Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Fut9'

586137

Institutional Source

Beutler Lab

Gene Symbol

Fut9

Ensembl Gene

ENSMUSG00000055373

Gene Name

fucosyltransferase 9

Synonyms

mFUT9, mFuc-TIX

MMRRC Submission

045659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25609333-25800003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25620691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 41 (M41K)

Ref Sequence

ENSEMBL: ENSMUSP00000081826 (fasta)

Gene Model

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

AlphaFold

O88819

Predicted Effect

probably benign
Transcript: ENSMUST00000084770
AA Change: M41K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000081826
Gene: ENSMUSG00000055373
AA Change: M41K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108199
AA Change: M41K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103834
Gene: ENSMUSG00000055373
AA Change: M41K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,366,917 (GRCm39)	I49F		Het
1810055G02Rik	T	A	19: 3,765,728 (GRCm39)	M1K	probably null	Het
Abcb1b	G	A	5: 8,878,866 (GRCm39)	C750Y	possibly damaging	Het
Abi2	T	A	1: 60,509,867 (GRCm39)	V412D	probably benign	Het
Alk	C	T	17: 72,207,787 (GRCm39)	V983M	probably damaging	Het
Alppl2	A	T	1: 87,015,953 (GRCm39)	W266R	possibly damaging	Het
Arhgef18	A	G	8: 3,434,918 (GRCm39)	R188G	probably damaging	Het
Atp2c2	A	T	8: 120,478,008 (GRCm39)	D695V	probably damaging	Het
B3gnt4	A	T	5: 123,648,718 (GRCm39)	I28L	probably benign	Het
C2cd3	A	G	7: 100,068,914 (GRCm39)	D536G		Het
Cacna1c	A	G	6: 118,581,406 (GRCm39)	S1733P		Het
Cacna1e	T	C	1: 154,601,911 (GRCm39)		probably benign	Het
Capns1	A	G	7: 29,891,960 (GRCm39)	F101L	probably damaging	Het
Ccdc180	A	G	4: 45,922,015 (GRCm39)	T1030A	probably benign	Het
Cdh23	T	C	10: 60,159,329 (GRCm39)	T2151A	probably benign	Het
Cenpe	T	A	3: 134,953,220 (GRCm39)	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,667,520 (GRCm39)	H521R	probably benign	Het
Crygs	T	A	16: 22,624,069 (GRCm39)	*179C	probably null	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cul9	T	C	17: 46,830,836 (GRCm39)	T1686A	probably benign	Het
Cutc	T	C	19: 43,748,382 (GRCm39)	V95A	probably benign	Het
Cxcl3	A	G	5: 90,934,105 (GRCm39)	T26A	probably benign	Het
Dnah9	A	G	11: 66,016,041 (GRCm39)	V400A	probably benign	Het
Dysf	A	T	6: 84,107,104 (GRCm39)	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,343,667 (GRCm39)	E55K	probably benign	Het
Fam151a	A	G	4: 106,600,502 (GRCm39)	D179G	probably damaging	Het
Fam178b	T	C	1: 36,671,533 (GRCm39)	D196G	probably damaging	Het
Gm9195	T	C	14: 72,694,122 (GRCm39)	Q1531R	probably null	Het
Gpr6	A	T	10: 40,946,868 (GRCm39)	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,140,283 (GRCm39)	S234R	probably benign	Het
Itga4	A	G	2: 79,103,337 (GRCm39)	T143A	probably benign	Het
Kcnq2	A	G	2: 180,723,382 (GRCm39)	S693P	probably benign	Het
Kif13b	A	G	14: 65,041,107 (GRCm39)	I1732V	probably benign	Het
Klhl14	A	G	18: 21,785,211 (GRCm39)	V72A	probably benign	Het
Krt1c	T	A	15: 101,722,954 (GRCm39)	D348V	probably benign	Het
Map4k2	A	T	19: 6,394,094 (GRCm39)	E300D	probably benign	Het
Mars1	A	G	10: 127,138,679 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,403 (GRCm39)	D354G	probably benign	Het
Mrpl15	T	C	1: 4,847,778 (GRCm39)	T174A	probably damaging	Het
Myom2	G	A	8: 15,172,450 (GRCm39)	C1183Y	probably damaging	Het
Nfkb2	C	A	19: 46,297,082 (GRCm39)	Q336K	possibly damaging	Het
Nlrp2	A	G	7: 5,320,468 (GRCm39)		probably null	Het
Nlrp9b	T	C	7: 19,753,125 (GRCm39)	L10P	probably damaging	Het
Nrip2	A	G	6: 128,377,232 (GRCm39)	S53G	probably benign	Het
Or13a22	G	A	7: 140,072,912 (GRCm39)	M120I	probably damaging	Het
Or4k36	T	C	2: 111,146,277 (GRCm39)	I151T	probably benign	Het
Or52a5b	A	G	7: 103,416,677 (GRCm39)	M309T	probably benign	Het
Or52z13	C	T	7: 103,246,735 (GRCm39)	L71F	probably benign	Het
Or8b54	A	T	9: 38,686,791 (GRCm39)	K80I	probably damaging	Het
Or8g18	C	T	9: 39,148,977 (GRCm39)	V248I	probably benign	Het
Pak5	A	G	2: 135,958,225 (GRCm39)	S288P	probably damaging	Het
Pjvk	T	C	2: 76,487,809 (GRCm39)	F234L	probably benign	Het
Plekhm2	T	C	4: 141,358,658 (GRCm39)	N616D	probably benign	Het
Pnkp	C	T	7: 44,506,852 (GRCm39)	R9C	probably damaging	Het
Prom1	A	G	5: 44,213,272 (GRCm39)	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,014,579 (GRCm39)	W1243R	probably benign	Het
Rad17	C	T	13: 100,765,974 (GRCm39)	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rnf213	T	C	11: 119,349,310 (GRCm39)	C3804R		Het
Ros1	T	A	10: 52,046,072 (GRCm39)	T153S	probably benign	Het
Sema4g	T	C	19: 44,986,010 (GRCm39)	S284P	probably damaging	Het
Septin9	C	T	11: 117,090,571 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,574,569 (GRCm39)	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,398,256 (GRCm39)	F674L	probably benign	Het
Slfn5	A	T	11: 82,849,585 (GRCm39)	K361N	probably damaging	Het
Smad6	A	G	9: 63,929,052 (GRCm39)	L88S	unknown	Het
Smarca4	T	A	9: 21,550,371 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,735,240 (GRCm39)	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,141,234 (GRCm39)	Q1166*	probably null	Het
Stap1	A	G	5: 86,238,854 (GRCm39)	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,724,138 (GRCm39)	A69G	possibly damaging	Het
Tmc1	C	A	19: 20,884,372 (GRCm39)	D23Y	probably damaging	Het
Tmf1	A	T	6: 97,135,455 (GRCm39)	D940E	probably benign	Het
Trim27	T	A	13: 21,364,770 (GRCm39)	C36S	probably damaging	Het
Unc80	G	A	1: 66,560,696 (GRCm39)	G808D	probably damaging	Het
Usp17ld	G	T	7: 102,900,094 (GRCm39)	Y279*	probably null	Het
Usp40	G	A	1: 87,913,794 (GRCm39)	A433V	probably benign	Het
Vmn1r49	G	A	6: 90,049,843 (GRCm39)	A53V	probably benign	Het
Vmn1r84	T	C	7: 12,095,787 (GRCm39)	N302S	probably benign	Het
Wfdc2	A	T	2: 164,407,741 (GRCm39)	I137L	probably benign	Het

Other mutations in Fut9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Fut9	APN	4	25,620,316 (GRCm39)	missense	possibly damaging	0.71
IGL01134:Fut9	APN	4	25,620,446 (GRCm39)	missense	probably benign	0.13
IGL01330:Fut9	APN	4	25,619,791 (GRCm39)	missense	possibly damaging	0.95
IGL01732:Fut9	APN	4	25,619,867 (GRCm39)	missense	possibly damaging	0.58
IGL02824:Fut9	APN	4	25,620,037 (GRCm39)	missense	probably damaging	1.00
ANU74:Fut9	UTSW	4	25,620,802 (GRCm39)	missense	probably benign	0.25
R0280:Fut9	UTSW	4	25,619,852 (GRCm39)	missense	probably benign	0.00
R0408:Fut9	UTSW	4	25,620,319 (GRCm39)	missense	possibly damaging	0.69
R0594:Fut9	UTSW	4	25,620,526 (GRCm39)	missense	possibly damaging	0.94
R0609:Fut9	UTSW	4	25,620,811 (GRCm39)	start codon destroyed	probably null	0.98
R0709:Fut9	UTSW	4	25,620,359 (GRCm39)	missense	probably damaging	1.00
R1567:Fut9	UTSW	4	25,620,344 (GRCm39)	missense	probably damaging	0.99
R1719:Fut9	UTSW	4	25,619,744 (GRCm39)	missense	possibly damaging	0.62
R1856:Fut9	UTSW	4	25,620,352 (GRCm39)	missense	probably damaging	1.00
R2036:Fut9	UTSW	4	25,620,322 (GRCm39)	missense	probably damaging	1.00
R2165:Fut9	UTSW	4	25,619,734 (GRCm39)	makesense	probably null
R2165:Fut9	UTSW	4	25,619,733 (GRCm39)	makesense	probably null
R2332:Fut9	UTSW	4	25,619,823 (GRCm39)	nonsense	probably null
R4539:Fut9	UTSW	4	25,619,793 (GRCm39)	missense	probably damaging	1.00
R4722:Fut9	UTSW	4	25,799,734 (GRCm39)	utr 5 prime	probably benign
R4766:Fut9	UTSW	4	25,799,191 (GRCm39)	intron	probably benign
R4937:Fut9	UTSW	4	25,799,591 (GRCm39)	splice site	probably benign
R5025:Fut9	UTSW	4	25,620,502 (GRCm39)	missense	probably damaging	1.00
R5032:Fut9	UTSW	4	25,799,245 (GRCm39)	intron	probably benign
R5158:Fut9	UTSW	4	25,620,731 (GRCm39)	missense	probably benign	0.01
R5601:Fut9	UTSW	4	25,620,299 (GRCm39)	missense	probably benign	0.00
R5974:Fut9	UTSW	4	25,620,090 (GRCm39)	nonsense	probably null
R6315:Fut9	UTSW	4	25,619,774 (GRCm39)	missense	probably damaging	1.00
R6385:Fut9	UTSW	4	25,620,328 (GRCm39)	missense	probably damaging	1.00
R6652:Fut9	UTSW	4	25,620,619 (GRCm39)	missense	probably benign	0.44
R6809:Fut9	UTSW	4	25,620,647 (GRCm39)	missense	probably benign
R6825:Fut9	UTSW	4	25,619,925 (GRCm39)	missense	probably benign
R7145:Fut9	UTSW	4	25,620,507 (GRCm39)	missense	probably damaging	0.96
R8933:Fut9	UTSW	4	25,619,861 (GRCm39)	missense	probably damaging	1.00
R9715:Fut9	UTSW	4	25,620,679 (GRCm39)	missense	probably benign	0.00
X0057:Fut9	UTSW	4	25,799,686 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAATGAGCGGTCTGTTGTG -3'
(R):5'- CTGAAAGGGAATTAGAGTTGGTTTC -3'

Sequencing Primer
(F):5'- GAGATGGCACCCTTGGATATTGAAC -3'
(R):5'- TCCAAAGGCATTCTTCGC -3'

Posted On

2019-10-24