Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03117:St8sia4'

419454

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

St8sia4

Ensembl Gene

ENSMUSG00000040710

Gene Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4

Synonyms

PST-1, PST, Siat8d, ST8SiaIV

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03117

Quality Score

Status

Chromosome

Chromosomal Location

95515407-95595296 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95519508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 327 (N327Y)

Ref Sequence

ENSEMBL: ENSMUSP00000043477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043336]

AlphaFold

Q64692

Predicted Effect

probably benign
Transcript: ENSMUST00000043336
AA Change: N327Y

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: N327Y

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Glyco_transf_29	94	354	2.2e-73	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null adult mice exhibit impaired long term potentiation and impaired long term depression in hippocampal CA1 synapses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d3	A	G	14: 29,189,909 (GRCm39)	L109P	probably damaging	Het
Caprin2	A	T	6: 148,763,964 (GRCm39)	S568T	possibly damaging	Het
Catip	A	G	1: 74,403,744 (GRCm39)	T154A	probably null	Het
Ccdc187	A	G	2: 26,177,980 (GRCm39)	S270P	possibly damaging	Het
Ccdc88a	A	G	11: 29,324,559 (GRCm39)	Y39C	probably damaging	Het
Chrdl2	A	T	7: 99,676,787 (GRCm39)	H203L	possibly damaging	Het
Chrnb2	A	G	3: 89,670,552 (GRCm39)	V62A	probably damaging	Het
Cklf	T	A	8: 104,984,055 (GRCm39)	S73T	possibly damaging	Het
Clk1	A	G	1: 58,456,166 (GRCm39)		probably null	Het
Ctdp1	T	C	18: 80,492,716 (GRCm39)	D593G	probably damaging	Het
Ctsc	A	T	7: 87,958,988 (GRCm39)	I423F	probably damaging	Het
D130043K22Rik	T	A	13: 25,073,825 (GRCm39)	V968E	probably damaging	Het
Dennd4c	A	G	4: 86,696,140 (GRCm39)	S166G	possibly damaging	Het
Dnah2	G	T	11: 69,327,117 (GRCm39)		probably benign	Het
Dnajb11	G	T	16: 22,687,888 (GRCm39)	R206L	probably benign	Het
Dsel	A	T	1: 111,786,908 (GRCm39)		probably benign	Het
Ehd2	T	C	7: 15,684,396 (GRCm39)	S468G	possibly damaging	Het
Ehmt2	T	A	17: 35,125,787 (GRCm39)	V640E	possibly damaging	Het
Elmo2	T	A	2: 165,140,573 (GRCm39)	E299D	probably benign	Het
Eps8l1	T	C	7: 4,473,886 (GRCm39)	L231P	probably damaging	Het
Esd	A	G	14: 74,978,686 (GRCm39)	T83A	probably damaging	Het
Flt3	A	G	5: 147,293,020 (GRCm39)	F529L	probably benign	Het
Hnrnpu	G	A	1: 178,158,339 (GRCm39)		probably benign	Het
Hpx	G	T	7: 105,249,278 (GRCm39)	A7E	possibly damaging	Het
Ighv6-5	C	T	12: 114,380,320 (GRCm39)	V85M	possibly damaging	Het
Itpr3	G	A	17: 27,338,240 (GRCm39)	V2503I	probably damaging	Het
Itprid1	A	G	6: 55,875,114 (GRCm39)	T355A	probably benign	Het
Matr3	G	T	18: 35,705,710 (GRCm39)	G212C	probably damaging	Het
Mrpl35	A	T	6: 71,793,263 (GRCm39)	Y129*	probably null	Het
Myh2	T	C	11: 67,071,710 (GRCm39)	I509T	possibly damaging	Het
Nat8l	G	T	5: 34,158,288 (GRCm39)	A233S	probably damaging	Het
Nipbl	A	C	15: 8,361,936 (GRCm39)	L1447W	probably damaging	Het
Paf1	T	A	7: 28,094,481 (GRCm39)	C31S	possibly damaging	Het
Parp4	A	C	14: 56,840,313 (GRCm39)	T573P	probably benign	Het
Phf12	A	T	11: 77,913,846 (GRCm39)		probably benign	Het
Pi4k2b	A	G	5: 52,905,765 (GRCm39)	E102G	probably benign	Het
Pou2f1	A	G	1: 165,762,382 (GRCm39)	C7R	probably benign	Het
Prpsap2	T	C	11: 61,631,815 (GRCm39)	R181G	probably benign	Het
Psd	A	G	19: 46,311,561 (GRCm39)		probably benign	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rab21	A	T	10: 115,151,097 (GRCm39)		probably null	Het
Relb	T	C	7: 19,346,582 (GRCm39)	D330G	probably damaging	Het
Rhoc	A	T	3: 104,700,236 (GRCm39)	T100S	probably benign	Het
Ryr1	G	T	7: 28,802,389 (GRCm39)	H744N	probably damaging	Het
Sardh	C	T	2: 27,129,458 (GRCm39)	G280D	probably damaging	Het
Scyl2	A	C	10: 89,493,729 (GRCm39)	N346K	possibly damaging	Het
Sec16b	T	C	1: 157,362,970 (GRCm39)	F267S	probably damaging	Het
Slc44a5	T	A	3: 153,956,714 (GRCm39)	M322K	probably benign	Het
Tbl1xr1	T	A	3: 22,257,323 (GRCm39)	Y395*	probably null	Het
Unc13c	A	T	9: 73,441,307 (GRCm39)	S1897R	probably benign	Het
Vangl2	A	G	1: 171,840,415 (GRCm39)	S58P	probably damaging	Het
Vmn1r17	A	G	6: 57,337,501 (GRCm39)	I288T	probably benign	Het
Vmn1r236	A	G	17: 21,507,508 (GRCm39)	I209V	probably benign	Het
Zfp809	A	G	9: 22,149,950 (GRCm39)	Y149C	probably damaging	Het

Other mutations in St8sia4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01566:St8sia4	APN	1	95,581,482 (GRCm39)	missense	probably benign	0.19
IGL02109:St8sia4	APN	1	95,588,617 (GRCm39)	missense	possibly damaging	0.68
IGL03280:St8sia4	APN	1	95,581,499 (GRCm39)	splice site	probably benign
IGL03328:St8sia4	APN	1	95,588,595 (GRCm39)	missense	probably benign	0.01
R0336:St8sia4	UTSW	1	95,581,283 (GRCm39)	missense	probably benign	0.36
R0433:St8sia4	UTSW	1	95,519,429 (GRCm39)	missense	probably damaging	0.97
R1217:St8sia4	UTSW	1	95,581,464 (GRCm39)	missense	probably damaging	1.00
R1721:St8sia4	UTSW	1	95,581,394 (GRCm39)	missense	probably damaging	0.99
R1752:St8sia4	UTSW	1	95,519,537 (GRCm39)	missense	probably benign	0.32
R1891:St8sia4	UTSW	1	95,519,433 (GRCm39)	missense	possibly damaging	0.93
R1909:St8sia4	UTSW	1	95,555,298 (GRCm39)	missense	probably damaging	1.00
R2098:St8sia4	UTSW	1	95,581,253 (GRCm39)	missense	probably damaging	1.00
R2322:St8sia4	UTSW	1	95,581,463 (GRCm39)	missense	probably damaging	1.00
R4094:St8sia4	UTSW	1	95,555,411 (GRCm39)	missense	possibly damaging	0.53
R4365:St8sia4	UTSW	1	95,519,517 (GRCm39)	missense	possibly damaging	0.89
R4852:St8sia4	UTSW	1	95,588,623 (GRCm39)	missense	probably damaging	1.00
R4988:St8sia4	UTSW	1	95,519,522 (GRCm39)	missense	possibly damaging	0.95
R5074:St8sia4	UTSW	1	95,594,910 (GRCm39)	missense	probably benign	0.29
R5220:St8sia4	UTSW	1	95,555,460 (GRCm39)	missense	probably damaging	0.97
R5611:St8sia4	UTSW	1	95,555,409 (GRCm39)	missense	probably damaging	0.96
R5970:St8sia4	UTSW	1	95,581,307 (GRCm39)	missense	probably damaging	1.00
R6027:St8sia4	UTSW	1	95,581,399 (GRCm39)	missense	probably damaging	1.00
R6683:St8sia4	UTSW	1	95,581,424 (GRCm39)	missense	probably damaging	1.00
R7498:St8sia4	UTSW	1	95,519,418 (GRCm39)	missense	probably benign
R7937:St8sia4	UTSW	1	95,581,320 (GRCm39)	missense	possibly damaging	0.56
R8775:St8sia4	UTSW	1	95,519,472 (GRCm39)	missense	possibly damaging	0.93
R8775-TAIL:St8sia4	UTSW	1	95,519,472 (GRCm39)	missense	possibly damaging	0.93
R9095:St8sia4	UTSW	1	95,519,525 (GRCm39)	missense	probably damaging	0.99
R9252:St8sia4	UTSW	1	95,555,232 (GRCm39)	frame shift	probably null
R9433:St8sia4	UTSW	1	95,555,364 (GRCm39)	missense
X0063:St8sia4	UTSW	1	95,519,648 (GRCm39)	missense	possibly damaging	0.92
Z1177:St8sia4	UTSW	1	95,595,181 (GRCm39)	start gained	probably benign

Posted On

2016-08-02