Mutagenetix > Incidental Mutation

Incidental Mutation 'R4844:St8sia1'

439478

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

042457-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142767271-142910178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142774996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 194 (R194S)

Ref Sequence

ENSEMBL: ENSMUSP00000032421 (fasta)

Gene Model

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

AlphaFold

Q64687

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032421
AA Change: R194S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: R194S

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (68/70)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,634,824 (GRCm39)	T147A	probably benign	Het
Acvrl1	T	C	15: 101,033,409 (GRCm39)	S99P	probably damaging	Het
Adamts3	T	A	5: 89,825,675 (GRCm39)	S1055C	probably damaging	Het
Aftph	T	C	11: 20,658,667 (GRCm39)		probably benign	Het
Aldh1a1	A	G	19: 20,611,764 (GRCm39)	K363E	probably benign	Het
Astn2	A	G	4: 65,562,967 (GRCm39)	V886A	possibly damaging	Het
Atad5	G	A	11: 80,005,137 (GRCm39)		probably null	Het
C9orf72	A	G	4: 35,213,565 (GRCm39)	V31A	possibly damaging	Het
Ccnf	G	T	17: 24,449,331 (GRCm39)	Y482*	probably null	Het
Cfap97	A	G	8: 46,622,712 (GRCm39)	D34G	possibly damaging	Het
Chst11	G	T	10: 83,026,923 (GRCm39)	E117*	probably null	Het
Cobl	A	T	11: 12,204,740 (GRCm39)	L572Q	probably benign	Het
Coch	G	A	12: 51,649,477 (GRCm39)	G263S	probably damaging	Het
Coq4	T	C	2: 29,686,026 (GRCm39)	I205T	possibly damaging	Het
Cyp3a13	A	T	5: 137,915,813 (GRCm39)	I62K	probably benign	Het
Cyp7a1	A	G	4: 6,273,655 (GRCm39)	S84P	probably damaging	Het
Dennd10	GTCT	GT	19: 60,823,435 (GRCm39)		probably null	Het
G6pc3	G	A	11: 102,084,057 (GRCm39)		probably null	Het
Gm10576	T	C	4: 100,911,707 (GRCm39)		noncoding transcript	Het
Gm17511	G	A	7: 126,885,454 (GRCm39)		noncoding transcript	Het
Gnat2	T	C	3: 108,002,831 (GRCm39)	S80P	probably damaging	Het
Gpaa1	C	T	15: 76,216,508 (GRCm39)		probably benign	Het
Gpr107	T	A	2: 31,078,686 (GRCm39)		probably null	Het
Hormad1	T	C	3: 95,478,242 (GRCm39)	Y103H	probably damaging	Het
Ighv14-1	T	G	12: 113,895,622 (GRCm39)	Q101P	probably damaging	Het
Igsf9	A	G	1: 172,324,737 (GRCm39)	D885G	probably benign	Het
Il15ra	G	A	2: 11,723,082 (GRCm39)		probably benign	Het
Islr2	C	T	9: 58,115,517 (GRCm39)		probably benign	Het
Jak3	A	T	8: 72,134,299 (GRCm39)	N467I	possibly damaging	Het
Jarid2	T	C	13: 45,067,248 (GRCm39)	V1023A	probably damaging	Het
Kcnn2	A	T	18: 45,816,187 (GRCm39)	T333S	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2c	T	C	5: 25,520,111 (GRCm39)	T2000A	probably benign	Het
Lpxn	A	G	19: 12,810,536 (GRCm39)	T327A	probably damaging	Het
Mxra8	A	G	4: 155,927,151 (GRCm39)	T362A	probably benign	Het
Myh6	A	G	14: 55,184,651 (GRCm39)	I1560T	possibly damaging	Het
Ndufv1	A	G	19: 4,062,574 (GRCm39)	S17P	probably benign	Het
Nwd1	A	T	8: 73,393,742 (GRCm39)	H335L	probably damaging	Het
Or1a1	A	G	11: 74,086,902 (GRCm39)	D191G	probably damaging	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Otop2	G	A	11: 115,214,201 (GRCm39)		probably null	Het
Pwwp2b	C	A	7: 138,835,502 (GRCm39)	S314R	probably benign	Het
Rfx7	C	T	9: 72,500,524 (GRCm39)	Q95*	probably null	Het
Serpine2	A	T	1: 79,777,241 (GRCm39)	L192*	probably null	Het
Smpdl3b	T	C	4: 132,465,369 (GRCm39)	I322M	probably damaging	Het
Spata31d1b	C	T	13: 59,866,169 (GRCm39)	R1106C	possibly damaging	Het
Sprr2k	T	G	3: 92,336,732 (GRCm39)		probably null	Het
Sv2a	T	A	3: 96,095,695 (GRCm39)	V337D	probably damaging	Het
Tars1	G	A	15: 11,385,281 (GRCm39)	R637W	possibly damaging	Het
Tcp11l2	G	T	10: 84,449,555 (GRCm39)	V507L	probably benign	Het
Tpr	T	C	1: 150,321,630 (GRCm39)	Y2262H	possibly damaging	Het
Vars1	A	G	17: 35,230,588 (GRCm39)	E529G	probably damaging	Het
Vash2	C	T	1: 190,710,691 (GRCm39)		probably benign	Het
Vmn1r194	T	C	13: 22,429,223 (GRCm39)	V280A	probably benign	Het
Vti1a	A	G	19: 55,380,297 (GRCm39)	T142A	probably damaging	Het
Zfp111	C	T	7: 23,898,801 (GRCm39)	C270Y	probably damaging	Het
Zfp518a	T	A	19: 40,903,340 (GRCm39)	Y1090N	probably damaging	Het
Zfp616	A	T	11: 73,975,225 (GRCm39)	Y498F	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
R3824:St8sia1	UTSW	6	142,774,751 (GRCm39)	missense	probably damaging	1.00
R4803:St8sia1	UTSW	6	142,813,649 (GRCm39)	missense	probably benign	0.04
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'- CCAATGTTCCGAAGAAAGTTGG -3'
(R):5'- TCTAGCAGAGCTTCATTGAGG -3'

Sequencing Primer
(F):5'- TTCCGAAGAAAGTTGGGGTTAGC -3'
(R):5'- CAGAGCTTCATTGAGGAATGTTGAC -3'

Posted On

2016-11-02