Mutagenetix > Incidental Mutation

Incidental Mutation 'R5974:Fut9'

471599

Institutional Source

Beutler Lab

Gene Symbol

Fut9

Ensembl Gene

ENSMUSG00000055373

Gene Name

fucosyltransferase 9

Synonyms

mFUT9, mFuc-TIX

MMRRC Submission

044157-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25609333-25800003 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 25620090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 241 (Y241*)

Ref Sequence

ENSEMBL: ENSMUSP00000103834 (fasta)

Gene Model

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

AlphaFold

O88819

Predicted Effect

probably null
Transcript: ENSMUST00000084770
AA Change: Y241*

SMART Domains

Protein: ENSMUSP00000081826
Gene: ENSMUSG00000055373
AA Change: Y241*

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

Predicted Effect

probably null
Transcript: ENSMUST00000108199
AA Change: Y241*

SMART Domains

Protein: ENSMUSP00000103834
Gene: ENSMUSG00000055373
AA Change: Y241*

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc4	T	C	5: 53,002,742 (GRCm39)	L261P	probably damaging	Het
Aqp6	A	G	15: 99,499,317 (GRCm39)	Y10C	probably benign	Het
Ccnb1ip1	A	T	14: 51,029,662 (GRCm39)	N133K	probably benign	Het
Clip4	A	T	17: 72,138,242 (GRCm39)	H433L	probably damaging	Het
Cntnap5c	T	A	17: 58,183,480 (GRCm39)	M62K	probably benign	Het
Col12a1	A	G	9: 79,589,409 (GRCm39)	S1049P	probably damaging	Het
Col15a1	C	T	4: 47,258,683 (GRCm39)	T358I	probably benign	Het
Coro7	A	T	16: 4,449,753 (GRCm39)	D645E	possibly damaging	Het
Ctnnal1	C	A	4: 56,817,067 (GRCm39)	W585L	probably damaging	Het
Ctnnd1	C	A	2: 84,451,259 (GRCm39)	E114*	probably null	Het
Daam2	T	A	17: 49,771,501 (GRCm39)	S882C	probably damaging	Het
Des	T	A	1: 75,339,628 (GRCm39)	S329T	probably benign	Het
Dido1	T	C	2: 180,313,290 (GRCm39)	D994G	probably benign	Het
Dock3	A	G	9: 106,871,261 (GRCm39)	V547A	probably damaging	Het
Ebf4	G	A	2: 130,207,484 (GRCm39)	A643T	probably damaging	Het
Ect2	C	A	3: 27,199,112 (GRCm39)	E194*	probably null	Het
Epb41l2	A	G	10: 25,317,713 (GRCm39)	I77V	possibly damaging	Het
Fat3	A	T	9: 15,917,824 (GRCm39)		probably null	Het
Fbn2	T	G	18: 58,181,992 (GRCm39)	D1803A	probably damaging	Het
Fbxo10	T	C	4: 45,040,631 (GRCm39)	E858G	probably benign	Het
Fbxo24	C	T	5: 137,617,912 (GRCm39)	R284Q	probably benign	Het
Fsip2	T	A	2: 82,793,657 (GRCm39)	I425N	possibly damaging	Het
Galr2	A	G	11: 116,173,852 (GRCm39)	S161G	possibly damaging	Het
Gcc2	T	A	10: 58,094,065 (GRCm39)	L14I	probably damaging	Het
H2-T15	A	T	17: 36,367,677 (GRCm39)	D220E	probably benign	Het
Hdac11	G	A	6: 91,150,196 (GRCm39)	V332I	probably benign	Het
Hdac7	T	C	15: 97,699,953 (GRCm39)		probably null	Het
Kif16b	C	T	2: 142,699,301 (GRCm39)	G93D	probably damaging	Het
Krtap11-1	C	A	16: 89,367,656 (GRCm39)	C121F	possibly damaging	Het
Lacc1	T	C	14: 77,272,517 (GRCm39)	Q93R	probably damaging	Het
Lama1	T	C	17: 68,080,722 (GRCm39)	F1250S	probably benign	Het
Lmbrd2	A	G	15: 9,172,202 (GRCm39)	E332G	probably benign	Het
Lrp2	C	A	2: 69,289,892 (GRCm39)	C3649F	probably damaging	Het
Map1a	T	C	2: 121,134,857 (GRCm39)	V1653A	probably benign	Het
Mrpl1	T	C	5: 96,379,653 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Nedd4	T	A	9: 72,650,920 (GRCm39)		probably null	Het
Negr1	T	A	3: 156,774,923 (GRCm39)	V213E	probably damaging	Het
Nlk	T	G	11: 78,481,792 (GRCm39)	Q223P	probably benign	Het
Ntn5	A	G	7: 45,340,848 (GRCm39)	H162R	probably damaging	Het
Nup42	T	C	5: 24,372,400 (GRCm39)	S63P	probably damaging	Het
Obscn	C	A	11: 58,967,373 (GRCm39)	D477Y	probably damaging	Het
Or12d12	A	T	17: 37,611,229 (GRCm39)	I28N	possibly damaging	Het
Or5an1	T	C	19: 12,261,200 (GRCm39)	S263P	probably damaging	Het
Or8u10	T	C	2: 85,915,225 (GRCm39)	S299G	probably benign	Het
Pabpn1	A	G	14: 55,134,617 (GRCm39)	T280A	probably damaging	Het
Per3	A	T	4: 151,127,194 (GRCm39)	V109E	possibly damaging	Het
Pira2	A	C	7: 3,844,576 (GRCm39)	V485G	probably benign	Het
Pknox2	A	G	9: 36,847,618 (GRCm39)	L133P	probably damaging	Het
Pros1	A	C	16: 62,721,030 (GRCm39)	N195T	probably damaging	Het
Rffl	T	C	11: 82,696,977 (GRCm39)	K289E	probably damaging	Het
Ripk1	T	A	13: 34,214,084 (GRCm39)	Y475*	probably null	Het
Ryr2	A	G	13: 11,729,397 (GRCm39)		probably null	Het
Sgk1	T	A	10: 21,872,148 (GRCm39)	N241K	probably damaging	Het
Skint1	T	A	4: 111,876,516 (GRCm39)	S146T	probably benign	Het
Sox30	G	T	11: 45,871,900 (GRCm39)	D252Y	probably damaging	Het
Syngap1	A	G	17: 27,182,012 (GRCm39)	Y1002C	probably damaging	Het
Tiam2	A	G	17: 3,465,084 (GRCm39)	D271G	possibly damaging	Het
Ticam1	T	C	17: 56,578,178 (GRCm39)	T306A	probably benign	Het
Tmem252	A	G	19: 24,651,632 (GRCm39)	E67G	probably benign	Het
Tnxb	T	G	17: 34,904,681 (GRCm39)	F1149V	probably damaging	Het
Ubr4	A	G	4: 139,148,389 (GRCm39)		probably null	Het
Unc50	A	G	1: 37,476,290 (GRCm39)	D150G	probably benign	Het
Ywhag	A	C	5: 135,940,483 (GRCm39)	L37R	probably damaging	Het
Zfp296	T	C	7: 19,311,862 (GRCm39)	L123P	probably benign	Het
Zfp418	G	T	7: 7,185,199 (GRCm39)	Q387H	possibly damaging	Het
Zfp882	T	C	8: 72,666,999 (GRCm39)	F53L	probably damaging	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
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
R7573:Fut9	UTSW	4	25,620,691 (GRCm39)	missense	probably benign	0.04
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'- TGTGATTCCCAAAACCGTGG -3'
(R):5'- TGTTTGAAGTGCCAAGCAAG -3'

Sequencing Primer
(F):5'- CCGTGGTAGGTTTACAGTAAAATCC -3'
(R):5'- CAAGGAGAAGTTGGTGTGCTG -3'

Posted On

2017-03-31