Mutagenetix > Incidental Mutation

Incidental Mutation 'R8984:St3gal4'

683899

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

068817-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34957872-35028160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34966944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2 (V2A)

Ref Sequence

ENSEMBL: ENSMUSP00000150841 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000213526
AA Change: V2A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214526
AA Change: V15A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215089
AA Change: V2A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000215463

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215638
AA Change: V13A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216557
AA Change: V18A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000217149

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217542
AA Change: V13A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,180,880 (GRCm39)	V10E	probably benign	Het
Adss2	A	T	1: 177,601,280 (GRCm39)		probably benign	Het
AI467606	A	T	7: 126,691,673 (GRCm39)	I83F	probably damaging	Het
Atn1	A	T	6: 124,723,923 (GRCm39)	W437R	unknown	Het
Atxn7l2	T	C	3: 108,116,290 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,734,936 (GRCm39)	F750S	possibly damaging	Het
B3gnt6	A	G	7: 97,842,821 (GRCm39)	S380P	probably benign	Het
Bod1l	T	C	5: 41,946,215 (GRCm39)	Q3020R	probably damaging	Het
Borcs6	A	T	11: 68,950,828 (GRCm39)	I69F	probably benign	Het
Brd7	T	A	8: 89,081,340 (GRCm39)	M170L	probably benign	Het
Ccdc191	T	A	16: 43,710,581 (GRCm39)		probably benign	Het
Cit	C	T	5: 116,064,534 (GRCm39)	T472I	possibly damaging	Het
Ddx25	G	T	9: 35,468,685 (GRCm39)	D57E	probably benign	Het
Dnah7a	A	T	1: 53,674,436 (GRCm39)	L447*	probably null	Het
Epb41l3	A	G	17: 69,554,641 (GRCm39)	D247G	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etaa1	A	T	11: 17,890,254 (GRCm39)	V869E	probably damaging	Het
Exoc8	T	A	8: 125,622,769 (GRCm39)	I533F	probably benign	Het
Fam117a	A	G	11: 95,254,823 (GRCm39)		probably null	Het
Fam222a	C	T	5: 114,749,092 (GRCm39)	T96I	possibly damaging	Het
Farsa	C	T	8: 85,594,228 (GRCm39)	T326I	probably damaging	Het
Fkbp1b	T	A	12: 4,891,401 (GRCm39)	D12V	probably damaging	Het
Garin3	C	A	11: 46,295,695 (GRCm39)	Y22*	probably null	Het
Gc	C	T	5: 89,589,421 (GRCm39)		probably null	Het
Git2	T	C	5: 114,868,256 (GRCm39)	E705G	probably damaging	Het
Gm10318	G	A	10: 77,689,078 (GRCm39)	C128Y	unknown	Het
H3c3	C	A	13: 23,929,393 (GRCm39)	A30S	probably benign	Het
Hcar2	G	A	5: 124,002,571 (GRCm39)	R311*	probably null	Het
Hira	A	G	16: 18,746,261 (GRCm39)	Q468R	possibly damaging	Het
Hspa1l	T	C	17: 35,197,092 (GRCm39)	V377A	probably damaging	Het
Igkv2-137	T	A	6: 67,532,659 (GRCm39)	W14R	probably damaging	Het
Itga3	A	T	11: 94,953,391 (GRCm39)	L317Q	probably damaging	Het
Jade2	A	C	11: 51,715,906 (GRCm39)	L433W	probably damaging	Het
Kif21a	T	C	15: 90,840,559 (GRCm39)	T1186A	probably benign	Het
Krtap28-10	C	A	1: 83,019,894 (GRCm39)	C82F	unknown	Het
Ksr1	G	A	11: 78,931,709 (GRCm39)	T333M	probably damaging	Het
Msi1	T	C	5: 115,573,598 (GRCm39)	F132S	probably damaging	Het
Myo7b	C	A	18: 32,099,402 (GRCm39)	K1673N	probably null	Het
Myom3	T	A	4: 135,515,255 (GRCm39)	N716K		Het
Ndst4	G	A	3: 125,515,810 (GRCm39)	G312R	probably damaging	Het
Ndufaf2	A	G	13: 108,189,316 (GRCm39)	V144A	probably benign	Het
Omd	T	C	13: 49,743,576 (GRCm39)	S209P	possibly damaging	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or2t47	G	C	11: 58,442,209 (GRCm39)	N285K	probably damaging	Het
Or51b17	G	A	7: 103,542,816 (GRCm39)	T42I	probably benign	Het
Or51e1	T	A	7: 102,359,219 (GRCm39)	I251N	possibly damaging	Het
Or52a24	T	C	7: 103,381,220 (GRCm39)	I29T	probably damaging	Het
Or52e3	T	C	7: 102,869,393 (GRCm39)	L156P	possibly damaging	Het
Patl1	T	A	19: 11,898,760 (GRCm39)	Y152N	probably damaging	Het
Plaur	T	A	7: 24,164,577 (GRCm39)	M27K	probably benign	Het
Ppfia2	T	A	10: 106,694,439 (GRCm39)		probably benign	Het
Ppfia3	A	G	7: 44,990,100 (GRCm39)	V1142A	probably damaging	Het
Psg28	T	A	7: 18,156,981 (GRCm39)	N418I	probably damaging	Het
Ptprd	A	T	4: 75,863,251 (GRCm39)	F1237I	probably damaging	Het
Ptprj	G	A	2: 90,270,987 (GRCm39)	P1247L	probably damaging	Het
Rbms3	A	T	9: 116,524,886 (GRCm39)		probably null	Het
Rgs18	A	G	1: 144,629,566 (GRCm39)	V231A	probably benign	Het
Rnf112	T	C	11: 61,343,277 (GRCm39)	R156G	possibly damaging	Het
Rsad1	A	C	11: 94,439,010 (GRCm39)	V150G	probably damaging	Het
Rxrg	G	A	1: 167,462,005 (GRCm39)	V350I	possibly damaging	Het
Sash1	A	G	10: 8,626,808 (GRCm39)	I192T	possibly damaging	Het
Slc25a36	G	A	9: 96,961,259 (GRCm39)	T259I	probably benign	Het
Smarcd3	T	A	5: 24,798,986 (GRCm39)	E324V	probably null	Het
Stk17b	A	C	1: 53,796,784 (GRCm39)	S328A	probably benign	Het
Tbrg1	A	G	9: 37,563,949 (GRCm39)	Y229H	probably damaging	Het
Tdg	A	G	10: 82,484,514 (GRCm39)	N409S	probably benign	Het
Terb1	T	C	8: 105,212,036 (GRCm39)	E315G	possibly damaging	Het
Tmem131	A	G	1: 36,867,228 (GRCm39)	F402L	probably benign	Het
Trav4-2	T	C	14: 53,656,190 (GRCm39)	I64T	probably benign	Het
Trav4-4-dv10	A	G	14: 53,921,574 (GRCm39)	T91A	probably benign	Het
Xdh	C	T	17: 74,228,346 (GRCm39)	G352R	probably damaging	Het
Zfp551	C	A	7: 12,156,559 (GRCm39)		probably benign	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
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
R9258:St3gal4	UTSW	9	34,963,643 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGTCAGGATAAGAAGAGTGTC -3'
(R):5'- AGTTCCCCTTCCTGTAGCAG -3'

Sequencing Primer
(F):5'- ATAAGAAGAGTGTCCTTGGCTCC -3'
(R):5'- TAGCAGGGCTCCACCTAGATTC -3'

Posted On

2021-10-11