Mutagenetix > Incidental Mutation

Incidental Mutation 'R9252:St8sia4'

701587

Institutional Source

Beutler Lab

Gene Symbol

St8sia4

Ensembl Gene

ENSMUSG00000040710

Gene Name

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

Synonyms

PST-1, PST, Siat8d, ST8SiaIV

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9252 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

95515407-95595296 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CCTCT to CCT at 95555232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043336] [ENSMUST00000189556]

AlphaFold

Q64692

Predicted Effect

probably null
Transcript: ENSMUST00000043336

SMART Domains

Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710

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

Predicted Effect

probably null
Transcript: ENSMUST00000189556

SMART Domains

Protein: ENSMUSP00000140534
Gene: ENSMUSG00000040710

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Glyco_transf_29	90	266	2.2e-42	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,920,641 (GRCm39)		probably null	Het
Adgrb3	T	C	1: 25,865,496 (GRCm39)	N116D	probably benign	Het
Arfgef1	T	A	1: 10,243,122 (GRCm39)	R1073*	probably null	Het
Atp6v1d	T	A	12: 78,904,023 (GRCm39)	Q46L	probably benign	Het
Brme1	A	G	8: 84,898,878 (GRCm39)	S589G	possibly damaging	Het
Car15	A	T	16: 17,653,246 (GRCm39)	L307*	probably null	Het
Catspere2	A	T	1: 177,938,996 (GRCm39)	H623L	possibly damaging	Het
Ccdc146	T	C	5: 21,502,023 (GRCm39)	D797G	probably damaging	Het
Ccdc27	A	T	4: 154,125,507 (GRCm39)	D112E	unknown	Het
Ccp110	A	G	7: 118,321,673 (GRCm39)	I443V	probably benign	Het
Cd74	T	A	18: 60,941,364 (GRCm39)	M103K	possibly damaging	Het
Cdca2	T	A	14: 67,914,831 (GRCm39)	R809S	possibly damaging	Het
Cfap46	A	T	7: 139,198,165 (GRCm39)	V2061E	unknown	Het
Cimap1b	T	C	15: 89,262,601 (GRCm39)	S119G	probably benign	Het
Ddx11	G	A	17: 66,457,807 (GRCm39)	E873K	probably benign	Het
Gucy2d	G	A	7: 98,116,979 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,309,834 (GRCm39)	S1061R	probably damaging	Het
Ildr1	G	A	16: 36,536,574 (GRCm39)	R201H	probably damaging	Het
Jakmip2	T	A	18: 43,715,194 (GRCm39)	I111F	possibly damaging	Het
Kcnj2	A	G	11: 110,963,355 (GRCm39)	D249G	probably damaging	Het
Kif1a	T	A	1: 93,002,776 (GRCm39)	T208S	probably damaging	Het
Mgam	T	G	6: 40,706,577 (GRCm39)	M76R	probably damaging	Het
Mib1	T	G	18: 10,800,088 (GRCm39)	I809S	probably benign	Het
Myh8	G	T	11: 67,177,302 (GRCm39)	R456L	probably damaging	Het
Mzf1	T	C	7: 12,777,647 (GRCm39)	T665A	probably benign	Het
Nfya	T	C	17: 48,699,943 (GRCm39)	H27R		Het
Nhsl3	A	G	4: 129,117,269 (GRCm39)	V510A	probably benign	Het
Nktr	T	C	9: 121,579,415 (GRCm39)	M1161T	unknown	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Or13c7b	C	T	4: 43,821,109 (GRCm39)	G84D	probably benign	Het
Pde8b	C	T	13: 95,169,424 (GRCm39)	D567N	probably damaging	Het
Pik3cd	A	G	4: 149,740,087 (GRCm39)	I491T	possibly damaging	Het
Plcd3	G	T	11: 102,968,380 (GRCm39)	Y392*	probably null	Het
Plcd4	A	G	1: 74,588,359 (GRCm39)	I69M	probably damaging	Het
Plekhm2	T	C	4: 141,356,443 (GRCm39)	Y799C	probably damaging	Het
Pnlip	T	A	19: 58,669,273 (GRCm39)	I424N	possibly damaging	Het
Prlr	A	G	15: 10,326,550 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,522,247 (GRCm39)	V568A	probably benign	Het
Rtkn	A	G	6: 83,125,143 (GRCm39)	E201G	probably damaging	Het
Scg2	C	T	1: 79,414,069 (GRCm39)	R218H	probably damaging	Het
Shank2	A	G	7: 143,622,535 (GRCm39)	H223R	possibly damaging	Het
Slc23a2	A	T	2: 131,913,842 (GRCm39)	F312I	probably damaging	Het
Slc24a1	T	A	9: 64,835,394 (GRCm39)	E911V	probably damaging	Het
Stat1	C	A	1: 52,174,831 (GRCm39)	Q178K	probably benign	Het
Stat6	A	C	10: 127,483,661 (GRCm39)	N75T	probably benign	Het
Stk10	G	T	11: 32,538,915 (GRCm39)	K251N		Het
Sult1e1	G	T	5: 87,737,973 (GRCm39)	A36E	probably damaging	Het
Tbc1d12	A	G	19: 38,899,477 (GRCm39)	S466G	probably benign	Het
Thsd4	C	A	9: 59,964,230 (GRCm39)	A421S	probably benign	Het
Tsga10	T	A	1: 37,873,364 (GRCm39)	I172L	probably benign	Het
Ttn	A	T	2: 76,600,856 (GRCm39)	M18842K	probably benign	Het
Ttpal	T	G	2: 163,449,105 (GRCm39)		probably benign	Het
Twf2	A	G	9: 106,088,999 (GRCm39)	D62G	probably benign	Het
Ube3d	C	A	9: 86,254,501 (GRCm39)	V327F	probably damaging	Het
Ugt1a8	T	C	1: 88,015,706 (GRCm39)	S40P	probably benign	Het
Unc13c	A	T	9: 73,424,553 (GRCm39)	I2021N	possibly damaging	Het
Vmn2r97	A	T	17: 19,167,849 (GRCm39)	Y701F	probably benign	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
IGL03117:St8sia4	APN	1	95,519,508 (GRCm39)	missense	probably benign	0.12
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
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

Predicted Primers

PCR Primer
(F):5'- TTCAATGTGGTTGAGCAGAAAGAC -3'
(R):5'- TCCATCAGTTGTGCAAAGAGC -3'

Sequencing Primer
(F):5'- TGTGGTTGAGCAGAAAGACTAAGTAC -3'
(R):5'- CAAAGAGCATTTGGAGGCTTTC -3'

Posted On

2022-03-25