Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Fut9'

235411

Institutional Source

Beutler Lab

Gene Symbol

Fut9

Ensembl Gene

ENSMUSG00000055373

Gene Name

fucosyltransferase 9

Synonyms

mFUT9, mFuc-TIX

MMRRC Submission

040168-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25609333-25800003 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 25619733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tyrosine at position 360 (*360Y)

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: *360Y

SMART Domains

Protein: ENSMUSP00000081826
Gene: ENSMUSG00000055373
AA Change: *360Y

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

Predicted Effect

probably null
Transcript: ENSMUST00000108199
AA Change: *360Y

SMART Domains

Protein: ENSMUSP00000103834
Gene: ENSMUSG00000055373
AA Change: *360Y

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

0.8472

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,906,048 (GRCm39)	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,726,338 (GRCm39)	L403R	probably damaging	Het
Alox12	A	T	11: 70,133,398 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,763,210 (GRCm39)	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,597,935 (GRCm39)	Y1268D	probably damaging	Het
Bik	A	G	15: 83,425,624 (GRCm39)	M42V	probably benign	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Bub1	T	C	2: 127,643,201 (GRCm39)	I1048V	probably benign	Het
Cad	A	G	5: 31,219,564 (GRCm39)	N621S	probably damaging	Het
Camkv	C	A	9: 107,822,799 (GRCm39)	N69K	possibly damaging	Het
Ccdc110	T	C	8: 46,395,876 (GRCm39)	M589T	probably benign	Het
Ccdc154	T	A	17: 25,389,864 (GRCm39)	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,777,691 (GRCm39)	L252P	probably damaging	Het
Cdh1	T	C	8: 107,390,953 (GRCm39)	C690R	probably damaging	Het
Cfap157	T	G	2: 32,668,175 (GRCm39)		probably null	Het
Cux2	A	G	5: 122,025,540 (GRCm39)	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 106,925,880 (GRCm39)	P21S	probably damaging	Het
Cyp51	T	G	5: 4,136,594 (GRCm39)	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,137,152 (GRCm39)		probably benign	Het
Efcab3	G	A	11: 104,642,688 (GRCm39)	V1104I	possibly damaging	Het
Ephb4	A	G	5: 137,352,688 (GRCm39)	I90M	probably benign	Het
Fam13c	A	G	10: 70,378,523 (GRCm39)	N269S	probably damaging	Het
Fam83c	T	A	2: 155,673,444 (GRCm39)	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,194,542 (GRCm39)	F1166L	probably benign	Het
Fem1a	A	G	17: 56,564,686 (GRCm39)	N260D	probably benign	Het
Fnbp4	T	A	2: 90,597,743 (GRCm39)		probably null	Het
Gm3727	T	A	14: 7,264,625 (GRCm38)	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Haspin	A	C	11: 73,027,456 (GRCm39)	N544K	probably damaging	Het
Havcr1	A	G	11: 46,669,379 (GRCm39)	N286S	probably benign	Het
Lrp6	A	C	6: 134,436,246 (GRCm39)	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,808,645 (GRCm39)	H294P	possibly damaging	Het
Mettl25b	A	T	3: 87,834,360 (GRCm39)		probably null	Het
Mon2	A	C	10: 122,878,269 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgprb1	T	C	7: 48,097,070 (GRCm39)	I281V	probably benign	Het
Muc4	A	G	16: 32,569,294 (GRCm39)	E118G	probably damaging	Het
Nefh	T	C	11: 4,893,872 (GRCm39)	D394G	probably damaging	Het
Neurl4	A	G	11: 69,794,047 (GRCm39)	T168A	probably benign	Het
Or10s1	A	G	9: 39,986,211 (GRCm39)	N207D	possibly damaging	Het
Or1j18	T	A	2: 36,624,713 (GRCm39)	C127S	probably damaging	Het
Or51a10	T	C	7: 103,698,845 (GRCm39)	T239A	probably benign	Het
Or5ak4	A	T	2: 85,161,446 (GRCm39)	N265K	probably benign	Het
Oxsr1	A	C	9: 119,123,498 (GRCm39)	M92R	probably damaging	Het
Pde8a	T	C	7: 80,945,516 (GRCm39)		probably null	Het
Pex5l	T	A	3: 33,007,281 (GRCm39)		probably null	Het
Pik3r4	T	A	9: 105,549,984 (GRCm39)	M1025K	probably benign	Het
Plch1	C	T	3: 63,605,903 (GRCm39)	E1325K	probably benign	Het
Plin2	A	T	4: 86,586,669 (GRCm39)	V54E	probably damaging	Het
Prss47	A	T	13: 65,192,887 (GRCm39)	I298N	probably damaging	Het
Prune2	A	G	19: 17,097,546 (GRCm39)	R1017G	probably benign	Het
Psg19	T	A	7: 18,530,911 (GRCm39)	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Serpinb1a	T	C	13: 33,034,397 (GRCm39)		probably benign	Het
Sh3pxd2a	A	T	19: 47,266,794 (GRCm39)	V265E	probably damaging	Het
Slc22a17	A	T	14: 55,146,282 (GRCm39)	Y337*	probably null	Het
Slc25a27	A	G	17: 43,968,663 (GRCm39)	V138A	probably benign	Het
Slc4a2	A	G	5: 24,636,314 (GRCm39)	Y220C	probably damaging	Het
Slc66a3	G	A	12: 17,039,840 (GRCm39)	L192F	probably damaging	Het
Stab1	A	T	14: 30,890,392 (GRCm39)	S20T	probably benign	Het
Tcstv2a	A	T	13: 120,725,633 (GRCm39)	Q99L	probably damaging	Het
Thsd1	G	T	8: 22,728,538 (GRCm39)		probably benign	Het
Tmem204	G	A	17: 25,299,566 (GRCm39)		probably benign	Het
Tom1l1	A	G	11: 90,540,721 (GRCm39)		probably benign	Het
Toporsl	T	A	4: 52,612,072 (GRCm39)	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,301,553 (GRCm39)	K852E	unknown	Het
Wdpcp	T	G	11: 21,641,884 (GRCm39)	L174R	probably damaging	Het
Zbbx	G	A	3: 75,019,414 (GRCm39)	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp600	A	T	4: 146,133,488 (GRCm39)	R719*	probably null	Het
Zfp697	C	A	3: 98,335,330 (GRCm39)	A365E	unknown	Het
Zfp957	A	C	14: 79,451,053 (GRCm39)	S249A	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
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
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'- CCAGTGCTCGTTATCACATATATAC -3'
(R):5'- CCCAGTGAGTTAGCAAAATATCTGAAG -3'

Sequencing Primer
(F):5'- ATACATGGTCCTCAAGGG -3'
(R):5'- TAGCAAAATATCTGAAGGAAGTTGAC -3'

Posted On

2014-10-01