Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02736:St6galnac6'

305669

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL02736

Quality Score

Status

Chromosome

Chromosomal Location

32489721-32510818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32504983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 129 (R129H)

Ref Sequence

ENSEMBL: ENSMUSP00000114934 (fasta)

Gene Model

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

AlphaFold

Q9JM95

Predicted Effect

probably benign
Transcript: ENSMUST00000072111
AA Change: R163H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000071983
Gene: ENSMUSG00000026811
AA Change: R163H

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: R165H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000080555
Gene: ENSMUSG00000026811
AA Change: R165H

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: R163H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000092654
Gene: ENSMUSG00000026811
AA Change: R163H

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: R129H

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

SMART Domains

Protein: ENSMUSP00000092655
Gene: ENSMUSG00000026811
AA Change: R129H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113290
AA Change: R129H

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

SMART Domains

Protein: ENSMUSP00000108915
Gene: ENSMUSG00000026811
AA Change: R129H

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

probably benign
Transcript: ENSMUST00000183538
AA Change: R163H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000138916
Gene: ENSMUSG00000026811
AA Change: R163H

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: ENSMUST00000131229
AA Change: R143H

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811
AA Change: R143H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140983
AA Change: R129H

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811
AA Change: R129H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149220

Predicted Effect

probably benign
Transcript: ENSMUST00000129165

Predicted Effect

probably benign
Transcript: ENSMUST00000143625

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 12,042,275 (GRCm39)	A416T	probably benign	Het
Aadacl4fm1	G	A	4: 144,255,207 (GRCm39)	R209K	probably benign	Het
Akap12	A	G	10: 4,305,637 (GRCm39)	I816V	probably benign	Het
Antxrl	A	G	14: 33,778,575 (GRCm39)		probably benign	Het
Atp1a3	G	A	7: 24,679,534 (GRCm39)	T920I	probably damaging	Het
Cd22	C	T	7: 30,577,470 (GRCm39)		probably null	Het
Cntn3	T	A	6: 102,180,900 (GRCm39)	N765I	probably damaging	Het
Cracdl	T	C	1: 37,676,954 (GRCm39)	E76G	probably damaging	Het
Crebbp	G	A	16: 3,972,774 (GRCm39)	P307S	probably benign	Het
Dapk2	T	A	9: 66,176,198 (GRCm39)	M333K	probably benign	Het
Decr1	T	A	4: 15,930,952 (GRCm39)	T127S	probably benign	Het
Dnmbp	A	T	19: 43,838,209 (GRCm39)		probably benign	Het
Erbin	A	G	13: 103,975,903 (GRCm39)	S664P	probably damaging	Het
Hectd4	G	T	5: 121,480,782 (GRCm39)	C2941F	possibly damaging	Het
Ighv1-4	A	G	12: 114,450,872 (GRCm39)	Y79H	probably benign	Het
Matn3	T	A	12: 9,005,422 (GRCm39)	D277E	possibly damaging	Het
Mgarp	C	A	3: 51,303,866 (GRCm39)	A36S	possibly damaging	Het
Mycbp2	A	G	14: 103,351,678 (GRCm39)		probably benign	Het
Nynrin	G	A	14: 56,108,366 (GRCm39)	A1158T	probably damaging	Het
Or4k5	G	A	14: 50,385,881 (GRCm39)	A150V	probably benign	Het
Or6k14	T	G	1: 173,927,213 (GRCm39)	I63S	probably damaging	Het
Pakap	C	A	4: 57,709,721 (GRCm39)	A222E	probably damaging	Het
Pkd1l2	T	C	8: 117,767,405 (GRCm39)	D1295G	probably benign	Het
Ppig	A	G	2: 69,566,438 (GRCm39)	I171M	probably damaging	Het
Ptprs	A	T	17: 56,765,248 (GRCm39)	V12E	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rpgrip1l	T	A	8: 91,990,219 (GRCm39)	Q741L	possibly damaging	Het
Slco6d1	T	C	1: 98,356,036 (GRCm39)	V157A	possibly damaging	Het
Sox6	A	C	7: 115,179,875 (GRCm39)	D302E	probably damaging	Het
Spata3	T	C	1: 85,952,157 (GRCm39)	V136A	probably damaging	Het
Tmem184c	A	T	8: 78,324,475 (GRCm39)	D338E	probably damaging	Het
Tmem67	A	G	4: 12,045,789 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,708,614 (GRCm39)		probably benign	Het
Usp16	T	C	16: 87,261,723 (GRCm39)	V113A	possibly damaging	Het
Utrn	A	G	10: 12,297,384 (GRCm39)	Y675H	probably damaging	Het
Zc3h4	T	A	7: 16,151,308 (GRCm39)	Y117*	probably null	Het
Zc3h7b	A	T	15: 81,676,175 (GRCm39)	M694L	probably benign	Het
Zfp345	A	T	2: 150,316,474 (GRCm39)	Y45N	probably damaging	Het

Other mutations in St6galnac6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9753:St6galnac6	UTSW	2	32,502,261 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16