Mutagenetix > Incidental Mutations

Incidental Mutation 'R5402:Chst9'

430079

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

042973-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15451924-15760157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15452815 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 230 (S230R)

Ref Sequence

ENSEMBL: ENSMUSP00000049975 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000053017
AA Change: S230R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049975
Gene: ENSMUSG00000047161
AA Change: S230R

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,459,715	D4079E	probably benign	Het
Bcar1	T	C	8: 111,714,330	D344G	probably damaging	Het
Car9	A	G	4: 43,510,213	N265S	probably damaging	Het
Ccr7	A	G	11: 99,145,734	S121P	possibly damaging	Het
Cgnl1	A	G	9: 71,629,321	L1278P	probably damaging	Het
Cped1	G	A	6: 22,143,952	V566M	probably benign	Het
Csf2	A	T	11: 54,247,663	Y117*	probably null	Het
Cwf19l1	C	T	19: 44,133,085		probably null	Het
Cyp2d34	C	T	15: 82,619,086	G69D	probably damaging	Het
Dync2h1	A	T	9: 7,114,949	V170E	probably damaging	Het
Ehbp1l1	T	A	19: 5,716,320	T388S	possibly damaging	Het
Etfa	T	C	9: 55,454,739	I329M	probably benign	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Fmnl2	G	A	2: 53,128,782	V1078I	probably damaging	Het
Fnip2	A	G	3: 79,480,943	L797P	possibly damaging	Het
Gm10130	A	G	2: 150,362,966	I67V	probably benign	Het
Gm13103	G	A	4: 143,851,655		probably null	Het
Gmeb2	A	T	2: 181,255,957		probably null	Het
Greb1l	A	G	18: 10,537,169	T1045A	probably benign	Het
Hapln1	A	G	13: 89,605,411	N232S	probably benign	Het
Hibadh	A	T	6: 52,546,980	M311K	probably benign	Het
Hus1	C	T	11: 9,010,240		probably null	Het
Il31ra	T	C	13: 112,524,135	E640G	probably benign	Het
L3mbtl4	T	C	17: 68,455,774	F101L	probably damaging	Het
Lbr	A	T	1: 181,819,961	M417K	probably benign	Het
Lrig3	T	G	10: 126,008,740	L691R	probably damaging	Het
Mcm3ap	T	A	10: 76,483,314	F792Y	probably benign	Het
Mst1	T	C	9: 108,084,209		probably null	Het
Nova2	C	A	7: 18,958,446	T500K	probably damaging	Het
Nxph4	A	T	10: 127,526,264	C253S	probably damaging	Het
Olfr1193	T	A	2: 88,678,148	S98T	possibly damaging	Het
Olfr31	T	C	14: 14,328,878	Y256H	probably damaging	Het
Pcdhga3	G	A	18: 37,675,694	R400Q	probably benign	Het
Pidd1	C	A	7: 141,438,594	A915S	probably damaging	Het
Plat	T	G	8: 22,772,722	W148G	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ptdss1	A	G	13: 66,933,599	D31G	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Samd8	A	G	14: 21,775,168	D64G	probably damaging	Het
Scgb1b20	A	G	7: 33,373,231		probably null	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc25a23	T	C	17: 57,053,336	I269V	probably benign	Het
Slc35f4	A	T	14: 49,318,874	S141T	probably damaging	Het
Srgap1	T	C	10: 121,785,760	M966V	probably benign	Het
Syne2	T	A	12: 76,059,439	V5526E	probably damaging	Het
Tcaf3	A	G	6: 42,591,926	S596P	probably benign	Het
Tg	T	A	15: 66,739,168	I356N	probably damaging	Het
Ttc6	C	T	12: 57,737,031	R1759*	probably null	Het
Wdsub1	T	C	2: 59,870,478	N138D	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
R5754:Chst9	UTSW	18	15453197	missense	possibly damaging	0.77
R6035:Chst9	UTSW	18	15452853	missense	probably benign	0.13
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'- CAGAGGCATTTGGTCGATATTTC -3'
(R):5'- CGTCGGTCATTCCTTCATGAG -3'

Sequencing Primer
(F):5'- CTTGATAATTGCCTTTCCAAACACCG -3'
(R):5'- GTCATTCCTTCATGAGTTTTGCAAG -3'

Posted On

2016-09-06