Mutagenetix > Incidental Mutation

Incidental Mutation 'R8347:St3gal1'

645329

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

067867-MU

Accession Numbers

Essential gene?

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

Stock #

R8347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66974724-67048575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66985511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 48 (R48C)

Ref Sequence

ENSEMBL: ENSMUSP00000090307 (fasta)

Gene Model

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

AlphaFold

P54751

Predicted Effect

probably damaging
Transcript: ENSMUST00000092640
AA Change: R48C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090307
Gene: ENSMUSG00000013846
AA Change: R48C

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 damaging
Transcript: ENSMUST00000229028
AA Change: R48C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229213
AA Change: R48C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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
1700123K08Rik	T	A	5: 138,561,153 (GRCm39)	I170L	probably benign	Het
Adamts15	C	T	9: 30,813,846 (GRCm39)	R773Q	probably benign	Het
Ankib1	A	G	5: 3,797,065 (GRCm39)	L249P	probably damaging	Het
Cabin1	A	G	10: 75,578,201 (GRCm39)	F499L	probably damaging	Het
Cdhr17	G	A	5: 17,006,572 (GRCm39)	M96I	probably benign	Het
Clec12b	C	T	6: 129,357,450 (GRCm39)		probably null	Het
Col23a1	G	A	11: 51,462,083 (GRCm39)	G373D	probably damaging	Het
Cse1l	C	T	2: 166,769,505 (GRCm39)	T304I	possibly damaging	Het
D6Wsu163e	T	A	6: 126,932,251 (GRCm39)	L330*	probably null	Het
Dbi	A	C	1: 120,048,550 (GRCm39)	L32R	possibly damaging	Het
Dennd2c	A	G	3: 103,065,025 (GRCm39)	Y716C	probably damaging	Het
Dnah5	G	A	15: 28,236,812 (GRCm39)	M379I	possibly damaging	Het
Dpys	T	C	15: 39,720,709 (GRCm39)	D17G	probably benign	Het
Dync2h1	C	T	9: 7,116,578 (GRCm39)	S2319N	possibly damaging	Het
Dyrk2	T	C	10: 118,695,888 (GRCm39)	K457E	probably damaging	Het
Efs	A	G	14: 55,157,241 (GRCm39)	C357R	probably benign	Het
Egfr	T	A	11: 16,828,174 (GRCm39)	W516R	probably damaging	Het
Folh1	T	A	7: 86,378,326 (GRCm39)	R529*	probably null	Het
Fsip2	A	C	2: 82,818,198 (GRCm39)	I4644L	probably benign	Het
Garnl3	T	C	2: 32,975,903 (GRCm39)	Y66C	probably damaging	Het
Gli3	T	C	13: 15,898,110 (GRCm39)	L730P	probably damaging	Het
Gm19668	T	C	10: 77,634,221 (GRCm39)	*249W	probably null	Het
Ighv2-6-8	T	C	12: 113,759,947 (GRCm39)	D54G	probably benign	Het
Irs2	C	A	8: 11,058,000 (GRCm39)	S144I	possibly damaging	Het
Itgb5	T	C	16: 33,761,048 (GRCm39)	C628R	probably damaging	Het
Kcnh4	A	T	11: 100,648,575 (GRCm39)	V43D	probably damaging	Het
Krtap16-3	A	T	16: 88,759,507 (GRCm39)	Y69N	unknown	Het
Lcn12	A	C	2: 25,382,045 (GRCm39)	D176E	possibly damaging	Het
Lilrb4b	T	A	10: 51,357,850 (GRCm39)	F181L	probably damaging	Het
Med13l	T	A	5: 118,880,662 (GRCm39)	H1251Q	probably benign	Het
Nppb	C	A	4: 148,070,756 (GRCm39)	L44M	probably damaging	Het
Nutm2	T	C	13: 50,626,373 (GRCm39)	V320A	probably benign	Het
Or4b1b	A	T	2: 90,112,020 (GRCm39)	W300R	probably benign	Het
Or52a24	A	G	7: 103,381,150 (GRCm39)	S6G	probably benign	Het
Or5ae2	C	T	7: 84,505,963 (GRCm39)	P131S	probably damaging	Het
Or5ak4	T	A	2: 85,162,047 (GRCm39)	H65L	probably damaging	Het
Padi6	T	C	4: 140,462,719 (GRCm39)	M301V	probably benign	Het
Pappa	G	A	4: 65,245,302 (GRCm39)	R1530Q	probably damaging	Het
Pcgf6	C	T	19: 47,034,277 (GRCm39)	D255N	possibly damaging	Het
Pgap3	TCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAG	11: 98,281,575 (GRCm39)		probably benign	Het
Phip	A	G	9: 82,790,816 (GRCm39)	I710T	probably benign	Het
Pla2r1	A	T	2: 60,365,247 (GRCm39)	Y108N	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Rint1	C	G	5: 24,016,770 (GRCm39)	L512V	probably damaging	Het
Sdad1	A	C	5: 92,446,088 (GRCm39)	F282L	probably benign	Het
Sirt5	G	T	13: 43,533,977 (GRCm39)	A189S	probably benign	Het
Slc14a1	T	C	18: 78,154,646 (GRCm39)	T247A	probably benign	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
Slfn3	A	G	11: 83,104,415 (GRCm39)	K429E	possibly damaging	Het
Spag17	T	C	3: 99,934,957 (GRCm39)	F721S	probably benign	Het
Spata31d1e	T	A	13: 59,890,050 (GRCm39)	D590V	possibly damaging	Het
Sult2a6	A	G	7: 13,959,883 (GRCm39)	Y217H	probably benign	Het
Synj2	A	G	17: 6,060,060 (GRCm39)	N394S	probably damaging	Het
Telo2	A	T	17: 25,323,611 (GRCm39)	Y605*	probably null	Het
Trank1	T	A	9: 111,196,317 (GRCm39)	L1447Q	probably damaging	Het
Trim56	A	G	5: 137,141,446 (GRCm39)	L690P	probably damaging	Het
Trmt13	T	C	3: 116,376,417 (GRCm39)	T325A	probably benign	Het
Ttn	T	A	2: 76,539,811 (GRCm39)	T34392S	probably benign	Het
Uncx	A	G	5: 139,532,571 (GRCm39)	E212G	probably damaging	Het
Ush2a	A	G	1: 188,679,281 (GRCm39)	T4830A	probably benign	Het
Usp34	C	A	11: 23,362,345 (GRCm39)	T1616N		Het
Vars1	C	T	17: 35,234,953 (GRCm39)	L1261F	possibly damaging	Het
Vmn1r223	T	C	13: 23,434,020 (GRCm39)	S205P	probably damaging	Het
Vmn2r118	A	T	17: 55,917,423 (GRCm39)	I363K	possibly damaging	Het
Vmn2r69	A	T	7: 85,064,838 (GRCm39)	M16K	probably benign	Het
Wdr62	G	A	7: 29,962,128 (GRCm39)	T428I	possibly damaging	Het
Yeats4	A	T	10: 117,053,374 (GRCm39)	L129Q	probably benign	Het
Zfp423	T	C	8: 88,509,784 (GRCm39)	R187G	probably damaging	Het
Zfp853	A	T	5: 143,274,702 (GRCm39)	L321Q	unknown	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
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
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'- AGACCCTATTCTGCTCACCAG -3'
(R):5'- AGCTGCTTCTGAGATCTCCC -3'

Sequencing Primer
(F):5'- AGCCACCACCGGTATGTGTC -3'
(R):5'- TCTGAGATCTCCCTGCGGAC -3'

Posted On

2020-09-02