Mutagenetix > Incidental Mutation

Incidental Mutation 'R0690:St8sia1'

61338

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

038875-MU

Accession Numbers

Essential gene?

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

Stock #

R0690 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

142767271-142910178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142774980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 200 (W200R)

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: W200R

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

SMART Domains

Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: W200R

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

0.1095

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (87/90)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,860,634 (GRCm39)		probably benign	Het
Abi3	T	C	11: 95,724,460 (GRCm39)		probably benign	Het
Adam2	T	C	14: 66,295,095 (GRCm39)	N250S	probably damaging	Het
Agbl4	T	A	4: 111,514,585 (GRCm39)	I532K	probably benign	Het
Agrn	T	G	4: 156,258,910 (GRCm39)	E905A	probably damaging	Het
Ahi1	A	G	10: 20,846,742 (GRCm39)		probably benign	Het
Aifm2	A	G	10: 61,562,231 (GRCm39)	N89S	probably benign	Het
Arsj	C	T	3: 126,231,833 (GRCm39)	T193I	probably damaging	Het
Ascc2	T	A	11: 4,632,933 (GRCm39)	V702E	probably damaging	Het
Avpr1b	T	C	1: 131,528,019 (GRCm39)	S181P	probably damaging	Het
Bcl7a	G	A	5: 123,490,003 (GRCm39)	V56I	possibly damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Celsr2	C	A	3: 108,322,293 (GRCm39)	R173M	probably damaging	Het
Cfap57	A	G	4: 118,426,924 (GRCm39)		probably benign	Het
Cfap69	G	A	5: 5,713,951 (GRCm39)	T27I	probably damaging	Het
Chaf1b	T	C	16: 93,696,905 (GRCm39)		probably benign	Het
Cldn8	C	T	16: 88,359,527 (GRCm39)	V133M	probably damaging	Het
Col2a1	A	T	15: 97,878,073 (GRCm39)	V954E	unknown	Het
Col6a4	T	C	9: 105,905,386 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,586,685 (GRCm39)	M1779V	probably benign	Het
Coq8b	A	G	7: 26,941,674 (GRCm39)	E253G	probably benign	Het
Ctse	T	C	1: 131,602,516 (GRCm39)		probably benign	Het
Cyp2c29	T	A	19: 39,298,170 (GRCm39)	N238K	probably benign	Het
Dcaf1	T	A	9: 106,723,848 (GRCm39)		probably benign	Het
Dcc	A	T	18: 71,942,275 (GRCm39)		probably benign	Het
Dkk1	A	G	19: 30,526,745 (GRCm39)	F12S	probably benign	Het
Dnah6	A	G	6: 73,106,457 (GRCm39)	V1760A	probably benign	Het
Fam117b	G	A	1: 59,997,512 (GRCm39)	S288N	possibly damaging	Het
Fam216a	A	T	5: 122,505,709 (GRCm39)	M110K	probably damaging	Het
Frem3	T	A	8: 81,340,581 (GRCm39)	I958N	possibly damaging	Het
Gab1	T	A	8: 81,526,745 (GRCm39)	N118Y	probably damaging	Het
Gda	T	A	19: 21,387,251 (GRCm39)	I251L	probably benign	Het
Gli2	C	A	1: 118,772,190 (GRCm39)	R505L	probably damaging	Het
Gm5093	A	T	17: 46,750,664 (GRCm39)	I121N	possibly damaging	Het
Gpnmb	C	T	6: 49,024,949 (GRCm39)	S327L	probably benign	Het
Gpr156	T	A	16: 37,812,503 (GRCm39)	Y280N	probably damaging	Het
Gria4	A	G	9: 4,427,071 (GRCm39)	Y790H	probably damaging	Het
Guf1	C	A	5: 69,723,695 (GRCm39)		probably null	Het
H6pd	T	C	4: 150,067,030 (GRCm39)	E452G	possibly damaging	Het
Herc1	T	A	9: 66,294,120 (GRCm39)	Y487*	probably null	Het
Ifi30	T	A	8: 71,217,593 (GRCm39)		probably benign	Het
Klf13	G	A	7: 63,587,819 (GRCm39)	A159V	possibly damaging	Het
Med11	T	A	11: 70,344,052 (GRCm39)	M124K	possibly damaging	Het
Myom3	A	G	4: 135,515,737 (GRCm39)		probably benign	Het
Nat2	A	T	8: 67,954,456 (GRCm39)	I189F	probably damaging	Het
Nhlrc4	C	G	17: 26,162,658 (GRCm39)	G30R	probably damaging	Het
Nkx3-2	G	A	5: 41,919,470 (GRCm39)	R173C	probably damaging	Het
Nox3	T	C	17: 3,745,839 (GRCm39)	N23S	probably damaging	Het
Npr2	A	T	4: 43,646,991 (GRCm39)	Y708F	probably damaging	Het
Nsun2	A	G	13: 69,777,661 (GRCm39)	N409S	probably benign	Het
Nucb2	T	C	7: 116,135,086 (GRCm39)		probably benign	Het
Or13a26	T	C	7: 140,284,700 (GRCm39)	F179L	possibly damaging	Het
Or5be3	A	G	2: 86,864,226 (GRCm39)	F113S	probably damaging	Het
Or8b12	T	C	9: 37,657,513 (GRCm39)	F28L	probably benign	Het
Orai2	A	T	5: 136,190,453 (GRCm39)	V52D	probably damaging	Het
Pcyox1	A	T	6: 86,371,424 (GRCm39)	M154K	probably damaging	Het
Pik3r4	C	A	9: 105,531,175 (GRCm39)	T492K	possibly damaging	Het
Pmpca	T	A	2: 26,281,109 (GRCm39)	Y150N	probably damaging	Het
Ppp1r12b	G	T	1: 134,803,820 (GRCm39)	S446R	probably damaging	Het
Ptpdc1	A	G	13: 48,740,381 (GRCm39)	I289T	probably benign	Het
Pyroxd2	A	G	19: 42,716,081 (GRCm39)		probably benign	Het
Qrfpr	G	A	3: 36,243,708 (GRCm39)	T131M	probably damaging	Het
Rab33b	A	G	3: 51,400,838 (GRCm39)	Y104C	probably damaging	Het
Rad54l	G	T	4: 115,956,947 (GRCm39)		probably benign	Het
Rad9a	A	T	19: 4,247,359 (GRCm39)		probably null	Het
Slc1a5	A	T	7: 16,520,829 (GRCm39)	M233L	probably benign	Het
Slc47a2	C	T	11: 61,233,330 (GRCm39)	V67I	possibly damaging	Het
Slco1a5	T	A	6: 142,214,004 (GRCm39)	Y39F	probably benign	Het
Slfn5	T	C	11: 82,852,229 (GRCm39)	V785A	probably damaging	Het
Sp6	C	T	11: 96,912,370 (GRCm39)	P28S	possibly damaging	Het
Sptbn5	A	G	2: 119,893,156 (GRCm39)		probably null	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944 (GRCm39)		probably benign	Het
Stxbp1	C	A	2: 32,690,707 (GRCm39)		probably benign	Het
Syne1	A	G	10: 4,983,138 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,127,472 (GRCm39)	I371N	possibly damaging	Het
Tll1	C	T	8: 64,527,324 (GRCm39)	S399N	probably damaging	Het
Tmem209	A	C	6: 30,505,833 (GRCm39)	C114G	probably null	Het
Tmem25	C	T	9: 44,706,811 (GRCm39)		probably benign	Het
Tmem8b	T	C	4: 43,674,562 (GRCm39)	I282T	possibly damaging	Het
Trdmt1	T	A	2: 13,549,391 (GRCm39)	H18L	probably benign	Het
Trim63	A	G	4: 134,043,716 (GRCm39)	T60A	probably benign	Het
Trpv2	T	C	11: 62,475,502 (GRCm39)		probably null	Het
Ubr2	A	T	17: 47,249,579 (GRCm39)	I1591K	probably damaging	Het
Use1	A	T	8: 71,819,709 (GRCm39)		probably benign	Het
Zfp850	A	T	7: 27,684,642 (GRCm39)	C35S	possibly damaging	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
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
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'- AGAAGCCATAGATGGACACCTCCTC -3'
(R):5'- CGTGTAGCTTTTACTGACACCGCC -3'

Sequencing Primer
(F):5'- CAGAACTTTCCAATGTTCCGAAG -3'
(R):5'- AGTCTAGCAGAGCTTCATTGAG -3'

Posted On

2013-07-30