Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:St3gal1'

39720

Institutional Source

Beutler Lab

Gene Symbol

St3gal1

Ensembl Gene

ENSMUSG00000013846

Gene Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 1

Synonyms

Siat4a, CMP-N-acetylneuraminate: [beta-galactosidase alpha-2,3] sialytransferase, ST3GalI, Siat4

MMRRC Submission

038652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R0452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66974724-67048575 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 66981504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092640] [ENSMUST00000229028] [ENSMUST00000229213]

AlphaFold

P54751

Predicted Effect

probably benign
Transcript: ENSMUST00000092640

SMART Domains

Protein: ENSMUSP00000090307
Gene: ENSMUSG00000013846

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Glyco_transf_29	80	336	1.7e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229028

Predicted Effect

probably benign
Transcript: ENSMUST00000229213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230150

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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 but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in altered terminal glycosylation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 107,233,822 (GRCm39)		probably benign	Het
Acap3	C	A	4: 155,986,785 (GRCm39)	S347*	probably null	Het
Acvr1	G	A	2: 58,390,507 (GRCm39)	P19L	probably benign	Het
Add2	G	T	6: 86,081,611 (GRCm39)	E366*	probably null	Het
Ankrd28	C	A	14: 31,470,695 (GRCm39)	A153S	probably damaging	Het
Anxa8	A	T	14: 33,816,727 (GRCm39)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,771,403 (GRCm39)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,416,416 (GRCm39)	A1120T	unknown	Het
Atad5	T	C	11: 79,997,247 (GRCm39)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,868,058 (GRCm39)		probably null	Het
Atxn1l	C	T	8: 110,459,027 (GRCm39)	V412I	possibly damaging	Het
Card11	A	G	5: 140,866,125 (GRCm39)	S923P	probably benign	Het
Cars1	C	A	7: 143,146,362 (GRCm39)	E21*	probably null	Het
Ccdc115	A	G	1: 34,476,702 (GRCm39)		probably benign	Het
Ccnj	T	A	19: 40,833,508 (GRCm39)		probably null	Het
Cds2	C	T	2: 132,140,399 (GRCm39)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,549,248 (GRCm39)	H213R	probably benign	Het
Cfap44	A	T	16: 44,252,308 (GRCm39)	M806L	probably benign	Het
Chd8	A	T	14: 52,452,044 (GRCm39)	I1317K	probably damaging	Het
Cherp	A	T	8: 73,215,366 (GRCm39)		probably benign	Het
Creb5	C	G	6: 53,581,527 (GRCm39)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,215,333 (GRCm39)	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,466,187 (GRCm39)	D330A	probably benign	Het
Ddost	G	A	4: 138,037,499 (GRCm39)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,644,978 (GRCm39)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,833,057 (GRCm39)	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,704,668 (GRCm39)	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,868,193 (GRCm39)	T35M	probably damaging	Het
Emc7	T	C	2: 112,297,314 (GRCm39)		probably benign	Het
Erp27	T	C	6: 136,886,487 (GRCm39)	Y182C	probably damaging	Het
Exoc2	T	A	13: 31,070,310 (GRCm39)		probably benign	Het
F5	A	C	1: 164,012,676 (GRCm39)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,808,686 (GRCm39)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,455,164 (GRCm39)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,467,124 (GRCm39)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,758,793 (GRCm39)	D443V	possibly damaging	Het
Il17rd	T	A	14: 26,813,888 (GRCm39)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,356,779 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,261 (GRCm39)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,443,675 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,503 (GRCm39)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,363,553 (GRCm39)		probably benign	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,705,036 (GRCm39)	V113A	probably benign	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Nisch	T	A	14: 30,899,421 (GRCm39)		probably benign	Het
Nlrp4d	G	A	7: 10,112,219 (GRCm39)	T650I	probably benign	Het
Or4f61	T	A	2: 111,922,981 (GRCm39)	K22*	probably null	Het
Or5p78	C	T	7: 108,211,577 (GRCm39)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,886,300 (GRCm39)	D1793G	unknown	Het
Pcm1	A	G	8: 41,778,942 (GRCm39)	D1850G	probably benign	Het
Pgap2	G	A	7: 101,885,669 (GRCm39)	A145T	probably damaging	Het
Phc1	G	A	6: 122,299,995 (GRCm39)	A583V	probably damaging	Het
Plcd3	G	A	11: 102,962,085 (GRCm39)		probably benign	Het
Ppm1m	T	A	9: 106,074,501 (GRCm39)	Q214L	probably damaging	Het
Prkg2	A	G	5: 99,145,379 (GRCm39)		probably benign	Het
Prss3l	A	G	6: 41,422,271 (GRCm39)	Y45H	probably benign	Het
Rasal3	T	C	17: 32,614,791 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,421,640 (GRCm39)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,452,587 (GRCm39)	L522H	probably damaging	Het
Setd2	T	A	9: 110,382,168 (GRCm39)		probably null	Het
Sik1	C	A	17: 32,068,055 (GRCm39)	V377F	possibly damaging	Het
Slc44a4	T	C	17: 35,147,071 (GRCm39)	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,103,954 (GRCm39)	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,051,806 (GRCm39)	N313I	possibly damaging	Het
Smc4	A	T	3: 68,915,361 (GRCm39)	K138*	probably null	Het
Smg6	T	A	11: 74,821,039 (GRCm39)	S437T	probably benign	Het
Spaca9	G	T	2: 28,586,005 (GRCm39)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,152,493 (GRCm39)	I41S	probably damaging	Het
Spink5	A	T	18: 44,096,385 (GRCm39)	T5S	possibly damaging	Het
Stat5a	C	A	11: 100,753,961 (GRCm39)	T97K	probably benign	Het
Stat5b	A	T	11: 100,689,156 (GRCm39)	I246N	probably benign	Het
Supt6	G	T	11: 78,117,829 (GRCm39)	D462E	probably damaging	Het
Swi5	A	T	2: 32,171,836 (GRCm39)		probably benign	Het
Syne1	A	T	10: 5,355,435 (GRCm39)	V375E	probably damaging	Het
Tcp1	T	C	17: 13,143,239 (GRCm39)	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,288,289 (GRCm39)	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,380 (GRCm39)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,336,281 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,768,220 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,701,454 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,666,347 (GRCm39)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,672,479 (GRCm39)		probably benign	Het
Ufc1	C	T	1: 171,117,527 (GRCm39)		probably benign	Het
Uhmk1	A	G	1: 170,039,971 (GRCm39)	M132T	possibly damaging	Het
Usp29	A	G	7: 6,966,181 (GRCm39)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,903,469 (GRCm39)	V103A	possibly damaging	Het
Wdr59	G	T	8: 112,248,604 (GRCm39)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,284,372 (GRCm39)	E914D	probably benign	Het

Other mutations in St3gal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:St3gal1	APN	15	66,984,466 (GRCm39)	missense	probably benign	0.03
Benelux	UTSW	15	66,985,634 (GRCm39)	nonsense	probably null
Lichtenstein	UTSW	15	66,980,086 (GRCm39)	missense	possibly damaging	0.87
Luxembourg	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
Monaco	UTSW	15	66,985,511 (GRCm39)	missense	probably damaging	0.99
Strasbourg	UTSW	15	66,978,522 (GRCm39)	missense	probably damaging	0.99
R0478:St3gal1	UTSW	15	66,985,579 (GRCm39)	missense	probably damaging	1.00
R0735:St3gal1	UTSW	15	66,985,536 (GRCm39)	missense	probably benign
R2357:St3gal1	UTSW	15	66,985,631 (GRCm39)	missense	probably benign	0.01
R5061:St3gal1	UTSW	15	66,980,078 (GRCm39)	missense	probably benign	0.40
R5199:St3gal1	UTSW	15	66,985,564 (GRCm39)	missense	probably benign	0.00
R5734:St3gal1	UTSW	15	66,978,522 (GRCm39)	missense	probably damaging	0.99
R5828:St3gal1	UTSW	15	66,985,634 (GRCm39)	nonsense	probably null
R6370:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6371:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6373:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6385:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6387:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6388:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6417:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6420:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6421:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6462:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6463:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6469:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6473:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6474:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6759:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6760:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6894:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R6963:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R7250:St3gal1	UTSW	15	66,978,578 (GRCm39)	missense	possibly damaging	0.89
R7394:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R7588:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R7590:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R7591:St3gal1	UTSW	15	66,983,195 (GRCm39)	missense	possibly damaging	0.52
R7860:St3gal1	UTSW	15	66,983,114 (GRCm39)	missense	probably benign	0.38
R7954:St3gal1	UTSW	15	66,984,422 (GRCm39)	missense	probably damaging	1.00
R8346:St3gal1	UTSW	15	66,985,511 (GRCm39)	missense	probably damaging	0.99
R8347:St3gal1	UTSW	15	66,985,511 (GRCm39)	missense	probably damaging	0.99
R8348:St3gal1	UTSW	15	66,985,511 (GRCm39)	missense	probably damaging	0.99
R8895:St3gal1	UTSW	15	66,980,086 (GRCm39)	missense	possibly damaging	0.87
R9765:St3gal1	UTSW	15	66,981,499 (GRCm39)	missense	possibly damaging	0.83
Z1177:St3gal1	UTSW	15	66,983,216 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TGTCCTTAGCAGCAAAGATGCCC -3'
(R):5'- ATTCTGGCCCATCAAGCCATAGAAC -3'

Sequencing Primer
(F):5'- GTGCACCATCATAGCACCAAATC -3'
(R):5'- acccaccccctcacctc -3'

Posted On

2013-05-23