Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:St8sia1'

555311

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

Accession Numbers

Essential gene?

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

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142767271-142910178 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 142774978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 200 (W200*)

Ref Sequence

ENSEMBL: ENSMUSP00000032421 (fasta)

Gene Model

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

AlphaFold

Q64687

Predicted Effect

probably null
Transcript: ENSMUST00000032421
AA Change: W200*

SMART Domains

Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: W200*

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

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

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 121,898,965 (GRCm39)	I649S	probably damaging	Het
Abcc2	T	A	19: 43,792,221 (GRCm39)	L334*	probably null	Het
Adam28	A	T	14: 68,872,325 (GRCm39)	S306T	probably benign	Het
Adam34	T	A	8: 44,104,349 (GRCm39)	D432V	probably damaging	Het
Adcy7	A	G	8: 89,050,264 (GRCm39)	Y723C	probably benign	Het
Adgre5	T	A	8: 84,451,089 (GRCm39)	M713L	probably benign	Het
Aebp2	C	A	6: 140,583,412 (GRCm39)	C295*	probably null	Het
Amn1	G	T	6: 149,072,357 (GRCm39)	Q127K	probably benign	Het
Atcay	C	T	10: 81,046,383 (GRCm39)	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,488,495 (GRCm39)	E847G	probably benign	Het
Atp2b1	A	G	10: 98,852,840 (GRCm39)	E1039G	probably benign	Het
Caskin1	A	G	17: 24,718,266 (GRCm39)	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,105 (GRCm39)	T94A	probably damaging	Het
Ciart	T	A	3: 95,787,788 (GRCm39)	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079 (GRCm39)	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,145,097 (GRCm39)	S298R	possibly damaging	Het
Cul7	T	A	17: 46,962,746 (GRCm39)	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Cypt4	G	C	9: 24,536,770 (GRCm39)	A87P	probably damaging	Het
Disp2	G	A	2: 118,618,125 (GRCm39)	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,638,979 (GRCm39)		probably null	Het
Dock1	A	G	7: 134,754,029 (GRCm39)	K1602R	probably benign	Het
Ears2	T	C	7: 121,647,562 (GRCm39)	I241V	probably benign	Het
Eml6	T	C	11: 29,752,489 (GRCm39)	T975A	probably damaging	Het
Ephb2	T	C	4: 136,388,121 (GRCm39)	T660A	probably benign	Het
Fbxw7	G	A	3: 84,872,621 (GRCm39)	V268M		Het
Gart	A	G	16: 91,433,426 (GRCm39)	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,681,520 (GRCm39)	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031 (GRCm39)	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032 (GRCm39)	Q975H	probably benign	Het
Grik5	C	A	7: 24,710,119 (GRCm39)	R872L	probably damaging	Het
Hmox2	T	A	16: 4,582,921 (GRCm39)	I218N	probably damaging	Het
Hook1	A	T	4: 95,903,089 (GRCm39)	D526V	probably damaging	Het
Ifna4	A	T	4: 88,760,191 (GRCm39)	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,270,492 (GRCm39)	N213Y	unknown	Het
Itih4	G	A	14: 30,623,127 (GRCm39)	V900I	probably benign	Het
Itpr2	A	T	6: 146,274,671 (GRCm39)	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,469,941 (GRCm39)	V147A	probably benign	Het
Klra9	T	A	6: 130,168,284 (GRCm39)		probably benign	Het
Lamp3	G	T	16: 19,492,210 (GRCm39)	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,807,822 (GRCm39)	E1188K	probably damaging	Het
Med1	T	A	11: 98,049,243 (GRCm39)	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,205,447 (GRCm39)	T242A	probably damaging	Het
Nemp1	T	A	10: 127,532,123 (GRCm39)	F392Y	probably benign	Het
Obscn	C	A	11: 58,951,802 (GRCm39)	G3984W	probably damaging	Het
Obscn	T	A	11: 58,960,660 (GRCm39)	H3217L	possibly damaging	Het
Or10ak7	A	G	4: 118,791,823 (GRCm39)	M74T	probably benign	Het
Or13j1	A	G	4: 43,706,464 (GRCm39)	Y35H	probably damaging	Het
Or2d3b	C	T	7: 106,514,136 (GRCm39)	H244Y	probably damaging	Het
Or2d3c	T	C	7: 106,526,049 (GRCm39)	I206V	probably benign	Het
Or5l14	C	T	2: 87,792,802 (GRCm39)	V145M	possibly damaging	Het
P4ha1	G	T	10: 59,186,294 (GRCm39)	A258S	probably benign	Het
Parn	T	C	16: 13,425,145 (GRCm39)	I423V	probably benign	Het
Pcdh20	C	A	14: 88,704,744 (GRCm39)	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,722,784 (GRCm39)		probably null	Het
Pcsk1	A	T	13: 75,260,769 (GRCm39)	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,748,761 (GRCm39)	S1803R	probably benign	Het
Pkd1l3	C	A	8: 110,387,433 (GRCm39)	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,913,469 (GRCm39)	Q1119K		Het
Prr30	T	A	14: 101,436,371 (GRCm39)	T64S	probably benign	Het
Rec114	T	C	9: 58,567,653 (GRCm39)	N111S	probably benign	Het
Reck	G	A	4: 43,895,850 (GRCm39)	V79I	probably benign	Het
Rexo1	A	G	10: 80,386,231 (GRCm39)	F276L	probably damaging	Het
Rgs6	T	C	12: 83,138,553 (GRCm39)	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,197,793 (GRCm39)	R2149G	probably benign	Het
Slc20a2	C	A	8: 23,025,398 (GRCm39)	F33L	probably damaging	Het
Spopl	T	A	2: 23,435,461 (GRCm39)	T25S	probably damaging	Het
Srcap	A	T	7: 127,148,492 (GRCm39)	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,881,291 (GRCm39)		probably null	Het
Tas2r106	A	T	6: 131,655,465 (GRCm39)	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,570,857 (GRCm39)	L205Q	probably damaging	Het
Tchh	C	A	3: 93,353,187 (GRCm39)	R876S	unknown	Het
Thap12	G	T	7: 98,364,245 (GRCm39)	A138S	probably benign	Het
Tjp1	C	T	7: 64,993,362 (GRCm39)		probably null	Het
Traf4	G	A	11: 78,052,360 (GRCm39)	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 72,903,447 (GRCm39)		probably null	Het
Usp20	G	A	2: 30,907,498 (GRCm39)	V677M	possibly damaging	Het
Usp50	C	A	2: 126,625,236 (GRCm39)		probably benign	Het
Vmn1r21	T	C	6: 57,821,307 (GRCm39)	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,363,669 (GRCm39)	H408L	probably benign	Het
Zfp266	T	C	9: 20,417,299 (GRCm39)	T30A	probably benign	Het
Zfp536	T	C	7: 37,179,182 (GRCm39)	H1141R	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
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
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'- CCAGAACTTTCCAATGTTCCG -3'
(R):5'- AGCTTCATTGAGGAATGTTGACG -3'

Sequencing Primer
(F):5'- TTCCAATGTTCCGAAGAAAGTTGGG -3'
(R):5'- CATTGAGGAATGTTGACGAGTTC -3'

Posted On

2019-06-07