Mutagenetix > Incidental Mutation

Incidental Mutation 'R2900:Fut7'

261429

Institutional Source

Beutler Lab

Gene Symbol

Fut7

Ensembl Gene

ENSMUSG00000036587

Gene Name

fucosyltransferase 7

Synonyms

FTVII, Fuc-TVII, FucT-VII

MMRRC Submission

040488-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R2900 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25313279-25316386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25313923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 33 (K33E)

Ref Sequence

ENSEMBL: ENSMUSP00000097895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041654] [ENSMUST00000100320] [ENSMUST00000102919] [ENSMUST00000114278] [ENSMUST00000134259]

AlphaFold

Q11131

Predicted Effect

probably benign
Transcript: ENSMUST00000041654

SMART Domains

Protein: ENSMUSP00000039985
Gene: ENSMUSG00000036587

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_10	10	341	5.1e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100320
AA Change: K33E

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

SMART Domains

Protein: ENSMUSP00000097895
Gene: ENSMUSG00000036587
AA Change: K33E

Domain	Start	End	E-Value	Type
transmembrane domain	59	81	N/A	INTRINSIC
Pfam:Glyco_tran_10_N	91	201	8.8e-37	PFAM
Pfam:Glyco_transf_10	216	387	6.5e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102919

SMART Domains

Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
low complexity region	119	130	N/A	INTRINSIC
low complexity region	220	237	N/A	INTRINSIC
coiled coil region	271	296	N/A	INTRINSIC
low complexity region	309	346	N/A	INTRINSIC
Pfam:ABC2_membrane_3	493	911	9.7e-18	PFAM
AAA	1015	1197	9.22e-7	SMART
low complexity region	1364	1376	N/A	INTRINSIC
low complexity region	1589	1607	N/A	INTRINSIC
Pfam:ABC2_membrane_3	1696	2008	2.3e-44	PFAM
AAA	2079	2264	1.12e-5	SMART
low complexity region	2375	2394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114278

SMART Domains

Protein: ENSMUSP00000109917
Gene: ENSMUSG00000036587

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_10	10	341	5.1e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134259

SMART Domains

Protein: ENSMUSP00000123526
Gene: ENSMUSG00000036587

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_10	9	104	2.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142156

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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 is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are superficially normal. However, abnormalities are found in immune cell function and lymph node morphology. Redeuced tumor metastasis is also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	C	T	10: 41,300,751 (GRCm39)	H1654Y	unknown	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cmtm1	A	G	8: 105,036,176 (GRCm39)	V151A	possibly damaging	Het
Coro6	A	G	11: 77,358,639 (GRCm39)	I233V	probably benign	Het
Cyp26b1	C	T	6: 84,553,623 (GRCm39)	R252H	possibly damaging	Het
Dcdc2a	C	A	13: 25,304,481 (GRCm39)	D351E	probably benign	Het
Flnc	T	C	6: 29,448,584 (GRCm39)	F1274S	probably damaging	Het
Gpsm1	G	T	2: 26,235,174 (GRCm39)	V480L	probably benign	Het
Hoxc9	A	T	15: 102,890,185 (GRCm39)	H34L	probably benign	Het
Ighv1-4	A	G	12: 114,450,788 (GRCm39)	S107P	probably benign	Het
Itsn2	T	C	12: 4,680,713 (GRCm39)		probably benign	Het
Kcnma1	T	C	14: 23,853,228 (GRCm39)	T109A	probably damaging	Het
Med18	G	A	4: 132,187,128 (GRCm39)	R124C	probably damaging	Het
Ms4a6d	C	T	19: 11,567,508 (GRCm39)	G23D	probably damaging	Het
Pan2	T	A	10: 128,144,211 (GRCm39)	D135E	probably benign	Het
Pdlim1	C	T	19: 40,211,519 (GRCm39)	C258Y	probably damaging	Het
Ppp6r2	C	A	15: 89,166,198 (GRCm39)	P734H	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Stat5a	G	A	11: 100,764,957 (GRCm39)	V227M	probably benign	Het
Strip2	A	T	6: 29,939,034 (GRCm39)		probably null	Het
Syn2	C	T	6: 115,214,295 (GRCm39)	T173I	possibly damaging	Het
Thbd	C	A	2: 148,248,134 (GRCm39)	*578L	probably null	Het
Tnfrsf11a	T	C	1: 105,754,786 (GRCm39)	I286T	probably benign	Het
Zfp566	T	C	7: 29,777,668 (GRCm39)	D171G	possibly damaging	Het
Zfp938	T	C	10: 82,061,340 (GRCm39)	R427G	possibly damaging	Het

Other mutations in Fut7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Fut7	APN	2	25,315,343 (GRCm39)	nonsense	probably null
IGL02483:Fut7	APN	2	25,313,888 (GRCm39)	missense	possibly damaging	0.47
IGL02967:Fut7	APN	2	25,315,155 (GRCm39)	missense	probably damaging	1.00
IGL03180:Fut7	APN	2	25,315,465 (GRCm39)	missense	possibly damaging	0.79
R1524:Fut7	UTSW	2	25,315,159 (GRCm39)	missense	probably damaging	1.00
R1968:Fut7	UTSW	2	25,315,738 (GRCm39)	missense	probably benign	0.16
R2115:Fut7	UTSW	2	25,315,343 (GRCm39)	nonsense	probably null
R4448:Fut7	UTSW	2	25,314,951 (GRCm39)	missense	probably benign	0.06
R7019:Fut7	UTSW	2	25,315,792 (GRCm39)	missense	probably benign	0.00
R9222:Fut7	UTSW	2	25,315,191 (GRCm39)	missense	possibly damaging	0.81
R9349:Fut7	UTSW	2	25,314,993 (GRCm39)	missense	possibly damaging	0.73
R9648:Fut7	UTSW	2	25,315,336 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGAGAGGAACCTTGGCTAC -3'
(R):5'- TCACAGTCTGATGGAGCGTC -3'

Sequencing Primer
(F):5'- GCTATAGCTTTGCCCACCAGAG -3'
(R):5'- TCAGCACTTGCCCTGAAG -3'

Posted On

2015-01-23