Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4520001:St6galnac1'

555191

Institutional Source

Beutler Lab

Gene Symbol

St6galnac1

Ensembl Gene

ENSMUSG00000009588

Gene Name

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1

Synonyms

Siat7a, ST6GalNAc I

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

PIT4520001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116655851-116666333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116660175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 46 (N46S)

Ref Sequence

ENSEMBL: ENSMUSP00000009732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009732]

AlphaFold

Q9QZ39

Predicted Effect

probably benign
Transcript: ENSMUST00000009732
AA Change: N46S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: N46S

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
Pfam:Glyco_transf_29	230	518	2.9e-72	PFAM

Coding Region Coverage

1x: 93.5%
3x: 91.1%
10x: 86.1%
20x: 75.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,117,133 (GRCm39)	N1000S	probably damaging	Het
Adgrb1	A	G	15: 74,413,508 (GRCm39)	D564G	probably damaging	Het
Ankmy2	A	G	12: 36,207,390 (GRCm39)	E12G	probably benign	Het
Arid1a	C	T	4: 133,409,227 (GRCm39)	S1375N	unknown	Het
Atp1a2	G	A	1: 172,106,941 (GRCm39)	A793V	probably benign	Het
Atp8b1	T	C	18: 64,701,251 (GRCm39)	Y369C	probably benign	Het
Catsperg2	A	G	7: 29,409,586 (GRCm39)	Y536H	possibly damaging	Het
Ccdc178	A	G	18: 22,200,470 (GRCm39)	Y445H	probably damaging	Het
Cep170	G	T	1: 176,607,765 (GRCm39)	N230K	unknown	Het
Cftr	A	G	6: 18,277,842 (GRCm39)	I977V	probably benign	Het
Chek2	A	G	5: 111,011,195 (GRCm39)	Y331C	probably damaging	Het
Chst13	A	T	6: 90,286,167 (GRCm39)	I265K	probably benign	Het
Coil	T	C	11: 88,872,437 (GRCm39)	M266T	probably benign	Het
Col16a1	T	A	4: 129,945,456 (GRCm39)	C28S	unknown	Het
Col3a1	T	C	1: 45,374,943 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,956,023 (GRCm39)	V3395M	probably benign	Het
Cyp51	A	G	5: 4,151,200 (GRCm39)	V143A	probably damaging	Het
Eif2ak1	C	T	5: 143,836,027 (GRCm39)	Q573*	probably null	Het
Eif2ak4	T	A	2: 118,292,808 (GRCm39)	I1344N	probably damaging	Het
Fhip1a	G	A	3: 85,579,779 (GRCm39)	Q809*	probably null	Het
Gen1	A	G	12: 11,291,509 (GRCm39)	V825A	probably benign	Het
Gm28042	A	T	2: 119,870,148 (GRCm39)	K696*	probably null	Het
Gm4952	A	G	19: 12,602,048 (GRCm39)	Y152C	probably benign	Het
Hdac3	G	A	18: 38,074,817 (GRCm39)	T308I	probably damaging	Het
Hpx	T	C	7: 105,241,341 (GRCm39)	T357A	probably benign	Het
Hscb	A	T	5: 110,983,851 (GRCm39)	Y139N	probably damaging	Het
Kcnk9	T	A	15: 72,384,332 (GRCm39)	H282L	probably benign	Het
Kdm2b	G	A	5: 123,079,110 (GRCm39)	T287M	probably damaging	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Kmt2c	A	C	5: 25,520,664 (GRCm39)	N1815K	probably benign	Het
Ktn1	C	T	14: 47,923,774 (GRCm39)	T511M	probably damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Lrrc43	T	C	5: 123,630,530 (GRCm39)	V131A	possibly damaging	Het
Man1b1	T	A	2: 25,233,282 (GRCm39)	H218Q	probably damaging	Het
Mapk8ip2	T	A	15: 89,344,900 (GRCm39)	C766S	probably damaging	Het
Mfn1	A	G	3: 32,615,695 (GRCm39)	N353D	probably benign	Het
Mtcl1	A	T	17: 66,692,907 (GRCm39)	L474Q	possibly damaging	Het
Mtr	T	A	13: 12,212,871 (GRCm39)	R915*	probably null	Het
Myh6	C	A	14: 55,187,581 (GRCm39)	V1263L	probably benign	Het
Nt5m	C	A	11: 59,765,415 (GRCm39)	L148M	probably benign	Het
Or4a67	A	G	2: 88,597,921 (GRCm39)	V246A	possibly damaging	Het
Or51t4	A	T	7: 102,597,921 (GRCm39)	D83V	probably damaging	Het
Or8k21	T	C	2: 86,145,142 (GRCm39)	I163V	possibly damaging	Het
Pbrm1	T	A	14: 30,789,818 (GRCm39)	F811I	probably damaging	Het
Pcnt	A	G	10: 76,256,069 (GRCm39)	S724P	probably damaging	Het
Pfdn5	C	A	15: 102,237,158 (GRCm39)	D98E	probably benign	Het
Ptprs	G	A	17: 56,721,980 (GRCm39)	P1715S	probably damaging	Het
Rtkn2	T	A	10: 67,823,291 (GRCm39)	L65Q	probably damaging	Het
Scn2a	G	A	2: 65,518,763 (GRCm39)	R379H	probably damaging	Het
Scn5a	G	T	9: 119,363,636 (GRCm39)	D501E	possibly damaging	Het
Spn	C	A	7: 126,735,611 (GRCm39)	G299W	probably damaging	Het
Stx19	A	G	16: 62,642,871 (GRCm39)	D229G	probably benign	Het
Tmc6	A	T	11: 117,663,556 (GRCm39)	M552K	possibly damaging	Het
Tnpo3	G	C	6: 29,555,221 (GRCm39)	D787E	possibly damaging	Het
Tyw5	T	C	1: 57,427,674 (GRCm39)	Y310C	probably damaging	Het
Vmn2r15	A	G	5: 109,434,871 (GRCm39)	F611S	probably damaging	Het
Vmn2r49	C	T	7: 9,722,988 (GRCm39)	M95I	probably benign	Het
Wfdc8	A	G	2: 164,445,223 (GRCm39)	S131P	probably benign	Het
Zfp407	A	T	18: 84,450,545 (GRCm39)	M1597K	probably damaging	Het

Other mutations in St6galnac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:St6galnac1	APN	11	116,658,532 (GRCm39)	missense	probably damaging	1.00
IGL01451:St6galnac1	APN	11	116,660,165 (GRCm39)	missense	probably benign	0.00
IGL01873:St6galnac1	APN	11	116,657,437 (GRCm39)	missense	probably damaging	0.98
IGL02569:St6galnac1	APN	11	116,658,528 (GRCm39)	missense	probably damaging	1.00
IGL02799:St6galnac1	APN	11	116,657,473 (GRCm39)	splice site	probably benign
IGL02935:St6galnac1	APN	11	116,660,171 (GRCm39)	missense	probably benign
IGL03124:St6galnac1	APN	11	116,666,125 (GRCm39)	missense	probably benign	0.00
R0126:St6galnac1	UTSW	11	116,657,410 (GRCm39)	missense	probably benign	0.00
R0363:St6galnac1	UTSW	11	116,659,756 (GRCm39)	missense	probably benign	0.36
R0394:St6galnac1	UTSW	11	116,657,466 (GRCm39)	missense	probably damaging	0.99
R0828:St6galnac1	UTSW	11	116,659,823 (GRCm39)	missense	probably benign	0.05
R1569:St6galnac1	UTSW	11	116,660,097 (GRCm39)	missense	possibly damaging	0.46
R1570:St6galnac1	UTSW	11	116,657,474 (GRCm39)	splice site	probably benign
R1591:St6galnac1	UTSW	11	116,656,689 (GRCm39)	missense	probably damaging	1.00
R1602:St6galnac1	UTSW	11	116,660,113 (GRCm39)	missense	probably benign	0.00
R2088:St6galnac1	UTSW	11	116,659,933 (GRCm39)	missense	probably benign	0.00
R2212:St6galnac1	UTSW	11	116,656,682 (GRCm39)	missense	probably damaging	1.00
R2266:St6galnac1	UTSW	11	116,658,673 (GRCm39)	nonsense	probably null
R3413:St6galnac1	UTSW	11	116,656,682 (GRCm39)	missense	probably damaging	1.00
R3835:St6galnac1	UTSW	11	116,657,109 (GRCm39)	missense	probably damaging	1.00
R5016:St6galnac1	UTSW	11	116,656,706 (GRCm39)	missense	probably damaging	1.00
R5446:St6galnac1	UTSW	11	116,657,095 (GRCm39)	missense	probably benign	0.37
R6625:St6galnac1	UTSW	11	116,656,717 (GRCm39)	missense	probably damaging	1.00
R6805:St6galnac1	UTSW	11	116,659,770 (GRCm39)	missense	probably damaging	1.00
R7007:St6galnac1	UTSW	11	116,657,833 (GRCm39)	nonsense	probably null
R7133:St6galnac1	UTSW	11	116,657,899 (GRCm39)	missense	possibly damaging	0.89
R7491:St6galnac1	UTSW	11	116,660,010 (GRCm39)	missense	probably benign	0.14
R7724:St6galnac1	UTSW	11	116,656,898 (GRCm39)	critical splice donor site	probably null
R7812:St6galnac1	UTSW	11	116,659,927 (GRCm39)	missense	probably benign	0.16
R8160:St6galnac1	UTSW	11	116,666,316 (GRCm39)	start gained	probably benign
R8341:St6galnac1	UTSW	11	116,659,714 (GRCm39)	missense	probably benign	0.00
R8373:St6galnac1	UTSW	11	116,660,059 (GRCm39)	missense	possibly damaging	0.62
R8379:St6galnac1	UTSW	11	116,666,325 (GRCm39)	start gained	probably benign
R8524:St6galnac1	UTSW	11	116,658,547 (GRCm39)	missense	possibly damaging	0.69
Z1177:St6galnac1	UTSW	11	116,666,254 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGCCTTATGGTCTCCAAC -3'
(R):5'- TGGGCTTGCAGATACTTGCC -3'

Sequencing Primer
(F):5'- GGCCTTATGGTCTCCAACTTCCTC -3'
(R):5'- GCAGATACTTGCCTGGCTG -3'

Posted On

2019-06-07