Mutagenetix > Incidental Mutations

Incidental Mutation 'R0394:St6galnac1'

31882

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

038600-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116765025-116775507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116766640 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 366 (D366G)

Ref Sequence

ENSEMBL: ENSMUSP00000009732 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000009732
AA Change: D366G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: D366G

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

0.4516

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 138,067,304	S751R	probably damaging	Het
4933417A18Rik	T	C	13: 34,932,653		probably benign	Het
Abca8a	A	G	11: 110,026,343	V1610A	probably damaging	Het
Actl10	A	T	2: 154,553,037	H202L	probably benign	Het
Alox12	A	T	11: 70,245,935	V489E	probably damaging	Het
Ap4m1	T	A	5: 138,172,203	F5I	probably benign	Het
Atn1	T	C	6: 124,749,733		probably benign	Het
Atrnl1	T	A	19: 57,673,176	N529K	probably benign	Het
B3gntl1	C	T	11: 121,619,715	G336D	probably damaging	Het
Bmp1	G	A	14: 70,490,034	A703V	probably damaging	Het
Brat1	T	G	5: 140,718,386	L798R	probably damaging	Het
Cacna1c	C	T	6: 118,625,497	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,958,731	D190E	probably benign	Het
Cenpe	T	C	3: 135,216,425		probably benign	Het
Clstn1	A	G	4: 149,644,178	D687G	probably benign	Het
Coro1a	A	G	7: 126,700,640	F337L	probably benign	Het
Ddx49	T	A	8: 70,296,925	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,522,812	D273V	possibly damaging	Het
Derl2	A	T	11: 71,014,561	F32I	probably benign	Het
Dmrta1	A	G	4: 89,692,039	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,333,750	N559S	probably damaging	Het
Dusp26	G	T	8: 31,091,959	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,885,218	I492T	probably benign	Het
Exoc7	G	T	11: 116,300,398	Q219K	probably damaging	Het
F2r	T	C	13: 95,604,476	T184A	probably damaging	Het
Fbf1	G	A	11: 116,152,462		probably benign	Het
Fbxo28	A	G	1: 182,317,015	M328T	probably benign	Het
Fsip2	T	A	2: 82,991,075	D5717E	possibly damaging	Het
Gnpat	C	A	8: 124,880,225	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,875,579		probably benign	Het
Greb1l	T	C	18: 10,523,374	V844A	probably damaging	Het
Hps1	G	T	19: 42,770,899		probably null	Het
Inppl1	G	T	7: 101,828,195		probably benign	Het
Isca1	C	T	13: 59,758,885		probably null	Het
Itgb2	T	A	10: 77,542,475	C46S	probably damaging	Het
Kifc5b	C	T	17: 26,923,082	T178M	probably benign	Het
Krt80	T	C	15: 101,352,299	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,668,741	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,806,424		probably benign	Het
Mettl18	A	G	1: 163,996,341	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,950,168	L336P	probably benign	Het
Mgat4b	A	G	11: 50,230,919		probably null	Het
Mtmr14	C	T	6: 113,280,688	R233*	probably null	Het
Nbea	T	C	3: 56,029,907	Y761C	probably damaging	Het
Neb	A	T	2: 52,177,559		probably null	Het
Nup85	T	G	11: 115,564,531	M1R	probably null	Het
Olfr814	T	A	10: 129,873,942	I272L	probably benign	Het
Oxr1	T	A	15: 41,817,197	M177K	probably damaging	Het
Pgm2l1	A	G	7: 100,252,198	Y98C	probably damaging	Het
Pi4kb	G	T	3: 94,996,804		probably benign	Het
Pi4kb	G	A	3: 94,996,805		probably benign	Het
Pirb	T	A	7: 3,719,248	S199C	probably benign	Het
Prss23	A	C	7: 89,509,847	I338S	probably damaging	Het
Rapgef3	A	T	15: 97,757,819		probably benign	Het
Rdh7	T	A	10: 127,884,670	T278S	probably benign	Het
Rnf219	T	C	14: 104,478,853	R695G	possibly damaging	Het
Rrp1b	A	G	17: 32,058,564	D606G	probably benign	Het
Rxfp1	T	A	3: 79,652,377	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 150,067,388	V514A	probably benign	Het
Scel	A	T	14: 103,562,518	E202V	probably benign	Het
Slc25a36	G	A	9: 97,080,204	A244V	probably benign	Het
Slc2a13	T	G	15: 91,516,392	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,352,530	N456S	probably benign	Het
Slc6a12	G	T	6: 121,346,998		probably null	Het
Spag6l	T	C	16: 16,780,629	I333V	probably benign	Het
Spen	G	A	4: 141,474,203	A2371V	probably benign	Het
Stk33	T	C	7: 109,341,489	S5G	probably benign	Het
Tle2	T	C	10: 81,577,648	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,226,652	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556		probably null	Het
Trmt13	A	G	3: 116,582,650	F364S	probably damaging	Het
Unkl	T	A	17: 25,230,777		probably null	Het
Uvrag	A	G	7: 99,004,719		probably benign	Het
Vmn2r8	T	A	5: 108,802,072	N303I	probably benign	Het
Vsig10l	A	G	7: 43,465,455	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,600,920	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,883,262	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,886,065	Y174*	probably null	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
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
R2212:St6galnac1	UTSW	11	116765856	missense	probably damaging	1.00
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
R7812:St6galnac1	UTSW	11	116769101	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TCGATCCAAGTCCAAGGCATTCCG -3'
(R):5'- AAGCTCTGTTCACATGAGGGCAAG -3'

Sequencing Primer
(F):5'- AGGCCAAGTTATGGTCACTG -3'
(R):5'- TTCACATGAGGGCAAGAGCAG -3'

Posted On

2013-04-24