Mutagenetix > Incidental Mutations

Incidental Mutation 'R6035:Chst9'

486551

Institutional Source

Beutler Lab

Gene Symbol

Chst9

Ensembl Gene

ENSMUSG00000047161

Gene Name

carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9

Synonyms

5430438D01Rik, GalNAc4ST-2

MMRRC Submission

044207-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R6035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15451924-15760157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15452853 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 218 (T218S)

Ref Sequence

ENSEMBL: ENSMUSP00000049975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053017] [ENSMUST00000130553]

Predicted Effect

probably benign
Transcript: ENSMUST00000053017
AA Change: T218S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000049975
Gene: ENSMUSG00000047161
AA Change: T218S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	68	80	N/A	INTRINSIC
Pfam:Sulfotransfer_2	174	409	1.9e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130553

SMART Domains

Protein: ENSMUSP00000121484
Gene: ENSMUSG00000047161

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

84% (62/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,638,394	G76W	probably damaging	Het
Abca17	A	T	17: 24,281,245	F1324Y	possibly damaging	Het
Abca8b	A	T	11: 109,971,860		probably null	Het
Abcc12	A	G	8: 86,517,404	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,841,806	F7L	probably damaging	Het
Adcy9	T	C	16: 4,304,513	T558A	probably benign	Het
Adgrb1	A	T	15: 74,540,443	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,832,213	P786Q	probably benign	Het
Arhgap39	G	T	15: 76,737,224	Y392*	probably null	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Carmil2	G	T	8: 105,692,563	W749L	probably benign	Het
Ccar1	A	G	10: 62,751,785	Y867H	unknown	Het
Cdh13	A	G	8: 118,505,698	D47G	probably benign	Het
Clec2i	G	A	6: 128,893,624	V67I	probably benign	Het
Cox7a2	T	A	9: 79,759,746		probably benign	Het
Cpz	A	G	5: 35,517,585	C107R	probably damaging	Het
Dapk1	T	A	13: 60,761,199	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,533,968	M307V	probably benign	Het
Defa24	A	G	8: 21,734,549	I5V	probably benign	Het
Dgcr8	A	T	16: 18,258,314	N2K	probably damaging	Het
Ebf2	A	G	14: 67,238,974	D131G	probably damaging	Het
Fam149b	C	T	14: 20,377,917	R424C	probably damaging	Het
Fbln2	G	A	6: 91,263,353	V714M	probably damaging	Het
Fgf5	T	C	5: 98,275,526	Y257H	probably damaging	Het
Fmo3	A	C	1: 162,964,036	V224G	probably damaging	Het
Gigyf2	T	C	1: 87,410,728	I394T	possibly damaging	Het
Glmn	T	A	5: 107,593,880		probably null	Het
Greb1l	T	C	18: 10,501,025	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,608,450	Q365K	probably benign	Het
Gsdme	G	A	6: 50,229,326	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 88,711,534	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Il5ra	G	A	6: 106,741,265	T76I	probably damaging	Het
Itga8	T	C	2: 12,191,714	T631A	probably benign	Het
Kcnh6	G	A	11: 106,019,152		probably null	Het
Krt26	C	T	11: 99,333,589	E368K	probably benign	Het
Lhx9	T	C	1: 138,838,543	D169G	possibly damaging	Het
Lman1l	A	G	9: 57,611,747		probably null	Het
Lmod3	A	G	6: 97,247,273	L529P	probably damaging	Het
Nup155	A	G	15: 8,144,093	T891A	probably benign	Het
Olfr20	T	C	11: 73,353,756	M1T	probably null	Het
Olfr341	T	A	2: 36,479,984	I49F	probably damaging	Het
Olfr409-ps1	T	C	11: 74,317,459	*145R	probably null	Het
Olfr739	A	G	14: 50,424,527	T3A	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Papln	G	C	12: 83,774,680	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,446,035	V160I	probably benign	Het
Pde8b	A	G	13: 95,027,597		probably benign	Het
Ppme1	G	A	7: 100,354,795	R68*	probably null	Het
Prob1	T	C	18: 35,654,782	S140G	probably benign	Het
Ptprn2	A	T	12: 117,255,595	N949Y	probably damaging	Het
Qser1	C	A	2: 104,787,123	D1115Y	probably damaging	Het
Rad54l	G	T	4: 116,097,469	D674E	probably damaging	Het
Ripk4	T	A	16: 97,744,187	D420V	probably damaging	Het
Ros1	G	T	10: 52,077,971	S1857R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	A	G	7: 97,662,109	E682G	probably benign	Het
Samd4	G	A	14: 47,087,872	R515H	probably damaging	Het
Selp	T	A	1: 164,141,510	W560R	probably benign	Het
Shc3	A	T	13: 51,461,432	L163Q	probably damaging	Het
Shh	G	A	5: 28,461,399	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,592,075	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,048,824		probably benign	Het
Smarcd2	A	G	11: 106,266,889		probably null	Het
Sytl3	A	G	17: 6,728,265	D148G	probably damaging	Het
Tnks	G	T	8: 34,918,461	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,202,634		probably benign	Het
Ube3c	T	C	5: 29,601,163	F268L	probably benign	Het
Ugt2b5	T	C	5: 87,139,682	I209V	probably benign	Het
Usp1	A	G	4: 98,929,845	N140S	probably damaging	Het
Vcam1	T	C	3: 116,125,957	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,360,609	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,806,032	N163Y	probably benign	Het
Vmn1r85	A	G	7: 13,084,927	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,334,351	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,951,890	R847C	probably damaging	Het
Wdr70	G	A	15: 7,887,349	T529I	possibly damaging	Het
Zfp532	T	G	18: 65,623,934	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,779,543	N901K	probably benign	Het

Other mutations in Chst9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Chst9	APN	18	15453030	missense	probably benign	0.34
IGL01910:Chst9	APN	18	15452874	missense	possibly damaging	0.90
IGL03038:Chst9	APN	18	15495303	missense	probably benign
IGL03146:Chst9	APN	18	15452978	missense	probably damaging	1.00
PIT4802001:Chst9	UTSW	18	15452792	missense	probably benign	0.01
R0536:Chst9	UTSW	18	15495330	splice site	probably benign
R0647:Chst9	UTSW	18	15452669	missense	probably damaging	1.00
R1240:Chst9	UTSW	18	15453174	missense	probably benign
R1580:Chst9	UTSW	18	15453065	missense	probably benign	0.02
R1892:Chst9	UTSW	18	15452960	missense	probably damaging	1.00
R2420:Chst9	UTSW	18	15452284	missense	probably damaging	1.00
R2446:Chst9	UTSW	18	15452838	missense	possibly damaging	0.90
R4737:Chst9	UTSW	18	15452777	missense	probably damaging	1.00
R4790:Chst9	UTSW	18	15453050	missense	probably damaging	1.00
R4956:Chst9	UTSW	18	15717988	missense	probably damaging	1.00
R5202:Chst9	UTSW	18	15453239	missense	probably benign	0.02
R5402:Chst9	UTSW	18	15452815	missense	probably damaging	0.98
R5754:Chst9	UTSW	18	15453197	missense	possibly damaging	0.77
R6035:Chst9	UTSW	18	15452853	missense	probably benign	0.13
R7225:Chst9	UTSW	18	15452661	missense	probably damaging	0.99
R7801:Chst9	UTSW	18	15452277	missense	probably benign	0.00
R7896:Chst9	UTSW	18	15452789	missense	probably damaging	1.00
R8159:Chst9	UTSW	18	15452308	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AATTGCCTTTCCAAACACCGG -3'
(R):5'- GAAGCGTCGGTCATTCCTTC -3'

Sequencing Primer
(F):5'- CCGGATGGTAGTAACTATTGGGATGC -3'
(R):5'- AGCGTCGGTCATTCCTTCATGAG -3'

Posted On

2017-08-16