Mutagenetix > Incidental Mutation

Incidental Mutation 'R1547:St6galnac6'

172236

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

039586-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1547 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

32489721-32510818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32504977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 141 (V141A)

Ref Sequence

ENSEMBL: ENSMUSP00000115430 (fasta)

Gene Model

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

AlphaFold

Q9JM95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072111
AA Change: V161A

PolyPhen 2 Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071983
Gene: ENSMUSG00000026811
AA Change: V161A

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

possibly damaging
Transcript: ENSMUST00000081879
AA Change: V163A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080555
Gene: ENSMUSG00000026811
AA Change: V163A

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

possibly damaging
Transcript: ENSMUST00000095044
AA Change: V161A

PolyPhen 2 Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092654
Gene: ENSMUSG00000026811
AA Change: V161A

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

possibly damaging
Transcript: ENSMUST00000095045
AA Change: V127A

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092655
Gene: ENSMUSG00000026811
AA Change: V127A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113290
AA Change: V127A

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108915
Gene: ENSMUSG00000026811
AA Change: V127A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126636
AA Change: V27A

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000128811

SMART Domains

Protein: ENSMUSP00000118893
Gene: ENSMUSG00000026811

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131229
AA Change: V141A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811
AA Change: V141A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140983
AA Change: V127A

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811
AA Change: V127A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183538
AA Change: V161A

PolyPhen 2 Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138916
Gene: ENSMUSG00000026811
AA Change: V161A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149220

Predicted Effect

probably benign
Transcript: ENSMUST00000129165

Predicted Effect

probably benign
Transcript: ENSMUST00000143625

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	C	12: 21,403,958 (GRCm39)	V96G	probably damaging	Het
Adam5	G	T	8: 25,300,729 (GRCm39)	Q267K	probably benign	Het
Adamts6	A	G	13: 104,581,383 (GRCm39)	T833A	probably benign	Het
Ago4	C	T	4: 126,405,206 (GRCm39)	E456K	probably benign	Het
Anapc1	T	C	2: 128,459,476 (GRCm39)	Q1861R	probably benign	Het
Apob	A	T	12: 8,053,368 (GRCm39)	D1270V	probably benign	Het
Arb2a	T	C	13: 77,973,509 (GRCm39)		probably null	Het
Arhgef11	T	A	3: 87,602,709 (GRCm39)	I196N	possibly damaging	Het
Armh4	A	T	14: 50,010,953 (GRCm39)	D251E	probably benign	Het
Capzb	G	A	4: 138,989,409 (GRCm39)		probably null	Het
Ccdc183	T	A	2: 25,499,362 (GRCm39)	T466S	probably benign	Het
Cd101	T	C	3: 100,926,267 (GRCm39)	T151A	possibly damaging	Het
Cdc42bpa	A	T	1: 179,902,209 (GRCm39)	I489F	probably damaging	Het
Cetn4	T	C	3: 37,363,600 (GRCm39)	K52R	possibly damaging	Het
Dock6	C	T	9: 21,725,884 (GRCm39)	E1440K	probably damaging	Het
Edem2	A	G	2: 155,564,436 (GRCm39)	F94L	probably damaging	Het
Elp1	C	A	4: 56,792,090 (GRCm39)	R226L	probably damaging	Het
Elp1	C	T	4: 56,798,810 (GRCm39)	V51M	probably damaging	Het
Entrep1	T	C	19: 23,957,065 (GRCm39)	D315G	probably damaging	Het
Etl4	T	C	2: 20,790,039 (GRCm39)	S881P	probably damaging	Het
Fat2	G	A	11: 55,143,081 (GRCm39)	P4256L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Kif19a	A	G	11: 114,677,398 (GRCm39)	E594G	probably benign	Het
Kifap3	A	G	1: 163,621,655 (GRCm39)	D101G	probably benign	Het
Klhl6	T	C	16: 19,784,832 (GRCm39)	D102G	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lamb2	A	G	9: 108,359,824 (GRCm39)	H388R	probably benign	Het
Lmna	T	C	3: 88,389,658 (GRCm39)	S656G	probably benign	Het
Map3k12	T	A	15: 102,412,287 (GRCm39)	I285F	probably damaging	Het
Map3k7	A	G	4: 31,991,796 (GRCm39)	I345V	probably benign	Het
Mcph1	A	G	8: 18,672,702 (GRCm39)	R111G	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,434 (GRCm39)	V95D	probably damaging	Het
Mogs	T	A	6: 83,093,006 (GRCm39)	M118K	possibly damaging	Het
Npy5r	T	C	8: 67,133,686 (GRCm39)	E369G	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,889 (GRCm39)	F52L	probably damaging	Het
Or10j3	T	A	1: 173,031,239 (GRCm39)	Y105*	probably null	Het
Or2t49	A	G	11: 58,392,651 (GRCm39)	S244P	probably damaging	Het
Or8b12b	A	C	9: 37,683,960 (GRCm39)	T2P	probably benign	Het
Pde7b	C	A	10: 20,310,340 (GRCm39)	L207F	probably damaging	Het
Pigo	A	G	4: 43,020,689 (GRCm39)	V751A	probably benign	Het
Polr2a	T	C	11: 69,625,381 (GRCm39)	Y1923C	probably benign	Het
Prokr2	T	C	2: 132,215,522 (GRCm39)	Y152C	probably damaging	Het
Rab40c	A	G	17: 26,102,724 (GRCm39)	S223P	probably damaging	Het
Recql4	A	C	15: 76,590,511 (GRCm39)	C658G	probably damaging	Het
Sgca	T	C	11: 94,860,259 (GRCm39)	T46A	probably damaging	Het
Slc39a4	G	T	15: 76,498,347 (GRCm39)	C363*	probably null	Het
Snap25	A	T	2: 136,619,389 (GRCm39)	I181F	possibly damaging	Het
Snx32	T	A	19: 5,547,339 (GRCm39)	Q256L	possibly damaging	Het
Soat1	A	G	1: 156,267,331 (GRCm39)	V284A	probably damaging	Het
Sox6	G	A	7: 115,300,957 (GRCm39)	T170M	possibly damaging	Het
Spag16	G	T	1: 69,912,402 (GRCm39)	V246F	possibly damaging	Het
Sult2a7	T	A	7: 14,211,047 (GRCm39)		probably null	Het
Syngr3	A	T	17: 24,906,698 (GRCm39)	V39E	probably damaging	Het
Tango6	A	G	8: 107,508,418 (GRCm39)	T917A	probably damaging	Het
Tas1r1	A	G	4: 152,112,876 (GRCm39)	S726P	probably damaging	Het
Zeb1	C	T	18: 5,767,450 (GRCm39)	R654C	possibly damaging	Het

Other mutations in St6galnac6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02736:St6galnac6	APN	2	32,504,983 (GRCm39)	missense	probably benign	0.04
R0097:St6galnac6	UTSW	2	32,489,814 (GRCm39)	missense	probably damaging	0.99
R1654:St6galnac6	UTSW	2	32,509,521 (GRCm39)	missense	probably damaging	1.00
R4385:St6galnac6	UTSW	2	32,505,036 (GRCm39)	missense	possibly damaging	0.84
R4744:St6galnac6	UTSW	2	32,508,555 (GRCm39)	missense	probably damaging	1.00
R4968:St6galnac6	UTSW	2	32,498,098 (GRCm39)	missense	probably benign	0.00
R5169:St6galnac6	UTSW	2	32,504,857 (GRCm39)	missense	possibly damaging	0.91
R6037:St6galnac6	UTSW	2	32,502,240 (GRCm39)	missense	probably damaging	1.00
R6037:St6galnac6	UTSW	2	32,502,240 (GRCm39)	missense	probably damaging	1.00
R7883:St6galnac6	UTSW	2	32,504,941 (GRCm39)	missense	probably benign	0.02
R8445:St6galnac6	UTSW	2	32,498,532 (GRCm39)	intron	probably benign
R8542:St6galnac6	UTSW	2	32,509,513 (GRCm39)	missense	probably damaging	1.00
R9141:St6galnac6	UTSW	2	32,505,094 (GRCm39)	missense	probably damaging	0.99
R9299:St6galnac6	UTSW	2	32,502,345 (GRCm39)	missense	probably benign	0.00
R9426:St6galnac6	UTSW	2	32,505,094 (GRCm39)	missense	probably damaging	0.99
R9753:St6galnac6	UTSW	2	32,502,261 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCCTGCATAGAGCATCCCTGATAG -3'
(R):5'- GGCAAGAAGTGACTAGAGCCTCAAC -3'

Sequencing Primer
(F):5'- ATAGAGCATCCCTGATAGTGTCC -3'
(R):5'- AGAGGTCGTCAAACTGCTGC -3'

Posted On

2014-04-13