Mutagenetix > Incidental Mutations

Incidental Mutation 'R7368:St6galnac2'

571948

Institutional Source

Beutler Lab

Gene Symbol

St6galnac2

Ensembl Gene

ENSMUSG00000110170

Gene Name

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

Synonyms

Siat7b, ST6GalNAc II, Siat7

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R7368 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116677483-116681290 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116679979 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 261 (Y261C)

Ref Sequence

ENSEMBL: ENSMUSP00000078501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079545] [ENSMUST00000106378] [ENSMUST00000139934] [ENSMUST00000142834] [ENSMUST00000144398]

Predicted Effect

probably damaging
Transcript: ENSMUST00000079545
AA Change: Y261C

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

SMART Domains

Protein: ENSMUSP00000078501
Gene: ENSMUSG00000057286
AA Change: Y261C

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_transf_29	90	373	2.9e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106378

Predicted Effect

probably benign
Transcript: ENSMUST00000131260

Predicted Effect

probably benign
Transcript: ENSMUST00000139934

Predicted Effect

probably benign
Transcript: ENSMUST00000142834

Predicted Effect

probably benign
Transcript: ENSMUST00000144398

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased body weight, decreased IgQ, increased B cell proliferation, increased pre-B cell number, abnormal erythropoiesis, increased ALT, decreased creatinine level and prominent spleen germinal center. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,612,865	F153I	possibly damaging	Het
Adcy1	G	A	11: 7,144,765	V564I	probably damaging	Het
Apol9b	T	C	15: 77,735,934	I310T	possibly damaging	Het
Arhgef28	C	A	13: 97,996,862	V366F	probably benign	Het
B020004C17Rik	C	T	14: 57,017,316	T199I	possibly damaging	Het
Carmil2	C	T	8: 105,690,835	T575I	possibly damaging	Het
Catsper1	A	T	19: 5,336,663	Q308L	unknown	Het
Cpa2	T	A	6: 30,551,990	S239T	probably damaging	Het
Ddit3	G	A	10: 127,295,907	G108D	probably damaging	Het
Dnah3	T	C	7: 120,029,016	I1473V	probably benign	Het
Dscam	A	G	16: 96,643,931	V1520A	probably benign	Het
Edc4	TAGTAGCAGCAGCAGTAGCAGCAGCAG	TAGTAGCAGCAGCAG	8: 105,888,405		probably benign	Het
Ednrb	T	A	14: 103,820,017	I370F	probably benign	Het
Ehd3	A	G	17: 73,827,462	E272G	possibly damaging	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fam49b	A	T	15: 63,938,658		probably null	Het
Fkbp11	T	C	15: 98,724,426	K189E	unknown	Het
Frem1	T	A	4: 82,966,144	E1190D	probably benign	Het
Gabrg2	A	C	11: 41,976,563	Y76*	probably null	Het
Gm11437	T	A	11: 84,167,472		probably benign	Het
Gm8947	C	A	1: 151,193,096	Q227K	probably benign	Het
Gm9195	A	G	14: 72,480,056	F279S	probably damaging	Het
Gpbp1l1	T	C	4: 116,573,458	I42T	probably benign	Het
Hdac5	A	T	11: 102,197,381	V939E	probably null	Het
Hivep3	CGG	CG	4: 120,097,911		probably null	Het
Kitl	A	T	10: 100,016,081	I21F	probably benign	Het
Krt1	T	C	15: 101,846,872	D484G	probably damaging	Het
Larp1	C	A	11: 58,048,078	P527T	probably damaging	Het
Lrp5	A	G	19: 3,620,085	V673A	possibly damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Mmp27	G	A	9: 7,577,317	V228M	probably damaging	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo15	G	T	11: 60,490,915		probably null	Het
Myt1	A	G	2: 181,782,591	K26E	possibly damaging	Het
Nek1	T	A	8: 61,089,707	I777N	probably benign	Het
Nlrc5	C	T	8: 94,476,393	R374*	probably null	Het
Nol8	T	C	13: 49,661,219	S268P	probably benign	Het
Nynrin	T	A	14: 55,870,511	L1025Q	probably damaging	Het
Olfr1099	A	G	2: 86,959,258	S67P	probably damaging	Het
Osbpl3	A	T	6: 50,348,098	L140H	probably damaging	Het
Pcnt	T	C	10: 76,400,001	N1382S	probably benign	Het
Pef1	T	A	4: 130,127,385	L244*	probably null	Het
Phf11a	T	C	14: 59,280,725	E191G	probably benign	Het
Polr3a	A	T	14: 24,467,076	D702E	probably damaging	Het
Ptch1	C	T	13: 63,511,984	G1285D	probably benign	Het
Ptpn3	T	C	4: 57,221,993	D566G	probably damaging	Het
Pwp2	C	T	10: 78,182,480	G126R	probably damaging	Het
Scgb1b12	T	C	7: 32,334,567	I84T	probably damaging	Het
Sh2b1	A	T	7: 126,468,513	D618E	possibly damaging	Het
Slc35f5	T	A	1: 125,584,519	V352E	probably damaging	Het
Sppl2c	A	G	11: 104,187,604	E410G	probably damaging	Het
Stra6	G	A	9: 58,151,260	R468Q	probably benign	Het
Taf3	T	C	2: 9,916,377	H924R	unknown	Het
Tbx18	C	A	9: 87,730,697	V50L	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Unc45b	C	T	11: 82,942,495	T845I	probably benign	Het
Usp15	T	C	10: 123,196,893	D8G	possibly damaging	Het
Vmn2r91	A	G	17: 18,136,278	I736V	possibly damaging	Het
Vps13c	C	A	9: 67,914,073	D1288E	probably benign	Het
Zfp458	T	A	13: 67,257,236	M380L	probably benign	Het
Zfp638	A	G	6: 83,929,455	N201D	possibly damaging	Het

Other mutations in St6galnac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01714:St6galnac2	APN	11	116685119	missense	probably damaging	1.00
IGL01726:St6galnac2	APN	11	116685119	missense	probably damaging	1.00
IGL01727:St6galnac2	APN	11	116685119	missense	probably damaging	1.00
IGL01733:St6galnac2	APN	11	116685119	missense	probably damaging	1.00
IGL03353:St6galnac2	APN	11	116690302	splice site	probably benign
R1521:St6galnac2	UTSW	11	116684347	missense	possibly damaging	0.79
R1524:St6galnac2	UTSW	11	116684487	unclassified	probably benign
R1855:St6galnac2	UTSW	11	116690315	missense	probably benign	0.02
R2307:St6galnac2	UTSW	11	116681905	missense	probably damaging	1.00
R4079:St6galnac2	UTSW	11	116681898	missense	possibly damaging	0.69
R4658:St6galnac2	UTSW	11	116684525	unclassified	probably benign
R5174:St6galnac2	UTSW	11	116681947	missense	probably damaging	0.99
R5436:St6galnac2	UTSW	11	116684527	unclassified	probably benign
R5655:St6galnac2	UTSW	11	116685146	missense	probably damaging	1.00
R6584:St6galnac2	UTSW	11	116694504	missense	probably benign	0.06
R6702:St6galnac2	UTSW	11	116684387	missense	probably benign	0.38
R6703:St6galnac2	UTSW	11	116684387	missense	probably benign	0.38
R7090:St6galnac2	UTSW	11	116677635	missense	probably damaging	1.00
R7607:St6galnac2	UTSW	11	116679979	missense	probably damaging	1.00
R7728:St6galnac2	UTSW	11	116679985	missense	probably benign	0.02
R7751:St6galnac2	UTSW	11	116677584	missense	probably damaging	1.00
R7851:St6galnac2	UTSW	11	116685938	missense	probably benign	0.04
R7970:St6galnac2	UTSW	11	116690343	missense	probably benign
R8191:St6galnac2	UTSW	11	116681922	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGCATTTAGTGTGCCATTGGG -3'
(R):5'- GTTCCATCTGTGCTACCAGC -3'

Sequencing Primer
(F):5'- CCCAGTGTGTAGTGAAACAGGTTC -3'
(R):5'- GTGCTACCAGCCACCTTCTATAC -3'

Posted On

2019-09-13