Mutagenetix > Incidental Mutation

Incidental Mutation 'R8080:St3gal4'

643753

Institutional Source

Beutler Lab

Gene Symbol

St3gal4

Ensembl Gene

ENSMUSG00000032038

Gene Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

Synonyms

ST3Gal IV, Siat4c

MMRRC Submission

067513-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8080 (G1)

Quality Score

85.0131

Status

Validated

Chromosome

Chromosomal Location

34957872-35028160 bp(-) (GRCm39)

Type of Mutation

splice site (254 bp from exon)

DNA Base Change (assembly)

T to C at 35017617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034537] [ENSMUST00000213526] [ENSMUST00000215089] [ENSMUST00000216557]

AlphaFold

Q91Y74

Predicted Effect

probably benign
Transcript: ENSMUST00000034537

SMART Domains

Protein: ENSMUSP00000034537
Gene: ENSMUSG00000032038

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_transf_29	70	332	4.1e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213526

Predicted Effect

probably benign
Transcript: ENSMUST00000215089

Predicted Effect

probably null
Transcript: ENSMUST00000216557

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 94.9%

Validation Efficiency

100% (64/64)

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 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygotes for a null allele show thrombocytopenia, altered platelet physiology, increased bleeding times, and abnormal leukocyte migration. Homozygotes for a different null allele fail to develop seizures in response to kindling, and show anxiety-like behaviors and altered sleep patterns. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	G	11: 69,023,900 (GRCm39)	Q277R	probably damaging	Het
Anapc5	T	C	5: 122,945,401 (GRCm39)	N226D	probably damaging	Het
Arb2a	T	A	13: 78,154,565 (GRCm39)	L316Q	probably damaging	Het
Bcl2l11	T	C	2: 127,970,586 (GRCm39)	C12R	probably damaging	Het
Bpnt1	A	G	1: 185,084,406 (GRCm39)	T168A	probably damaging	Het
Brca2	A	T	5: 150,463,357 (GRCm39)	E1040D	probably benign	Het
Cdca2	G	A	14: 67,915,004 (GRCm39)	Q752*	probably null	Het
Cntn2	T	C	1: 132,449,536 (GRCm39)	D635G	probably damaging	Het
Cntnap5b	A	T	1: 99,999,928 (GRCm39)	I229F	probably benign	Het
Ctr9	G	A	7: 110,650,774 (GRCm39)	E900K	possibly damaging	Het
Dmbt1	A	G	7: 130,690,500 (GRCm39)	Y911C	unknown	Het
Egflam	T	A	15: 7,427,561 (GRCm39)	D2V	probably benign	Het
Enpep	A	T	3: 129,092,783 (GRCm39)	N505K	probably damaging	Het
Fam13a	A	G	6: 58,933,790 (GRCm39)	S267P	probably damaging	Het
Fancc	G	T	13: 63,550,837 (GRCm39)	T12K		Het
Fbxo3	A	G	2: 103,864,012 (GRCm39)	Y89C	probably damaging	Het
Garem2	A	G	5: 30,313,385 (GRCm39)	Y83C	probably damaging	Het
Gm17079	T	C	14: 51,930,480 (GRCm39)	T122A		Het
Gm3696	A	T	14: 18,435,071 (GRCm39)	L71*	probably null	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gmip	A	T	8: 70,268,736 (GRCm39)	T454S	possibly damaging	Het
Helz2	T	A	2: 180,880,055 (GRCm39)	T554S	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrc	A	G	7: 44,986,262 (GRCm39)	E471G	probably damaging	Het
Hydin	A	G	8: 111,261,863 (GRCm39)	I2655V	probably benign	Het
Ighv1-64	T	C	12: 115,471,463 (GRCm39)	H18R	probably benign	Het
Jcad	A	G	18: 4,649,270 (GRCm39)	Y47C	probably benign	Het
Jmjd4	A	G	11: 59,341,179 (GRCm39)	T37A	probably benign	Het
Kalrn	C	T	16: 33,796,038 (GRCm39)	G2915S	possibly damaging	Het
Kdm5d	T	C	Y: 910,742 (GRCm39)	F285L	probably benign	Het
Lmna	A	G	3: 88,393,868 (GRCm39)	F237L	probably damaging	Het
Med12l	A	G	3: 59,172,607 (GRCm39)	K1788E	probably damaging	Het
Mrgprb1	T	C	7: 48,096,658 (GRCm39)		probably null	Het
Myh1	T	A	11: 67,102,228 (GRCm39)	Y840N	probably benign	Het
Negr1	C	A	3: 156,866,357 (GRCm39)	A302E	probably damaging	Het
Nup188	T	C	2: 30,227,045 (GRCm39)	V1206A	possibly damaging	Het
Nup205	T	C	6: 35,204,311 (GRCm39)	L1399P	probably damaging	Het
Or13a20	T	C	7: 140,232,387 (GRCm39)	M165T	probably benign	Het
Or4a81	T	A	2: 89,618,971 (GRCm39)	I242F	possibly damaging	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Or6c69b	T	C	10: 129,626,997 (GRCm39)	I154V	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,885 (GRCm39)	L288S	unknown	Het
Pcdhb4	A	G	18: 37,442,349 (GRCm39)	D553G	probably benign	Het
Phip	A	G	9: 82,769,662 (GRCm39)	L1147P	probably damaging	Het
Phlpp1	A	G	1: 106,320,706 (GRCm39)	D1567G	probably benign	Het
Pigz	T	C	16: 31,760,858 (GRCm39)	C20R	probably damaging	Het
Plpp1	A	G	13: 113,004,002 (GRCm39)	K252R	probably benign	Het
Polr2a	A	T	11: 69,625,874 (GRCm39)	S1759T	unknown	Het
Rbm42	G	T	7: 30,345,136 (GRCm39)	P212T	unknown	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Slc9a3	A	C	13: 74,314,146 (GRCm39)	Q818P	probably benign	Het
Stard3nl	G	T	13: 19,554,521 (GRCm39)	A151E	probably damaging	Het
Syt9	T	A	7: 107,035,997 (GRCm39)	I338N	probably benign	Het
Ticrr	A	T	7: 79,334,012 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,713 (GRCm39)	Y169N	probably damaging	Het
Tnc	A	C	4: 63,894,706 (GRCm39)	I1560S	possibly damaging	Het
Usp7	C	A	16: 8,515,771 (GRCm39)	D644Y	probably benign	Het
Utp20	A	G	10: 88,618,577 (GRCm39)	I1141T	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r60	A	G	7: 41,790,521 (GRCm39)	M503V	probably benign	Het
Zfp384	T	C	6: 125,013,521 (GRCm39)	S530P	unknown	Het
Zfp600	T	A	4: 146,133,182 (GRCm39)	C617S	unknown	Het
Zfp819	A	G	7: 43,267,148 (GRCm39)	R544G	probably damaging	Het

Other mutations in St3gal4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:St3gal4	APN	9	34,964,365 (GRCm39)	unclassified	probably benign
IGL01448:St3gal4	APN	9	34,963,627 (GRCm39)	missense	probably benign	0.00
IGL01770:St3gal4	APN	9	34,963,601 (GRCm39)	missense	possibly damaging	0.73
IGL02862:St3gal4	APN	9	34,963,543 (GRCm39)	missense	probably benign	0.32
fuji	UTSW	9	34,964,469 (GRCm39)	nonsense	probably null
Granny_smith	UTSW	9	34,964,558 (GRCm39)	missense	probably damaging	1.00
Pomology	UTSW	9	34,964,375 (GRCm39)	missense	possibly damaging	0.67
R0362:St3gal4	UTSW	9	34,964,469 (GRCm39)	nonsense	probably null
R0863:St3gal4	UTSW	9	34,964,744 (GRCm39)	missense	probably damaging	1.00
R1457:St3gal4	UTSW	9	34,966,053 (GRCm39)	missense	possibly damaging	0.66
R1530:St3gal4	UTSW	9	34,963,592 (GRCm39)	missense	probably benign	0.00
R4991:St3gal4	UTSW	9	34,964,432 (GRCm39)	missense	possibly damaging	0.93
R5452:St3gal4	UTSW	9	34,964,752 (GRCm39)	missense	probably damaging	1.00
R6277:St3gal4	UTSW	9	34,964,558 (GRCm39)	missense	probably damaging	1.00
R7564:St3gal4	UTSW	9	34,963,549 (GRCm39)	missense	probably benign	0.09
R7725:St3gal4	UTSW	9	34,964,375 (GRCm39)	missense	possibly damaging	0.67
R8356:St3gal4	UTSW	9	34,964,438 (GRCm39)	missense	probably damaging	1.00
R8936:St3gal4	UTSW	9	34,964,723 (GRCm39)	missense	probably damaging	1.00
R8984:St3gal4	UTSW	9	34,966,944 (GRCm39)	missense	possibly damaging	0.90
R9258:St3gal4	UTSW	9	34,963,643 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAGGAGCTAGTCAGACGC -3'
(R):5'- TATGTAGGAGGCCACTGTGCTG -3'

Sequencing Primer
(F):5'- CTAGTCAGACGCATGGGTG -3'
(R):5'- CCACTGTGCTGCTGTGTGC -3'

Posted On

2020-08-12