Mutagenetix > Incidental Mutation

Incidental Mutation 'R8202:St3gal3'

635702

Institutional Source

Beutler Lab

Gene Symbol

St3gal3

Ensembl Gene

ENSMUSG00000028538

Gene Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 3

Synonyms

Siat6, Siat3, ST3Gal III

MMRRC Submission

067625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8202 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117789351-117992111 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 117964868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030263] [ENSMUST00000097912] [ENSMUST00000106410]

AlphaFold

P97325

Predicted Effect

probably benign
Transcript: ENSMUST00000030263

SMART Domains

Protein: ENSMUSP00000030263
Gene: ENSMUSG00000028538

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	37	47	N/A	INTRINSIC
Pfam:Glyco_transf_29	102	373	5.7e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097912

SMART Domains

Protein: ENSMUSP00000095525
Gene: ENSMUSG00000028538

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Glyco_transf_29	86	357	5.4e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106410

SMART Domains

Protein: ENSMUSP00000102018
Gene: ENSMUSG00000028538

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	37	47	N/A	INTRINSIC
Pfam:Glyco_transf_29	106	372	4.7e-63	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (50/50)

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 catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene show an apparently normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,057 (GRCm39)	R36C	probably benign	Het
B020011L13Rik	A	T	1: 117,728,874 (GRCm39)	H127L	probably damaging	Het
B4galt4	A	G	16: 38,588,274 (GRCm39)	Q306R	probably benign	Het
Bckdha	G	A	7: 25,329,738 (GRCm39)	H431Y	probably damaging	Het
Cacna1e	T	A	1: 154,274,195 (GRCm39)	M2256L	probably benign	Het
Ccar1	A	T	10: 62,607,768 (GRCm39)	F298L	possibly damaging	Het
Ceacam3	G	A	7: 16,896,953 (GRCm39)	A640T		Het
Cers3	A	G	7: 66,435,761 (GRCm39)	D240G	probably damaging	Het
Ces1d	T	C	8: 93,919,495 (GRCm39)	E99G	probably benign	Het
Dnah2	A	G	11: 69,369,649 (GRCm39)	V1609A	probably benign	Het
Fer1l6	T	C	15: 58,502,486 (GRCm39)	F1329S	probably damaging	Het
Fry	A	G	5: 150,355,202 (GRCm39)	Q1825R	probably damaging	Het
Guf1	C	A	5: 69,720,545 (GRCm39)	A335E	possibly damaging	Het
Heatr6	C	A	11: 83,650,234 (GRCm39)	T230K	possibly damaging	Het
Klhl11	G	A	11: 100,354,150 (GRCm39)	S557L	probably benign	Het
Map10	A	G	8: 126,397,647 (GRCm39)	N347D	possibly damaging	Het
Myh7	T	C	14: 55,227,497 (GRCm39)	I313V	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nmral1	G	A	16: 4,532,448 (GRCm39)	T131M	probably damaging	Het
Npr1	T	A	3: 90,368,731 (GRCm39)	Y443F	probably benign	Het
Ntn4	A	G	10: 93,480,765 (GRCm39)	N163S	possibly damaging	Het
Nufip1	A	G	14: 76,348,604 (GRCm39)	I78V	probably benign	Het
Oplah	C	T	15: 76,186,669 (GRCm39)	G670D	probably benign	Het
Or51a24	A	G	7: 103,734,198 (GRCm39)	S30P	probably benign	Het
Or5j3	A	T	2: 86,128,968 (GRCm39)	E269D	probably benign	Het
Or6c69b	T	C	10: 129,626,518 (GRCm39)	*313W	probably null	Het
Pcnx1	T	G	12: 81,941,821 (GRCm39)	I73S	probably benign	Het
Pigp	A	T	16: 94,165,528 (GRCm39)	N204K	probably benign	Het
Prelid2	T	A	18: 42,065,802 (GRCm39)	I78F	possibly damaging	Het
Ptprb	A	G	10: 116,189,750 (GRCm39)	Y1516C	probably damaging	Het
Rab31	T	C	17: 65,974,881 (GRCm39)	E157G	probably damaging	Het
Rars2	T	C	4: 34,656,180 (GRCm39)	Y445H	probably damaging	Het
Rnf220	T	A	4: 117,347,070 (GRCm39)	H114L	probably damaging	Het
Ryr1	A	G	7: 28,790,457 (GRCm39)	W1450R	probably benign	Het
Slamf6	A	G	1: 171,761,786 (GRCm39)	Y69C	probably benign	Het
Smc3	T	C	19: 53,617,123 (GRCm39)	I512T	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Tbc1d23	A	G	16: 57,011,917 (GRCm39)	F338L	probably damaging	Het
Tgs1	G	A	4: 3,586,097 (GRCm39)	A325T	probably benign	Het
Tmem30a	A	T	9: 79,681,494 (GRCm39)	I261K	probably damaging	Het
Trim3	A	T	7: 105,260,632 (GRCm39)	H662Q	possibly damaging	Het
Unc13c	C	T	9: 73,643,844 (GRCm39)	V1207M	probably damaging	Het
Vmn1r91	A	T	7: 19,835,749 (GRCm39)	I223F	probably damaging	Het
Vmn2r33	A	T	7: 7,557,153 (GRCm39)	C516S	possibly damaging	Het
Vps13c	T	C	9: 67,851,328 (GRCm39)	V2321A	probably damaging	Het
Zan	G	T	5: 137,387,589 (GRCm39)	T4874K	unknown	Het
Zfp677	T	C	17: 21,613,535 (GRCm39)	L43S	probably damaging	Het
Zfp709	A	G	8: 72,642,760 (GRCm39)		probably null	Het

Other mutations in St3gal3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:St3gal3	APN	4	117,889,072 (GRCm39)	missense	probably damaging	1.00
IGL02004:St3gal3	APN	4	117,817,236 (GRCm39)	missense	possibly damaging	0.90
IGL02339:St3gal3	APN	4	117,815,759 (GRCm39)	missense	probably damaging	1.00
IGL03186:St3gal3	APN	4	117,797,251 (GRCm39)	missense	possibly damaging	0.93
giovanni	UTSW	4	117,817,204 (GRCm39)	missense	possibly damaging	0.84
Leporello	UTSW	4	117,814,633 (GRCm39)	missense
R0598:St3gal3	UTSW	4	117,964,829 (GRCm39)	missense	probably benign	0.38
R1466:St3gal3	UTSW	4	117,964,859 (GRCm39)	start codon destroyed	probably null
R1466:St3gal3	UTSW	4	117,964,859 (GRCm39)	start codon destroyed	probably null
R1474:St3gal3	UTSW	4	117,871,983 (GRCm39)	missense	probably damaging	1.00
R1584:St3gal3	UTSW	4	117,964,859 (GRCm39)	start codon destroyed	probably null
R1585:St3gal3	UTSW	4	117,817,204 (GRCm39)	missense	possibly damaging	0.84
R1696:St3gal3	UTSW	4	117,797,589 (GRCm39)	missense	possibly damaging	0.52
R1735:St3gal3	UTSW	4	117,871,971 (GRCm39)	missense	probably damaging	1.00
R1958:St3gal3	UTSW	4	117,797,268 (GRCm39)	missense	probably damaging	0.96
R4008:St3gal3	UTSW	4	117,797,637 (GRCm39)	missense	probably benign	0.34
R4700:St3gal3	UTSW	4	117,817,232 (GRCm39)	missense	probably benign	0.01
R5434:St3gal3	UTSW	4	117,797,247 (GRCm39)	missense	probably damaging	1.00
R6257:St3gal3	UTSW	4	117,964,875 (GRCm39)	start gained	probably benign
R6854:St3gal3	UTSW	4	117,815,727 (GRCm39)	missense	probably benign	0.00
R7218:St3gal3	UTSW	4	117,814,639 (GRCm39)	missense
R7304:St3gal3	UTSW	4	117,814,633 (GRCm39)	missense
R7569:St3gal3	UTSW	4	117,821,553 (GRCm39)	missense	probably benign	0.09
R7783:St3gal3	UTSW	4	117,797,320 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CAACTAGAGCGGCGGTTTTAG -3'
(R):5'- AATCTGCCGTCCACAGGAAC -3'

Sequencing Primer
(F):5'- TATGCCTCCGTCCCGCAG -3'
(R):5'- CCGTCCACAGGAACAAGGAG -3'

Posted On

2020-07-13