Mutagenetix > Incidental Mutation

Incidental Mutation 'R5061:St3gal1'

386645

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

042651-MU

Accession Numbers

Essential gene?

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

Stock #

R5061 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

66974724-67048575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66980078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 274 (S274T)

Ref Sequence

ENSEMBL: ENSMUSP00000155359 (fasta)

Gene Model

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

AlphaFold

P54751

Predicted Effect

probably benign
Transcript: ENSMUST00000092640
AA Change: S274T

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090307
Gene: ENSMUSG00000013846
AA Change: S274T

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
AA Change: S274T

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000229213
AA Change: S274T

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229742

Meta Mutation Damage Score

0.3028

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,450,953 (GRCm39)	H53R	probably benign	Het
Abcg1	A	G	17: 31,311,366 (GRCm39)	K124E	probably damaging	Het
Acot4	G	T	12: 84,085,475 (GRCm39)	R64L	probably benign	Het
Adam22	G	C	5: 8,230,238 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,064,029 (GRCm39)		probably null	Het
Adgrb3	G	A	1: 25,107,209 (GRCm39)		probably benign	Het
Akap8l	T	G	17: 32,551,868 (GRCm39)	K441T	probably damaging	Het
Aspn	T	A	13: 49,720,080 (GRCm39)	S365R	probably damaging	Het
Atxn1	T	G	13: 45,710,569 (GRCm39)	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,099,375 (GRCm39)	H135N	probably damaging	Het
Borcs8	T	G	8: 70,593,008 (GRCm39)		probably null	Het
Col5a1	G	A	2: 27,842,390 (GRCm39)	D422N	unknown	Het
Cstad	A	T	2: 30,498,275 (GRCm39)	T37S	unknown	Het
Dgkq	A	T	5: 108,801,989 (GRCm39)	D455E	probably benign	Het
Dop1a	T	C	9: 86,385,161 (GRCm39)		probably benign	Het
Ebf3	T	C	7: 136,915,288 (GRCm39)	I84V	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
Eya3	T	A	4: 132,431,689 (GRCm39)	D323E	probably damaging	Het
F5	T	C	1: 164,021,749 (GRCm39)	L1408P	probably benign	Het
Fam110d	T	C	4: 133,979,041 (GRCm39)	T146A	probably benign	Het
Gfod1	C	T	13: 43,353,992 (GRCm39)	G328S	probably benign	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Gm10650	T	A	3: 127,833,666 (GRCm39)		noncoding transcript	Het
Gm14226	T	A	2: 154,867,106 (GRCm39)	H354Q	probably benign	Het
Gm15056	T	C	8: 21,390,758 (GRCm39)	T60A	probably benign	Het
Hsd11b1	A	T	1: 192,924,553 (GRCm39)	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,843,742 (GRCm39)	I39M	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kdm7a	G	A	6: 39,128,386 (GRCm39)	P482S	possibly damaging	Het
Lama5	C	A	2: 179,840,579 (GRCm39)	E607*	probably null	Het
Lao1	T	A	4: 118,824,673 (GRCm39)	S252T	probably benign	Het
Lrp12	A	G	15: 39,741,650 (GRCm39)	F355S	probably damaging	Het
Mlycd	T	C	8: 120,137,043 (GRCm39)	F421S	probably damaging	Het
Nectin3	T	C	16: 46,268,812 (GRCm39)	E530G	probably benign	Het
Nifk	T	C	1: 118,260,669 (GRCm39)	*270R	probably null	Het
Ocln	T	C	13: 100,676,106 (GRCm39)	Y129C	probably damaging	Het
Or10ag60	C	T	2: 87,438,176 (GRCm39)	T148I	probably benign	Het
Or4f54	T	A	2: 111,122,832 (GRCm39)	L73H	probably damaging	Het
Or52l1	T	A	7: 104,829,864 (GRCm39)	I219F	possibly damaging	Het
Or5b117	A	T	19: 13,431,349 (GRCm39)	C177*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppcs	T	C	4: 119,276,412 (GRCm39)	K58E	probably damaging	Het
Prss38	T	C	11: 59,265,196 (GRCm39)	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,447,744 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,017,217 (GRCm39)	F54L	possibly damaging	Het
Rwdd3	G	A	3: 120,953,432 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,650,422 (GRCm39)	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,604,359 (GRCm39)		probably null	Het
Serpinb10	A	G	1: 107,468,701 (GRCm39)	T115A	probably benign	Het
Slco1a8	T	A	6: 141,954,414 (GRCm39)	M20L	probably benign	Het
Slx4ip	T	G	2: 136,885,930 (GRCm39)	F83L	probably damaging	Het
Stab1	A	C	14: 30,885,056 (GRCm39)	C121W	probably damaging	Het
Stab2	A	G	10: 86,743,249 (GRCm39)	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954 (GRCm39)	I77R	probably benign	Het
Tbk1	T	G	10: 121,412,241 (GRCm39)	E47A	possibly damaging	Het
Tert	C	T	13: 73,782,397 (GRCm39)	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,393,947 (GRCm39)	D252G	probably damaging	Het
Tll1	C	A	8: 64,506,983 (GRCm39)	C586F	probably damaging	Het
Tln2	T	G	9: 67,261,750 (GRCm39)	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945 (GRCm39)	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,627,542 (GRCm39)		probably null	Het
Unc79	T	A	12: 103,134,700 (GRCm39)	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,689,471 (GRCm39)	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840 (GRCm39)	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,315,741 (GRCm39)	S693A	probably benign	Het
Vps54	G	A	11: 21,269,881 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,907,318 (GRCm39)		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
R0452:St3gal1	UTSW	15	66,981,504 (GRCm39)	splice site	probably benign
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
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'- GACACTCTTACACATGCCTGG -3'
(R):5'- GTGTCCCCAGCACTAAATCC -3'

Sequencing Primer
(F):5'- CTCTTACACATGCCTGGTAAGAAAGG -3'
(R):5'- AATGCAAAGGTGTTTGTTAGAGCCC -3'

Posted On

2016-06-06