Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:St6galnac6'

486612

Institutional Source

Beutler Lab

Gene Symbol

St6galnac6

Ensembl Gene

ENSMUSG00000026811

Gene Name

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

Synonyms

ST6GalNAcVI, Siat7f

MMRRC Submission

043258-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32599709-32620806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32612228 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 7 (Q7R)

Ref Sequence

ENSEMBL: ENSMUSP00000118893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072111] [ENSMUST00000081879] [ENSMUST00000095044] [ENSMUST00000095045] [ENSMUST00000113290] [ENSMUST00000126636] [ENSMUST00000128811] [ENSMUST00000129165] [ENSMUST00000131229] [ENSMUST00000140983] [ENSMUST00000143625] [ENSMUST00000183538]

Predicted Effect

probably benign
Transcript: ENSMUST00000072111
AA Change: Q41R

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071983
Gene: ENSMUSG00000026811
AA Change: Q41R

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:Glyco_transf_29	55	328	2.5e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081879
AA Change: Q43R

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080555
Gene: ENSMUSG00000026811
AA Change: Q43R

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
Pfam:Glyco_transf_29	62	329	2.1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095044
AA Change: Q41R

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092654
Gene: ENSMUSG00000026811
AA Change: Q41R

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:Glyco_transf_29	55	328	2.5e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095045
AA Change: Q7R

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092655
Gene: ENSMUSG00000026811
AA Change: Q7R

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_29	41	307	1.8e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113290
AA Change: Q7R

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108915
Gene: ENSMUSG00000026811
AA Change: Q7R

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_29	21	294	1.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126636

Predicted Effect

probably damaging
Transcript: ENSMUST00000128811
AA Change: Q7R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118893
Gene: ENSMUSG00000026811
AA Change: Q7R

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_29	20	108	7e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129165
AA Change: Q7R

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000131229
AA Change: Q21R

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811
AA Change: Q21R

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_29	35	176	3.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140983
AA Change: Q7R

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811
AA Change: Q7R

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_29	21	229	7.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149220

Predicted Effect

probably benign
Transcript: ENSMUST00000183538
AA Change: Q41R

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138916
Gene: ENSMUSG00000026811
AA Change: Q41R

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:Glyco_transf_29	55	232	4.8e-24	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abi2	C	A	1: 60,464,579	P212T	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Cfap52	C	T	11: 67,946,300	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Ece2	A	G	16: 20,630,362	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Nomo1	T	A	7: 46,062,999	I656N	possibly damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Olr1	A	G	6: 129,493,541	L221P	probably damaging	Het
Pih1d1	C	T	7: 45,156,314	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zeb2	G	T	2: 44,988,640	S1170*	probably null	Het
Zfp947	A	G	17: 22,147,434	Y38H	probably damaging	Het

Other mutations in St6galnac6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02736:St6galnac6	APN	2	32614971	missense	probably benign	0.04
R0097:St6galnac6	UTSW	2	32599802	missense	probably damaging	0.99
R1547:St6galnac6	UTSW	2	32614965	missense	possibly damaging	0.75
R1654:St6galnac6	UTSW	2	32619509	missense	probably damaging	1.00
R4385:St6galnac6	UTSW	2	32615024	missense	possibly damaging	0.84
R4744:St6galnac6	UTSW	2	32618543	missense	probably damaging	1.00
R4968:St6galnac6	UTSW	2	32608086	missense	probably benign	0.00
R5169:St6galnac6	UTSW	2	32614845	missense	possibly damaging	0.91
R6037:St6galnac6	UTSW	2	32612228	missense	probably damaging	1.00
R7883:St6galnac6	UTSW	2	32614929	missense	probably benign	0.02
R8445:St6galnac6	UTSW	2	32608520	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCAACATGACTGGACTGG -3'
(R):5'- TACCTTGTTGCCGAGGATAGGG -3'

Sequencing Primer
(F):5'- CTGGACTGGAAAGATAGTTAATTGG -3'
(R):5'- CTTGTTGCCGAGGATAGGGAAGTAG -3'

Posted On

2017-08-16