Mutagenetix > Incidental Mutation

Incidental Mutation 'R7937:St8sia4'

648784

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

045983-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7937 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95515407-95595296 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95581320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 141 (T141A)

Ref Sequence

ENSEMBL: ENSMUSP00000043477 (fasta)

Gene Model

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

AlphaFold

Q64692

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043336
AA Change: T141A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: T141A

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

possibly damaging
Transcript: ENSMUST00000189556
AA Change: T141A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140534
Gene: ENSMUSG00000040710
AA Change: T141A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	GTTGATCCATACA	G	2: 69,154,217 (GRCm39)		probably benign	Het
Ano6	C	A	15: 95,870,470 (GRCm39)	T875K	probably damaging	Het
Armc8	G	A	9: 99,418,272 (GRCm39)	T94I	probably damaging	Het
Ash1l	C	T	3: 88,977,624 (GRCm39)	R2685*	probably null	Het
Bri3bp	A	T	5: 125,531,395 (GRCm39)	N114Y	probably damaging	Het
Camkk2	G	T	5: 122,902,097 (GRCm39)	Q71K	probably benign	Het
Cc2d2b	T	C	19: 40,765,736 (GRCm39)	F49S		Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Chd8	A	G	14: 52,464,963 (GRCm39)	F633L	probably benign	Het
Clec2m	A	G	6: 129,307,974 (GRCm39)	W32R	possibly damaging	Het
Cntn5	G	A	9: 9,748,450 (GRCm39)	T477I	probably damaging	Het
Cyp2c37	T	A	19: 39,982,202 (GRCm39)	Y68N	probably damaging	Het
Dnah2	A	T	11: 69,408,511 (GRCm39)	L53*	probably null	Het
Dnajc11	A	G	4: 152,034,909 (GRCm39)	D44G	probably damaging	Het
Elovl3	T	C	19: 46,123,168 (GRCm39)	F248S	probably damaging	Het
Etfdh	A	G	3: 79,517,123 (GRCm39)	L422P	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fgd4	A	G	16: 16,287,637 (GRCm39)	Y355H	probably damaging	Het
Fgfr2	A	G	7: 129,820,823 (GRCm39)	M237T	probably damaging	Het
Gdap1	A	T	1: 17,230,177 (GRCm39)	K203N	probably benign	Het
Glis1	A	G	4: 107,484,723 (GRCm39)	D594G	possibly damaging	Het
Gm4787	T	A	12: 81,424,679 (GRCm39)	H493L	probably benign	Het
Gpatch3	G	T	4: 133,310,308 (GRCm39)	V418L	probably damaging	Het
Greb1	T	C	12: 16,766,670 (GRCm39)	N376S	probably damaging	Het
Hspg2	A	G	4: 137,278,243 (GRCm39)	Q3010R	probably benign	Het
Ice2	T	A	9: 69,318,067 (GRCm39)	F223I	possibly damaging	Het
Marchf11	A	G	15: 26,409,323 (GRCm39)	T341A	probably damaging	Het
Mllt10	A	G	2: 18,210,895 (GRCm39)	K770E	probably damaging	Het
Mug1	A	G	6: 121,838,128 (GRCm39)	T453A	probably benign	Het
Myh15	C	T	16: 48,976,009 (GRCm39)	T1359I	probably benign	Het
Nbn	A	G	4: 15,958,080 (GRCm39)	K3E	probably damaging	Het
Nlrp4a	T	C	7: 26,163,571 (GRCm39)	F913L	probably benign	Het
Nlrx1	G	T	9: 44,176,086 (GRCm39)	A48D	probably damaging	Het
Noc3l	C	G	19: 38,783,447 (GRCm39)	G643A	possibly damaging	Het
Or4f14b	T	C	2: 111,774,875 (GRCm39)	R309G	probably benign	Het
Or8c17	T	A	9: 38,180,344 (GRCm39)	N170K	probably benign	Het
Pde6b	G	T	5: 108,567,639 (GRCm39)		probably null	Het
Phactr1	A	G	13: 43,231,205 (GRCm39)	I247V	unknown	Het
Pid1	G	T	1: 84,093,745 (GRCm39)	Q48K	probably benign	Het
Ppfia2	A	G	10: 106,699,233 (GRCm39)	N794S	probably benign	Het
Ppox	G	A	1: 171,107,546 (GRCm39)	S123L	possibly damaging	Het
Ptprd	A	C	4: 76,013,772 (GRCm39)	D778E	probably benign	Het
Rgs13	A	G	1: 144,016,600 (GRCm39)	Y48H	probably damaging	Het
Rgs17	T	A	10: 5,783,078 (GRCm39)	M190L	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Scaf8	C	T	17: 3,247,482 (GRCm39)	P935L	probably damaging	Het
Slc22a6	T	C	19: 8,601,253 (GRCm39)	I435T	probably benign	Het
Slc34a1	A	G	13: 23,996,648 (GRCm39)	H51R	probably benign	Het
Snx4	T	C	16: 33,112,199 (GRCm39)	L378P	probably damaging	Het
Spns1	A	G	7: 125,973,226 (GRCm39)	L155P	probably damaging	Het
Syt10	A	T	15: 89,666,820 (GRCm39)	S510R	probably damaging	Het
Tmprss11d	A	T	5: 86,457,349 (GRCm39)	F241L	probably benign	Het
Tnfrsf21	A	T	17: 43,348,816 (GRCm39)	T143S	probably benign	Het
Trim72	A	G	7: 127,609,491 (GRCm39)	N431S	probably benign	Het
Usp43	A	G	11: 67,746,615 (GRCm39)	S1031P	probably damaging	Het
Wdr75	A	G	1: 45,858,799 (GRCm39)	Y656C	probably benign	Het
Zfp28	T	C	7: 6,396,785 (GRCm39)	C407R	probably damaging	Het
Zfp804b	C	T	5: 6,821,866 (GRCm39)	R399Q	possibly damaging	Het
Zfp949	T	A	9: 88,451,323 (GRCm39)	C298S	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
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
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'- CCACATAAATGGTGACGTTCTC -3'
(R):5'- CTTTGCTTGCATTCCAAATACAGG -3'

Sequencing Primer
(F):5'- AATGGTGACGTTCTCAATCATTC -3'
(R):5'- AGCCTGGTGATGTCATAC -3'

Posted On

2020-09-15