Mutagenetix > Incidental Mutations

Incidental Mutation 'R2092:St6gal2'

231881

Institutional Source

Beutler Lab

Gene Symbol

St6gal2

Ensembl Gene

ENSMUSG00000024172

Gene Name

beta galactoside alpha 2,6 sialyltransferase 2

Synonyms

ST6Gal II, C230064G14Rik

MMRRC Submission

040097-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55445382-55514581 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55510266 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 477 (Y477H)

Ref Sequence

ENSEMBL: ENSMUSP00000025000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025000]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025000
AA Change: Y477H

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

SMART Domains

Protein: ENSMUSP00000025000
Gene: ENSMUSG00000024172
AA Change: Y477H

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
low complexity region	251	257	N/A	INTRINSIC
Pfam:Glyco_transf_29	272	501	3.7e-37	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,674,937	C1321*	probably null	Het
Abca8b	A	G	11: 109,966,708	F673L	possibly damaging	Het
Adam19	T	G	11: 46,060,904		probably null	Het
AI987944	T	C	7: 41,374,617	T313A	possibly damaging	Het
Akap13	A	T	7: 75,610,570	I178F	probably benign	Het
Alb	G	GA	5: 90,463,983		probably null	Het
Bod1l	A	G	5: 41,831,517	S416P	probably damaging	Het
Casr	A	T	16: 36,510,043	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,404,426	N152S	probably benign	Het
Chrdl2	T	A	7: 100,020,977	C102*	probably null	Het
Col4a4	G	A	1: 82,498,946	S554L	unknown	Het
Col6a4	T	C	9: 106,060,331	K1392R	probably damaging	Het
Dab1	T	G	4: 104,678,777	Y128D	probably damaging	Het
Dars	A	T	1: 128,374,018	M293K	probably damaging	Het
Dlec1	T	C	9: 119,121,844	F493L	possibly damaging	Het
Dmbt1	G	T	7: 131,050,018	W330L	probably damaging	Het
Dnah11	A	T	12: 118,012,716	M831K	possibly damaging	Het
Dock7	T	C	4: 99,009,308	N715S	possibly damaging	Het
Edc4	T	A	8: 105,887,528	L12Q	probably damaging	Het
Edem2	T	C	2: 155,709,049	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Fto	C	A	8: 91,409,687	Y194*	probably null	Het
Gnptab	T	G	10: 88,440,305	Y1151*	probably null	Het
Grm1	A	G	10: 10,689,225	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,127,800	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,969,514	D70G	probably damaging	Het
Irx4	C	A	13: 73,265,486	T25K	probably damaging	Het
Kif22	C	T	7: 127,033,630	D195N	probably damaging	Het
Lrp2	C	T	2: 69,536,021	D245N	probably benign	Het
Lyz1	C	T	10: 117,288,599	R144Q	probably benign	Het
Macf1	T	A	4: 123,383,178	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
Myh9	G	A	15: 77,764,350	Q80*	probably null	Het
Myo6	G	T	9: 80,245,682	R199L	probably damaging	Het
Naglu	G	A	11: 101,076,720	V499I	possibly damaging	Het
Nfkbie	T	C	17: 45,558,539	F140S	probably benign	Het
Olfr1208	A	G	2: 88,897,267	F110S	probably damaging	Het
Olfr1454	T	A	19: 13,063,802	Y130*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr598	G	A	7: 103,329,109	V208M	probably damaging	Het
Olfr67	A	T	7: 103,788,072	F68L	possibly damaging	Het
Olfr935	A	T	9: 38,995,189	L82Q	probably damaging	Het
Otop1	A	T	5: 38,299,766	I290F	probably damaging	Het
P2rx2	C	T	5: 110,341,141	D203N	probably damaging	Het
Pcdhb10	T	A	18: 37,414,187	I772N	probably benign	Het
Pnliprp1	A	G	19: 58,741,184	H423R	probably benign	Het
Ptk2	A	T	15: 73,236,191	Y56*	probably null	Het
Rapgef3	T	C	15: 97,760,723	D134G	probably damaging	Het
Scaf11	A	C	15: 96,415,827	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,533,376	M844V	probably damaging	Het
Sh3tc1	T	C	5: 35,700,658	E1121G	probably damaging	Het
Slc25a15	T	C	8: 22,380,934	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,718,855	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,909,454	D555E	probably benign	Het
Smc5	T	C	19: 23,238,899	I446V	probably benign	Het
Syngr1	A	T	15: 80,115,940	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,157,720	L187P	probably damaging	Het
Tg	A	G	15: 66,849,607	I322V	probably null	Het
Thap12	T	C	7: 98,716,449	V608A	possibly damaging	Het
Tmbim6	T	C	15: 99,402,068	S22P	probably damaging	Het
Ttc3	C	T	16: 94,442,832	P1232S	probably benign	Het
Upk3a	A	G	15: 85,018,085	T38A	probably damaging	Het
Utrn	A	T	10: 12,678,698	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,835,153	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,354,715	T35A	possibly damaging	Het
Xkr7	C	T	2: 153,054,063	S279L	probably damaging	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp641	G	T	15: 98,293,712	T31N	probably benign	Het
Zfp74	G	A	7: 29,953,924		probably benign	Het

Other mutations in St6gal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02689:St6gal2	APN	17	55482595	missense	probably damaging	1.00
R0496:St6gal2	UTSW	17	55482014	missense	probably damaging	0.96
R0652:St6gal2	UTSW	17	55498289	missense	probably benign
R1456:St6gal2	UTSW	17	55490931	splice site	probably benign
R1470:St6gal2	UTSW	17	55490943	missense	probably damaging	1.00
R1470:St6gal2	UTSW	17	55490943	missense	probably damaging	1.00
R1676:St6gal2	UTSW	17	55496395	critical splice donor site	probably null
R3120:St6gal2	UTSW	17	55482110	missense	probably benign	0.00
R3875:St6gal2	UTSW	17	55482697	missense	probably benign	0.02
R3928:St6gal2	UTSW	17	55496323	missense	possibly damaging	0.92
R3929:St6gal2	UTSW	17	55496323	missense	possibly damaging	0.92
R4512:St6gal2	UTSW	17	55483017	missense	probably benign	0.09
R4513:St6gal2	UTSW	17	55483017	missense	probably benign	0.09
R4514:St6gal2	UTSW	17	55483017	missense	probably benign	0.09
R4564:St6gal2	UTSW	17	55482647	missense	probably damaging	1.00
R4701:St6gal2	UTSW	17	55496344	missense	probably damaging	1.00
R4716:St6gal2	UTSW	17	55510366	missense	probably benign	0.01
R6034:St6gal2	UTSW	17	55482981	missense	probably benign
R6034:St6gal2	UTSW	17	55482981	missense	probably benign
R6356:St6gal2	UTSW	17	55482013	missense	probably damaging	1.00
R6455:St6gal2	UTSW	17	55482513	missense	probably benign	0.01
Z1177:St6gal2	UTSW	17	55482897	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TCGTTCCTGTAAGTCACCAC -3'
(R):5'- CACATCAGTTCCCAAGAGTTCC -3'

Sequencing Primer
(F):5'- TGTAAGTCACCACTATTCTAGGACC -3'
(R):5'- CCCAAGAGTTCCATTTTAAGAGTGTG -3'

Posted On

2014-09-18