Mutagenetix > Incidental Mutation

Incidental Mutation 'R4512:St6gal2'

331296

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

041587-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55752383-55821582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55790018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 351 (N351Y)

Ref Sequence

ENSEMBL: ENSMUSP00000120762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025000] [ENSMUST00000086878] [ENSMUST00000133899]

AlphaFold

Q76K27

Predicted Effect

probably benign
Transcript: ENSMUST00000025000

SMART Domains

Protein: ENSMUSP00000025000
Gene: ENSMUSG00000024172

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

Predicted Effect

probably benign
Transcript: ENSMUST00000086878

SMART Domains

Protein: ENSMUSP00000084091
Gene: ENSMUSG00000024172

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
Pfam:Glyco_transf_29	234	438	9.1e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133899
AA Change: N351Y

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120762
Gene: ENSMUSG00000024172
AA Change: N351Y

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
Pfam:Glyco_transf_29	207	316	5.1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153220

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (67/68)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,978,573 (GRCm39)	D573V	probably damaging	Het
Adgrg5	T	C	8: 95,660,652 (GRCm39)	V93A	possibly damaging	Het
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alpk1	T	C	3: 127,478,120 (GRCm39)		probably benign	Het
Aopep	A	T	13: 63,304,481 (GRCm39)	T497S	probably damaging	Het
Atp6v1h	T	C	1: 5,168,358 (GRCm39)		probably null	Het
Aup1	C	T	6: 83,033,368 (GRCm39)	R248*	probably null	Het
BC016579	C	A	16: 45,453,363 (GRCm39)	A151S	possibly damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chsy3	A	G	18: 59,543,259 (GRCm39)	D799G	probably damaging	Het
Dnah6	G	A	6: 73,155,399 (GRCm39)	R739W	probably damaging	Het
Dync2h1	A	T	9: 7,085,009 (GRCm39)	C553*	probably null	Het
Fhl4	A	G	10: 84,934,578 (GRCm39)	S68P	possibly damaging	Het
Gcc1	T	C	6: 28,419,208 (GRCm39)	E375G	probably benign	Het
Gm10110	A	G	14: 90,135,151 (GRCm39)		noncoding transcript	Het
Hspbap1	C	T	16: 35,607,611 (GRCm39)	S39F	probably damaging	Het
Lmln	G	A	16: 32,908,507 (GRCm39)	R311Q	probably benign	Het
Ly6e	T	A	15: 74,829,682 (GRCm39)	V24D	probably damaging	Het
Magi3	T	C	3: 103,996,871 (GRCm39)	T225A	probably damaging	Het
Mark1	C	A	1: 184,639,286 (GRCm39)	R577L	probably benign	Het
Mlxip	G	T	5: 123,533,128 (GRCm39)	V46L	probably benign	Het
Mrpl40	T	C	16: 18,691,308 (GRCm39)	D134G	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nalcn	T	C	14: 123,532,860 (GRCm39)	Y1300C	probably damaging	Het
Nav3	T	C	10: 109,529,943 (GRCm39)	I2133V	possibly damaging	Het
Ndst3	T	C	3: 123,465,315 (GRCm39)	D219G	probably damaging	Het
Nfkbie	C	T	17: 45,867,165 (GRCm39)	S100L	probably benign	Het
Oard1	A	G	17: 48,723,788 (GRCm39)	I145V	probably benign	Het
Odf2	C	T	2: 29,816,109 (GRCm39)		probably null	Het
Oplah	A	G	15: 76,182,155 (GRCm39)	L1035P	probably damaging	Het
Or4n4b	C	A	14: 50,536,453 (GRCm39)	L104F	probably damaging	Het
Or51t4	T	C	7: 102,597,945 (GRCm39)	L81P	probably damaging	Het
Or5m3b	T	C	2: 85,871,913 (GRCm39)	S85P	probably damaging	Het
Otud7a	T	C	7: 63,379,625 (GRCm39)	F284L	probably benign	Het
Parg	T	C	14: 31,984,693 (GRCm39)	V241A	probably damaging	Het
Pla2g4a	T	A	1: 149,736,802 (GRCm39)		probably null	Het
Psd4	C	T	2: 24,292,901 (GRCm39)	R684C	probably damaging	Het
Pttg1ip	T	C	10: 77,432,902 (GRCm39)		probably benign	Het
R3hcc1	A	G	14: 69,936,060 (GRCm39)	S250P	probably damaging	Het
Rere	T	A	4: 150,561,909 (GRCm39)	Y272N	unknown	Het
Selplg	A	G	5: 113,957,124 (GRCm39)	V394A	probably benign	Het
Senp7	T	G	16: 55,986,246 (GRCm39)	F559V	probably damaging	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Smim3	A	T	18: 60,608,556 (GRCm39)	V32D	probably damaging	Het
Spsb3	A	G	17: 25,109,270 (GRCm39)	D47G	probably damaging	Het
Stk11	T	C	10: 79,962,211 (GRCm39)		probably benign	Het
Susd1	A	T	4: 59,329,491 (GRCm39)	L646Q	possibly damaging	Het
Tmprss11a	A	G	5: 86,576,437 (GRCm39)	V138A	probably benign	Het
Ttn	C	A	2: 76,728,969 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,580,814 (GRCm39)	K15033E	probably damaging	Het
Tyrp1	G	T	4: 80,755,749 (GRCm39)	D173Y	probably damaging	Het
Uncx	A	G	5: 139,532,522 (GRCm39)	I196V	possibly damaging	Het
Vamp4	A	T	1: 162,405,457 (GRCm39)	D28V	possibly damaging	Het
Vmn2r78	C	T	7: 86,569,452 (GRCm39)	S115F	probably benign	Het
Zeb1	G	A	18: 5,759,007 (GRCm39)	C138Y	probably damaging	Het
Zfp985	G	A	4: 147,668,020 (GRCm39)	C296Y	probably damaging	Het

Other mutations in St6gal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02689:St6gal2	APN	17	55,789,596 (GRCm39)	missense	probably damaging	1.00
R0496:St6gal2	UTSW	17	55,789,015 (GRCm39)	missense	probably damaging	0.96
R0652:St6gal2	UTSW	17	55,805,290 (GRCm39)	missense	probably benign
R1456:St6gal2	UTSW	17	55,797,932 (GRCm39)	splice site	probably benign
R1470:St6gal2	UTSW	17	55,797,944 (GRCm39)	missense	probably damaging	1.00
R1470:St6gal2	UTSW	17	55,797,944 (GRCm39)	missense	probably damaging	1.00
R1676:St6gal2	UTSW	17	55,803,396 (GRCm39)	critical splice donor site	probably null
R2092:St6gal2	UTSW	17	55,817,267 (GRCm39)	missense	probably damaging	1.00
R3120:St6gal2	UTSW	17	55,789,111 (GRCm39)	missense	probably benign	0.00
R3875:St6gal2	UTSW	17	55,789,698 (GRCm39)	missense	probably benign	0.02
R3928:St6gal2	UTSW	17	55,803,324 (GRCm39)	missense	possibly damaging	0.92
R3929:St6gal2	UTSW	17	55,803,324 (GRCm39)	missense	possibly damaging	0.92
R4513:St6gal2	UTSW	17	55,790,018 (GRCm39)	missense	probably benign	0.09
R4514:St6gal2	UTSW	17	55,790,018 (GRCm39)	missense	probably benign	0.09
R4564:St6gal2	UTSW	17	55,789,648 (GRCm39)	missense	probably damaging	1.00
R4701:St6gal2	UTSW	17	55,803,345 (GRCm39)	missense	probably damaging	1.00
R4716:St6gal2	UTSW	17	55,817,367 (GRCm39)	missense	probably benign	0.01
R6034:St6gal2	UTSW	17	55,789,982 (GRCm39)	missense	probably benign
R6034:St6gal2	UTSW	17	55,789,982 (GRCm39)	missense	probably benign
R6356:St6gal2	UTSW	17	55,789,014 (GRCm39)	missense	probably damaging	1.00
R6455:St6gal2	UTSW	17	55,789,514 (GRCm39)	missense	probably benign	0.01
R8221:St6gal2	UTSW	17	55,797,935 (GRCm39)	splice site	probably null
Z1177:St6gal2	UTSW	17	55,789,898 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGTACCTCTGAGCCAGTTGC -3'
(R):5'- AGGAACGGTTTTCAGTAGCAGC -3'

Sequencing Primer
(F):5'- CAGCTGCGCAGTTGTCATGTC -3'
(R):5'- GTTTTCAGTAGCAGCCAAGC -3'

Posted On

2015-07-21