Mutagenetix > Incidental Mutation

Incidental Mutation 'R7860:St3gal1'

607459

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

045913-MU

Accession Numbers

Essential gene?

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

Stock #

R7860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66974724-67048575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66983114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 214 (V214A)

Ref Sequence

ENSEMBL: ENSMUSP00000090307 (fasta)

Gene Model

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

AlphaFold

P54751

Predicted Effect

probably benign
Transcript: ENSMUST00000092640
AA Change: V214A

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090307
Gene: ENSMUSG00000013846
AA Change: V214A

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: V214A

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000229213
AA Change: V214A

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,905,707 (GRCm39)	T493A	probably damaging	Het
Aars1	A	G	8: 111,776,493 (GRCm39)	K650E	probably benign	Het
Abcb1b	C	T	5: 8,882,258 (GRCm39)	S793F	probably benign	Het
Adamts18	T	A	8: 114,501,908 (GRCm39)	I318F	probably damaging	Het
Adcy8	A	G	15: 64,571,322 (GRCm39)	I1137T	probably damaging	Het
Ambra1	T	A	2: 91,603,838 (GRCm39)	F607L	probably benign	Het
Ankrd46	A	T	15: 36,479,566 (GRCm39)	V175D	possibly damaging	Het
Arhgap28	C	A	17: 68,208,277 (GRCm39)	E114*	probably null	Het
Arrdc1	C	T	2: 24,816,158 (GRCm39)	G282S	probably damaging	Het
Atp1a3	A	T	7: 24,681,216 (GRCm39)	L790Q	probably damaging	Het
Bend5	T	A	4: 111,272,406 (GRCm39)	V12D	probably damaging	Het
Bod1l	C	T	5: 41,976,608 (GRCm39)	E1569K	probably damaging	Het
Cdc123	T	A	2: 5,808,775 (GRCm39)	I234L	probably benign	Het
Cep126	T	G	9: 8,120,749 (GRCm39)	E91D	probably damaging	Het
Cep89	T	A	7: 35,113,570 (GRCm39)	D199E	possibly damaging	Het
Ces1d	T	C	8: 93,897,765 (GRCm39)	T442A	probably benign	Het
Chsy3	C	T	18: 59,542,299 (GRCm39)	A479V	probably benign	Het
Clcn4	C	A	7: 7,296,060 (GRCm39)	G261C	probably damaging	Het
Clhc1	A	T	11: 29,507,651 (GRCm39)		probably null	Het
Cnot3	T	A	7: 3,658,565 (GRCm39)		probably null	Het
Col9a1	C	A	1: 24,276,261 (GRCm39)	P723H	probably damaging	Het
Crybg3	A	T	16: 59,375,605 (GRCm39)	M169K	probably benign	Het
Cxxc4	A	G	3: 133,963,814 (GRCm39)	R353G	probably benign	Het
Dennd3	A	T	15: 73,412,657 (GRCm39)	I440F	probably damaging	Het
Dnai3	A	G	3: 145,772,675 (GRCm39)	L457P	probably damaging	Het
Elmo3	G	T	8: 106,035,649 (GRCm39)	S553I	probably damaging	Het
Elovl2	A	G	13: 41,340,943 (GRCm39)	Y198H	probably benign	Het
Epm2aip1	A	G	9: 111,101,105 (GRCm39)	Y26C	probably damaging	Het
Ext1	A	C	15: 52,953,335 (GRCm39)	C510G	possibly damaging	Het
Extl3	A	T	14: 65,314,938 (GRCm39)	D81E	probably benign	Het
Fbxl5	T	A	5: 43,916,018 (GRCm39)	T465S	probably benign	Het
Fbxo31	G	A	8: 122,291,384 (GRCm39)		probably null	Het
Gabrr2	A	T	4: 33,081,470 (GRCm39)	K169*	probably null	Het
Haus4	A	G	14: 54,779,602 (GRCm39)	Y341H	probably damaging	Het
Itgae	A	T	11: 73,011,099 (GRCm39)		probably null	Het
Jmjd7	C	T	2: 119,860,996 (GRCm39)	H149Y	possibly damaging	Het
Kcnh2	C	T	5: 24,529,561 (GRCm39)	C725Y	probably damaging	Het
Mroh1	C	T	15: 76,331,532 (GRCm39)	P1252L	probably benign	Het
Ms4a14	A	G	19: 11,280,308 (GRCm39)	F750S	probably benign	Het
Naf1	T	A	8: 67,313,165 (GRCm39)	D49E	unknown	Het
Notch3	T	C	17: 32,341,747 (GRCm39)	T2002A	possibly damaging	Het
Or10q12	T	A	19: 13,745,716 (GRCm39)	D3E	probably benign	Het
Or14c44	A	G	7: 86,057,119 (GRCm39)		probably benign	Het
Or1e33	A	T	11: 73,738,333 (GRCm39)	I206N	probably benign	Het
Or2d3c	A	T	7: 106,525,777 (GRCm39)	D296E	probably benign	Het
Or2l13b	A	T	16: 19,349,167 (GRCm39)	C168S	probably damaging	Het
Or7e175	A	T	9: 20,048,871 (GRCm39)	N153I	probably benign	Het
Or9s23	G	A	1: 92,501,810 (GRCm39)	D306N	probably benign	Het
Pck1	A	G	2: 172,997,743 (GRCm39)	T271A	possibly damaging	Het
Penk	A	G	4: 4,133,976 (GRCm39)	W224R	possibly damaging	Het
Per2	C	A	1: 91,372,481 (GRCm39)	V198F	probably damaging	Het
Phf11d	A	G	14: 59,599,280 (GRCm39)	M23T	probably damaging	Het
Pla2g4d	A	G	2: 120,097,211 (GRCm39)	V796A	probably benign	Het
Pramel51	A	T	12: 88,143,122 (GRCm39)	N360K	possibly damaging	Het
Prdx6	A	T	1: 161,069,428 (GRCm39)		probably null	Het
Prep	A	T	10: 44,967,108 (GRCm39)	N47I	probably damaging	Het
Prodh2	A	T	7: 30,212,064 (GRCm39)		probably null	Het
Prss38	G	T	11: 59,265,996 (GRCm39)	H96N	probably damaging	Het
Rab11a	C	A	9: 64,635,613 (GRCm39)	E47*	probably null	Het
Rad18	C	T	6: 112,626,798 (GRCm39)	G369D	probably benign	Het
Rragc	T	C	4: 123,823,717 (GRCm39)	V330A	probably damaging	Het
Serpina9	A	T	12: 103,967,680 (GRCm39)	H238Q	probably benign	Het
Serpinb3b	T	A	1: 107,085,467 (GRCm39)	K91N	probably damaging	Het
Slc16a12	T	G	19: 34,652,730 (GRCm39)	S139R	probably benign	Het
Slc22a27	T	A	19: 7,887,472 (GRCm39)		probably null	Het
Slc25a11	A	G	11: 70,536,005 (GRCm39)	V243A	probably benign	Het
Slc38a9	A	T	13: 112,868,148 (GRCm39)	I545F	probably benign	Het
Slc39a8	A	T	3: 135,590,157 (GRCm39)	H349L	probably damaging	Het
Slk	C	T	19: 47,630,510 (GRCm39)	T1227I	possibly damaging	Het
Spdye4b	A	G	5: 143,180,609 (GRCm39)	E25G	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
St7l	T	A	3: 104,833,893 (GRCm39)	M550K	probably benign	Het
Tbk1	A	C	10: 121,388,151 (GRCm39)	F638C	possibly damaging	Het
Tex101	A	T	7: 24,369,190 (GRCm39)	C114S	probably damaging	Het
Ttll13	A	G	7: 79,905,135 (GRCm39)	M384V	probably benign	Het
Ugt2b37	A	T	5: 87,402,189 (GRCm39)	D147E	probably damaging	Het
Vmn1r10	A	T	6: 57,090,686 (GRCm39)	T93S	probably benign	Het
Wasl	G	A	6: 24,619,396 (GRCm39)	P375S	unknown	Het
Zfp236	C	A	18: 82,692,481 (GRCm39)	E165*	probably null	Het
Zfp839	A	T	12: 110,822,060 (GRCm39)	R291S	probably damaging	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
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
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'- TTCCAGAGAGTTTGAAGGAAGC -3'
(R):5'- AACTCCAGCATCCTTACTGAGTAC -3'

Sequencing Primer
(F):5'- CTATAGCACAAAGTTTGGAGTATGG -3'
(R):5'- CATCCTTACTGAGTACCCTATTTTTC -3'

Posted On

2019-12-20