Mutagenetix > Incidental Mutation

Incidental Mutation 'R7784:St8sia5'

599475

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

045840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7784 (G1)

Quality Score

214.009

Status

Validated

Chromosome

Chromosomal Location

77185853-77255450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77254550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 319 (S319G)

Ref Sequence

ENSEMBL: ENSMUSP00000074764 (fasta)

Gene Model

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

AlphaFold

P70126

Predicted Effect

probably benign
Transcript: ENSMUST00000075290
AA Change: S319G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: S319G

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
AA Change: S283G

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: S283G

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828 (GRCm38)		probably null	Het
3425401B19Rik	A	T	14: 32,659,840 (GRCm38)	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417 (GRCm38)	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411 (GRCm38)	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989 (GRCm38)	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882 (GRCm38)	W653*	probably null	Het
Akap13	T	A	7: 75,610,328 (GRCm38)	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474 (GRCm38)		probably null	Het
Cacna1d	T	A	14: 30,123,439 (GRCm38)	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218 (GRCm38)	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040 (GRCm38)	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396 (GRCm38)		probably null	Het
Ddx6	T	C	9: 44,630,142 (GRCm38)		probably null	Het
Epb42	T	G	2: 121,034,435 (GRCm38)	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587 (GRCm38)	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122 (GRCm38)	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499 (GRCm38)	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594 (GRCm38)	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119 (GRCm38)	D355N		Het
Ffar2	T	C	7: 30,819,258 (GRCm38)	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932 (GRCm38)		probably null	Het
Ganc	G	A	2: 120,436,668 (GRCm38)	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193 (GRCm38)		probably null	Het
Ifi207	T	A	1: 173,730,132 (GRCm38)	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841 (GRCm38)	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147 (GRCm38)	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692 (GRCm38)		probably null	Het
Krt39	A	T	11: 99,521,031 (GRCm38)	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495 (GRCm38)	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780 (GRCm38)	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413 (GRCm38)		probably null	Het
Med23	C	T	10: 24,902,448 (GRCm38)	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591 (GRCm38)		probably null	Het
Mtmr6	A	G	14: 60,300,445 (GRCm38)	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340 (GRCm38)	V683M		Het
Neb	T	A	2: 52,235,488 (GRCm38)	M506L		Het
Olfr103	A	G	17: 37,337,055 (GRCm38)	F59S	probably damaging	Het
Olfr103	T	C	17: 37,336,578 (GRCm38)	Y218C	probably benign	Het
Olfr1154	G	A	2: 87,903,193 (GRCm38)	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388 (GRCm38)	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863 (GRCm38)	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532 (GRCm38)	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082 (GRCm38)	T350A		Het
Rbp3	A	T	14: 33,954,158 (GRCm38)	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658 (GRCm38)	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048 (GRCm38)	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695 (GRCm38)	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444 (GRCm38)	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008 (GRCm38)	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225 (GRCm38)	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776 (GRCm38)	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388 (GRCm38)	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252 (GRCm38)	R68G	unknown	Het
Spta1	G	A	1: 174,202,451 (GRCm38)	D928N	probably damaging	Het
Tmem208	A	G	8: 105,328,833 (GRCm38)	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103 (GRCm38)	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994 (GRCm38)	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701 (GRCm38)	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305 (GRCm38)	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157 (GRCm38)	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592 (GRCm38)	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943 (GRCm38)	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158 (GRCm38)	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240 (GRCm38)		probably benign	Het
Zfp775	A	G	6: 48,619,249 (GRCm38)	Q19R	possibly damaging	Het

Other mutations in St8sia5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:St8sia5	APN	18	77,254,662 (GRCm38)	missense	probably damaging	1.00
IGL01320:St8sia5	APN	18	77,254,622 (GRCm38)	missense	probably damaging	1.00
IGL01682:St8sia5	APN	18	77,248,500 (GRCm38)	missense	probably damaging	0.99
IGL01984:St8sia5	APN	18	77,248,461 (GRCm38)	missense	probably benign	0.03
ANU22:St8sia5	UTSW	18	77,254,662 (GRCm38)	missense	probably damaging	1.00
R0194:St8sia5	UTSW	18	77,254,724 (GRCm38)	missense	probably benign	0.13
R0392:St8sia5	UTSW	18	77,254,406 (GRCm38)	missense	probably damaging	1.00
R0622:St8sia5	UTSW	18	77,246,113 (GRCm38)	missense	probably damaging	1.00
R0696:St8sia5	UTSW	18	77,254,464 (GRCm38)	missense	probably damaging	1.00
R1231:St8sia5	UTSW	18	77,232,806 (GRCm38)	missense	probably damaging	0.97
R1559:St8sia5	UTSW	18	77,211,764 (GRCm38)	critical splice donor site	probably null
R2058:St8sia5	UTSW	18	77,254,763 (GRCm38)	missense	probably damaging	1.00
R2059:St8sia5	UTSW	18	77,254,763 (GRCm38)	missense	probably damaging	1.00
R2268:St8sia5	UTSW	18	77,232,830 (GRCm38)	missense	probably damaging	0.99
R4399:St8sia5	UTSW	18	77,253,018 (GRCm38)	missense	probably damaging	1.00
R4926:St8sia5	UTSW	18	77,254,782 (GRCm38)	missense	possibly damaging	0.84
R5986:St8sia5	UTSW	18	77,254,782 (GRCm38)	missense	possibly damaging	0.84
R6301:St8sia5	UTSW	18	77,246,140 (GRCm38)	missense	probably damaging	0.98
R7020:St8sia5	UTSW	18	77,246,180 (GRCm38)	missense	probably damaging	0.97
R7087:St8sia5	UTSW	18	77,254,542 (GRCm38)	missense	possibly damaging	0.88
R8037:St8sia5	UTSW	18	77,248,542 (GRCm38)	missense	possibly damaging	0.95
R8153:St8sia5	UTSW	18	77,253,111 (GRCm38)	critical splice donor site	probably null
R8544:St8sia5	UTSW	18	77,254,418 (GRCm38)	missense	probably damaging	1.00
R8858:St8sia5	UTSW	18	77,232,815 (GRCm38)	missense	probably benign	0.01
R8906:St8sia5	UTSW	18	77,248,476 (GRCm38)	missense	probably damaging	1.00
R8980:St8sia5	UTSW	18	77,246,065 (GRCm38)	critical splice acceptor site	probably null
R9294:St8sia5	UTSW	18	77,254,829 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGCAGGTTCCACAAGTTG -3'
(R):5'- GTGAAGATCTCCGAGGGCATAG -3'

Sequencing Primer
(F):5'- CACAAGTTGGAGAAGTGGCG -3'
(R):5'- CATAGCATGGAAACCCGGCTTG -3'

Posted On

2019-11-26