Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:St8sia1'

275279

Institutional Source

Beutler Lab

Gene Symbol

St8sia1

Ensembl Gene

ENSMUSG00000030283

Gene Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1

Synonyms

GD3S, GD3 synthase, Siat8, ST8Sia I, alpha-2,8-sialyltransferase, Siat8a, 9330109E03Rik

MMRRC Submission

040885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142767271-142910178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142774751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 276 (L276P)

Ref Sequence

ENSEMBL: ENSMUSP00000032421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032421] [ENSMUST00000205149]

AlphaFold

Q64687

Predicted Effect

probably damaging
Transcript: ENSMUST00000032421
AA Change: L276P

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

SMART Domains

Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: L276P

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
Pfam:Glyco_transf_29	90	344	8.1e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000100821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147058

Predicted Effect

probably benign
Transcript: ENSMUST00000205149

SMART Domains

Protein: ENSMUSP00000145148
Gene: ENSMUSG00000030283

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
transmembrane domain	76	95	N/A	INTRINSIC

Meta Mutation Damage Score

0.9213

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a targeted allele are behaviorally normal with no signs of aberrant brain histology or demyelination. Homozygotes for a knock-out allele are behaviorally intact with normal nervous tissue morphology and sensitivity to Fas-mediated apoptosis but show impaired repair of damaged nerves. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,508 (GRCm39)	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,203,607 (GRCm39)		probably null	Het
A2ml1	A	G	6: 128,545,726 (GRCm39)	V467A	probably damaging	Het
Abcc3	T	C	11: 94,259,446 (GRCm39)		probably null	Het
Acad10	A	T	5: 121,760,881 (GRCm39)	M941K	probably benign	Het
Agrn	A	G	4: 156,253,759 (GRCm39)	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930 (GRCm39)	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,664,635 (GRCm39)	T308S	probably benign	Het
C8b	G	T	4: 104,640,206 (GRCm39)	A170S	probably benign	Het
Cabyr	T	A	18: 12,884,747 (GRCm39)	D411E	probably benign	Het
Capn3	T	C	2: 120,314,964 (GRCm39)		probably benign	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Cflar	T	A	1: 58,774,856 (GRCm39)	Y218N	probably benign	Het
Col11a2	T	C	17: 34,273,154 (GRCm39)	Y630H	probably damaging	Het
Coq6	T	C	12: 84,419,189 (GRCm39)		probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fry	T	A	5: 150,419,884 (GRCm39)	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,245,222 (GRCm39)	S240P	probably benign	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gls	A	C	1: 52,272,147 (GRCm39)	M2R	possibly damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621 (GRCm39)	Y645*	probably null	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kat8	T	A	7: 127,523,654 (GRCm39)	D292E	possibly damaging	Het
Myo19	T	A	11: 84,776,505 (GRCm39)	C54S	probably damaging	Het
Myo5b	C	T	18: 74,794,726 (GRCm39)	H532Y	probably benign	Het
Nckap1	T	C	2: 80,370,904 (GRCm39)	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,490,752 (GRCm39)	V105M	probably benign	Het
Or2o1	A	G	11: 49,051,620 (GRCm39)	S260G	possibly damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8b1b	T	A	9: 38,375,822 (GRCm39)	C162S	probably benign	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Or8k30	T	G	2: 86,339,367 (GRCm39)	L188R	possibly damaging	Het
Palld	T	C	8: 62,162,067 (GRCm39)	D439G	probably damaging	Het
Pcf11	T	C	7: 92,308,828 (GRCm39)		probably benign	Het
Pigo	A	T	4: 43,020,909 (GRCm39)	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,473,283 (GRCm39)		probably null	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Pramel24	A	T	4: 143,453,255 (GRCm39)	H121L	probably benign	Het
Prom2	A	G	2: 127,377,593 (GRCm39)		probably benign	Het
Ptk7	A	G	17: 46,876,304 (GRCm39)	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Ptprm	A	G	17: 67,116,570 (GRCm39)	V894A	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sdk1	A	G	5: 141,921,804 (GRCm39)	T267A	probably benign	Het
Slco1a7	T	C	6: 141,700,100 (GRCm39)	Q144R	possibly damaging	Het
Sorcs3	T	A	19: 48,711,395 (GRCm39)	D653E	probably damaging	Het
Spata31e3	G	A	13: 50,399,548 (GRCm39)	S926F	possibly damaging	Het
Spata31f3	A	G	4: 42,873,492 (GRCm39)		probably null	Het
Sync	T	C	4: 129,188,156 (GRCm39)	V396A	possibly damaging	Het
Taok3	A	G	5: 117,394,002 (GRCm39)	T592A	probably benign	Het
Tas2r104	T	A	6: 131,662,002 (GRCm39)	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,636,293 (GRCm39)	I252S	probably benign	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Usp24	G	A	4: 106,236,263 (GRCm39)	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413 (GRCm39)	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,607,466 (GRCm39)	N86H	probably damaging	Het
Zfp12	T	C	5: 143,226,077 (GRCm39)	V72A	probably benign	Het

Other mutations in St8sia1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02081:St8sia1	APN	6	142,774,953 (GRCm39)	missense	probably benign	0.00
IGL02138:St8sia1	APN	6	142,909,504 (GRCm39)	utr 5 prime	probably benign
IGL02419:St8sia1	APN	6	142,774,661 (GRCm39)	missense	probably damaging	1.00
IGL03407:St8sia1	APN	6	142,859,775 (GRCm39)	missense	possibly damaging	0.80
PIT4453001:St8sia1	UTSW	6	142,774,978 (GRCm39)	nonsense	probably null
PIT4498001:St8sia1	UTSW	6	142,859,848 (GRCm39)	missense	probably damaging	1.00
R0167:St8sia1	UTSW	6	142,859,907 (GRCm39)	splice site	probably benign
R0690:St8sia1	UTSW	6	142,774,980 (GRCm39)	missense	probably damaging	1.00
R1727:St8sia1	UTSW	6	142,822,453 (GRCm39)	missense	probably damaging	0.99
R1743:St8sia1	UTSW	6	142,774,742 (GRCm39)	missense	probably damaging	1.00
R1937:St8sia1	UTSW	6	142,909,398 (GRCm39)	missense	probably damaging	1.00
R2923:St8sia1	UTSW	6	142,774,963 (GRCm39)	missense	probably damaging	1.00
R2983:St8sia1	UTSW	6	142,909,355 (GRCm39)	missense	probably damaging	0.99
R4803:St8sia1	UTSW	6	142,813,649 (GRCm39)	missense	probably benign	0.04
R4844:St8sia1	UTSW	6	142,774,996 (GRCm39)	missense	possibly damaging	0.82
R4865:St8sia1	UTSW	6	142,774,796 (GRCm39)	missense	probably damaging	1.00
R4886:St8sia1	UTSW	6	142,859,860 (GRCm39)	missense	probably damaging	0.99
R5170:St8sia1	UTSW	6	142,909,434 (GRCm39)	missense	probably damaging	0.99
R5519:St8sia1	UTSW	6	142,909,287 (GRCm39)	missense	probably damaging	0.99
R5783:St8sia1	UTSW	6	142,909,340 (GRCm39)	missense	possibly damaging	0.83
R6713:St8sia1	UTSW	6	142,775,008 (GRCm39)	splice site	probably null
R7017:St8sia1	UTSW	6	142,813,632 (GRCm39)	missense	probably damaging	0.98
R7144:St8sia1	UTSW	6	142,822,395 (GRCm39)	missense	probably damaging	1.00
R7997:St8sia1	UTSW	6	142,909,376 (GRCm39)	missense	probably damaging	1.00
Z1176:St8sia1	UTSW	6	142,774,825 (GRCm39)	missense	probably damaging	1.00
Z1177:St8sia1	UTSW	6	142,774,536 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTGTGAAGATACCAAAGCTGAAGG -3'
(R):5'- ACCTGCTGTGGTCCAGAAAG -3'

Sequencing Primer
(F):5'- GAATTCCTCAGGCATGGCATG -3'
(R):5'- ACAGTTACATCTACATGCCTGC -3'

Posted On

2015-04-02