Mutagenetix > Incidental Mutation

Incidental Mutation 'R1587:St8sia6'

177543

Institutional Source

Beutler Lab

Gene Symbol

St8sia6

Ensembl Gene

ENSMUSG00000003418

Gene Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

Synonyms

Siat8f, 1700007J08Rik, ST8Sia VI

MMRRC Submission

039624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1587 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13659745-13798659 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13677416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 134 (D134N)

Ref Sequence

ENSEMBL: ENSMUSP00000003509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003509]

AlphaFold

Q8K4T1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003509
AA Change: D134N

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003509
Gene: ENSMUSG00000003418
AA Change: D134N

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glyco_transf_29	138	393	4.2e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195289

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,473,585 (GRCm39)	S111T	probably benign	Het
Abhd2	A	T	7: 79,003,758 (GRCm39)	H279L	probably benign	Het
Ablim1	C	T	19: 57,071,979 (GRCm39)	M1I	probably null	Het
Agrn	T	C	4: 156,263,897 (GRCm39)	Q122R	probably damaging	Het
Arfgef1	A	T	1: 10,230,184 (GRCm39)	F1218I	probably damaging	Het
Bud13	C	T	9: 46,201,513 (GRCm39)	P395S	probably damaging	Het
Ccdc110	G	A	8: 46,394,783 (GRCm39)	V225M	probably benign	Het
Ccdc30	A	T	4: 119,210,373 (GRCm39)	S248T	probably damaging	Het
Cdh20	C	A	1: 110,027,757 (GRCm39)	Q501K	probably damaging	Het
Cwc27	T	C	13: 104,929,145 (GRCm39)	D266G	probably benign	Het
Cyp2d40	T	A	15: 82,645,334 (GRCm39)		probably null	Het
Cyp4a32	T	G	4: 115,467,731 (GRCm39)	N238K	probably benign	Het
Ddx11	T	C	17: 66,456,251 (GRCm39)	L770P	probably damaging	Het
Dgcr8	C	T	16: 18,098,155 (GRCm39)	G412E	probably damaging	Het
Disp2	C	A	2: 118,622,064 (GRCm39)	A932D	probably damaging	Het
Dlg4	T	A	11: 69,922,572 (GRCm39)	N291K	possibly damaging	Het
Dnajc7	A	G	11: 100,492,556 (GRCm39)	I39T	probably damaging	Het
Elp1	G	A	4: 56,786,666 (GRCm39)	Q426*	probably null	Het
Eno3	T	C	11: 70,552,296 (GRCm39)	V316A	probably damaging	Het
Ep400	G	A	5: 110,874,768 (GRCm39)	T944I	probably benign	Het
Ezh2	T	G	6: 47,529,424 (GRCm39)		probably null	Het
F7	A	T	8: 13,084,783 (GRCm39)	I270F	possibly damaging	Het
Fancc	A	G	13: 63,488,246 (GRCm39)	F245L	probably benign	Het
Fzd7	G	A	1: 59,522,165 (GRCm39)	C16Y	possibly damaging	Het
Gm29394	A	G	15: 57,892,008 (GRCm39)	*200Q	probably null	Het
Ints8	A	G	4: 11,245,722 (GRCm39)		probably null	Het
Krt36	A	T	11: 99,993,128 (GRCm39)	I449N	probably damaging	Het
Ldlr	A	T	9: 21,649,209 (GRCm39)	H328L	probably damaging	Het
Limk2	T	C	11: 3,303,455 (GRCm39)	N101S	possibly damaging	Het
Lrp4	A	G	2: 91,306,650 (GRCm39)	N321S	probably benign	Het
Mafk	T	C	5: 139,785,900 (GRCm39)	S33P	probably damaging	Het
Mbtps1	T	C	8: 120,244,958 (GRCm39)	Y831C	probably damaging	Het
Mfge8	T	A	7: 78,784,513 (GRCm39)	I344F	probably damaging	Het
Myo5b	T	C	18: 74,867,061 (GRCm39)	V1430A	probably benign	Het
Nbas	G	A	12: 13,608,686 (GRCm39)	R2154H	probably benign	Het
Nlrp6	G	A	7: 140,502,959 (GRCm39)	R355H	probably damaging	Het
Noc4l	T	C	5: 110,800,889 (GRCm39)	T76A	probably benign	Het
Nrp1	T	A	8: 129,202,763 (GRCm39)	C583S	probably damaging	Het
Or2w4	C	T	13: 21,796,083 (GRCm39)	D19N	probably benign	Het
Or5d35	T	A	2: 87,855,477 (GRCm39)	M137K	probably damaging	Het
Pgm5	T	A	19: 24,793,113 (GRCm39)	I318F	probably damaging	Het
Phf1	T	A	17: 27,156,466 (GRCm39)	V536D	probably damaging	Het
Prpf4b	C	A	13: 35,076,133 (GRCm39)	A641D	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm47	A	G	5: 66,182,334 (GRCm39)	I433T	probably benign	Het
Resf1	G	T	6: 149,228,018 (GRCm39)	V355F	probably damaging	Het
S100a3	G	A	3: 90,509,618 (GRCm39)	E88K	probably benign	Het
Sesn1	A	G	10: 41,687,108 (GRCm39)	I31V	probably benign	Het
Son	T	A	16: 91,456,606 (GRCm39)	S1784R	probably damaging	Het
Srbd1	G	T	17: 86,292,865 (GRCm39)	D901E	probably damaging	Het
Synpo2	T	A	3: 122,908,047 (GRCm39)	D423V	probably damaging	Het
Vmn2r108	A	G	17: 20,692,383 (GRCm39)	S158P	probably damaging	Het
Vmn2r109	A	T	17: 20,761,002 (GRCm39)	V785E	probably damaging	Het
Zfp143	A	G	7: 109,673,275 (GRCm39)	D124G	probably benign	Het
Zfp251	A	G	15: 76,754,484 (GRCm39)	L54P	probably damaging	Het
Zfp324	G	T	7: 12,704,570 (GRCm39)	S253I	possibly damaging	Het
Zfp59	A	G	7: 27,553,559 (GRCm39)	E337G	possibly damaging	Het
Zfp663	G	T	2: 165,195,437 (GRCm39)	Q261K	probably benign	Het
Zhx3	T	C	2: 160,623,613 (GRCm39)		probably null	Het

Other mutations in St8sia6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:St8sia6	APN	2	13,670,318 (GRCm39)	missense	probably damaging	1.00
IGL02153:St8sia6	APN	2	13,661,716 (GRCm39)	missense	probably damaging	1.00
IGL02302:St8sia6	APN	2	13,728,324 (GRCm39)	missense	probably benign	0.01
IGL02338:St8sia6	APN	2	13,798,156 (GRCm39)	missense	probably damaging	0.97
R0395:St8sia6	UTSW	2	13,670,247 (GRCm39)	missense	probably damaging	1.00
R0621:St8sia6	UTSW	2	13,662,093 (GRCm39)	missense	probably damaging	0.99
R0736:St8sia6	UTSW	2	13,673,696 (GRCm39)	missense	probably benign	0.12
R0969:St8sia6	UTSW	2	13,701,680 (GRCm39)	missense	probably benign	0.00
R1258:St8sia6	UTSW	2	13,661,695 (GRCm39)	missense	probably benign	0.00
R1931:St8sia6	UTSW	2	13,797,623 (GRCm39)	missense	probably benign	0.00
R3717:St8sia6	UTSW	2	13,661,745 (GRCm39)	missense	possibly damaging	0.79
R3892:St8sia6	UTSW	2	13,677,335 (GRCm39)	missense	probably benign	0.00
R4518:St8sia6	UTSW	2	13,797,562 (GRCm39)	splice site	probably null
R4763:St8sia6	UTSW	2	13,677,341 (GRCm39)	missense	probably damaging	0.97
R4933:St8sia6	UTSW	2	13,670,253 (GRCm39)	missense	probably damaging	1.00
R5323:St8sia6	UTSW	2	13,798,188 (GRCm39)	missense	possibly damaging	0.64
R7199:St8sia6	UTSW	2	13,661,721 (GRCm39)	missense	probably damaging	1.00
R8843:St8sia6	UTSW	2	13,661,896 (GRCm39)	missense	possibly damaging	0.67
R8937:St8sia6	UTSW	2	13,701,705 (GRCm39)	missense	probably damaging	1.00
Z1176:St8sia6	UTSW	2	13,701,664 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GGTGGAGGGCTGAAAGCACTTATC -3'
(R):5'- AGGAACTCTTGCCTGCCTGACTTG -3'

Sequencing Primer
(F):5'- tggggatggagtggtagag -3'
(R):5'- GACTTCTTTTTGAAACTCGGCAG -3'

Posted On

2014-04-24