Mutagenetix > Incidental Mutation

Incidental Mutation 'R9485:Sec1'

716519

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9485 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45327110-45343825 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45328033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 338 (T338I)

Ref Sequence

ENSEMBL: ENSMUSP00000045229 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040636
AA Change: T338I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045229
Gene: ENSMUSG00000040364
AA Change: T338I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,383,400 (GRCm39)	D855G	possibly damaging	Het
4930486L24Rik	A	T	13: 61,001,059 (GRCm39)	V159D	possibly damaging	Het
Ahnak	G	A	19: 8,979,438 (GRCm39)	A241T	probably benign	Het
Apoa4	T	C	9: 46,152,453 (GRCm39)	M1T	probably null	Het
Atn1	T	C	6: 124,722,748 (GRCm39)	K776E	unknown	Het
Atp1a2	A	G	1: 172,105,822 (GRCm39)	*948R	probably null	Het
Atp7b	T	C	8: 22,502,778 (GRCm39)	Q801R	probably damaging	Het
Birc6	T	A	17: 74,945,398 (GRCm39)	S2824T	probably damaging	Het
Cacng3	A	T	7: 122,361,435 (GRCm39)	I109F	probably damaging	Het
Cass4	T	C	2: 172,269,805 (GRCm39)	F629S	probably benign	Het
Ccdc168	T	G	1: 44,095,399 (GRCm39)	K1900Q	possibly damaging	Het
Cnot6l	T	C	5: 96,230,858 (GRCm39)	T370A	probably damaging	Het
Cntnap5c	A	C	17: 58,409,103 (GRCm39)	D447A	probably damaging	Het
Col11a2	T	A	17: 34,258,669 (GRCm39)	L14Q	unknown	Het
Dennd4a	T	G	9: 64,814,388 (GRCm39)	Y1505*	probably null	Het
Dhx32	T	C	7: 133,327,110 (GRCm39)	M464V	possibly damaging	Het
Dip2b	T	C	15: 100,052,924 (GRCm39)	V266A	probably benign	Het
Dnajb6	C	T	5: 29,986,517 (GRCm39)	Q220*	probably null	Het
Dnmt3a	G	A	12: 3,916,121 (GRCm39)	S102N	probably benign	Het
Dph5	A	T	3: 115,681,977 (GRCm39)		probably benign	Het
Ear6	T	A	14: 52,091,489 (GRCm39)	L12H		Het
Erp27	T	C	6: 136,886,548 (GRCm39)	T162A	possibly damaging	Het
Fance	T	A	17: 28,536,479 (GRCm39)	L13H	probably damaging	Het
Fanci	T	A	7: 79,089,405 (GRCm39)	V947D	probably benign	Het
Gab1	G	A	8: 81,515,484 (GRCm39)	T278M	probably damaging	Het
Gbp4	A	T	5: 105,269,796 (GRCm39)	M344K	probably damaging	Het
Gpr87	C	T	3: 59,087,005 (GRCm39)	V167M	possibly damaging	Het
Gramd1a	T	G	7: 30,829,963 (GRCm39)	D708A	unknown	Het
Gzmd	T	A	14: 56,368,160 (GRCm39)	I100F	probably benign	Het
Hcrtr1	T	A	4: 130,031,054 (GRCm39)	M77L	possibly damaging	Het
Hipk2	C	A	6: 38,680,445 (GRCm39)	R965L	possibly damaging	Het
Ift88	T	C	14: 57,675,724 (GRCm39)	M79T	probably benign	Het
Ighv1-12	T	C	12: 114,579,525 (GRCm39)	Y99C	possibly damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Il22b	A	G	10: 118,130,314 (GRCm39)	V63A	probably benign	Het
Mllt1	C	T	17: 57,207,184 (GRCm39)	R220H	probably damaging	Het
Mroh8	T	C	2: 157,071,913 (GRCm39)	T531A	probably benign	Het
Myh6	T	C	14: 55,181,802 (GRCm39)	K1833R	probably benign	Het
Nfkbie	C	T	17: 45,871,353 (GRCm39)	T270I	probably damaging	Het
Or4c110	G	A	2: 88,831,709 (GRCm39)	P308S	unknown	Het
Or52b3	A	T	7: 102,204,013 (GRCm39)	N174I	probably damaging	Het
Or52e5	C	T	7: 104,718,703 (GRCm39)	H10Y	possibly damaging	Het
Pcdh8	A	T	14: 80,005,689 (GRCm39)	F900I	probably damaging	Het
Pcolce2	T	A	9: 95,520,720 (GRCm39)	C32*	probably null	Het
Pus7	A	T	5: 23,973,859 (GRCm39)	S212T	probably benign	Het
Rgs12	G	T	5: 35,189,614 (GRCm39)	W1322L	probably damaging	Het
Slc25a36	T	C	9: 96,962,522 (GRCm39)	K156E	probably benign	Het
Snrpn	C	T	7: 59,637,212 (GRCm39)	D35N	probably damaging	Het
Sox9	A	G	11: 112,673,705 (GRCm39)	S99G	probably benign	Het
Spmip3	T	C	1: 177,580,545 (GRCm39)	V130A	possibly damaging	Het
Tacc3	T	C	5: 33,821,644 (GRCm39)	S135P	possibly damaging	Het
Taf2	T	C	15: 54,911,667 (GRCm39)	E583G	probably benign	Het
Tmprss7	T	A	16: 45,498,282 (GRCm39)	K366*	probably null	Het
Trpm6	G	T	19: 18,755,978 (GRCm39)	V74L	probably benign	Het
Ttbk2	G	T	2: 120,575,986 (GRCm39)	T997N	probably benign	Het
Utp25	C	A	1: 192,812,541 (GRCm39)		probably benign	Het
Vmn2r3	T	A	3: 64,183,046 (GRCm39)	I218F	probably damaging	Het
Vps50	T	C	6: 3,592,557 (GRCm39)	V730A	probably damaging	Het
Wdr47	A	T	3: 108,544,371 (GRCm39)	I665F	probably damaging	Het
Wnt7a	T	A	6: 91,343,297 (GRCm39)	N195I	probably benign	Het
Zfp131	A	G	13: 120,251,885 (GRCm39)		probably benign	Het
Zfp709	T	A	8: 72,643,669 (GRCm39)	V366E	possibly damaging	Het
Zfp985	T	A	4: 147,668,280 (GRCm39)	C383S	probably damaging	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
R3498:Sec1	UTSW	7	45,328,663 (GRCm39)	missense	probably damaging	0.99
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
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'- AGACAGGACTGGAAATCCACTG -3'
(R):5'- TGGTCACCAGTGATGACATGG -3'

Sequencing Primer
(F):5'- CTGGAAATCCACTGAGCATGTGC -3'
(R):5'- ACCAGTGATGACATGGCCTGG -3'

Posted On

2022-07-18