Mutagenetix > Incidental Mutation

Incidental Mutation 'R6260:St8sia2'

506620

Institutional Source

Beutler Lab

Gene Symbol

St8sia2

Ensembl Gene

ENSMUSG00000025789

Gene Name

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

Synonyms

ST8SiaII, Siat8b

MMRRC Submission

044377-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R6260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73588867-73663408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73626441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 42 (R42S)

Ref Sequence

ENSEMBL: ENSMUSP00000026896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026896] [ENSMUST00000191970]

AlphaFold

O35696

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026896
AA Change: R42S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026896
Gene: ENSMUSG00000025789
AA Change: R42S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	25	39	N/A	INTRINSIC
Pfam:Glyco_transf_29	109	369	2.7e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191970

SMART Domains

Protein: ENSMUSP00000141307
Gene: ENSMUSG00000025789

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	25	38	N/A	INTRINSIC
Pfam:Glyco_transf_29	84	206	5.8e-36	PFAM

Meta Mutation Damage Score

0.0775

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

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 is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal mossy fiber morphology, increased exploration in new environment and impaired fear responses. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,844,821 (GRCm39)	N1514K	probably damaging	Het
Abcb4	G	T	5: 8,984,219 (GRCm39)	G650*	probably null	Het
Acsbg1	T	A	9: 54,535,751 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
Ank2	C	T	3: 126,737,206 (GRCm39)	V2806I	probably benign	Het
Atxn10	A	T	15: 85,346,612 (GRCm39)	I457F	probably benign	Het
Cad	G	T	5: 31,224,144 (GRCm39)	M800I	probably null	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Ccz1	A	G	5: 143,940,859 (GRCm39)		probably null	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Cfap52	A	T	11: 67,829,780 (GRCm39)	C330S	possibly damaging	Het
Clec16a	C	T	16: 10,512,712 (GRCm39)		probably benign	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddhd2	A	G	8: 26,242,144 (GRCm39)	F244L	probably benign	Het
Ddn	A	G	15: 98,703,735 (GRCm39)	V519A	possibly damaging	Het
Dip2b	G	T	15: 100,060,583 (GRCm39)	V253L	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Fbxo41	A	T	6: 85,455,537 (GRCm39)	L549H	probably damaging	Het
Foxd4	A	G	19: 24,876,968 (GRCm39)	S411P	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Galntl6	T	A	8: 58,337,515 (GRCm39)	D135V	probably damaging	Het
Gm1043	G	C	5: 37,331,816 (GRCm39)	G832A	probably benign	Het
Gm21103	C	T	14: 17,484,841 (GRCm39)	E68K	probably damaging	Het
Gpam	A	G	19: 55,071,838 (GRCm39)	V301A	probably benign	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jak3	C	A	8: 72,131,954 (GRCm39)	Q177K	probably benign	Het
Kcnu1	G	A	8: 26,341,919 (GRCm39)	R88H	probably damaging	Het
Kng1	A	T	16: 22,877,371 (GRCm39)	I60F	possibly damaging	Het
Krt77	A	T	15: 101,772,807 (GRCm39)	Y257*	probably null	Het
Lcor	A	T	19: 41,570,809 (GRCm39)	S1C	probably null	Het
Lcor	G	T	19: 41,570,810 (GRCm39)	S1I	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mefv	C	T	16: 3,530,898 (GRCm39)	R498H	probably benign	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Mtcl1	T	A	17: 66,650,536 (GRCm39)	Q1340L	probably damaging	Het
Nfic	A	T	10: 81,256,351 (GRCm39)	C126*	probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Nt5dc3	A	G	10: 86,647,395 (GRCm39)	Y130C	probably damaging	Het
Or2ag1b	A	T	7: 106,288,079 (GRCm39)	N286K	probably damaging	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or6c65	C	A	10: 129,603,389 (GRCm39)	T8K	probably benign	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Plin2	G	T	4: 86,575,526 (GRCm39)	A341D	probably damaging	Het
Plxnb2	A	T	15: 89,049,494 (GRCm39)	I575N	probably benign	Het
Pnma8b	T	G	7: 16,680,158 (GRCm39)	W381G	probably benign	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rwdd2b	C	A	16: 87,231,356 (GRCm39)	G266V	probably damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Slc28a2b	A	T	2: 122,353,963 (GRCm39)	I530F	probably damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
Syt9	G	T	7: 107,035,717 (GRCm39)	V245F	possibly damaging	Het
Tbpl2	T	A	2: 23,984,898 (GRCm39)	N82I	possibly damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Timm13	A	C	10: 80,736,135 (GRCm39)		probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ttc27	T	A	17: 75,165,086 (GRCm39)	V764D	probably damaging	Het
Ttc39d	C	A	17: 80,524,076 (GRCm39)	S245*	probably null	Het
Ttc41	A	G	10: 86,567,023 (GRCm39)	E563G	probably benign	Het
Ttc41	A	T	10: 86,569,571 (GRCm39)	T650S	probably benign	Het
U2surp	A	C	9: 95,358,210 (GRCm39)	L723R	probably damaging	Het
Ubqln3	G	A	7: 103,791,524 (GRCm39)	Q189*	probably null	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Vmn2r79	T	A	7: 86,686,365 (GRCm39)	M582K	probably benign	Het
Zfp518a	A	G	19: 40,902,567 (GRCm39)	D832G	probably benign	Het
Zfyve28	T	C	5: 34,356,216 (GRCm39)	N762D	probably damaging	Het

Other mutations in St8sia2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02161:St8sia2	APN	7	73,626,430 (GRCm39)	missense	probably benign	0.00
IGL02261:St8sia2	APN	7	73,616,594 (GRCm39)	missense	probably damaging	1.00
IGL02941:St8sia2	APN	7	73,626,397 (GRCm39)	intron	probably benign
IGL02971:St8sia2	APN	7	73,616,559 (GRCm39)	missense	probably damaging	1.00
BB001:St8sia2	UTSW	7	73,616,700 (GRCm39)	missense	probably damaging	1.00
BB011:St8sia2	UTSW	7	73,616,700 (GRCm39)	missense	probably damaging	1.00
IGL03147:St8sia2	UTSW	7	73,616,567 (GRCm39)	missense	probably damaging	1.00
R0052:St8sia2	UTSW	7	73,621,700 (GRCm39)	missense	probably damaging	1.00
R0052:St8sia2	UTSW	7	73,593,038 (GRCm39)	nonsense	probably null
R0052:St8sia2	UTSW	7	73,593,038 (GRCm39)	nonsense	probably null
R0733:St8sia2	UTSW	7	73,610,588 (GRCm39)	missense	probably benign
R1202:St8sia2	UTSW	7	73,621,783 (GRCm39)	missense	probably benign	0.43
R1419:St8sia2	UTSW	7	73,616,742 (GRCm39)	nonsense	probably null
R1962:St8sia2	UTSW	7	73,593,057 (GRCm39)	missense	probably damaging	1.00
R2051:St8sia2	UTSW	7	73,592,950 (GRCm39)	missense	possibly damaging	0.91
R4106:St8sia2	UTSW	7	73,610,509 (GRCm39)	missense	probably damaging	1.00
R4989:St8sia2	UTSW	7	73,616,709 (GRCm39)	missense	possibly damaging	0.75
R5541:St8sia2	UTSW	7	73,616,648 (GRCm39)	missense	probably benign	0.00
R5859:St8sia2	UTSW	7	73,616,654 (GRCm39)	missense	probably damaging	1.00
R6029:St8sia2	UTSW	7	73,610,458 (GRCm39)	missense	possibly damaging	0.96
R6416:St8sia2	UTSW	7	73,621,669 (GRCm39)	missense	probably damaging	1.00
R7371:St8sia2	UTSW	7	73,616,675 (GRCm39)	missense	probably damaging	0.99
R7424:St8sia2	UTSW	7	73,610,650 (GRCm39)	missense	possibly damaging	0.66
R7763:St8sia2	UTSW	7	73,593,069 (GRCm39)	missense	probably damaging	1.00
R7924:St8sia2	UTSW	7	73,616,700 (GRCm39)	missense	probably damaging	1.00
R8688:St8sia2	UTSW	7	73,593,092 (GRCm39)	missense	probably damaging	1.00
R9137:St8sia2	UTSW	7	73,610,654 (GRCm39)	missense	probably benign	0.03
R9139:St8sia2	UTSW	7	73,616,513 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCTCCCATTGACAGCTCC -3'
(R):5'- AAATTCCTGGGCTATGGCTGAG -3'

Sequencing Primer
(F):5'- GCTCCCCTCAAAAGTGATTAAGG -3'
(R):5'- CTATGGCTGAGACCAAGACATG -3'

Posted On

2018-03-15