Mutagenetix > Incidental Mutation

Incidental Mutation 'R3928:St6gal2'

308392

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

040823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55752383-55821582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55803324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 353 (D353G)

Ref Sequence

ENSEMBL: ENSMUSP00000084091 (fasta)

Gene Model

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

AlphaFold

Q76K27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025000
AA Change: D353G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025000
Gene: ENSMUSG00000024172
AA Change: D353G

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

possibly damaging
Transcript: ENSMUST00000086878
AA Change: D353G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084091
Gene: ENSMUSG00000024172
AA Change: D353G

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

Meta Mutation Damage Score

0.0783

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	T	11: 76,359,561 (GRCm39)	H181Q	probably benign	Het
Atrx	T	C	X: 104,923,523 (GRCm39)	I157V	possibly damaging	Het
Birc6	A	G	17: 74,918,170 (GRCm39)	D1856G	possibly damaging	Het
Birc6	A	G	17: 74,945,404 (GRCm39)	T2811A	probably damaging	Het
Brsk2	T	C	7: 141,552,155 (GRCm39)	F108S	probably damaging	Het
Clasp2	C	A	9: 113,735,173 (GRCm39)	H1004N	probably benign	Het
Cntd1	G	A	11: 101,178,345 (GRCm39)	V315I	probably benign	Het
Col13a1	A	G	10: 61,703,304 (GRCm39)		probably benign	Het
Ctps1	T	A	4: 120,399,093 (GRCm39)	H553L	probably benign	Het
Dpysl2	A	G	14: 67,061,880 (GRCm39)	I242T	possibly damaging	Het
Exoc3l	C	T	8: 106,017,549 (GRCm39)		probably benign	Het
Fam229a	A	G	4: 129,385,204 (GRCm39)		probably benign	Het
Fshr	C	T	17: 89,292,962 (GRCm39)	R572H	probably damaging	Het
Gm5501	A	G	18: 9,917,267 (GRCm39)		noncoding transcript	Het
Gmpr	A	G	13: 45,683,223 (GRCm39)	I165V	probably benign	Het
Gnat3	G	A	5: 18,208,892 (GRCm39)		probably benign	Het
H1f8	A	G	6: 115,925,757 (GRCm39)	K185E	probably benign	Het
H2-Q4	T	G	17: 35,598,666 (GRCm39)	L16R	unknown	Het
Hs2st1	T	C	3: 144,140,389 (GRCm39)	K311E	possibly damaging	Het
Kcnj15	A	G	16: 95,097,368 (GRCm39)	E330G	possibly damaging	Het
Kif3a	A	G	11: 53,461,441 (GRCm39)	K29E	probably benign	Het
Krtap4-1	A	G	11: 99,518,983 (GRCm39)	V9A	unknown	Het
Lmntd2	C	T	7: 140,791,117 (GRCm39)	G432S	probably damaging	Het
Me3	T	C	7: 89,482,898 (GRCm39)		probably benign	Het
Myo1d	G	T	11: 80,375,087 (GRCm39)	R996S	probably benign	Het
Myo9a	T	A	9: 59,802,566 (GRCm39)	W2018R	probably damaging	Het
Nphp3	G	T	9: 103,888,929 (GRCm39)	V265F	probably damaging	Het
Or10ak9	T	C	4: 118,726,179 (GRCm39)	L66P	probably damaging	Het
Or5p67	A	G	7: 107,922,232 (GRCm39)	I217T	probably benign	Het
Or8c16	T	C	9: 38,130,131 (GRCm39)	M1T	probably null	Het
Pgp	A	G	17: 24,690,315 (GRCm39)	E247G	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plch1	G	A	3: 63,675,044 (GRCm39)	A202V	probably damaging	Het
Rbm11	G	A	16: 75,389,932 (GRCm39)		probably null	Het
Scg5	T	C	2: 113,622,230 (GRCm39)	K124R	probably damaging	Het
Serpina3j	A	T	12: 104,285,916 (GRCm39)	H357L	probably damaging	Het
Tdpoz3	T	C	3: 93,734,216 (GRCm39)	I297T	possibly damaging	Het
Tdrd5	G	A	1: 156,128,348 (GRCm39)	T136I	probably benign	Het
Tfcp2l1	T	A	1: 118,597,206 (GRCm39)	I429K	possibly damaging	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Top1	T	C	2: 160,529,669 (GRCm39)		probably benign	Het
Trim61	A	G	8: 65,465,969 (GRCm39)	F431L	probably benign	Het
Trmo	C	T	4: 46,382,647 (GRCm39)	G150S	probably damaging	Het
Vmn1r183	T	C	7: 23,754,997 (GRCm39)	S267P	probably damaging	Het
Xirp2	T	A	2: 67,342,013 (GRCm39)	F1418Y	possibly damaging	Het
Zfp114	T	C	7: 23,880,467 (GRCm39)	V271A	possibly damaging	Het
Zfp710	A	G	7: 79,731,134 (GRCm39)	R104G	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
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
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'- ACACCCTTGATGCAGTTCTGG -3'
(R):5'- ACACAGGTGAGTTTGTGCCTATC -3'

Sequencing Primer
(F):5'- CCTTGATGCAGTTCTGGTAAAAATGG -3'
(R):5'- AGTTTGTGCCTATCAGTGACC -3'

Posted On

2015-04-17