Mutagenetix > Incidental Mutation

Incidental Mutation 'R0052:St8sia2'

15329

Institutional Source

Beutler Lab

Gene Symbol

St8sia2

Ensembl Gene

ENSMUSG00000025789

Gene Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2

Synonyms

ST8SiaII, Siat8b

MMRRC Submission

038346-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0052 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73588867-73663408 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 73593038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 339 (Y339*)

Ref Sequence

ENSEMBL: ENSMUSP00000026896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026896]

AlphaFold

O35696

Predicted Effect

probably null
Transcript: ENSMUST00000026896
AA Change: Y339*

SMART Domains

Protein: ENSMUSP00000026896
Gene: ENSMUSG00000025789
AA Change: Y339*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	25	39	N/A	INTRINSIC
Pfam:Glyco_transf_29	109	369	2.7e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205875

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 85.5%
3x: 78.2%
10x: 46.7%
20x: 12.5%

Validation Efficiency

90% (62/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal mossy fiber morphology, increased exploration in new environment and impaired fear responses. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,893,315 (GRCm39)	S438P	possibly damaging	Het
Atosa	A	G	9: 74,926,265 (GRCm39)		probably benign	Het
Atp2a1	A	G	7: 126,057,069 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,528,790 (GRCm39)	L184Q	probably damaging	Het
Bub1	G	A	2: 127,650,959 (GRCm39)	T618I	probably benign	Het
Dsp	A	G	13: 38,381,340 (GRCm39)	D2096G	possibly damaging	Het
Eno4	A	G	19: 58,956,985 (GRCm39)	D357G	probably damaging	Het
Fcrl2	A	T	3: 87,164,085 (GRCm39)	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,580,347 (GRCm39)	S230C	probably damaging	Het
Ginm1	T	A	10: 7,655,070 (GRCm39)	E57D	possibly damaging	Het
Itga9	T	A	9: 118,465,617 (GRCm39)	I157N	probably damaging	Het
Kif21a	T	C	15: 90,855,060 (GRCm39)	E700G	probably damaging	Het
Mmd	C	T	11: 90,150,824 (GRCm39)		probably benign	Het
Morn3	T	C	5: 123,184,726 (GRCm39)	Y38C	probably damaging	Het
Prex2	T	A	1: 11,230,380 (GRCm39)	L802Q	probably damaging	Het
Psd3	A	G	8: 68,335,631 (GRCm39)		probably null	Het
Ralgds	T	A	2: 28,434,400 (GRCm39)		probably null	Het
Rmdn2	A	G	17: 79,957,760 (GRCm39)	E16G	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slco3a1	A	T	7: 74,154,074 (GRCm39)	I166N	probably benign	Het
Snx5	A	T	2: 144,101,112 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,636,732 (GRCm39)	D741G	possibly damaging	Het
Tdo2	T	A	3: 81,874,332 (GRCm39)	N210I	probably benign	Het
Thada	A	T	17: 84,762,586 (GRCm39)	N104K	probably damaging	Het
Timm8b	A	T	9: 50,516,330 (GRCm39)	D61V	possibly damaging	Het
Trbv12-1	T	C	6: 41,090,850 (GRCm39)	F74S	possibly damaging	Het
Tshz1	G	A	18: 84,033,070 (GRCm39)	T446I	possibly damaging	Het
Ubap2l	T	C	3: 89,946,235 (GRCm39)	N123S	possibly damaging	Het
Usp12	A	G	5: 146,675,914 (GRCm39)	V336A	possibly damaging	Het
Xrn2	T	A	2: 146,882,885 (GRCm39)		probably benign	Het
Zfp14	G	T	7: 29,737,753 (GRCm39)	Q411K	probably damaging	Het

Other mutations in St8sia2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02161:St8sia2	APN	7	73,626,430 (GRCm39)	missense	probably benign	0.00
IGL02261:St8sia2	APN	7	73,616,594 (GRCm39)	missense	probably damaging	1.00
IGL02941:St8sia2	APN	7	73,626,397 (GRCm39)	intron	probably benign
IGL02971:St8sia2	APN	7	73,616,559 (GRCm39)	missense	probably damaging	1.00
BB001:St8sia2	UTSW	7	73,616,700 (GRCm39)	missense	probably damaging	1.00
BB011:St8sia2	UTSW	7	73,616,700 (GRCm39)	missense	probably damaging	1.00
IGL03147:St8sia2	UTSW	7	73,616,567 (GRCm39)	missense	probably damaging	1.00
R0052:St8sia2	UTSW	7	73,621,700 (GRCm39)	missense	probably damaging	1.00
R0052:St8sia2	UTSW	7	73,593,038 (GRCm39)	nonsense	probably null
R0733:St8sia2	UTSW	7	73,610,588 (GRCm39)	missense	probably benign
R1202:St8sia2	UTSW	7	73,621,783 (GRCm39)	missense	probably benign	0.43
R1419:St8sia2	UTSW	7	73,616,742 (GRCm39)	nonsense	probably null
R1962:St8sia2	UTSW	7	73,593,057 (GRCm39)	missense	probably damaging	1.00
R2051:St8sia2	UTSW	7	73,592,950 (GRCm39)	missense	possibly damaging	0.91
R4106:St8sia2	UTSW	7	73,610,509 (GRCm39)	missense	probably damaging	1.00
R4989:St8sia2	UTSW	7	73,616,709 (GRCm39)	missense	possibly damaging	0.75
R5541:St8sia2	UTSW	7	73,616,648 (GRCm39)	missense	probably benign	0.00
R5859:St8sia2	UTSW	7	73,616,654 (GRCm39)	missense	probably damaging	1.00
R6029:St8sia2	UTSW	7	73,610,458 (GRCm39)	missense	possibly damaging	0.96
R6260:St8sia2	UTSW	7	73,626,441 (GRCm39)	missense	possibly damaging	0.56
R6416:St8sia2	UTSW	7	73,621,669 (GRCm39)	missense	probably damaging	1.00
R7371:St8sia2	UTSW	7	73,616,675 (GRCm39)	missense	probably damaging	0.99
R7424:St8sia2	UTSW	7	73,610,650 (GRCm39)	missense	possibly damaging	0.66
R7763:St8sia2	UTSW	7	73,593,069 (GRCm39)	missense	probably damaging	1.00
R7924:St8sia2	UTSW	7	73,616,700 (GRCm39)	missense	probably damaging	1.00
R8688:St8sia2	UTSW	7	73,593,092 (GRCm39)	missense	probably damaging	1.00
R9137:St8sia2	UTSW	7	73,610,654 (GRCm39)	missense	probably benign	0.03
R9139:St8sia2	UTSW	7	73,616,513 (GRCm39)	missense	probably damaging	1.00

Protein Function and Prediction

St8sia2 encodes STX/ST8Sia II, a sialyltransferase that can synthesize polysialic acid on α2,3-sialylated N-glycans of glycoproteins in neural cell types during development and in regions of neurogenesis and neuroplasticity in adults (1-4).

Background

St8sia2^{tm1Jxm/tm1Jxm}; MGI:3051219

involves: C57BL/6

Homozygous null mice display abnormal mossy fiber morphology, increased exploration in new environment and impaired fear responses (4).

References

1. Kojima, N., Yoshida, Y., and Tsuji, S. (1995) A Developmentally Regulated Member of the Sialyltransferase Family (ST8Sia II, STX) is a Polysialic Acid Synthase. FEBS Lett. 373, 119-122.

2. Kojima, N., Yoshida, Y., Kurosawa, N., Lee, Y. C., and Tsuji, S. (1995) Enzymatic Activity of a Developmentally Regulated Member of the Sialyltransferase Family (STX): Evidence for Alpha 2,8-Sialyltransferase Activity Toward N-Linked Oligosaccharides. FEBS Lett. 360, 1-4.

3. Kojima, N., Tachida, Y., Yoshida, Y., and Tsuji, S. (1996) Characterization of Mouse ST8Sia II (STX) as a Neural Cell Adhesion Molecule-Specific Polysialic Acid Synthase. Requirement of Core alpha1,6-Linked Fucose and a Polypeptide Chain for Polysialylation. J Biol Chem. 271, 19457-19463.

4. Angata, K., Long, J. M., Bukalo, O., Lee, W., Dityatev, A., Wynshaw-Boris, A., Schachner, M., Fukuda, M., and Marth, J. D. (2004) Sialyltransferase ST8Sia-II Assembles a Subset of Polysialic Acid that Directs Hippocampal Axonal Targeting and Promotes Fear Behavior. J Biol Chem. 279, 32603-32613.

Posted On

2012-12-17

Science Writer

Anne Murray