Mutagenetix > Incidental Mutation

Incidental Mutation 'R9647:Sec1'

726801

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 #

R9647 (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 T at 45328556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 164 (R164S)

Ref Sequence

ENSEMBL: ENSMUSP00000045229 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040636
AA Change: R164S

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045229
Gene: ENSMUSG00000040364
AA Change: R164S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	C	A	16: 20,195,310 (GRCm39)	R729L	probably benign	Het
Actr3b	T	C	5: 26,037,408 (GRCm39)	S295P	probably benign	Het
Alb	G	A	5: 90,620,544 (GRCm39)		probably null	Het
Ank2	T	A	3: 126,792,623 (GRCm39)	N756I	possibly damaging	Het
Ankar	A	G	1: 72,689,307 (GRCm39)	Y1275H	probably damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Birc6	G	A	17: 74,999,305 (GRCm39)	V4678M	probably damaging	Het
Bmpr1a	A	G	14: 34,136,694 (GRCm39)	V499A	probably benign	Het
Ccdc142	A	G	6: 83,079,259 (GRCm39)	N199D	probably benign	Het
Ccdc179	G	T	7: 51,663,311 (GRCm39)	Y38*	probably null	Het
Cdhr2	A	T	13: 54,867,394 (GRCm39)	M438L	probably benign	Het
Cfap74	A	T	4: 155,549,373 (GRCm39)	Q78L	unknown	Het
Crocc	A	T	4: 140,774,335 (GRCm39)	S155T	probably benign	Het
Depdc5	T	A	5: 33,081,567 (GRCm39)	H576Q	possibly damaging	Het
Dhx30	A	T	9: 109,922,214 (GRCm39)	L156Q	probably damaging	Het
Dido1	T	A	2: 180,315,068 (GRCm39)	T795S	probably benign	Het
Dlx1	T	C	2: 71,360,476 (GRCm39)	S47P	probably benign	Het
Dspp	G	A	5: 104,323,636 (GRCm39)	A260T	possibly damaging	Het
Ephx2	T	C	14: 66,326,957 (GRCm39)	T413A	probably benign	Het
Erp44	A	C	4: 48,205,166 (GRCm39)	L276V	probably benign	Het
Fastkd5	T	A	2: 130,457,729 (GRCm39)	Q287L	probably damaging	Het
Foxh1	T	A	15: 76,553,460 (GRCm39)	H114L	possibly damaging	Het
Fry	A	T	5: 150,292,984 (GRCm39)	L410F	probably damaging	Het
Gamt	T	A	10: 80,095,672 (GRCm39)	H86L	probably damaging	Het
Gdpd5	G	T	7: 99,104,241 (GRCm39)	R483L	probably benign	Het
Gm17067	A	C	7: 42,357,569 (GRCm39)	V311G	probably benign	Het
Gpatch2	C	T	1: 187,054,542 (GRCm39)	T422I	probably damaging	Het
Gpi1	A	G	7: 33,901,879 (GRCm39)	I546T	probably damaging	Het
Gyg1	A	C	3: 20,177,007 (GRCm39)	S328A	probably benign	Het
Heatr1	T	A	13: 12,441,679 (GRCm39)	V1491E	probably benign	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Ildr2	T	C	1: 166,137,038 (GRCm39)	S626P	probably benign	Het
Insr	T	G	8: 3,205,874 (GRCm39)	E1305A	probably benign	Het
Iqca1	T	A	1: 89,998,258 (GRCm39)	T572S	probably benign	Het
Kdm4a	A	T	4: 118,003,790 (GRCm39)	M762K	probably benign	Het
Kdm4a	T	A	4: 118,017,399 (GRCm39)	T556S	probably benign	Het
Lama1	A	G	17: 68,024,170 (GRCm39)	I89M		Het
Larp7	T	C	3: 127,334,211 (GRCm39)	K539E	probably damaging	Het
Mmadhc	C	A	2: 50,186,482 (GRCm39)		probably benign	Het
Mmp2	A	G	8: 93,567,114 (GRCm39)	D478G	probably damaging	Het
Nat10	T	C	2: 103,578,538 (GRCm39)	Q222R	probably benign	Het
Nlgn1	A	T	3: 25,488,182 (GRCm39)	Y718N	probably damaging	Het
Nlrp5	A	T	7: 23,107,576 (GRCm39)	E83V	probably benign	Het
Odc1	T	C	12: 17,598,614 (GRCm39)	V218A	possibly damaging	Het
Or10al4	A	T	17: 38,037,796 (GRCm39)	I294F	probably damaging	Het
Or11g26	G	C	14: 50,753,552 (GRCm39)	R297T	probably damaging	Het
Or9r3	A	G	10: 129,948,029 (GRCm39)	I210T	probably damaging	Het
Oxsr1	G	A	9: 119,083,932 (GRCm39)	S324F	probably damaging	Het
Pclo	C	T	5: 14,731,788 (GRCm39)	T304M		Het
Pgghg	A	G	7: 140,526,743 (GRCm39)	R687G	possibly damaging	Het
Plxna4	A	G	6: 32,228,044 (GRCm39)	S521P	probably damaging	Het
Rasgrp4	A	G	7: 28,839,917 (GRCm39)	S172G	probably damaging	Het
Rora	A	G	9: 69,255,450 (GRCm39)	D78G	probably damaging	Het
Sesn3	A	G	9: 14,225,999 (GRCm39)	N245D	probably benign	Het
Slc44a5	T	A	3: 153,953,370 (GRCm39)	W251R	possibly damaging	Het
Ssr2	T	C	3: 88,487,206 (GRCm39)	V7A	possibly damaging	Het
Syne2	A	G	12: 76,151,875 (GRCm39)	D1912G	possibly damaging	Het
Tcea2	C	A	2: 181,322,984 (GRCm39)	T1N	probably benign	Het
Tmem131l	T	C	3: 83,836,018 (GRCm39)	Y697C	probably damaging	Het
Tmx4	T	C	2: 134,481,588 (GRCm39)	M112V	probably benign	Het
Tom1	G	T	8: 75,785,495 (GRCm39)	A330S	probably benign	Het
Trip4	A	T	9: 65,765,616 (GRCm39)	L361*	probably null	Het
Trmt9b	T	C	8: 36,979,210 (GRCm39)	I271T	probably benign	Het
Trp73	T	G	4: 154,165,788 (GRCm39)	T142P	probably damaging	Het
Trpm5	T	A	7: 142,634,498 (GRCm39)	D683V	possibly damaging	Het
Trpm7	T	C	2: 126,667,562 (GRCm39)	I810V	probably damaging	Het
Trps1	A	T	15: 50,524,944 (GRCm39)	S995R	probably benign	Het
Ttn	C	A	2: 76,608,269 (GRCm39)	E17885*	probably null	Het
Uggt2	A	T	14: 119,256,312 (GRCm39)	Y1120N	probably damaging	Het
Unc13a	A	T	8: 72,104,882 (GRCm39)	N793K	probably damaging	Het
Vcf1	T	C	11: 113,568,146 (GRCm39)	D103G	probably damaging	Het
Vmn2r94	T	C	17: 18,463,884 (GRCm39)	H802R	probably benign	Het
Vmn2r-ps158	T	C	7: 42,697,171 (GRCm39)	C743R	probably damaging	Het
Zdhhc5	A	T	2: 84,524,750 (GRCm39)	M190K	probably benign	Het
Zfp719	A	T	7: 43,233,602 (GRCm39)	N7I	possibly damaging	Het
Zfp735	A	G	11: 73,580,600 (GRCm39)	Y33C	probably damaging	Het
Zgrf1	C	T	3: 127,355,251 (GRCm39)	T159I	probably benign	Het
Zzef1	A	T	11: 72,760,651 (GRCm39)	T1325S	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
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
R9485:Sec1	UTSW	7	45,328,033 (GRCm39)	missense	probably damaging	1.00
R9591:Sec1	UTSW	7	45,328,102 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTGGGCATGACACGCACATAG -3'
(R):5'- GAATATGCCACGCTGTTTGCAC -3'

Sequencing Primer
(F):5'- TGGACACCCACAAAGGTACTTG -3'
(R):5'- ACTGGCCCGGATGAATGGAC -3'

Posted On

2022-10-06