Mutagenetix > Incidental Mutation

Incidental Mutation 'R9222:Fut7'

699507

Institutional Source

Beutler Lab

Gene Symbol

Fut7

Ensembl Gene

ENSMUSG00000036587

Gene Name

fucosyltransferase 7

Synonyms

FTVII, Fuc-TVII, FucT-VII

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9222 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25313279-25316386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25315191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 150 (S150P)

Ref Sequence

ENSEMBL: ENSMUSP00000097895 (fasta)

Gene Model

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

AlphaFold

Q11131

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041654
AA Change: S103P

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039985
Gene: ENSMUSG00000036587
AA Change: S103P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100320
AA Change: S150P

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097895
Gene: ENSMUSG00000036587
AA Change: S150P

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

possibly damaging
Transcript: ENSMUST00000114278
AA Change: S103P

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109917
Gene: ENSMUSG00000036587
AA Change: S103P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134259
AA Change: S103P

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123526
Gene: ENSMUSG00000036587
AA Change: S103P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	C	A	5: 138,560,562 (GRCm39)	V278F	unknown	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Actr5	T	A	2: 158,473,423 (GRCm39)	N272K	probably damaging	Het
Afg3l2	T	C	18: 67,567,257 (GRCm39)	T198A	probably benign	Het
Aloxe3	A	G	11: 69,023,903 (GRCm39)	Y278C	probably damaging	Het
Apobec3	A	G	15: 79,783,270 (GRCm39)	I226V		Het
Arap2	T	A	5: 62,828,421 (GRCm39)	T917S	possibly damaging	Het
Arhgap40	T	C	2: 158,388,692 (GRCm39)	L545P	probably damaging	Het
Atp13a5	A	T	16: 29,133,472 (GRCm39)	L438H	probably damaging	Het
Ccdc191	T	A	16: 43,725,831 (GRCm39)	Y105N	probably damaging	Het
Ccdc7a	A	T	8: 129,525,610 (GRCm39)	F1406L	unknown	Het
Celsr1	A	G	15: 85,815,471 (GRCm39)	V1848A	possibly damaging	Het
Chn1	T	A	2: 73,443,499 (GRCm39)	N417I	probably damaging	Het
Cmya5	T	C	13: 93,230,579 (GRCm39)	K1503R	probably benign	Het
Cryz	T	C	3: 154,317,203 (GRCm39)	F141L	probably benign	Het
Dmac2l	T	C	12: 69,788,554 (GRCm39)	V151A	probably damaging	Het
Dpep2	T	A	8: 106,723,016 (GRCm39)	H13L		Het
Eif2b5	C	T	16: 20,321,382 (GRCm39)	R312*	probably null	Het
Evc	A	T	5: 37,477,650 (GRCm39)	M343K	probably benign	Het
Fbxw17	T	A	13: 50,577,367 (GRCm39)	D86E	probably damaging	Het
Fbxw9	T	A	8: 85,788,856 (GRCm39)	L202Q	probably damaging	Het
Fkbp9	G	T	6: 56,852,677 (GRCm39)	V466F	probably damaging	Het
Fras1	G	A	5: 96,805,087 (GRCm39)	R1243Q	probably benign	Het
Fsip2	C	T	2: 82,815,958 (GRCm39)	T3897I	probably benign	Het
Gstm5	A	G	3: 107,804,634 (GRCm39)	I73V	probably benign	Het
Hspb9	A	G	11: 100,604,769 (GRCm39)	M32V	possibly damaging	Het
Ift80	A	G	3: 68,825,894 (GRCm39)	I482T	possibly damaging	Het
Khk	C	T	5: 31,079,141 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,747,324 (GRCm39)	H3333Q	unknown	Het
Lamc1	G	T	1: 153,119,087 (GRCm39)	T844K	probably damaging	Het
Luc7l2	A	T	6: 38,542,633 (GRCm39)	I10L	probably benign	Het
Mosmo	T	A	7: 120,277,055 (GRCm39)	I23N	probably benign	Het
Mtcl2	A	G	2: 156,881,919 (GRCm39)	V711A	probably benign	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Nsun7	T	C	5: 66,418,366 (GRCm39)	V32A	probably benign	Het
Oog1	A	G	12: 87,653,016 (GRCm39)	D104G	probably damaging	Het
Or4b13	C	T	2: 90,082,820 (GRCm39)	V171M	possibly damaging	Het
Pde3a	A	G	6: 141,437,904 (GRCm39)	D991G	probably damaging	Het
Pds5a	G	A	5: 65,805,281 (GRCm39)	H522Y	probably benign	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Plk4	T	A	3: 40,760,990 (GRCm39)	V440E	possibly damaging	Het
Prkd2	A	G	7: 16,577,699 (GRCm39)	I51V	probably damaging	Het
Ptprt	T	C	2: 161,402,106 (GRCm39)	T1042A	probably damaging	Het
Rsph6a	C	A	7: 18,801,986 (GRCm39)	T600N	possibly damaging	Het
Scn11a	A	T	9: 119,611,013 (GRCm39)	V946E	probably damaging	Het
Sec11a	G	A	7: 80,565,634 (GRCm39)	L170F	probably damaging	Het
Slc15a5	A	G	6: 137,961,450 (GRCm39)	I215T		Het
Slc1a1	A	G	19: 28,882,794 (GRCm39)	I353V	probably benign	Het
Smox	A	G	2: 131,362,843 (GRCm39)	E374G	possibly damaging	Het
Sytl2	A	G	7: 90,050,633 (GRCm39)	T727A	possibly damaging	Het
Taar7d	A	C	10: 23,904,124 (GRCm39)	K335N	probably benign	Het
Tacc2	T	A	7: 130,227,985 (GRCm39)	S1557T	probably benign	Het
Tbx19	C	A	1: 164,966,609 (GRCm39)	V422L	probably benign	Het
Tdrd1	G	T	19: 56,831,679 (GRCm39)	V357F	probably benign	Het
Tdrd6	A	G	17: 43,939,231 (GRCm39)	C606R	probably damaging	Het
Tmcc1	C	G	6: 116,020,049 (GRCm39)	G468R		Het
Tmem209	G	A	6: 30,506,838 (GRCm39)	T93I	probably damaging	Het
Trpv1	T	C	11: 73,141,681 (GRCm39)	V568A	possibly damaging	Het
Tsbp1	A	T	17: 34,648,922 (GRCm39)	I43L		Het
Tubgcp2	T	C	7: 139,587,965 (GRCm39)	D220G	probably damaging	Het
Vmn1r11	A	G	6: 57,114,992 (GRCm39)	R219G	possibly damaging	Het
Zan	A	G	5: 137,465,463 (GRCm39)	S431P	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
R2900:Fut7	UTSW	2	25,313,923 (GRCm39)	missense	probably benign
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
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'- TGGAGGAGCAACATTCATGG -3'
(R):5'- ATCCTGCTTTTGGCCGGTAG -3'

Sequencing Primer
(F):5'- ATCAGCTCCTGGAAGTGCC -3'
(R):5'- TGTGGGCCCAGAGAGAG -3'

Posted On

2022-02-07