Mutagenetix > Incidental Mutation

Incidental Mutation 'R4385:St6galnac6'

326145

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

041124-MU

Accession Numbers

Essential gene?

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

Stock #

R4385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32489721-32510818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32505036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 181 (I181V)

Ref Sequence

ENSEMBL: ENSMUSP00000138916 (fasta)

Gene Model

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

AlphaFold

Q9JM95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072111
AA Change: I181V

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071983
Gene: ENSMUSG00000026811
AA Change: I181V

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: I183V

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080555
Gene: ENSMUSG00000026811
AA Change: I183V

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: I181V

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092654
Gene: ENSMUSG00000026811
AA Change: I181V

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: I147V

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092655
Gene: ENSMUSG00000026811
AA Change: I147V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113290
AA Change: I147V

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108915
Gene: ENSMUSG00000026811
AA Change: I147V

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

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: I161V

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811
AA Change: I161V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140983
AA Change: I147V

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811
AA Change: I147V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149220

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183538
AA Change: I181V

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138916
Gene: ENSMUSG00000026811
AA Change: I181V

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

probably benign
Transcript: ENSMUST00000143625

Predicted Effect

probably benign
Transcript: ENSMUST00000129165

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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
Abcc3	A	T	11: 94,259,065 (GRCm39)	I426N	probably damaging	Het
Abcc6	C	T	7: 45,644,752 (GRCm39)	V808I	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
Apbb1	A	G	7: 105,216,483 (GRCm39)	S140P	probably benign	Het
Arhgef10	T	A	8: 14,980,157 (GRCm39)	C132*	probably null	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Calr3	T	A	8: 73,182,008 (GRCm39)	D120V	probably damaging	Het
Cdc27	T	C	11: 104,425,640 (GRCm39)	R59G	probably benign	Het
Cfap43	T	C	19: 47,785,568 (GRCm39)	R441G	probably benign	Het
Chsy3	A	G	18: 59,309,424 (GRCm39)	I226V	probably benign	Het
Chsy3	A	T	18: 59,312,546 (GRCm39)	T340S	possibly damaging	Het
Cnot10	T	A	9: 114,460,949 (GRCm39)	K74*	probably null	Het
Col5a1	A	C	2: 27,914,791 (GRCm39)	M136L	probably damaging	Het
Coro2a	A	T	4: 46,541,961 (GRCm39)	I387N	possibly damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Cyfip2	C	T	11: 46,133,230 (GRCm39)	M823I	probably benign	Het
Dcbld2	A	G	16: 58,283,429 (GRCm39)	K555E	probably damaging	Het
Dpep3	A	G	8: 106,704,818 (GRCm39)	M164T	probably damaging	Het
Flg	C	A	3: 93,200,316 (GRCm39)		probably benign	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Ift172	T	C	5: 31,444,311 (GRCm39)	D37G	probably damaging	Het
Iglc1	A	T	16: 18,880,508 (GRCm39)	C104*	probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk1	A	T	7: 43,877,993 (GRCm39)	D83V	probably benign	Het
Klk1b9	T	C	7: 43,443,699 (GRCm39)	V71A	probably benign	Het
Loxhd1	A	G	18: 77,460,607 (GRCm39)	K806R	probably damaging	Het
Metap1	T	C	3: 138,180,824 (GRCm39)	E119G	possibly damaging	Het
Nbea	T	C	3: 55,908,059 (GRCm39)	H1351R	possibly damaging	Het
Nim1k	T	C	13: 120,174,162 (GRCm39)	D244G	probably damaging	Het
Npas1	C	T	7: 16,193,110 (GRCm39)		probably null	Het
Pcdh15	A	G	10: 74,386,322 (GRCm39)	D1136G	probably damaging	Het
Pde6b	A	G	5: 108,575,508 (GRCm39)	I657V	probably benign	Het
Pi4ka	A	G	16: 17,204,129 (GRCm39)	V55A	probably benign	Het
Plxnb2	T	C	15: 89,044,826 (GRCm39)	N1173S	probably damaging	Het
Pramel23	C	T	4: 143,424,584 (GRCm39)		probably null	Het
Ptpn13	T	C	5: 103,681,273 (GRCm39)		probably null	Het
Ptprb	A	G	10: 116,182,772 (GRCm39)	S1483G	probably benign	Het
Rbm48	G	A	5: 3,640,300 (GRCm39)	P360S	probably damaging	Het
Rbp3	G	C	14: 33,677,253 (GRCm39)	E400D	probably benign	Het
Resf1	T	C	6: 149,227,706 (GRCm39)	S251P	possibly damaging	Het
Rfpl4	A	G	7: 5,113,669 (GRCm39)	S165P	possibly damaging	Het
Scn9a	A	T	2: 66,314,900 (GRCm39)	L1595Q	probably damaging	Het
Scp2	A	T	4: 107,928,547 (GRCm39)	V381D	probably damaging	Het
Sec24c	G	A	14: 20,740,841 (GRCm39)	V620M	probably damaging	Het
Slc30a9	T	C	5: 67,473,110 (GRCm39)	Y65H	probably damaging	Het
Sorcs1	A	G	19: 50,178,599 (GRCm39)	I841T	probably benign	Het
Sp140l1	C	T	1: 85,087,057 (GRCm39)		probably null	Het
Spag7	C	T	11: 70,560,029 (GRCm39)	A27T	probably damaging	Het
Tm9sf3	T	C	19: 41,236,372 (GRCm39)	M130V	probably damaging	Het
Ugt3a1	C	T	15: 9,306,565 (GRCm39)	S238F	probably benign	Het
Usp9y	G	A	Y: 1,304,756 (GRCm39)	L2363F	probably damaging	Het
Vmn1r34	T	A	6: 66,614,123 (GRCm39)	H205L	probably damaging	Het
Vps50	C	A	6: 3,516,694 (GRCm39)	Q59K	probably benign	Het
Zeb2	T	A	2: 44,913,074 (GRCm39)	D39V	probably damaging	Het
Zfp146	G	A	7: 29,861,847 (GRCm39)	T65I	probably benign	Het
Zfp36	T	C	7: 28,077,116 (GRCm39)	D264G	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
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'- AAACTGGGCCCTGAGATTGAG -3'
(R):5'- AGAGCCTCAACAGTGCATG -3'

Sequencing Primer
(F):5'- CCTGAGATTGAGCGGGCTGAG -3'
(R):5'- TCAACAGTGCATGCTGGG -3'

Posted On

2015-07-06