Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:St6gal1'

37711

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

038512-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23224740-23360350 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 23356203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136206 (fasta)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000144919

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: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,282,594	I173N	probably damaging	Het
2610028H24Rik	G	A	10: 76,454,808	S127N	probably damaging	Het
Abcc8	T	C	7: 46,118,054	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,548,005		probably null	Het
Adh4	A	G	3: 138,429,076	D337G	probably damaging	Het
Apob	T	A	12: 8,002,181	Y1207*	probably null	Het
Birc6	T	C	17: 74,613,362		probably benign	Het
Bms1	A	G	6: 118,389,337	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,356,211	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,356,870	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,173,789	K586N	probably damaging	Het
Cep290	A	C	10: 100,537,821	E1321A	probably damaging	Het
Ctc1	A	G	11: 69,030,588	K682E	possibly damaging	Het
Cux1	A	C	5: 136,313,212	V442G	probably benign	Het
Dph2	A	T	4: 117,890,930	V150E	possibly damaging	Het
Etv6	A	G	6: 134,266,275	D331G	probably benign	Het
Fbxo42	A	G	4: 141,200,497	D696G	probably damaging	Het
Fbxo8	G	A	8: 56,590,074	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840	T73A	possibly damaging	Het
H2afj	C	G	6: 136,808,604	R89G	probably damaging	Het
Ifng	G	T	10: 118,441,249	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,709,477		probably null	Het
Knl1	A	C	2: 119,088,839	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,701,108	Y108*	probably null	Het
Lcp1	A	G	14: 75,199,420	I69V	probably null	Het
Lrp6	A	T	6: 134,457,693	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,565,849	E1009D	probably benign	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Med14	G	C	X: 12,685,748	R1223G	probably damaging	Het
Mesd	C	T	7: 83,897,865	Q179*	probably null	Het
Myh7	A	G	14: 54,984,821		probably benign	Het
Myo6	T	C	9: 80,283,579	I804T	probably damaging	Het
Neb	T	C	2: 52,284,285	I1521V	possibly damaging	Het
Nosip	T	A	7: 45,076,916	I249N	probably damaging	Het
Nostrin	A	C	2: 69,179,416	E296A	probably benign	Het
Olfr1280	T	A	2: 111,316,154	V225D	probably damaging	Het
Olfr136	A	T	17: 38,335,291	I45F	probably damaging	Het
Olfr491	T	G	7: 108,317,685	S264A	probably benign	Het
Olfr624	T	C	7: 103,670,311	H240R	probably damaging	Het
Oprk1	T	C	1: 5,598,850	L173S	possibly damaging	Het
Pdzd7	A	G	19: 45,037,072	V328A	probably benign	Het
Podxl2	A	T	6: 88,849,678	S215R	probably benign	Het
Prss36	T	G	7: 127,935,855	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,823,985		probably benign	Het
Rasa2	T	C	9: 96,545,810		probably null	Het
Rgs1	A	T	1: 144,245,486	I149N	probably damaging	Het
Rgs16	A	G	1: 153,743,737	E163G	probably damaging	Het
Rnf121	A	G	7: 102,035,346	F120S	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slfn8	A	T	11: 83,003,343	Y823*	probably null	Het
Spdl1	A	T	11: 34,813,343	N554K	possibly damaging	Het
Tet3	G	A	6: 83,369,139	P1304S	probably benign	Het
Timm29	T	C	9: 21,593,076		probably null	Het
Tpcn1	T	A	5: 120,539,060	I687F	probably damaging	Het
Trim46	A	G	3: 89,245,113		probably benign	Het
Ttc23	T	A	7: 67,669,852		probably benign	Het
Ttll6	G	T	11: 96,154,714	V586L	probably benign	Het
Ttn	A	T	2: 76,758,611		probably benign	Het
Uba3	A	T	6: 97,191,583	H160Q	possibly damaging	Het
Usp32	A	G	11: 85,053,692	S316P	probably damaging	Het
Vcan	T	C	13: 89,712,191	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,817,472	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,307,616	S138P	probably damaging	Het

Other mutations in St6gal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:St6gal1	APN	16	23356392	splice site	probably benign
IGL01667:St6gal1	APN	16	23321424	missense	probably benign	0.00
IGL01783:St6gal1	APN	16	23321555	missense	probably benign	0.29
IGL02996:St6gal1	APN	16	23321154	missense	probably damaging	0.98
R0049:St6gal1	UTSW	16	23321141	missense	probably damaging	1.00
R0049:St6gal1	UTSW	16	23321141	missense	probably damaging	1.00
R1290:St6gal1	UTSW	16	23321661	missense	probably benign	0.03
R1352:St6gal1	UTSW	16	23321651	missense	probably damaging	1.00
R1817:St6gal1	UTSW	16	23321333	nonsense	probably null
R1911:St6gal1	UTSW	16	23321633	missense	probably damaging	0.99
R2113:St6gal1	UTSW	16	23328417	missense	probably damaging	0.98
R4591:St6gal1	UTSW	16	23321294	missense	probably benign	0.00
R5761:St6gal1	UTSW	16	23321055	utr 5 prime	probably benign
R6554:St6gal1	UTSW	16	23321655	missense	probably benign	0.00
R6925:St6gal1	UTSW	16	23356213	missense	probably damaging	1.00
R7658:St6gal1	UTSW	16	23356228	missense	probably damaging	1.00
R7740:St6gal1	UTSW	16	23321035	splice site	probably benign
R7967:St6gal1	UTSW	16	23357835	missense	probably benign	0.01
R7970:St6gal1	UTSW	16	23357835	missense	probably benign	0.01
R7973:St6gal1	UTSW	16	23357835	missense	probably benign	0.01
R8017:St6gal1	UTSW	16	23357835	missense	probably benign	0.01
R8017:St6gal1	UTSW	16	23357835	missense	probably benign	0.01
R8018:St6gal1	UTSW	16	23357835	missense	probably benign	0.01
R8019:St6gal1	UTSW	16	23357835	missense	probably benign	0.01
R8044:St6gal1	UTSW	16	23357835	missense	probably benign	0.01
R8122:St6gal1	UTSW	16	23354894	missense	probably benign	0.00
R8123:St6gal1	UTSW	16	23357835	missense	probably benign	0.01
R8124:St6gal1	UTSW	16	23357835	missense	probably benign	0.01
R9265:St6gal1	UTSW	16	23321418	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCAGAGACTTTGTTCCAGGCCC -3'
(R):5'- TGACTAAGTTCCCTCAGCAGACCTC -3'

Sequencing Primer
(F):5'- CCGACTGGAGCACCCAC -3'
(R):5'- TTCTGGTGCATGAACGAGACC -3'

Posted On

2013-05-23