Mutagenetix > Incidental Mutation

Incidental Mutation 'R1909:St8sia4'

210110

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

039928-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95515407-95595296 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95555298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 244 (I244T)

Ref Sequence

ENSEMBL: ENSMUSP00000140534 (fasta)

Gene Model

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

AlphaFold

Q64692

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043336
AA Change: I244T

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: I244T

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 damaging
Transcript: ENSMUST00000189556
AA Change: I244T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140534
Gene: ENSMUSG00000040710
AA Change: I244T

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.1%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	C	11: 101,301,057 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,259 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Adam15	C	A	3: 89,252,637 (GRCm39)	M317I	probably benign	Het
Ago3	T	C	4: 126,240,530 (GRCm39)	T111A	probably damaging	Het
Amz1	G	T	5: 140,738,216 (GRCm39)	S492I	probably benign	Het
Arid1a	T	C	4: 133,421,072 (GRCm39)	N911S	unknown	Het
Ascl2	C	A	7: 142,521,900 (GRCm39)	A115S	probably damaging	Het
Ash1l	T	C	3: 88,891,835 (GRCm39)	V1238A	probably benign	Het
Asxl2	G	T	12: 3,524,577 (GRCm39)	V202F	probably damaging	Het
Atp10a	A	T	7: 58,478,460 (GRCm39)	Q1501L	probably benign	Het
Avpr1a	A	T	10: 122,288,113 (GRCm39)	I374L	probably benign	Het
Bmal2	A	T	6: 146,712,308 (GRCm39)	E111V	probably benign	Het
Bmx	T	C	X: 163,022,411 (GRCm39)	H157R	probably benign	Het
Camk4	T	A	18: 33,291,869 (GRCm39)		probably null	Het
Ccdc103	G	A	11: 102,773,392 (GRCm39)	D5N	probably benign	Het
Ccdc186	A	T	19: 56,781,793 (GRCm39)	N70K	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cfap206	A	C	4: 34,722,714 (GRCm39)	S122R	probably benign	Het
Cnst	T	C	1: 179,450,356 (GRCm39)	S607P	probably damaging	Het
Col8a2	C	A	4: 126,205,926 (GRCm39)	D645E	possibly damaging	Het
Cpsf4l	A	T	11: 113,594,204 (GRCm39)		probably null	Het
Crim1	C	T	17: 78,620,556 (GRCm39)	T332I	probably benign	Het
Csmd1	A	T	8: 15,956,116 (GRCm39)	Y3364N	probably damaging	Het
D5Ertd579e	A	T	5: 36,771,402 (GRCm39)	S998T	probably benign	Het
Dab2ip	C	G	2: 35,608,827 (GRCm39)	A587G	probably damaging	Het
Dach1	C	T	14: 98,138,829 (GRCm39)	G486D	probably damaging	Het
Ddx24	T	C	12: 103,376,241 (GRCm39)	I752V	probably damaging	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dhx33	A	G	11: 70,879,933 (GRCm39)	V359A	probably benign	Het
Dip2c	A	T	13: 9,583,386 (GRCm39)	T123S	probably benign	Het
Dync1h1	G	A	12: 110,629,063 (GRCm39)	E4207K	probably damaging	Het
Eef1b2	G	T	1: 63,216,431 (GRCm39)	D21Y	probably damaging	Het
Eif3b	T	C	5: 140,418,692 (GRCm39)	S462P	probably damaging	Het
Elmod2	G	C	8: 84,042,998 (GRCm39)	R277G	probably benign	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Ercc8	A	T	13: 108,312,100 (GRCm39)	K172*	probably null	Het
Fat3	T	C	9: 15,909,411 (GRCm39)	N2197S	probably benign	Het
Fbf1	A	G	11: 116,036,818 (GRCm39)	V972A	possibly damaging	Het
Fcgbpl1	T	C	7: 27,843,773 (GRCm39)	V887A	possibly damaging	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Fzd1	G	T	5: 4,807,481 (GRCm39)	H34N	probably benign	Het
Galnt17	T	A	5: 131,140,676 (GRCm39)	Y147F	probably benign	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gdf6	T	C	4: 9,859,971 (GRCm39)	L351P	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm2381	A	T	7: 42,469,352 (GRCm39)	H257Q	probably damaging	Het
Hivep1	A	T	13: 42,309,122 (GRCm39)	K454M	probably benign	Het
Hmmr	T	A	11: 40,598,925 (GRCm39)	E566D	probably damaging	Het
Hydin	T	G	8: 111,314,404 (GRCm39)	V4296G	probably damaging	Het
Il18r1	T	A	1: 40,514,074 (GRCm39)	D93E	probably damaging	Het
Iqgap1	T	C	7: 80,393,576 (GRCm39)	D667G	probably benign	Het
Lama3	T	C	18: 12,714,855 (GRCm39)	I3278T	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Mdn1	CGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAG	4: 32,760,839 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Ncoa7	A	T	10: 30,565,796 (GRCm39)	M666K	probably damaging	Het
Ndnf	T	G	6: 65,680,297 (GRCm39)	V192G	possibly damaging	Het
Nr4a1	T	A	15: 101,172,108 (GRCm39)	I594N	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2ag16	T	C	7: 106,352,202 (GRCm39)	N131S	probably benign	Het
Or4k44	T	A	2: 111,368,359 (GRCm39)	I92F	probably damaging	Het
Or51q1	G	A	7: 103,628,997 (GRCm39)	W199*	probably null	Het
Or52z13	A	G	7: 103,246,550 (GRCm39)	N9S	probably benign	Het
Paxbp1	T	C	16: 90,841,193 (GRCm39)		probably benign	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pcsk5	A	T	19: 17,410,825 (GRCm39)	Y1856N	probably benign	Het
Pde3a	T	C	6: 141,195,965 (GRCm39)	V217A	probably benign	Het
Phf11	A	T	14: 59,496,062 (GRCm39)	S17R	probably benign	Het
Pira13	A	T	7: 3,825,918 (GRCm39)	I317N	probably benign	Het
Pirb	A	T	7: 3,717,587 (GRCm39)	D674E	probably benign	Het
Pnisr	T	A	4: 21,869,517 (GRCm39)	M335K	possibly damaging	Het
Pnpla7	T	A	2: 24,887,300 (GRCm39)	M48K	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkca	A	T	11: 107,830,438 (GRCm39)	D217E	possibly damaging	Het
Rac3	A	C	11: 120,614,163 (GRCm39)	I142L	probably benign	Het
Ralgapb	G	T	2: 158,286,595 (GRCm39)	A347S	probably damaging	Het
Rbm43	G	C	2: 51,815,446 (GRCm39)	S258R	possibly damaging	Het
Rnf182	T	A	13: 43,821,899 (GRCm39)	V150E	probably benign	Het
Rsph10b	T	C	5: 143,922,309 (GRCm39)	F409L	probably benign	Het
Ryr2	A	T	13: 11,715,235 (GRCm39)	L2778M	probably damaging	Het
Scn1a	T	C	2: 66,161,696 (GRCm39)	N284S	possibly damaging	Het
Scyl2	A	T	10: 89,476,767 (GRCm39)	M786K	probably benign	Het
Sema4g	C	A	19: 44,986,061 (GRCm39)	R301S	probably damaging	Het
Senp6	A	T	9: 80,021,056 (GRCm39)	E245D	possibly damaging	Het
Setx	T	C	2: 29,053,021 (GRCm39)	V2095A	possibly damaging	Het
Slc13a2	A	T	11: 78,290,968 (GRCm39)	M412K	possibly damaging	Het
Slc25a4	T	C	8: 46,662,437 (GRCm39)	N74D	probably damaging	Het
Slc28a1	T	A	7: 80,791,783 (GRCm39)	F316L	probably damaging	Het
Slfn8	G	A	11: 82,894,447 (GRCm39)	Q731*	probably null	Het
Slitrk4	A	G	X: 63,316,229 (GRCm39)	I146T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Smg8	G	T	11: 86,971,439 (GRCm39)	Y777*	probably null	Het
Smyd1	T	A	6: 71,216,563 (GRCm39)	K61N	probably benign	Het
Sod2	T	C	17: 13,234,056 (GRCm39)	*223R	probably null	Het
Sp6	G	T	11: 96,912,334 (GRCm39)	A16S	probably benign	Het
Spata31d1a	A	C	13: 59,850,509 (GRCm39)	Y540D	probably damaging	Het
Spatc1l	A	G	10: 76,399,751 (GRCm39)	D91G	probably damaging	Het
Spg7	A	G	8: 123,807,480 (GRCm39)	T419A	probably benign	Het
Tbl2	C	T	5: 135,181,845 (GRCm39)	R27W	probably damaging	Het
Tmed4	G	A	11: 6,224,694 (GRCm39)	P47L	probably damaging	Het
Tmsb10b	T	C	7: 24,561,731 (GRCm39)	I10T	possibly damaging	Het
Tmtc1	T	C	6: 148,345,546 (GRCm39)	D51G	possibly damaging	Het
Ttc28	T	C	5: 111,431,920 (GRCm39)		probably null	Het
Unc13d	A	G	11: 115,961,121 (GRCm39)	F412S	probably damaging	Het
Unc45b	A	C	11: 82,816,913 (GRCm39)	K451T	probably damaging	Het
Vmn2r16	A	G	5: 109,511,853 (GRCm39)	M687V	probably benign	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vps51	A	G	19: 6,119,499 (GRCm39)	V625A	probably benign	Het
Wapl	T	A	14: 34,413,869 (GRCm39)	W244R	probably damaging	Het
Wdr75	C	T	1: 45,862,563 (GRCm39)	T794I	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
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

Predicted Primers

PCR Primer
(F):5'- TTTCAATGTGGTTGAGCAGAAAGAC -3'
(R):5'- GCAATCTAGCTCCTGTGGTG -3'

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

Posted On

2014-06-30