Mutagenetix > Incidental Mutation

Incidental Mutation 'R9753:St6galnac6'

732614

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R9753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32489721-32510818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32502261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 50 (I50T)

Ref Sequence

ENSEMBL: ENSMUSP00000080555 (fasta)

Gene Model

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

AlphaFold

Q9JM95

Predicted Effect

probably benign
Transcript: ENSMUST00000072111
AA Change: I48T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000071983
Gene: ENSMUSG00000026811
AA Change: I48T

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: I50T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000080555
Gene: ENSMUSG00000026811
AA Change: I50T

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: I48T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000092654
Gene: ENSMUSG00000026811
AA Change: I48T

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: I14T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000092655
Gene: ENSMUSG00000026811
AA Change: I14T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113290
AA Change: I14T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108915
Gene: ENSMUSG00000026811
AA Change: I14T

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 benign
Transcript: ENSMUST00000128811
AA Change: I14T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000118893
Gene: ENSMUSG00000026811
AA Change: I14T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129165
AA Change: I14T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000131229
AA Change: I28T

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811
AA Change: I28T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140983
AA Change: I14T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811
AA Change: I14T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143625

Predicted Effect

probably benign
Transcript: ENSMUST00000183538
AA Change: I48T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138916
Gene: ENSMUSG00000026811
AA Change: I48T

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	G	A	10: 41,259,496 (GRCm39)	V843I		Het
Bbs12	T	C	3: 37,373,680 (GRCm39)	C43R	possibly damaging	Het
Brwd1	T	C	16: 95,825,028 (GRCm39)	E1145G	probably damaging	Het
C2cd4c	A	C	10: 79,448,067 (GRCm39)	I360S	probably damaging	Het
Carmil2	A	G	8: 106,417,539 (GRCm39)	N599S	probably damaging	Het
Cd79b	A	G	11: 106,203,457 (GRCm39)		probably null	Het
Ces2c	A	G	8: 105,580,249 (GRCm39)	M489V	probably benign	Het
Clip4	A	G	17: 72,106,068 (GRCm39)	N84D	probably benign	Het
Cramp1	T	C	17: 25,191,320 (GRCm39)	D1047G	possibly damaging	Het
Cyp2c69	C	T	19: 39,865,991 (GRCm39)	V201M	probably benign	Het
Dock2	A	G	11: 34,223,673 (GRCm39)	S1154P	possibly damaging	Het
Elk4	T	G	1: 131,945,881 (GRCm39)	V253G	probably benign	Het
Erbb4	T	A	1: 68,238,062 (GRCm39)	H809L	probably benign	Het
Ext1	A	T	15: 53,208,067 (GRCm39)	D231E	probably damaging	Het
Fam221b	T	C	4: 43,665,574 (GRCm39)	K295E	probably benign	Het
Fbrsl1	A	G	5: 110,526,835 (GRCm39)	F2L	unknown	Het
Fnip2	C	T	3: 79,415,411 (GRCm39)	R209H	probably benign	Het
Gart	C	T	16: 91,430,949 (GRCm39)	G371D	probably damaging	Het
Gata6	T	A	18: 11,064,706 (GRCm39)	V506D	possibly damaging	Het
Gba2	T	C	4: 43,568,716 (GRCm39)	Y620C	probably damaging	Het
Gprc6a	T	C	10: 51,504,364 (GRCm39)	N160S	probably benign	Het
Gstm3	A	G	3: 107,875,493 (GRCm39)	W46R	probably damaging	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Hydin	T	C	8: 111,217,398 (GRCm39)	F1429L	possibly damaging	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Itgb1bp1	A	G	12: 21,326,890 (GRCm39)	S28P	unknown	Het
Krt10	A	G	11: 99,279,792 (GRCm39)	F123L	unknown	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Lingo4	C	T	3: 94,309,493 (GRCm39)	R144*	probably null	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Nrsn1	C	A	13: 25,437,563 (GRCm39)	V122L	probably benign	Het
Or10h5	C	A	17: 33,434,688 (GRCm39)	G210V	possibly damaging	Het
Or2r2	T	C	6: 42,463,507 (GRCm39)	M207V	probably benign	Het
Or4d6	T	A	19: 12,086,056 (GRCm39)	M59L	probably benign	Het
Pcgf6	T	C	19: 47,023,073 (GRCm39)	T353A	probably damaging	Het
Pcsk2	T	C	2: 143,635,150 (GRCm39)	Y342H	probably damaging	Het
Pou2af1	A	T	9: 51,149,636 (GRCm39)	N243Y	possibly damaging	Het
Prkcz	T	C	4: 155,377,659 (GRCm39)	D197G	probably benign	Het
Sec14l4	G	A	11: 3,989,982 (GRCm39)	E94K	probably benign	Het
Sik2	T	C	9: 50,807,139 (GRCm39)	E757G	probably damaging	Het
Sipa1l1	T	A	12: 82,463,763 (GRCm39)	S1154T	possibly damaging	Het
Speer1k	A	T	5: 10,999,020 (GRCm39)	T53S		Het
Ssb	T	C	2: 69,697,865 (GRCm39)	Y175H	probably damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tmcc1	G	C	6: 115,999,071 (GRCm39)	R323G	possibly damaging	Het
Unc13b	C	T	4: 43,182,842 (GRCm39)	R396*	probably null	Het
Vezt	A	G	10: 93,806,183 (GRCm39)	S743P	probably benign	Het
Vmn1r77	A	C	7: 11,775,659 (GRCm39)	N145T	probably damaging	Het
Vmn2r98	A	C	17: 19,285,665 (GRCm39)	T162P	probably benign	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
R1547:St6galnac6	UTSW	2	32,504,977 (GRCm39)	missense	possibly damaging	0.75
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

Predicted Primers

PCR Primer
(F):5'- AGCAACATGACTGGACTGG -3'
(R):5'- TCAGGAGCTGCTCTACCTTG -3'

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

Posted On

2022-11-14