S66P	probably damaging	Het
Apeh	G	A	9: 108,092,679	H186Y	probably damaging	Het
Bloc1s5	A	G	13: 38,603,985	V141A	probably benign	Het
Btbd11	A	G	10: 85,631,376	T732A	probably benign	Het
Col28a1	T	C	6: 7,999,468	Y1083C	probably damaging	Het
Crb1	A	G	1: 139,243,126	V842A	probably benign	Het
Dapk1	A	G	13: 60,751,289	S858G	probably benign	Het
Dlgap2	G	T	8: 14,179,619		probably benign	Het
Dpysl4	A	G	7: 139,093,660	D199G	probably benign	Het
Eml6	C	T	11: 29,803,161	V917I	probably benign	Het
Gm6205	C	A	5: 94,683,418	Q95K	probably benign	Het
Gtdc1	G	C	2: 44,575,551	S214*	probably null	Het
Gtdc1	A	G	2: 44,825,384	F49S	probably damaging	Het
Hoxd9	A	G	2: 74,699,246	Y282C	probably damaging	Het
Hrc	A	G	7: 45,336,379	E318G	probably benign	Het
Ikzf2	T	C	1: 69,570,502	T195A	probably damaging	Het
Krt36	A	T	11: 100,105,509	S30T	probably benign	Het
Lrp1	A	G	10: 127,555,056	F2991L	probably benign	Het
Lrrc34	T	A	3: 30,634,600	Q184L	possibly damaging	Het
Mapk1	A	T	16: 17,035,462	M49L	probably benign	Het
Mroh2a	G	T	1: 88,235,216	Q360H	probably benign	Het
Mrpl48	A	G	7: 100,546,367		probably benign	Het
Ncln	A	G	10: 81,487,678		probably null	Het
Nol4	T	A	18: 22,920,825	Q96L	probably damaging	Het
Olfr1002	G	A	2: 85,647,973	A116V	probably damaging	Het
Olfr1391	G	T	11: 49,327,860	V150L	probably benign	Het
Padi2	A	G	4: 140,946,766		probably null	Het
Pak7	T	G	2: 136,097,581	I545L	possibly damaging	Het
Paqr5	T	A	9: 61,968,782	R157W	probably null	Het
Pard3b	G	A	1: 62,161,181	R293H	probably damaging	Het
Phf11d	C	A	14: 59,356,395	C110F	probably damaging	Het
Pkn2	G	A	3: 142,799,004	P804S	probably damaging	Het
Pnpla6	G	A	8: 3,534,611	C743Y	possibly damaging	Het
Pramef17	A	G	4: 143,993,081	V238A	probably benign	Het
Psip1	A	G	4: 83,468,642	M164T	probably benign	Het
Rgs22	C	G	15: 36,048,764	S914T	probably damaging	Het
Rufy4	G	A	1: 74,133,047	V310I	probably benign	Het
Ryr2	G	A	13: 11,726,930	L2122F	probably damaging	Het
Sgcb	T	G	5: 73,640,693	N142T	probably benign	Het
Slc27a6	A	G	18: 58,605,054	E394G	probably benign	Het
Slc29a2	T	C	19: 5,029,243	V298A	probably damaging	Het
Slf2	C	A	19: 44,943,468	T654N	probably damaging	Het
Spata4	A	C	8: 54,602,333	K123Q	possibly damaging	Het
Taar7b	T	C	10: 24,000,858	V307A	probably benign	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ttn	T	C	2: 76,863,639	E295G	possibly damaging	Het
Ubqln4	A	T	3: 88,555,372	Q48L	possibly damaging	Het
Ugt1a10	T	A	1: 88,055,925	D148E	probably damaging	Het
Vmn2r85	T	A	10: 130,425,926	N181Y	probably benign	Het
Wdfy3	C	T	5: 101,923,947	V1026I	possibly 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
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
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'- TCTATGGTGAATCAGGACCGC -3'
(R):5'- CTGAAAGGGAATTAGAGTTGGTTTC -3'

Sequencing Primer
(F):5'- ATCAGGACCGCATGGGATTTG -3'
(R):5'- CTCTCTTCCCCAGGAAAAATTATG -3'

Posted On

2018-09-12