Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Sec1'

273659

Institutional Source

Beutler Lab

Gene Symbol

Sec1

Ensembl Gene

ENSMUSG00000040364

Gene Name

secretory blood group 1

Synonyms

GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase FUT-III, Fut3

MMRRC Submission

040661-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45327110-45343825 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45328663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 128 (H128R)

Ref Sequence

ENSEMBL: ENSMUSP00000045229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040636] [ENSMUST00000182750]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040636
AA Change: H128R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045229
Gene: ENSMUSG00000040364
AA Change: H128R

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_11	55	362	1.6e-146	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182750

SMART Domains

Protein: ENSMUSP00000138412
Gene: ENSMUSG00000070564

Domain	Start	End	E-Value	Type
EGF_Lam	41	93	4.1e-2	SMART
EGF_Lam	96	156	3.59e-7	SMART
EGF_Lam	159	206	1.75e-10	SMART
low complexity region	212	220	N/A	INTRINSIC
C345C	244	363	4.71e-23	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

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

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: This gene is one of three genes in mouse which encode a galactoside 2-L-fucosyltransferase. These genes differ in their developmental- and tissue-specific expression. This gene is predicted to encode a type II membrane protein, which is anchored in the Golgi apparatus and controls the final step in the creation of alpha (1,2) fucosylated carbhohydrates by the addition of a terminal fucose in an alpha (1,2) linkage. The biological function of the fucosylated carbhohydrate products is thought to involve cell-adhesion and interactions with microorganisms. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,649,350 (GRCm39)	F6L	probably benign	Het
Aurkc	A	G	7: 7,003,029 (GRCm39)	I175V	probably damaging	Het
Azi2	A	G	9: 117,878,475 (GRCm39)	D105G	probably damaging	Het
Bcat1	A	G	6: 144,965,068 (GRCm39)	V45A	probably damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Ddx42	A	G	11: 106,122,019 (GRCm39)	E178G	possibly damaging	Het
Dmpk	T	C	7: 18,820,306 (GRCm39)	I101T	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Fosb	C	T	7: 19,040,557 (GRCm39)	R161H	probably damaging	Het
Gm6729	T	C	10: 86,376,582 (GRCm39)		noncoding transcript	Het
Gnb1	T	A	4: 155,639,483 (GRCm39)	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,911,113 (GRCm39)	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,480,853 (GRCm39)	I4441N	probably damaging	Het
Ighe	G	A	12: 113,234,994 (GRCm39)	Q389*	probably null	Het
Kcnj11	T	C	7: 45,749,026 (GRCm39)	D23G	probably damaging	Het
Lats2	G	T	14: 57,959,923 (GRCm39)	A191E	possibly damaging	Het
Lyplal1	A	G	1: 185,820,857 (GRCm39)	S197P	possibly damaging	Het
Map4	G	T	9: 109,864,280 (GRCm39)	V502L	probably benign	Het
Mgat5	A	G	1: 127,312,571 (GRCm39)	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,193,510 (GRCm39)	R68G	probably benign	Het
Nell1	T	A	7: 49,907,927 (GRCm39)	V362E	possibly damaging	Het
Or5m8	T	A	2: 85,822,774 (GRCm39)	F204L	probably benign	Het
Or6c66b	T	A	10: 129,376,778 (GRCm39)	I124N	probably damaging	Het
P4ha2	T	C	11: 54,010,079 (GRCm39)	Y279H	probably benign	Het
Pcid2	A	G	8: 13,150,413 (GRCm39)	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,151,624 (GRCm39)	I116T	probably benign	Het
Prdm9	A	G	17: 15,783,207 (GRCm39)		probably benign	Het
Prr5	T	A	15: 84,587,345 (GRCm39)	V365E	probably benign	Het
Ptprf	A	T	4: 118,082,127 (GRCm39)	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sde2	T	A	1: 180,685,750 (GRCm39)	C101S	probably damaging	Het
Serpinb6a	A	T	13: 34,102,764 (GRCm39)	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,263,973 (GRCm39)	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,882,879 (GRCm39)	K328N	probably benign	Het
Slc24a4	A	T	12: 102,200,951 (GRCm39)	K278N	probably benign	Het
Slc6a21	T	A	7: 44,930,266 (GRCm39)	W222R	probably damaging	Het
Slc7a2	A	G	8: 41,365,567 (GRCm39)	E466G	probably benign	Het
Sspo	A	G	6: 48,444,914 (GRCm39)	T2133A	possibly damaging	Het
Taco1	A	G	11: 105,963,364 (GRCm39)	M172V	probably benign	Het
Tmem127	T	A	2: 127,098,040 (GRCm39)	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,351,223 (GRCm39)		noncoding transcript	Het
Vac14	A	G	8: 111,397,722 (GRCm39)	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,534,667 (GRCm39)	K162I	probably benign	Het

Other mutations in Sec1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0034:Sec1	UTSW	7	45,328,759 (GRCm39)	missense	probably benign	0.00
R0076:Sec1	UTSW	7	45,328,315 (GRCm39)	missense	probably damaging	1.00
R0076:Sec1	UTSW	7	45,328,315 (GRCm39)	missense	probably damaging	1.00
R1716:Sec1	UTSW	7	45,328,789 (GRCm39)	missense	probably benign	0.00
R1780:Sec1	UTSW	7	45,328,256 (GRCm39)	missense	probably benign	0.00
R4634:Sec1	UTSW	7	45,328,297 (GRCm39)	missense	probably damaging	1.00
R4822:Sec1	UTSW	7	45,328,727 (GRCm39)	missense	probably damaging	1.00
R5384:Sec1	UTSW	7	45,328,264 (GRCm39)	missense	probably benign	0.12
R7371:Sec1	UTSW	7	45,328,034 (GRCm39)	missense	probably damaging	1.00
R7417:Sec1	UTSW	7	45,334,149 (GRCm39)	splice site	probably null
R8868:Sec1	UTSW	7	45,328,700 (GRCm39)	missense	probably benign	0.00
R8969:Sec1	UTSW	7	45,328,897 (GRCm39)	missense	possibly damaging	0.46
R9081:Sec1	UTSW	7	45,333,987 (GRCm39)	intron	probably benign
R9199:Sec1	UTSW	7	45,328,009 (GRCm39)	missense	probably benign	0.02
R9485:Sec1	UTSW	7	45,328,033 (GRCm39)	missense	probably damaging	1.00
R9591:Sec1	UTSW	7	45,328,102 (GRCm39)	missense
R9647:Sec1	UTSW	7	45,328,556 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TGCAGGGTGAACTCCTTCAG -3'
(R):5'- TAGGAGACTTGCAACCCTGC -3'

Sequencing Primer
(F):5'- AGGGTGAACTCCTTCAGGATCTC -3'
(R):5'- ACAGTGCTCCAGCGACTCAG -3'

Posted On

2015-04-02