Mutagenetix > Incidental Mutation

Incidental Mutation 'R0863:St3gal4'

82201

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

039037-MU

Accession Numbers

Essential gene?

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

Stock #

R0863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34957872-35028160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34964744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 155 (V155F)

Ref Sequence

ENSEMBL: ENSMUSP00000149827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034537] [ENSMUST00000213526] [ENSMUST00000214526] [ENSMUST00000215089] [ENSMUST00000215463] [ENSMUST00000215638] [ENSMUST00000216557] [ENSMUST00000217542] [ENSMUST00000217149]

AlphaFold

Q91Y74

Predicted Effect

probably damaging
Transcript: ENSMUST00000034537
AA Change: V121F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034537
Gene: ENSMUSG00000032038
AA Change: V121F

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 damaging
Transcript: ENSMUST00000213526
AA Change: V142F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214526
AA Change: V155F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215089

Predicted Effect

probably benign
Transcript: ENSMUST00000215463

Predicted Effect

probably benign
Transcript: ENSMUST00000215638

Predicted Effect

probably damaging
Transcript: ENSMUST00000216557
AA Change: V158F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000217542

Predicted Effect

probably benign
Transcript: ENSMUST00000217149

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

94% (59/63)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,327,232 (GRCm39)		noncoding transcript	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abca14	A	T	7: 119,815,453 (GRCm39)	T234S	probably benign	Het
Acap1	C	A	11: 69,777,882 (GRCm39)	V119L	probably damaging	Het
Actr2	C	T	11: 20,030,760 (GRCm39)	V163I	probably benign	Het
Adcy4	T	C	14: 56,021,056 (GRCm39)	Y27C	probably damaging	Het
Arnt2	T	A	7: 83,914,792 (GRCm39)	K524M	probably damaging	Het
Brca1	T	C	11: 101,415,596 (GRCm39)	Y846C	probably benign	Het
Capn7	T	A	14: 31,091,714 (GRCm39)	C704S	possibly damaging	Het
Cep350	T	A	1: 155,737,981 (GRCm39)	I2621L	probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,848,748 (GRCm39)		probably null	Het
Erc2	A	C	14: 27,747,105 (GRCm39)	N345T	probably benign	Het
Fank1	A	G	7: 133,482,352 (GRCm39)	R73G	possibly damaging	Het
Fes	A	T	7: 80,030,634 (GRCm39)	W552R	probably damaging	Het
Fsd2	A	G	7: 81,191,913 (GRCm39)	V488A	possibly damaging	Het
Gfm1	T	C	3: 67,381,928 (GRCm39)	S705P	probably damaging	Het
Gm9493	A	T	19: 23,597,173 (GRCm39)	Q23L	probably benign	Het
Gucy1b2	T	C	14: 62,656,511 (GRCm39)	D282G	probably benign	Het
H2-Ab1	T	C	17: 34,486,328 (GRCm39)	I129T	probably damaging	Het
H2-M10.3	T	A	17: 36,677,582 (GRCm39)	Y232F	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Lonp1	T	C	17: 56,925,331 (GRCm39)	K487R	probably damaging	Het
Ltbp1	A	G	17: 75,559,381 (GRCm39)	Y290C	probably damaging	Het
Ms4a10	C	T	19: 10,945,957 (GRCm39)	G58D	probably damaging	Het
Muc5b	A	G	7: 141,421,454 (GRCm39)	S4315G	probably benign	Het
Nlrp1b	T	A	11: 71,072,173 (GRCm39)	T557S	probably benign	Het
Nlrp3	A	G	11: 59,456,676 (GRCm39)	D946G	probably benign	Het
Obscn	T	C	11: 58,886,241 (GRCm39)		probably benign	Het
Oga	C	T	19: 45,771,425 (GRCm39)	A49T	probably benign	Het
Or10ab5	A	G	7: 108,244,865 (GRCm39)	I306T	probably benign	Het
Or5p50	T	C	7: 107,422,581 (GRCm39)	S32G	probably benign	Het
Or7e173	A	T	9: 19,938,509 (GRCm39)	S242T	probably damaging	Het
Pask	A	T	1: 93,242,061 (GRCm39)	F1219I	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Phf1	T	C	17: 27,156,114 (GRCm39)		probably benign	Het
Plec	G	A	15: 76,058,280 (GRCm39)	Q3751*	probably null	Het
Plscr1l1	A	T	9: 92,233,140 (GRCm39)	I88L	possibly damaging	Het
Ppp1r12c	G	T	7: 4,489,365 (GRCm39)	Q240K	probably damaging	Het
Ralgapa1	A	T	12: 55,809,466 (GRCm39)	Y436*	probably null	Het
Ralgapa1	C	A	12: 55,829,562 (GRCm39)		probably benign	Het
Scel	T	A	14: 103,823,916 (GRCm39)	S381R	possibly damaging	Het
Sema4a	C	T	3: 88,355,456 (GRCm39)		probably benign	Het
Sltm	A	G	9: 70,469,190 (GRCm39)	T150A	probably benign	Het
Spag1	G	T	15: 36,192,193 (GRCm39)	K217N	probably damaging	Het
Ssh1	C	T	5: 114,104,792 (GRCm39)	R9H	probably damaging	Het
Stxbp5	C	T	10: 9,684,784 (GRCm39)	E539K	possibly damaging	Het
Tbc1d7	G	T	13: 43,308,161 (GRCm39)		probably benign	Het
Thnsl2	A	T	6: 71,111,208 (GRCm39)	L220*	probably null	Het
Tinf2	G	A	14: 55,917,566 (GRCm39)	P308S	probably benign	Het
Tnf	T	C	17: 35,420,120 (GRCm39)		probably benign	Het
Ttc21b	T	C	2: 66,073,117 (GRCm39)	I190V	probably benign	Het
Ttn	T	C	2: 76,537,391 (GRCm39)	T34846A	probably benign	Het
Ube4a	A	G	9: 44,861,114 (GRCm39)	V232A	possibly damaging	Het
Uri1	A	T	7: 37,669,100 (GRCm39)	D122E	probably damaging	Het
Vmn2r94	T	G	17: 18,477,973 (GRCm39)	Q146P	probably damaging	Het
Zan	T	A	5: 137,456,901 (GRCm39)	E1278D	unknown	Het
Zfhx4	T	A	3: 5,310,375 (GRCm39)	S919R	possibly 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
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
R8080:St3gal4	UTSW	9	35,017,617 (GRCm39)	splice site	probably null
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'- CCAGCCACAGGAGCATTGTTCAATC -3'
(R):5'- TCACAACGACTTAGCCTGAGCATC -3'

Sequencing Primer
(F):5'- TTCAATCTGGCCCAGGAAAAG -3'
(R):5'- ccaagttacaagtgtgtgcc -3'

Posted On

2013-11-08