Mutagenetix > Incidental Mutation

Incidental Mutation 'R5202:Chst9'

400945

Institutional Source

Beutler Lab

Gene Symbol

Chst9

Ensembl Gene

ENSMUSG00000047161

Gene Name

carbohydrate sulfotransferase 9

Synonyms

5430438D01Rik, GalNAc4ST-2

MMRRC Submission

042777-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

R5202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15584981-15893214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15586296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 89 (I89N)

Ref Sequence

ENSEMBL: ENSMUSP00000049975 (fasta)

Gene Model

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

AlphaFold

Q76EC5

Predicted Effect

probably benign
Transcript: ENSMUST00000053017
AA Change: I89N

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000049975
Gene: ENSMUSG00000047161
AA Change: I89N

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,562,308 (GRCm39)	M312L	probably benign	Het
Adam7	C	A	14: 68,745,305 (GRCm39)	D640Y	possibly damaging	Het
Alcam	T	C	16: 52,094,599 (GRCm39)	Y384C	probably damaging	Het
Apob	A	G	12: 8,063,737 (GRCm39)	E289G	probably damaging	Het
Arhgap15	A	T	2: 43,953,869 (GRCm39)	R198S	probably benign	Het
Bbs2	G	T	8: 94,819,042 (GRCm39)	S109*	probably null	Het
Bfsp1	T	C	2: 143,668,891 (GRCm39)	S569G	probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Csde1	T	G	3: 102,947,250 (GRCm39)	D67E	probably damaging	Het
Csf2rb	T	G	15: 78,233,257 (GRCm39)	S855A	possibly damaging	Het
Cyp4a10	T	A	4: 115,389,812 (GRCm39)	D472E	probably damaging	Het
Cyp4f18	C	A	8: 72,762,940 (GRCm39)	R49L	probably benign	Het
Daam1	G	T	12: 71,991,048 (GRCm39)	V221L	unknown	Het
Dbr1	T	G	9: 99,465,944 (GRCm39)	D507E	probably benign	Het
Dhrs7c	A	G	11: 67,706,627 (GRCm39)	M188V	probably benign	Het
Dicer1	A	T	12: 104,660,990 (GRCm39)	L1688*	probably null	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
E2f3	G	A	13: 30,102,619 (GRCm39)	T91I	probably damaging	Het
Etaa1	A	T	11: 17,897,853 (GRCm39)	V157E	probably damaging	Het
Foxp2	A	T	6: 15,394,770 (GRCm39)	T157S	probably benign	Het
Frem2	A	G	3: 53,458,767 (GRCm39)	V2034A	probably benign	Het
Fzd10	T	C	5: 128,679,180 (GRCm39)	V300A	possibly damaging	Het
Gbf1	A	T	19: 46,256,893 (GRCm39)	M778L	probably benign	Het
Gm17472	T	A	6: 42,958,068 (GRCm39)	N112K	probably benign	Het
Gria4	T	C	9: 4,424,330 (GRCm39)	K845R	probably benign	Het
Hspa4l	T	A	3: 40,736,001 (GRCm39)	S541T	probably benign	Het
Igkv4-68	G	A	6: 69,281,926 (GRCm39)	R82C	probably damaging	Het
Itgb1	A	T	8: 129,446,491 (GRCm39)	I383F	probably damaging	Het
Kcnk12	T	A	17: 88,054,033 (GRCm39)	K210*	probably null	Het
Limch1	C	G	5: 67,150,516 (GRCm39)	D163E	probably damaging	Het
Mbd4	A	T	6: 115,826,363 (GRCm39)	D188E	probably damaging	Het
Myh9	C	T	15: 77,665,310 (GRCm39)		probably null	Het
Nbeal2	T	C	9: 110,473,734 (GRCm39)	E28G	probably damaging	Het
Nfatc4	A	G	14: 56,064,116 (GRCm39)	E201G	probably damaging	Het
Nrap	G	A	19: 56,323,583 (GRCm39)	H1330Y	probably damaging	Het
Nudt14	A	G	12: 112,898,648 (GRCm39)	S151P	probably damaging	Het
Or14c45	C	A	7: 86,176,324 (GRCm39)	R120S	probably damaging	Het
Or2ag2	T	A	7: 106,485,803 (GRCm39)	T74S	possibly damaging	Het
Or7e165	T	A	9: 19,694,514 (GRCm39)	F28L	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr9	A	G	9: 95,442,163 (GRCm39)	D51G	probably damaging	Het
Pcgf5	T	A	19: 36,414,583 (GRCm39)	F80I	probably damaging	Het
Pkhd1	T	G	1: 20,617,565 (GRCm39)	S1007R	probably benign	Het
Rab30	T	C	7: 92,485,121 (GRCm39)	Y196H	probably benign	Het
Setd2	A	T	9: 110,380,298 (GRCm39)	D1371V	probably damaging	Het
Slc48a1	A	T	15: 97,688,581 (GRCm39)	I140F	possibly damaging	Het
Sorl1	A	G	9: 41,944,879 (GRCm39)	V882A	probably benign	Het
Sptbn2	G	T	19: 4,774,212 (GRCm39)	G88W	probably damaging	Het
Tdrd12	A	G	7: 35,189,455 (GRCm39)	V427A	possibly damaging	Het
Tekt2	T	C	4: 126,218,463 (GRCm39)	D69G	probably benign	Het
Tie1	C	T	4: 118,337,707 (GRCm39)	V463I	probably benign	Het
Tmem150c	G	T	5: 100,227,813 (GRCm39)	H217N	probably damaging	Het
Tnks2	G	A	19: 36,866,252 (GRCm39)	G1080R	probably damaging	Het
Ttll4	G	A	1: 74,727,011 (GRCm39)		probably null	Het

Other mutations in Chst9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Chst9	APN	18	15,586,087 (GRCm39)	missense	probably benign	0.34
IGL01910:Chst9	APN	18	15,585,931 (GRCm39)	missense	possibly damaging	0.90
IGL03038:Chst9	APN	18	15,628,360 (GRCm39)	missense	probably benign
IGL03146:Chst9	APN	18	15,586,035 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Chst9	UTSW	18	15,585,849 (GRCm39)	missense	probably benign	0.01
R0536:Chst9	UTSW	18	15,628,387 (GRCm39)	splice site	probably benign
R0647:Chst9	UTSW	18	15,585,726 (GRCm39)	missense	probably damaging	1.00
R1240:Chst9	UTSW	18	15,586,231 (GRCm39)	missense	probably benign
R1580:Chst9	UTSW	18	15,586,122 (GRCm39)	missense	probably benign	0.02
R1892:Chst9	UTSW	18	15,586,017 (GRCm39)	missense	probably damaging	1.00
R2420:Chst9	UTSW	18	15,585,341 (GRCm39)	missense	probably damaging	1.00
R2446:Chst9	UTSW	18	15,585,895 (GRCm39)	missense	possibly damaging	0.90
R4737:Chst9	UTSW	18	15,585,834 (GRCm39)	missense	probably damaging	1.00
R4790:Chst9	UTSW	18	15,586,107 (GRCm39)	missense	probably damaging	1.00
R4956:Chst9	UTSW	18	15,851,045 (GRCm39)	missense	probably damaging	1.00
R5402:Chst9	UTSW	18	15,585,872 (GRCm39)	missense	probably damaging	0.98
R5754:Chst9	UTSW	18	15,586,254 (GRCm39)	missense	possibly damaging	0.77
R6035:Chst9	UTSW	18	15,585,910 (GRCm39)	missense	probably benign	0.13
R6035:Chst9	UTSW	18	15,585,910 (GRCm39)	missense	probably benign	0.13
R7225:Chst9	UTSW	18	15,585,718 (GRCm39)	missense	probably damaging	0.99
R7801:Chst9	UTSW	18	15,585,334 (GRCm39)	missense	probably benign	0.00
R7896:Chst9	UTSW	18	15,585,846 (GRCm39)	missense	probably damaging	1.00
R8159:Chst9	UTSW	18	15,585,365 (GRCm39)	nonsense	probably null
R8776:Chst9	UTSW	18	15,586,086 (GRCm39)	missense	possibly damaging	0.72
R8776-TAIL:Chst9	UTSW	18	15,586,086 (GRCm39)	missense	possibly damaging	0.72
R8810:Chst9	UTSW	18	15,850,983 (GRCm39)	missense	probably benign	0.00
R8861:Chst9	UTSW	18	15,585,630 (GRCm39)	missense	possibly damaging	0.88
R9285:Chst9	UTSW	18	15,586,017 (GRCm39)	missense	probably damaging	1.00
R9780:Chst9	UTSW	18	15,586,221 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2016-07-06