Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:St6gal2'

519578

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

044591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6455 (G1)

Quality Score

133.008

Status

Validated

Chromosome

Chromosomal Location

55752383-55821582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55789514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 183 (Y183N)

Ref Sequence

ENSEMBL: ENSMUSP00000120762 (fasta)

Gene Model

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

AlphaFold

Q76K27

Predicted Effect

probably benign
Transcript: ENSMUST00000025000
AA Change: Y183N

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

SMART Domains

Protein: ENSMUSP00000025000
Gene: ENSMUSG00000024172
AA Change: Y183N

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
AA Change: Y183N

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

SMART Domains

Protein: ENSMUSP00000084091
Gene: ENSMUSG00000024172
AA Change: Y183N

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: Y183N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000120762
Gene: ENSMUSG00000024172
AA Change: Y183N

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,042,376 (GRCm39)	R1899G	probably damaging	Het
Abca6	C	T	11: 110,132,407 (GRCm39)	G296D	probably damaging	Het
Abcb5	A	T	12: 118,854,284 (GRCm39)		probably null	Het
Adam28	T	G	14: 68,870,657 (GRCm39)	T339P	probably damaging	Het
Adam34l	T	A	8: 44,079,189 (GRCm39)	H345L	probably damaging	Het
Adcy10	C	G	1: 165,345,943 (GRCm39)	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,160,196 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,673,639 (GRCm39)	I3078N	probably damaging	Het
Amtn	A	T	5: 88,528,139 (GRCm39)	N71Y	probably damaging	Het
Arhgef18	A	T	8: 3,438,753 (GRCm39)	Y370F	probably benign	Het
Arid4a	T	C	12: 71,121,862 (GRCm39)	S748P	probably benign	Het
Atp2b1	C	A	10: 98,852,842 (GRCm39)	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,830 (GRCm39)	D123G	probably benign	Het
Capn15	A	G	17: 26,184,410 (GRCm39)	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,896,754 (GRCm39)	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 129,559,091 (GRCm39)	V1174M	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Ceacam3	T	C	7: 16,895,863 (GRCm39)	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,397,180 (GRCm39)	D370N	possibly damaging	Het
Dlg2	C	A	7: 92,093,716 (GRCm39)		probably null	Het
Dll4	A	T	2: 119,164,276 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,058,108 (GRCm39)	S137P	probably benign	Het
Epn2	A	T	11: 61,424,467 (GRCm39)	M250K	probably damaging	Het
Fat2	T	A	11: 55,161,283 (GRCm39)	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,761,812 (GRCm39)	S341F	probably benign	Het
Gm5141	A	T	13: 62,922,597 (GRCm39)	C191S	probably damaging	Het
Gm5150	C	T	3: 16,044,815 (GRCm39)	G137S	probably damaging	Het
Gpr75	C	T	11: 30,841,529 (GRCm39)	R145W	probably damaging	Het
Heatr5b	G	A	17: 79,060,502 (GRCm39)	H2058Y	probably benign	Het
Ina	G	A	19: 47,012,000 (GRCm39)	E473K	probably benign	Het
Irx6	T	C	8: 93,402,700 (GRCm39)	S22P	probably benign	Het
Itpr1	T	A	6: 108,394,933 (GRCm39)	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,061,795 (GRCm39)	S1383T	probably benign	Het
Lclat1	T	A	17: 73,468,828 (GRCm39)	S3T	probably damaging	Het
Llgl1	G	A	11: 60,600,486 (GRCm39)	V612M	probably damaging	Het
Mios	A	G	6: 8,231,239 (GRCm39)	R708G	probably benign	Het
Mphosph8	T	C	14: 56,925,943 (GRCm39)	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,113,893 (GRCm39)	N254Y	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Myog	G	A	1: 134,218,226 (GRCm39)	D145N	probably benign	Het
Nat10	T	A	2: 103,570,231 (GRCm39)	I371F	possibly damaging	Het
Neb	A	T	2: 52,057,656 (GRCm39)	Y229*	probably null	Het
Nlrp6	T	A	7: 140,507,422 (GRCm39)	I896K	possibly damaging	Het
Or11g7	A	T	14: 50,691,042 (GRCm39)	I178L	possibly damaging	Het
Or52p2	G	A	7: 102,237,878 (GRCm39)	A24V	probably benign	Het
Or5an11	T	C	19: 12,246,070 (GRCm39)	S159P	probably damaging	Het
Pate5	T	A	9: 35,755,351 (GRCm39)	K3*	probably null	Het
Pcdhgc5	A	C	18: 37,954,301 (GRCm39)	E525A	probably damaging	Het
Pira1	T	A	7: 3,741,930 (GRCm39)	Y150F	probably benign	Het
Pkd2	C	A	5: 104,607,790 (GRCm39)	D96E	probably benign	Het
Prtg	A	G	9: 72,815,138 (GRCm39)	D1022G	probably damaging	Het
Ptpn13	T	C	5: 103,689,150 (GRCm39)	M981T	probably benign	Het
Rc3h2	C	A	2: 37,299,482 (GRCm39)	A183S	probably damaging	Het
Rorb	A	T	19: 18,937,856 (GRCm39)	I270N	probably damaging	Het
Rpgrip1	C	T	14: 52,378,646 (GRCm39)	R524W	probably damaging	Het
Slc25a10	T	C	11: 120,386,031 (GRCm39)	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,958,107 (GRCm39)	I109F	probably damaging	Het
Spen	G	A	4: 141,202,820 (GRCm39)	R1936W	probably damaging	Het
Svil	A	G	18: 5,056,629 (GRCm39)	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,688,626 (GRCm39)	W89*	probably null	Het
Tbxas1	T	A	6: 38,929,079 (GRCm39)		probably benign	Het
Tia1	T	A	6: 86,397,360 (GRCm39)	I111N	probably damaging	Het
Tlr9	T	A	9: 106,101,198 (GRCm39)	L163H	probably damaging	Het
Tnn	C	T	1: 159,942,289 (GRCm39)	V806M	probably damaging	Het
Traf5	G	A	1: 191,731,887 (GRCm39)	A318V	probably benign	Het
Ttc3	T	A	16: 94,219,482 (GRCm39)	M1K	probably null	Het
Utp25	G	T	1: 192,810,684 (GRCm39)	D106E	probably benign	Het
Vmn1r192	T	A	13: 22,372,000 (GRCm39)	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,482,331 (GRCm39)	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,686,582 (GRCm39)	N372Y	probably damaging	Het
Wbp2	A	T	11: 115,970,579 (GRCm39)	S229R	probably damaging	Het
Wdr18	C	T	10: 79,801,115 (GRCm39)	T176I	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
R6034:St6gal2	UTSW	17	55,789,982 (GRCm39)	missense	probably benign
R6356:St6gal2	UTSW	17	55,789,014 (GRCm39)	missense	probably damaging	1.00
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'- CCCCAAATGGCTTTGACAATGG -3'
(R):5'- CCCTGTACGTGTAGCTTCAC -3'

Sequencing Primer
(F):5'- AAGCGCTTTCTATCCCGAGGAAG -3'
(R):5'- TGTAGCTTCACGCCGACC -3'

Posted On

2018-05-24