Mutagenetix > Incidental Mutation

Incidental Mutation 'R8906:St8sia5'

680155

Institutional Source

Beutler Lab

Gene Symbol

St8sia5

Ensembl Gene

ENSMUSG00000025425

Gene Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5

Synonyms

Siat8e, ST8SiaV

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8906 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77185853-77255450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77248476 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 202 (V202M)

Ref Sequence

ENSEMBL: ENSMUSP00000074764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075290] [ENSMUST00000079618]

AlphaFold

P70126

Predicted Effect

probably damaging
Transcript: ENSMUST00000075290
AA Change: V202M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: V202M

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Glyco_transf_29	152	407	6.4e-74	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079618
AA Change: V166M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: V166M

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Glyco_transf_29	112	372	5.4e-79	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	C	19: 3,716,686	N91T	possibly damaging	Het
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,653,398		probably null	Het
4932414N04Rik	A	G	2: 68,732,154	D375G	possibly damaging	Het
4932415D10Rik	T	C	10: 82,286,545	T3544A	probably benign	Het
Adad2	C	A	8: 119,612,986	P69Q	probably benign	Het
Adamts3	G	A	5: 89,677,716	T1088I	probably damaging	Het
Ank2	A	G	3: 126,933,071	V858A	probably benign	Het
Ankrd13a	A	G	5: 114,801,737	N475S	probably benign	Het
Barhl2	G	A	5: 106,455,486	T269I	probably benign	Het
Boc	G	A	16: 44,503,568	R157W		Het
Bsn	G	T	9: 108,107,553	P3101T	unknown	Het
Catsperb	C	A	12: 101,520,645	A477E	possibly damaging	Het
Ccser1	T	A	6: 61,810,858	I220K	probably benign	Het
Cd200r3	A	T	16: 44,957,739	I242F	possibly damaging	Het
Cdc34b	A	C	11: 94,742,085	D37A	probably damaging	Het
Chek2	A	G	5: 110,865,592		probably benign	Het
Cngb1	A	T	8: 95,263,108	V792D	probably damaging	Het
Cops7a	T	C	6: 124,962,408	K93E	possibly damaging	Het
Crispld1	T	C	1: 17,750,771	I345T	possibly damaging	Het
Dgkd	A	G	1: 87,941,435	D1170G	probably damaging	Het
Dhx35	A	G	2: 158,806,998	T115A	possibly damaging	Het
Dnaic1	G	A	4: 41,625,125	R363H	probably benign	Het
Dnmbp	T	A	19: 43,890,242	Q130L	probably benign	Het
Egfr	A	G	11: 16,911,635	Y1138C	probably damaging	Het
Elf3	A	T	1: 135,254,940	L329Q	probably damaging	Het
Enkur	A	G	2: 21,196,757	M39T	probably benign	Het
Epha7	T	C	4: 28,821,615	I260T	probably damaging	Het
Fbxo28	A	T	1: 182,317,069	I310K	probably damaging	Het
Fga	C	A	3: 83,031,804	N495K	probably benign	Het
Galnt6	T	C	15: 100,703,366	D344G	probably damaging	Het
Gm572	A	G	4: 148,666,833	Q221R	probably benign	Het
Gm6205	G	T	5: 94,683,554	R140L	possibly damaging	Het
Gpa33	G	A	1: 166,146,647	A18T	probably benign	Het
Gpatch11	C	T	17: 78,837,860	T6I	probably benign	Het
Gpr84	T	A	15: 103,309,198	S151C	probably damaging	Het
H2-M11	T	A	17: 36,548,959	Y281*	probably null	Het
Hadh	T	C	3: 131,245,242	N155S	probably benign	Het
Hoxd13	A	G	2: 74,669,922	Y269C		Het
Iars	T	A	13: 49,728,701	C1074S	probably benign	Het
Ibtk	G	T	9: 85,743,404	H98N	possibly damaging	Het
Igsf10	C	T	3: 59,326,318	G1665R	probably benign	Het
Inpp5d	A	G	1: 87,697,615		probably benign	Het
Ipo9	A	C	1: 135,394,213	V593G	probably damaging	Het
Irx3	T	C	8: 91,800,287	D263G	possibly damaging	Het
Kif13a	A	G	13: 46,773,678	V1179A	probably benign	Het
Lrrc4c	T	C	2: 97,630,048	Y340H	probably benign	Het
Lysmd1	A	G	3: 95,137,908	D155G	probably damaging	Het
Micalcl	T	A	7: 112,381,464	I105N	probably damaging	Het
Mob2	A	T	7: 142,009,524	L66Q	probably damaging	Het
Myh1	A	G	11: 67,205,913	S337G	probably benign	Het
Neb	T	C	2: 52,206,247	D1002G	probably benign	Het
Nebl	A	T	2: 17,378,117	N116K	probably benign	Het
Nkx2-6	T	C	14: 69,175,174	S264P	probably benign	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Nlrp4e	A	G	7: 23,321,131	T348A	possibly damaging	Het
Nomo1	A	T	7: 46,072,580	I982F	probably benign	Het
Olfr16	A	G	1: 172,956,619		probably benign	Het
Olfr348	A	T	2: 36,786,609	Y28F	probably benign	Het
Olfr739	T	G	14: 50,424,834	F105C	probably damaging	Het
Olfr936	A	G	9: 39,046,781	F213L	possibly damaging	Het
Palld	A	G	8: 61,550,164		probably null	Het
Pcdh7	A	G	5: 57,721,812	Y903C	probably damaging	Het
Pknox2	G	A	9: 36,892,871	T460M	possibly damaging	Het
Ppm1h	C	T	10: 122,878,546	T330I	probably damaging	Het
Ppp2r2b	C	T	18: 42,688,334	R253H	probably damaging	Het
Prr18	G	A	17: 8,341,644	A211T	probably benign	Het
Ptgs2	A	G	1: 150,104,108	I321M		Het
Rara	G	T	11: 98,970,163	R159L	probably damaging	Het
Rasa4	T	A	5: 136,104,592	I635N	probably benign	Het
Rxfp2	A	T	5: 150,066,423	H423L	possibly damaging	Het
Scn4b	A	G	9: 45,147,871	I147V	possibly damaging	Het
Scrn3	G	A	2: 73,331,008	V313I	probably benign	Het
Scrn3	C	A	2: 73,331,011	P314T	possibly damaging	Het
Sh2b1	A	G	7: 126,471,120		probably null	Het
Slc26a10	T	C	10: 127,180,590	Q3R	probably benign	Het
Slitrk1	A	G	14: 108,911,707	I524T	probably damaging	Het
Smcp	T	A	3: 92,584,223	N106Y	unknown	Het
Stxbp5l	A	T	16: 37,208,164	D512E	probably damaging	Het
Tas1r2	A	G	4: 139,669,735	E795G	probably damaging	Het
Tdrd1	T	A	19: 56,842,713	V320D	probably damaging	Het
Tmem71	T	A	15: 66,532,757	I261L	probably benign	Het
Tns2	T	C	15: 102,111,604	L643P	probably damaging	Het
Upf1	G	A	8: 70,334,165	Q890*	probably null	Het
Usp43	A	T	11: 67,891,481	H370Q	possibly damaging	Het
Vmn1r236	T	A	17: 21,287,094	I158N	possibly damaging	Het
Vmn2r98	T	A	17: 19,066,270	N343K	probably benign	Het
Vwa8	T	C	14: 79,092,375	S1216P	probably benign	Het
Yars	A	C	4: 129,196,954	D97A	probably damaging	Het
Zer1	G	A	2: 30,111,023	H129Y	probably benign	Het
Zfat	C	T	15: 68,084,555	D1143N	possibly damaging	Het

Other mutations in St8sia5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:St8sia5	APN	18	77254662	missense	probably damaging	1.00
IGL01320:St8sia5	APN	18	77254622	missense	probably damaging	1.00
IGL01682:St8sia5	APN	18	77248500	missense	probably damaging	0.99
IGL01984:St8sia5	APN	18	77248461	missense	probably benign	0.03
ANU22:St8sia5	UTSW	18	77254662	missense	probably damaging	1.00
R0194:St8sia5	UTSW	18	77254724	missense	probably benign	0.13
R0392:St8sia5	UTSW	18	77254406	missense	probably damaging	1.00
R0622:St8sia5	UTSW	18	77246113	missense	probably damaging	1.00
R0696:St8sia5	UTSW	18	77254464	missense	probably damaging	1.00
R1231:St8sia5	UTSW	18	77232806	missense	probably damaging	0.97
R1559:St8sia5	UTSW	18	77211764	critical splice donor site	probably null
R2058:St8sia5	UTSW	18	77254763	missense	probably damaging	1.00
R2059:St8sia5	UTSW	18	77254763	missense	probably damaging	1.00
R2268:St8sia5	UTSW	18	77232830	missense	probably damaging	0.99
R4399:St8sia5	UTSW	18	77253018	missense	probably damaging	1.00
R4926:St8sia5	UTSW	18	77254782	missense	possibly damaging	0.84
R5986:St8sia5	UTSW	18	77254782	missense	possibly damaging	0.84
R6301:St8sia5	UTSW	18	77246140	missense	probably damaging	0.98
R7020:St8sia5	UTSW	18	77246180	missense	probably damaging	0.97
R7087:St8sia5	UTSW	18	77254542	missense	possibly damaging	0.88
R7784:St8sia5	UTSW	18	77254550	missense	probably benign	0.36
R8037:St8sia5	UTSW	18	77248542	missense	possibly damaging	0.95
R8153:St8sia5	UTSW	18	77253111	critical splice donor site	probably null
R8544:St8sia5	UTSW	18	77254418	missense	probably damaging	1.00
R8858:St8sia5	UTSW	18	77232815	missense	probably benign	0.01
R8980:St8sia5	UTSW	18	77246065	critical splice acceptor site	probably null
R9294:St8sia5	UTSW	18	77254829	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTCGAATTCCCCTCGTTG -3'
(R):5'- ACAGGTCTGTCTAGCCACTTGG -3'

Sequencing Primer
(F):5'- CCTCGTTGGGTAGAACTTAGAG -3'
(R):5'- AGCCACTTGGGTTTTAGTTAATTCC -3'

Posted On

2021-08-31