Mutagenetix > Incidental Mutation

Incidental Mutation 'R6034:St6gal2'

486467

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

044206-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6034 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55752383-55821582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55789982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 339 (S339T)

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: S339T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120762
Gene: ENSMUSG00000024172
AA Change: S339T

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (55/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	T	1: 34,760,984 (GRCm39)	G80V	unknown	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Atad2	A	T	15: 57,971,959 (GRCm39)	L306Q	probably damaging	Het
Atp2b4	T	A	1: 133,659,645 (GRCm39)		probably null	Het
Atp6v1c2	C	A	12: 17,357,501 (GRCm39)	G95V	possibly damaging	Het
Birc6	T	A	17: 74,922,278 (GRCm39)	V2192E	probably damaging	Het
Catsperb	A	G	12: 101,542,091 (GRCm39)	E597G	probably benign	Het
Ccdc40	A	G	11: 119,133,898 (GRCm39)	M556V	possibly damaging	Het
Ccin	G	A	4: 43,985,354 (GRCm39)	R587K	probably benign	Het
Cdipt	T	G	7: 126,577,497 (GRCm39)	V81G	probably damaging	Het
Cert1	A	C	13: 96,746,308 (GRCm39)	I236L	probably benign	Het
Cfh	T	C	1: 140,090,869 (GRCm39)	K40E	probably damaging	Het
Cps1	T	A	1: 67,196,872 (GRCm39)		probably null	Het
Dnah7c	A	T	1: 46,496,418 (GRCm39)	D101V	probably benign	Het
Fastkd3	T	A	13: 68,731,729 (GRCm39)	W17R	probably damaging	Het
Gapdh	T	C	6: 125,142,261 (GRCm39)	D25G	probably benign	Het
H1f4	A	G	13: 23,806,296 (GRCm39)	L62P	probably damaging	Het
H2-Ob	T	C	17: 34,460,192 (GRCm39)	V30A	probably damaging	Het
Hmgxb3	T	A	18: 61,265,594 (GRCm39)	H1128L	probably damaging	Het
Hspbp1	A	T	7: 4,680,711 (GRCm39)	I255N	probably damaging	Het
Imp4	A	G	1: 34,482,537 (GRCm39)	D91G	probably damaging	Het
Itprid1	T	A	6: 55,944,666 (GRCm39)	D462E	possibly damaging	Het
Kcnip4	G	T	5: 48,548,283 (GRCm39)	R241S	possibly damaging	Het
Lilra5	T	C	7: 4,245,133 (GRCm39)	L259P	probably benign	Het
Lipf	T	C	19: 33,942,289 (GRCm39)	I73T	probably benign	Het
Lsm7	T	C	10: 80,688,742 (GRCm39)		probably null	Het
Luzp2	T	A	7: 54,816,972 (GRCm39)	L141M	probably damaging	Het
Malrd1	T	A	2: 15,850,137 (GRCm39)	V1252E	possibly damaging	Het
Map10	T	C	8: 126,399,205 (GRCm39)	L866P	probably damaging	Het
Mink1	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 70,497,866 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,460 (GRCm39)	I355V	possibly damaging	Het
Mtrf1l	T	A	10: 5,773,834 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,163,187 (GRCm39)	T339S	probably benign	Het
Naa15	A	G	3: 51,350,242 (GRCm39)	D163G	probably damaging	Het
Oosp2	A	G	19: 11,628,879 (GRCm39)	F74S	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,702 (GRCm39)	Y123F	probably damaging	Het
Pard3	C	G	8: 127,791,077 (GRCm39)		probably benign	Het
Pcdha1	T	A	18: 37,063,651 (GRCm39)	I105N	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,601 (GRCm39)	T224A	possibly damaging	Het
Phf12	A	G	11: 77,908,895 (GRCm39)	N325S	probably benign	Het
Prom1	T	A	5: 44,201,750 (GRCm39)		probably null	Het
Raet1e	A	G	10: 22,057,990 (GRCm39)	*252W	probably null	Het
Sap130	T	C	18: 31,822,459 (GRCm39)	V655A	possibly damaging	Het
Sec16b	A	T	1: 157,380,509 (GRCm39)	K360I	probably damaging	Het
Sec23ip	C	T	7: 128,351,927 (GRCm39)	T101I	possibly damaging	Het
Selenoo	A	G	15: 88,983,546 (GRCm39)	K529R	probably benign	Het
Slc22a15	A	G	3: 101,770,235 (GRCm39)	F451L	possibly damaging	Het
Stard13	A	T	5: 151,018,965 (GRCm39)		probably null	Het
Synm	A	G	7: 67,384,653 (GRCm39)	V561A	probably damaging	Het
Tc2n	A	T	12: 101,617,460 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,229,377 (GRCm39)	D236V	probably damaging	Het
Vmn1r65	A	G	7: 6,011,868 (GRCm39)	L122P	probably damaging	Het
Zc3h14	T	C	12: 98,737,632 (GRCm39)	S40P	probably benign	Het
Zc3hav1l	C	A	6: 38,272,215 (GRCm39)	G185C	probably damaging	Het
Zfp563	G	A	17: 33,323,935 (GRCm39)	A177T	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
R4512:St6gal2	UTSW	17	55,790,018 (GRCm39)	missense	probably benign	0.09
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
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'- TACCTCTGAGCCAGTTGCAC -3'
(R):5'- TCCTAGGAACGGTTTTCAGTAG -3'

Sequencing Primer
(F):5'- ATCCTGAACTCCTCCTTGG -3'
(R):5'- AACGGTTTTCAGTAGCAGCC -3'

Posted On

2017-08-16