Mutagenetix > Incidental Mutation

Incidental Mutation 'R5541:St8sia2'

435962

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

043099-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73588867-73663408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73616648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 109 (D109G)

Ref Sequence

ENSEMBL: ENSMUSP00000141307 (fasta)

Gene Model

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

AlphaFold

O35696

Predicted Effect

probably benign
Transcript: ENSMUST00000026896
AA Change: D130G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026896
Gene: ENSMUSG00000025789
AA Change: D130G

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
AA Change: D109G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141307
Gene: ENSMUSG00000025789
AA Change: D109G

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

0.1217

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,061,808 (GRCm39)	K86R	probably benign	Het
Abca13	T	C	11: 9,241,545 (GRCm39)	V1136A	probably benign	Het
Arfgap2	G	A	2: 91,106,114 (GRCm39)	R530H	probably benign	Het
Arhgap30	T	C	1: 171,231,707 (GRCm39)		probably null	Het
Asb7	T	C	7: 66,329,017 (GRCm39)	R8G	probably benign	Het
Bod1l	T	C	5: 41,949,276 (GRCm39)	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,925,918 (GRCm39)	E227G	probably damaging	Het
Cercam	A	G	2: 29,765,641 (GRCm39)	D261G	probably benign	Het
Chd9	A	T	8: 91,778,132 (GRCm39)	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,224,796 (GRCm39)	S126R	probably damaging	Het
Defa17	T	A	8: 22,146,565 (GRCm39)	C64S	probably damaging	Het
Depdc5	A	T	5: 33,021,973 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,076,908 (GRCm39)	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,169,971 (GRCm39)	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,036,162 (GRCm39)	Y416C	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,394,498 (GRCm39)	I106L	probably benign	Het
Flacc1	A	G	1: 58,697,588 (GRCm39)	M384T	probably benign	Het
Gm10610	A	G	7: 83,198,614 (GRCm39)		noncoding transcript	Het
Gpr22	A	G	12: 31,759,348 (GRCm39)	F258S	probably damaging	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hspg2	C	T	4: 137,247,862 (GRCm39)	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,270,136 (GRCm39)	Q2365K	probably benign	Het
Intu	A	G	3: 40,647,017 (GRCm39)		probably null	Het
Kdm1b	T	C	13: 47,232,672 (GRCm39)	M714T	probably damaging	Het
Kif21a	A	G	15: 90,852,316 (GRCm39)	M924T	probably damaging	Het
Klb	A	T	5: 65,536,577 (GRCm39)	M636L	probably benign	Het
Klrb1a	G	A	6: 128,586,699 (GRCm39)	H219Y	probably benign	Het
Macroh2a2	T	C	10: 61,583,496 (GRCm39)	I215V	probably benign	Het
Marchf10	C	T	11: 105,280,957 (GRCm39)	D443N	probably damaging	Het
Nos1	A	G	5: 118,043,459 (GRCm39)	E578G	probably damaging	Het
Or8b39	T	C	9: 37,996,419 (GRCm39)	C96R	probably damaging	Het
Or9i1	T	C	19: 13,839,328 (GRCm39)	I57T	probably benign	Het
Pard3b	A	G	1: 61,678,502 (GRCm39)	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,684,856 (GRCm39)	V441E	probably damaging	Het
Pde6g	A	T	11: 120,338,998 (GRCm39)	I64N	probably damaging	Het
Pdia4	C	T	6: 47,773,571 (GRCm39)	V593M	probably damaging	Het
Pnn	T	G	12: 59,118,716 (GRCm39)	V433G	possibly damaging	Het
Rbak	G	A	5: 143,159,745 (GRCm39)	S436F	probably damaging	Het
Rpl11	A	G	4: 135,780,043 (GRCm39)		probably benign	Het
Ryr1	G	T	7: 28,785,610 (GRCm39)	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,154,977 (GRCm39)	T661S	probably benign	Het
Smg1	T	A	7: 117,756,386 (GRCm39)		probably benign	Het
Stk-ps1	T	A	17: 36,709,105 (GRCm39)		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,535,334 (GRCm39)		noncoding transcript	Het
Taf1d	T	A	9: 15,220,146 (GRCm39)	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,284,250 (GRCm39)	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,488,341 (GRCm39)	T198I	probably benign	Het
Trappc2b	T	C	11: 51,576,796 (GRCm39)	H34R	probably benign	Het
Ube2q2	T	A	9: 55,099,163 (GRCm39)	V168E	possibly damaging	Het
Ucma	A	G	2: 4,986,141 (GRCm39)	R105G	probably benign	Het
Vmn2r97	C	T	17: 19,148,617 (GRCm39)	Q171*	probably null	Het
Wapl	T	C	14: 34,452,619 (GRCm39)		probably null	Het
Zfand4	T	A	6: 116,291,256 (GRCm39)	C397S	possibly damaging	Het
Zfhx3	A	G	8: 109,675,583 (GRCm39)	N2211S	probably damaging	Het
Zfp143	G	T	7: 109,669,687 (GRCm39)	G39C	probably benign	Het
Zfp568	T	A	7: 29,722,301 (GRCm39)	D414E	possibly damaging	Het
Zfp574	C	T	7: 24,781,375 (GRCm39)	A799V	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
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
R6260:St8sia2	UTSW	7	73,626,441 (GRCm39)	missense	possibly damaging	0.56
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'- CTGCCACTTAGTGCCACAAC -3'
(R):5'- TCTGGGTTGCAGCATCTTTAC -3'

Sequencing Primer
(F):5'- ACAACCCTTGCTGCTGGTG -3'
(R):5'- CTAGCAGCATGGAGACTT -3'

Posted On

2016-10-24