Mutagenetix > Incidental Mutation

Incidental Mutation 'R5761:St6gal1'

445329

Institutional Source

Beutler Lab

Gene Symbol

St6gal1

Ensembl Gene

ENSMUSG00000022885

Gene Name

beta galactoside alpha 2,6 sialyltransferase 1

Synonyms

St6Gal-I, Siat1, ST6Gal I

MMRRC Submission

043363-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R5761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23224740-23360350 bp(+) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to G at 23321055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023601] [ENSMUST00000115335] [ENSMUST00000128050] [ENSMUST00000178797]

AlphaFold

Q64685

Predicted Effect

probably benign
Transcript: ENSMUST00000023601

SMART Domains

Protein: ENSMUSP00000023601
Gene: ENSMUSG00000022885

Domain	Start	End	E-Value	Type
transmembrane domain	9	26	N/A	INTRINSIC
Pfam:Glyco_transf_29	127	389	2.3e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115335

SMART Domains

Protein: ENSMUSP00000110992
Gene: ENSMUSG00000022885

Domain	Start	End	E-Value	Type
transmembrane domain	9	26	N/A	INTRINSIC
Pfam:Glyco_transf_29	140	383	8.3e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152449

Predicted Effect

probably benign
Transcript: ENSMUST00000178797

SMART Domains

Protein: ENSMUSP00000136206
Gene: ENSMUSG00000022885

Domain	Start	End	E-Value	Type
transmembrane domain	9	26	N/A	INTRINSIC
Pfam:Glyco_transf_29	127	389	2.3e-63	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Nov 2011]
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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,210,101 (GRCm38)	V953D	probably damaging	Het
Abcb8	T	C	5: 24,405,881 (GRCm38)		probably benign	Het
Acad12	A	T	5: 121,604,180 (GRCm38)		probably benign	Het
Adam2	A	T	14: 66,046,146 (GRCm38)	C436S	probably damaging	Het
Aebp2	T	C	6: 140,624,217 (GRCm38)		probably benign	Het
Akap8	A	T	17: 32,317,185 (GRCm38)	C85S	possibly damaging	Het
Aldh1a3	C	A	7: 66,419,179 (GRCm38)	R19L	probably damaging	Het
Baz2a	A	G	10: 128,119,690 (GRCm38)	T848A	possibly damaging	Het
Bud13	C	T	9: 46,288,052 (GRCm38)	A237V	probably benign	Het
Cbarp	CGCCTCTGCTGCCTCT	CGCCTCT	10: 80,132,233 (GRCm38)		probably benign	Het
Ccdc187	G	A	2: 26,276,092 (GRCm38)	P775L	possibly damaging	Het
Ccz1	C	T	5: 143,992,510 (GRCm38)	G367R	probably damaging	Het
Cep104	T	C	4: 153,981,224 (GRCm38)	V56A	possibly damaging	Het
Chd6	C	A	2: 160,957,078 (GRCm38)	R2362S	probably damaging	Het
Chd6	C	T	2: 160,957,079 (GRCm38)	R2362K	probably damaging	Het
Cmc1	T	C	9: 118,115,375 (GRCm38)	E25G	probably benign	Het
Cntnap5b	T	C	1: 100,446,894 (GRCm38)	S1123P	probably damaging	Het
Col4a3	T	A	1: 82,716,057 (GRCm38)	L66*	probably null	Het
Crmp1	A	G	5: 37,282,868 (GRCm38)	T329A	probably benign	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Cyp3a16	A	G	5: 145,442,033 (GRCm38)	S393P	possibly damaging	Het
Cyp4f18	T	A	8: 71,996,131 (GRCm38)	I225F	probably damaging	Het
Ddhd2	A	G	8: 25,741,699 (GRCm38)	V432A	probably benign	Het
Ecpas	T	C	4: 58,853,131 (GRCm38)	I401M	probably damaging	Het
Foxq1	G	A	13: 31,559,331 (GRCm38)	A139T	probably damaging	Het
Gm10428	G	T	11: 62,753,343 (GRCm38)		probably benign	Het
Gpr89	A	G	3: 96,892,880 (GRCm38)	L134P	probably damaging	Het
Hjv	T	C	3: 96,528,622 (GRCm38)	S399P	probably benign	Het
Hrc	A	T	7: 45,336,601 (GRCm38)		probably null	Het
Igf1r	T	A	7: 68,207,253 (GRCm38)	Y988N	probably damaging	Het
Igf2r	A	C	17: 12,698,352 (GRCm38)		probably null	Het
Itga2b	A	G	11: 102,466,274 (GRCm38)	F260S	probably benign	Het
Kif2a	T	A	13: 106,962,164 (GRCm38)	N698I	probably benign	Het
Lap3	A	C	5: 45,504,805 (GRCm38)	I316L	probably benign	Het
Map2k6	T	G	11: 110,399,371 (GRCm38)		probably benign	Het
Mtrex	T	A	13: 112,917,662 (GRCm38)	I146F	probably damaging	Het
Myh1	A	G	11: 67,219,252 (GRCm38)	E1422G	probably damaging	Het
Ncoa6	A	G	2: 155,408,141 (GRCm38)	V1081A	probably benign	Het
Nom1	A	G	5: 29,437,641 (GRCm38)	E380G	probably damaging	Het
Nwd2	A	T	5: 63,725,230 (GRCm38)	Y75F	probably damaging	Het
Or3a1b	T	A	11: 74,121,509 (GRCm38)	D73E	probably damaging	Het
Or51a24	G	A	7: 104,084,169 (GRCm38)	R304W	probably benign	Het
Pkd1l1	A	G	11: 8,916,301 (GRCm38)	V518A	probably damaging	Het
Ptgs2	A	G	1: 150,105,528 (GRCm38)	M521V	probably benign	Het
Qsox1	T	A	1: 155,779,528 (GRCm38)	M630L	probably benign	Het
Spty2d1	A	G	7: 46,998,284 (GRCm38)	L299P	probably damaging	Het
Sult2a6	T	C	7: 14,250,358 (GRCm38)	Y149C	probably damaging	Het
Tlr3	G	A	8: 45,402,771 (GRCm38)	T124M	probably benign	Het
Tmem171	A	G	13: 98,692,511 (GRCm38)	Y44H	probably damaging	Het
Usp35	C	T	7: 97,312,351 (GRCm38)	V623I	probably benign	Het
Vangl2	T	A	1: 172,006,127 (GRCm38)	H463L	probably damaging	Het
Vmn1r175	A	C	7: 23,808,480 (GRCm38)	L241V	probably benign	Het
Vmn1r19	A	T	6: 57,405,353 (GRCm38)	K297I	unknown	Het
Vmn2r23	C	A	6: 123,712,759 (GRCm38)	T198K	probably benign	Het
Vmn2r-ps69	T	A	7: 85,304,015 (GRCm38)		noncoding transcript	Het
Xirp2	A	G	2: 67,510,967 (GRCm38)	Y1184C	probably benign	Het
Ythdc1	A	G	5: 86,835,951 (GRCm38)		probably benign	Het
Zbtb39	C	T	10: 127,742,646 (GRCm38)	A363V	probably damaging	Het
Zmiz1	T	A	14: 25,651,304 (GRCm38)	I527K	possibly damaging	Het
Zmiz1	C	A	14: 25,651,306 (GRCm38)	P534T	probably damaging	Het

Other mutations in St6gal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:St6gal1	APN	16	23,356,392 (GRCm38)	splice site	probably benign
IGL01667:St6gal1	APN	16	23,321,424 (GRCm38)	missense	probably benign	0.00
IGL01783:St6gal1	APN	16	23,321,555 (GRCm38)	missense	probably benign	0.29
IGL02996:St6gal1	APN	16	23,321,154 (GRCm38)	missense	probably damaging	0.98
R0049:St6gal1	UTSW	16	23,321,141 (GRCm38)	missense	probably damaging	1.00
R0049:St6gal1	UTSW	16	23,321,141 (GRCm38)	missense	probably damaging	1.00
R0295:St6gal1	UTSW	16	23,356,203 (GRCm38)	splice site	probably benign
R1290:St6gal1	UTSW	16	23,321,661 (GRCm38)	missense	probably benign	0.03
R1352:St6gal1	UTSW	16	23,321,651 (GRCm38)	missense	probably damaging	1.00
R1817:St6gal1	UTSW	16	23,321,333 (GRCm38)	nonsense	probably null
R1911:St6gal1	UTSW	16	23,321,633 (GRCm38)	missense	probably damaging	0.99
R2113:St6gal1	UTSW	16	23,328,417 (GRCm38)	missense	probably damaging	0.98
R4591:St6gal1	UTSW	16	23,321,294 (GRCm38)	missense	probably benign	0.00
R6554:St6gal1	UTSW	16	23,321,655 (GRCm38)	missense	probably benign	0.00
R6925:St6gal1	UTSW	16	23,356,213 (GRCm38)	missense	probably damaging	1.00
R7658:St6gal1	UTSW	16	23,356,228 (GRCm38)	missense	probably damaging	1.00
R7740:St6gal1	UTSW	16	23,321,035 (GRCm38)	splice site	probably benign
R7967:St6gal1	UTSW	16	23,357,835 (GRCm38)	missense	probably benign	0.01
R7970:St6gal1	UTSW	16	23,357,835 (GRCm38)	missense	probably benign	0.01
R7973:St6gal1	UTSW	16	23,357,835 (GRCm38)	missense	probably benign	0.01
R8017:St6gal1	UTSW	16	23,357,835 (GRCm38)	missense	probably benign	0.01
R8017:St6gal1	UTSW	16	23,357,835 (GRCm38)	missense	probably benign	0.01
R8018:St6gal1	UTSW	16	23,357,835 (GRCm38)	missense	probably benign	0.01
R8019:St6gal1	UTSW	16	23,357,835 (GRCm38)	missense	probably benign	0.01
R8044:St6gal1	UTSW	16	23,357,835 (GRCm38)	missense	probably benign	0.01
R8122:St6gal1	UTSW	16	23,354,894 (GRCm38)	missense	probably benign	0.00
R8123:St6gal1	UTSW	16	23,357,835 (GRCm38)	missense	probably benign	0.01
R8124:St6gal1	UTSW	16	23,357,835 (GRCm38)	missense	probably benign	0.01
R9265:St6gal1	UTSW	16	23,321,418 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGGCTGCAGAGTTGGTTC -3'
(R):5'- CTGTTTGAGAACACAGCCTGGG -3'

Sequencing Primer
(F):5'- CAGAGTTGGTTCGAGGCAGC -3'
(R):5'- ACGGCCACTTTCTCCTGG -3'

Posted On

2016-11-21