Mutagenetix > Incidental Mutation

Incidental Mutation 'R4448:Fut7'

328819

Institutional Source

Beutler Lab

Gene Symbol

Fut7

Ensembl Gene

ENSMUSG00000036587

Gene Name

fucosyltransferase 7

Synonyms

FTVII, Fuc-TVII, FucT-VII

MMRRC Submission

041709-MU

Accession Numbers

Essential gene?

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

Stock #

R4448 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25313279-25316386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25314951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 70 (T70A)

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
AA Change: T23A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000039985
Gene: ENSMUSG00000036587
AA Change: T23A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100320
AA Change: T70A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097895
Gene: ENSMUSG00000036587
AA Change: T70A

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
AA Change: T23A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109917
Gene: ENSMUSG00000036587
AA Change: T23A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134259
AA Change: T23A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000123526
Gene: ENSMUSG00000036587
AA Change: T23A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142156

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

94% (49/52)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	T	A	8: 10,976,129 (GRCm39)		noncoding transcript	Het
A1cf	A	T	19: 31,923,262 (GRCm39)	T513S	probably benign	Het
Acaca	A	T	11: 84,153,318 (GRCm39)	I909F	probably damaging	Het
Adgb	T	C	10: 10,266,569 (GRCm39)	I980V	probably benign	Het
Akap13	T	A	7: 75,392,508 (GRCm39)	F2450L	probably damaging	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Asb8	A	G	15: 98,039,211 (GRCm39)	V63A	possibly damaging	Het
Atp6v1b2	T	A	8: 69,554,674 (GRCm39)	D126E	probably benign	Het
BC048562	T	A	9: 108,315,723 (GRCm39)	L43Q	probably damaging	Het
Ctcf	A	T	8: 106,406,925 (GRCm39)		probably benign	Het
Efs	A	G	14: 55,157,649 (GRCm39)	S128P	probably damaging	Het
Epg5	T	A	18: 78,005,676 (GRCm39)	M722K	probably damaging	Het
Ezr	T	C	17: 7,020,473 (GRCm39)	I203V	probably benign	Het
F5	A	T	1: 164,026,468 (GRCm39)	N1680I	possibly damaging	Het
Fcna	A	G	2: 25,515,488 (GRCm39)	F194L	probably damaging	Het
Galnt2	A	G	8: 125,022,116 (GRCm39)	D14G	probably benign	Het
Gpr4	G	A	7: 18,956,926 (GRCm39)	A283T	probably damaging	Het
Herc2	T	C	7: 55,877,640 (GRCm39)	L4569P	probably damaging	Het
Hhip	C	T	8: 80,770,574 (GRCm39)		probably null	Het
Hoxc12	A	G	15: 102,846,911 (GRCm39)	K268E	probably damaging	Het
Iqcm	T	C	8: 76,356,394 (GRCm39)	S176P	probably damaging	Het
Kansl1l	A	G	1: 66,777,318 (GRCm39)	S605P	probably damaging	Het
Kcnh4	A	G	11: 100,646,733 (GRCm39)	F198L	probably benign	Het
Kmt2e	T	C	5: 23,669,788 (GRCm39)	F92L	possibly damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mycbp2	T	C	14: 103,425,938 (GRCm39)	I2396V	possibly damaging	Het
Nckap5	G	A	1: 125,953,463 (GRCm39)	Q1030*	probably null	Het
Pag1	T	C	3: 9,764,526 (GRCm39)	E209G	probably benign	Het
Pramel30	A	C	4: 144,059,255 (GRCm39)	H322P	probably damaging	Het
Pttg1	A	T	11: 43,315,517 (GRCm39)		probably benign	Het
Rab38	T	G	7: 88,139,833 (GRCm39)	D167E	probably benign	Het
Rbm26	A	T	14: 105,388,986 (GRCm39)	F302I	probably damaging	Het
Rpap2	G	A	5: 107,749,661 (GRCm39)	V62I	possibly damaging	Het
Sec23b	A	G	2: 144,401,171 (GRCm39)	N11D	probably benign	Het
Sipa1l1	G	A	12: 82,388,524 (GRCm39)	G250D	probably benign	Het
Sipa1l2	A	T	8: 126,219,094 (GRCm39)	V81D	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Sqstm1	A	G	11: 50,093,866 (GRCm39)		probably benign	Het
Taf4	A	G	2: 179,577,764 (GRCm39)	L519P	possibly damaging	Het
Tdrd6	C	T	17: 43,940,626 (GRCm39)	G141S	probably benign	Het
Urb1	C	T	16: 90,566,282 (GRCm39)	V1502I	possibly damaging	Het
Vmn1r222	A	C	13: 23,416,463 (GRCm39)	V250G	probably benign	Het
Vmn1r222	G	A	13: 23,416,830 (GRCm39)	L128F	probably damaging	Het
Wwc2	A	G	8: 48,321,702 (GRCm39)	Y471H	unknown	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
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'- AGAAGGCTCCAGATGAATTGTATTG -3'
(R):5'- TGGAAGACCACAGCATCAGC -3'

Sequencing Primer
(F):5'- CCAGATGAATTGTATTGGTGAGTGCC -3'
(R):5'- CTCCGGTTAGCACTCAGAC -3'

Posted On

2015-07-21