Mutagenetix > Incidental Mutation

Incidental Mutation 'R0363:St6galnac1'

65709

Institutional Source

Beutler Lab

Gene Symbol

St6galnac1

Ensembl Gene

ENSMUSG00000009588

Gene Name

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1

Synonyms

Siat7a, ST6GalNAc I

MMRRC Submission

038569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0363 (G1)

Quality Score

101

Status

Not validated

Chromosome

Chromosomal Location

116655851-116666333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 116659756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 186 (S186A)

Ref Sequence

ENSEMBL: ENSMUSP00000009732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009732]

AlphaFold

Q9QZ39

Predicted Effect

probably benign
Transcript: ENSMUST00000009732
AA Change: S186A

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: S186A

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
Pfam:Glyco_transf_29	230	518	2.9e-72	PFAM

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 86.5%

Validation Efficiency

98% (78/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	A	4: 109,381,520 (GRCm39)	Q86L	probably null	Het
Abhd2	A	G	7: 79,000,561 (GRCm39)	D262G	possibly damaging	Het
Abhd5	T	C	9: 122,197,211 (GRCm39)	F133L	possibly damaging	Het
Agap2	T	A	10: 126,926,834 (GRCm39)	V957E	probably damaging	Het
Ankrd12	T	C	17: 66,292,676 (GRCm39)	K919R	probably damaging	Het
Ap1m1	T	C	8: 73,006,738 (GRCm39)	S245P	probably benign	Het
Ap1m1	T	C	8: 73,010,568 (GRCm39)		probably benign	Het
Apcdd1	A	G	18: 63,070,168 (GRCm39)	Y145C	possibly damaging	Het
Apob	A	T	12: 8,060,136 (GRCm39)	N2840Y	probably damaging	Het
Arel1	A	G	12: 84,981,027 (GRCm39)	S327P	probably damaging	Het
Arhgap21	C	A	2: 20,885,944 (GRCm39)	R421L	probably damaging	Het
Ccdc85a	A	T	11: 28,533,400 (GRCm39)	I48N	probably damaging	Het
Chd6	A	G	2: 160,856,244 (GRCm39)	S672P	probably damaging	Het
Ciz1	G	C	2: 32,267,375 (GRCm39)		probably null	Het
Cmbl	G	A	15: 31,585,588 (GRCm39)		probably null	Het
Cmya5	A	G	13: 93,231,377 (GRCm39)	V1237A	possibly damaging	Het
Cntnap4	A	T	8: 113,583,143 (GRCm39)	K1074*	probably null	Het
Cntnap5b	A	G	1: 100,202,193 (GRCm39)	M347V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cuzd1	A	T	7: 130,917,991 (GRCm39)	M203K	probably benign	Het
Cyp3a16	T	C	5: 145,392,689 (GRCm39)		probably benign	Het
Dlgap3	A	G	4: 127,129,314 (GRCm39)	E892G	probably damaging	Het
Dnah7b	T	C	1: 46,275,948 (GRCm39)	S2612P	probably damaging	Het
Epas1	T	G	17: 87,113,276 (GRCm39)		probably benign	Het
Etv5	G	A	16: 22,230,458 (GRCm39)	A192V	probably benign	Het
Fa2h	T	A	8: 112,075,921 (GRCm39)	H234L	probably damaging	Het
Fcho1	T	C	8: 72,170,134 (GRCm39)	Y47C	probably damaging	Het
Flvcr1	T	A	1: 190,744,451 (GRCm39)		probably benign	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	T	C	8: 82,610,886 (GRCm39)		probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kmt2a	A	G	9: 44,721,010 (GRCm39)		probably null	Het
Krt4	G	A	15: 101,833,081 (GRCm39)	R9C	possibly damaging	Het
Map1a	T	C	2: 121,132,525 (GRCm39)	S876P	probably damaging	Het
Mettl21e	A	G	1: 44,250,190 (GRCm39)		probably null	Het
Msh2	C	T	17: 88,024,904 (GRCm39)	T594M	probably benign	Het
Mtmr3	A	G	11: 4,437,536 (GRCm39)	S973P	probably damaging	Het
Muc5ac	A	T	7: 141,354,697 (GRCm39)	M889L	probably benign	Het
Ntn1	A	G	11: 68,276,369 (GRCm39)	I193T	probably benign	Het
Nudt13	A	T	14: 20,359,851 (GRCm39)	I193F	probably damaging	Het
Or2n1	A	G	17: 38,486,338 (GRCm39)	D121G	probably damaging	Het
Or3a1	C	T	11: 74,225,925 (GRCm39)	G44D	probably damaging	Het
Or4b1b	A	T	2: 90,112,200 (GRCm39)	S240T	probably damaging	Het
Or5p73	A	T	7: 108,064,941 (GRCm39)	T137S	possibly damaging	Het
Otulin	A	G	15: 27,606,381 (GRCm39)	V344A	probably damaging	Het
P2rx7	C	T	5: 122,795,093 (GRCm39)	Q128*	probably null	Het
Pcdhb22	G	A	18: 37,652,213 (GRCm39)	R227H	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pltp	C	T	2: 164,682,056 (GRCm39)	R394H	probably benign	Het
Ppip5k1	C	G	2: 121,177,836 (GRCm39)	A324P	probably damaging	Het
Pramel14	C	T	4: 143,718,221 (GRCm39)	M407I	probably benign	Het
Prdm13	A	C	4: 21,679,737 (GRCm39)	V251G	unknown	Het
Prkg1	T	C	19: 31,641,596 (GRCm39)	E29G	probably damaging	Het
Prrc2c	A	G	1: 162,525,380 (GRCm39)	S409P	unknown	Het
Rp1	T	A	1: 4,417,941 (GRCm39)	D1057V	probably damaging	Het
Rttn	G	A	18: 89,029,079 (GRCm39)	C599Y	probably damaging	Het
Shisa6	C	T	11: 66,416,153 (GRCm39)	R213Q	probably benign	Het
Slc3a1	T	C	17: 85,340,273 (GRCm39)	Y232H	probably damaging	Het
Slx4	G	A	16: 3,797,953 (GRCm39)	A1477V	probably damaging	Het
Ssrp1	T	G	2: 84,871,018 (GRCm39)	I218S	probably damaging	Het
Stab1	A	G	14: 30,880,965 (GRCm39)		probably benign	Het
Sycp2	T	C	2: 177,988,204 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,118,981 (GRCm39)	I5867N	probably damaging	Het
Taar7f	T	A	10: 23,925,839 (GRCm39)	D144E	probably damaging	Het
Tlcd5	A	T	9: 43,023,048 (GRCm39)	M84K	probably damaging	Het
Tmem87b	T	A	2: 128,673,153 (GRCm39)	S196T	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,768 (GRCm39)	T127A	probably benign	Het
Trp73	A	G	4: 154,148,406 (GRCm39)	I336T	probably benign	Het
Ttl	A	G	2: 128,917,981 (GRCm39)	I148V	probably damaging	Het
Ttll7	T	C	3: 146,649,970 (GRCm39)	Y667H	probably benign	Het
Ubr4	A	G	4: 139,119,171 (GRCm39)	T152A	probably damaging	Het
Vmn1r58	A	T	7: 5,413,636 (GRCm39)	V198E	probably damaging	Het
Vps52	T	A	17: 34,181,091 (GRCm39)	F376L	probably benign	Het
Zfp1007	T	C	5: 109,824,754 (GRCm39)	E232G	probably benign	Het

Other mutations in St6galnac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:St6galnac1	APN	11	116,658,532 (GRCm39)	missense	probably damaging	1.00
IGL01451:St6galnac1	APN	11	116,660,165 (GRCm39)	missense	probably benign	0.00
IGL01873:St6galnac1	APN	11	116,657,437 (GRCm39)	missense	probably damaging	0.98
IGL02569:St6galnac1	APN	11	116,658,528 (GRCm39)	missense	probably damaging	1.00
IGL02799:St6galnac1	APN	11	116,657,473 (GRCm39)	splice site	probably benign
IGL02935:St6galnac1	APN	11	116,660,171 (GRCm39)	missense	probably benign
IGL03124:St6galnac1	APN	11	116,666,125 (GRCm39)	missense	probably benign	0.00
PIT4520001:St6galnac1	UTSW	11	116,660,175 (GRCm39)	missense	probably benign	0.00
R0126:St6galnac1	UTSW	11	116,657,410 (GRCm39)	missense	probably benign	0.00
R0394:St6galnac1	UTSW	11	116,657,466 (GRCm39)	missense	probably damaging	0.99
R0828:St6galnac1	UTSW	11	116,659,823 (GRCm39)	missense	probably benign	0.05
R1569:St6galnac1	UTSW	11	116,660,097 (GRCm39)	missense	possibly damaging	0.46
R1570:St6galnac1	UTSW	11	116,657,474 (GRCm39)	splice site	probably benign
R1591:St6galnac1	UTSW	11	116,656,689 (GRCm39)	missense	probably damaging	1.00
R1602:St6galnac1	UTSW	11	116,660,113 (GRCm39)	missense	probably benign	0.00
R2088:St6galnac1	UTSW	11	116,659,933 (GRCm39)	missense	probably benign	0.00
R2212:St6galnac1	UTSW	11	116,656,682 (GRCm39)	missense	probably damaging	1.00
R2266:St6galnac1	UTSW	11	116,658,673 (GRCm39)	nonsense	probably null
R3413:St6galnac1	UTSW	11	116,656,682 (GRCm39)	missense	probably damaging	1.00
R3835:St6galnac1	UTSW	11	116,657,109 (GRCm39)	missense	probably damaging	1.00
R5016:St6galnac1	UTSW	11	116,656,706 (GRCm39)	missense	probably damaging	1.00
R5446:St6galnac1	UTSW	11	116,657,095 (GRCm39)	missense	probably benign	0.37
R6625:St6galnac1	UTSW	11	116,656,717 (GRCm39)	missense	probably damaging	1.00
R6805:St6galnac1	UTSW	11	116,659,770 (GRCm39)	missense	probably damaging	1.00
R7007:St6galnac1	UTSW	11	116,657,833 (GRCm39)	nonsense	probably null
R7133:St6galnac1	UTSW	11	116,657,899 (GRCm39)	missense	possibly damaging	0.89
R7491:St6galnac1	UTSW	11	116,660,010 (GRCm39)	missense	probably benign	0.14
R7724:St6galnac1	UTSW	11	116,656,898 (GRCm39)	critical splice donor site	probably null
R7812:St6galnac1	UTSW	11	116,659,927 (GRCm39)	missense	probably benign	0.16
R8160:St6galnac1	UTSW	11	116,666,316 (GRCm39)	start gained	probably benign
R8341:St6galnac1	UTSW	11	116,659,714 (GRCm39)	missense	probably benign	0.00
R8373:St6galnac1	UTSW	11	116,660,059 (GRCm39)	missense	possibly damaging	0.62
R8379:St6galnac1	UTSW	11	116,666,325 (GRCm39)	start gained	probably benign
R8524:St6galnac1	UTSW	11	116,658,547 (GRCm39)	missense	possibly damaging	0.69
Z1177:St6galnac1	UTSW	11	116,666,254 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CACACCTTTCTGAGTTGTCCAGACC -3'
(R):5'- AAGACGCCTGTGTCAGAACACC -3'

Sequencing Primer
(F):5'- GAGTTGTCCAGACCTTAATCCTG -3'
(R):5'- TGTGTCAGAACACCTGGAC -3'

Posted On

2013-08-08