Mutagenetix > Incidental Mutation

Incidental Mutation 'R1559:St8sia5'

170523

Institutional Source

Beutler Lab

Gene Symbol

St8sia5

Ensembl Gene

ENSMUSG00000025425

Gene Name

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

Synonyms

ST8SiaV, Siat8e

MMRRC Submission

039598-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1559 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

77273529-77343146 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 77299460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074764 (fasta)

Gene Model

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

AlphaFold

P70126

Predicted Effect

probably null
Transcript: ENSMUST00000075290

SMART Domains

Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425

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 benign
Transcript: ENSMUST00000079618

SMART Domains

Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425

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

Meta Mutation Damage Score

0.9462

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

95% (73/77)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,180 (GRCm39)	W3585R	probably null	Het
Ajm1	G	T	2: 25,467,043 (GRCm39)	S956*	probably null	Het
Babam1	G	C	8: 71,850,424 (GRCm39)	E18Q	probably damaging	Het
Bcan	G	T	3: 87,901,519 (GRCm39)	S394R	probably damaging	Het
Birc6	T	A	17: 74,999,232 (GRCm39)	F4653L	probably damaging	Het
Camsap2	A	T	1: 136,209,832 (GRCm39)	H559Q	probably benign	Het
Cars2	G	T	8: 11,580,430 (GRCm39)		probably null	Het
Ccdc93	T	A	1: 121,389,712 (GRCm39)		probably benign	Het
Ccna2	C	A	3: 36,624,879 (GRCm39)		probably benign	Het
Cdc6	T	A	11: 98,803,037 (GRCm39)	L326I	probably damaging	Het
Cdh23	A	T	10: 60,255,478 (GRCm39)		probably benign	Het
Cenpe	T	A	3: 134,976,661 (GRCm39)	S2423T	probably benign	Het
Cftr	A	G	6: 18,225,936 (GRCm39)	M295V	probably benign	Het
Cxcl2	A	G	5: 91,051,871 (GRCm39)	H23R	probably benign	Het
Cyp4a12b	A	G	4: 115,291,181 (GRCm39)	T370A	probably damaging	Het
Daam2	A	G	17: 49,803,148 (GRCm39)		probably benign	Het
Dclk3	T	C	9: 111,298,276 (GRCm39)	F607L	probably damaging	Het
Des	T	G	1: 75,337,230 (GRCm39)	S57A	probably benign	Het
Drd1	A	T	13: 54,206,964 (GRCm39)	S410T	probably damaging	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fanci	T	C	7: 79,082,941 (GRCm39)	L639P	probably damaging	Het
Fancm	A	G	12: 65,140,463 (GRCm39)	E395G	probably benign	Het
Grik3	A	G	4: 125,601,790 (GRCm39)	D889G	probably benign	Het
Heyl	A	G	4: 123,135,192 (GRCm39)	S62G	probably damaging	Het
Hmox1	C	T	8: 75,826,577 (GRCm39)	P267L	probably damaging	Het
Ifi213	A	C	1: 173,394,784 (GRCm39)	S584A	probably benign	Het
Il12rb2	G	T	6: 67,333,576 (GRCm39)	F234L	probably benign	Het
Il4i1	T	A	7: 44,488,811 (GRCm39)	S233T	probably damaging	Het
Itga4	A	G	2: 79,146,032 (GRCm39)	S745G	probably benign	Het
Kalrn	T	A	16: 33,830,918 (GRCm39)	I734F	possibly damaging	Het
Klk1b16	T	C	7: 43,790,425 (GRCm39)	I200T	probably benign	Het
Lrrc4c	T	A	2: 97,461,117 (GRCm39)	M581K	probably benign	Het
M6pr	A	T	6: 122,292,033 (GRCm39)	I122L	probably benign	Het
Magi3	T	C	3: 103,954,169 (GRCm39)		probably benign	Het
Mybpc2	T	G	7: 44,163,111 (GRCm39)	T480P	probably benign	Het
Or14c44	T	C	7: 86,061,575 (GRCm39)	S43P	probably benign	Het
Or1j17	A	G	2: 36,578,770 (GRCm39)	Y252C	probably damaging	Het
Or51ab3	A	T	7: 103,201,372 (GRCm39)	I127F	possibly damaging	Het
Or8g23	T	C	9: 38,971,437 (GRCm39)	N175S	probably benign	Het
Pcx	T	A	19: 4,669,114 (GRCm39)	I704N	probably damaging	Het
Pde3a	G	T	6: 141,404,824 (GRCm39)	A350S	probably damaging	Het
Ppox	A	T	1: 171,107,580 (GRCm39)		probably benign	Het
Prb1a	T	A	6: 132,185,507 (GRCm39)	Y42F	unknown	Het
Rsph4a	T	A	10: 33,785,727 (GRCm39)	V546E	probably damaging	Het
Saxo4	T	C	19: 10,458,770 (GRCm39)	T87A	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sh3tc1	A	G	5: 35,860,693 (GRCm39)		probably null	Het
Slc22a2	T	C	17: 12,803,298 (GRCm39)	F44S	probably damaging	Het
Slco6c1	T	A	1: 97,026,223 (GRCm39)	D334V	probably damaging	Het
Smim19	T	C	8: 22,953,352 (GRCm39)	D105G	probably damaging	Het
Smpdl3a	A	G	10: 57,683,588 (GRCm39)	T233A	probably damaging	Het
Stk32a	C	A	18: 43,376,149 (GRCm39)	Q73K	probably benign	Het
Tmem129	G	T	5: 33,815,100 (GRCm39)		probably null	Het
Traf3ip3	A	T	1: 192,860,599 (GRCm39)	L441Q	probably damaging	Het
Ttn	C	T	2: 76,731,305 (GRCm39)		probably benign	Het
Unc45b	T	C	11: 82,808,672 (GRCm39)	S253P	possibly damaging	Het
Vars2	A	G	17: 35,977,150 (GRCm39)		probably benign	Het
Vmn2r51	C	T	7: 9,836,372 (GRCm39)	M136I	possibly damaging	Het
Vmn2r51	A	G	7: 9,836,373 (GRCm39)	M136T	possibly damaging	Het
Zfp595	T	C	13: 67,465,127 (GRCm39)	I379V	possibly damaging	Het

Other mutations in St8sia5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:St8sia5	APN	18	77,342,358 (GRCm39)	missense	probably damaging	1.00
IGL01320:St8sia5	APN	18	77,342,318 (GRCm39)	missense	probably damaging	1.00
IGL01682:St8sia5	APN	18	77,336,196 (GRCm39)	missense	probably damaging	0.99
IGL01984:St8sia5	APN	18	77,336,157 (GRCm39)	missense	probably benign	0.03
ANU22:St8sia5	UTSW	18	77,342,358 (GRCm39)	missense	probably damaging	1.00
R0194:St8sia5	UTSW	18	77,342,420 (GRCm39)	missense	probably benign	0.13
R0392:St8sia5	UTSW	18	77,342,102 (GRCm39)	missense	probably damaging	1.00
R0622:St8sia5	UTSW	18	77,333,809 (GRCm39)	missense	probably damaging	1.00
R0696:St8sia5	UTSW	18	77,342,160 (GRCm39)	missense	probably damaging	1.00
R1231:St8sia5	UTSW	18	77,320,502 (GRCm39)	missense	probably damaging	0.97
R2058:St8sia5	UTSW	18	77,342,459 (GRCm39)	missense	probably damaging	1.00
R2059:St8sia5	UTSW	18	77,342,459 (GRCm39)	missense	probably damaging	1.00
R2268:St8sia5	UTSW	18	77,320,526 (GRCm39)	missense	probably damaging	0.99
R4399:St8sia5	UTSW	18	77,340,714 (GRCm39)	missense	probably damaging	1.00
R4926:St8sia5	UTSW	18	77,342,478 (GRCm39)	missense	possibly damaging	0.84
R5986:St8sia5	UTSW	18	77,342,478 (GRCm39)	missense	possibly damaging	0.84
R6301:St8sia5	UTSW	18	77,333,836 (GRCm39)	missense	probably damaging	0.98
R7020:St8sia5	UTSW	18	77,333,876 (GRCm39)	missense	probably damaging	0.97
R7087:St8sia5	UTSW	18	77,342,238 (GRCm39)	missense	possibly damaging	0.88
R7784:St8sia5	UTSW	18	77,342,246 (GRCm39)	missense	probably benign	0.36
R8037:St8sia5	UTSW	18	77,336,238 (GRCm39)	missense	possibly damaging	0.95
R8153:St8sia5	UTSW	18	77,340,807 (GRCm39)	critical splice donor site	probably null
R8544:St8sia5	UTSW	18	77,342,114 (GRCm39)	missense	probably damaging	1.00
R8858:St8sia5	UTSW	18	77,320,511 (GRCm39)	missense	probably benign	0.01
R8906:St8sia5	UTSW	18	77,336,172 (GRCm39)	missense	probably damaging	1.00
R8980:St8sia5	UTSW	18	77,333,761 (GRCm39)	critical splice acceptor site	probably null
R9294:St8sia5	UTSW	18	77,342,525 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGTACCAGTGTGTATATCCATTGCC -3'
(R):5'- GCCATATAGACACAGCTCTTGTTCCC -3'

Sequencing Primer
(F):5'- GCCTCATTTTCTTGCCAGAG -3'
(R):5'- TCCCACATATTAATGGGGGC -3'

Posted On

2014-04-13