Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:St6galnac1'

239467

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

040214-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116765025-116775507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116765856 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 486 (W486R)

Ref Sequence

ENSEMBL: ENSMUSP00000009732 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000009732
AA Change: W486R

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

SMART Domains

Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: W486R

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

Meta Mutation Damage Score

0.1900

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in St6galnac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:St6galnac1	APN	11	116767706	missense	probably damaging	1.00
IGL01451:St6galnac1	APN	11	116769339	missense	probably benign	0.00
IGL01873:St6galnac1	APN	11	116766611	missense	probably damaging	0.98
IGL02569:St6galnac1	APN	11	116767702	missense	probably damaging	1.00
IGL02799:St6galnac1	APN	11	116766647	splice site	probably benign
IGL02935:St6galnac1	APN	11	116769345	missense	probably benign
IGL03124:St6galnac1	APN	11	116775299	missense	probably benign	0.00
PIT4520001:St6galnac1	UTSW	11	116769349	missense	probably benign	0.00
R0126:St6galnac1	UTSW	11	116766584	missense	probably benign	0.00
R0363:St6galnac1	UTSW	11	116768930	missense	probably benign	0.36
R0394:St6galnac1	UTSW	11	116766640	missense	probably damaging	0.99
R0828:St6galnac1	UTSW	11	116768997	missense	probably benign	0.05
R1569:St6galnac1	UTSW	11	116769271	missense	possibly damaging	0.46
R1570:St6galnac1	UTSW	11	116766648	splice site	probably benign
R1591:St6galnac1	UTSW	11	116765863	missense	probably damaging	1.00
R1602:St6galnac1	UTSW	11	116769287	missense	probably benign	0.00
R2088:St6galnac1	UTSW	11	116769107	missense	probably benign	0.00
R2266:St6galnac1	UTSW	11	116767847	nonsense	probably null
R3413:St6galnac1	UTSW	11	116765856	missense	probably damaging	1.00
R3835:St6galnac1	UTSW	11	116766283	missense	probably damaging	1.00
R5016:St6galnac1	UTSW	11	116765880	missense	probably damaging	1.00
R5446:St6galnac1	UTSW	11	116766269	missense	probably benign	0.37
R6625:St6galnac1	UTSW	11	116765891	missense	probably damaging	1.00
R6805:St6galnac1	UTSW	11	116768944	missense	probably damaging	1.00
R7007:St6galnac1	UTSW	11	116767007	nonsense	probably null
R7133:St6galnac1	UTSW	11	116767073	missense	possibly damaging	0.89
R7491:St6galnac1	UTSW	11	116769184	missense	probably benign	0.14
R7724:St6galnac1	UTSW	11	116766072	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTTGCATTCTGTGTTGTAAG -3'
(R):5'- AAGGTGAGCCTGCAAACCTC -3'

Sequencing Primer
(F):5'- TTGTAAGTGGTCGAGGGGAAC -3'
(R):5'- GTGAGCCTGCAAACCTCTGATAG -3'

Posted On

2014-10-15