Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Chst9'

562123

Institutional Source

Beutler Lab

Gene Symbol

Chst9

Ensembl Gene

ENSMUSG00000047161

Gene Name

carbohydrate sulfotransferase 9

Synonyms

5430438D01Rik, GalNAc4ST-2

MMRRC Submission

045297-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15584981-15893214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15585718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 282 (K282E)

Ref Sequence

ENSEMBL: ENSMUSP00000049975 (fasta)

Gene Model

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

AlphaFold

Q76EC5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053017
AA Change: K282E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049975
Gene: ENSMUSG00000047161
AA Change: K282E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,637,299 (GRCm39)		probably benign	Het
5730480H06Rik	T	A	5: 48,537,575 (GRCm39)		probably null	Het
Actn4	A	T	7: 28,598,124 (GRCm39)	V492D	probably damaging	Het
Alpk2	T	C	18: 65,438,270 (GRCm39)	E1041G	probably benign	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Cd22	C	T	7: 30,577,059 (GRCm39)	A83T	not run	Het
Cdan1	T	C	2: 120,555,393 (GRCm39)	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,159 (GRCm39)	S733F	probably damaging	Het
Cfap54	A	G	10: 92,740,236 (GRCm39)	F2282S	unknown	Het
Clcn1	G	A	6: 42,270,396 (GRCm39)	D232N	probably damaging	Het
Clpb	T	A	7: 101,360,672 (GRCm39)	L234Q	probably damaging	Het
Cluh	T	G	11: 74,557,232 (GRCm39)		probably null	Het
Cnp	C	T	11: 100,471,413 (GRCm39)	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Dtx3	C	T	10: 127,027,358 (GRCm39)	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756 (GRCm39)	I1156T	probably benign	Het
Epg5	T	A	18: 78,055,917 (GRCm39)	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,390,058 (GRCm39)	D211G	probably benign	Het
Fank1	A	G	7: 133,454,988 (GRCm39)	K36R	probably benign	Het
Fat4	T	C	3: 39,034,325 (GRCm39)	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,460,033 (GRCm39)	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,514,391 (GRCm39)	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,789,710 (GRCm39)	V528G	probably damaging	Het
Gria2	T	A	3: 80,709,938 (GRCm39)		probably benign	Het
Htatip2	A	G	7: 49,420,604 (GRCm39)	E150G	possibly damaging	Het
Jak3	C	A	8: 72,138,155 (GRCm39)	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,061,844 (GRCm39)	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,225,694 (GRCm39)	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,604,111 (GRCm39)	V88A	probably benign	Het
Lmod3	T	A	6: 97,224,345 (GRCm39)	D492V	probably benign	Het
Lurap1l	A	C	4: 80,829,718 (GRCm39)	S43R	probably benign	Het
Mamdc4	T	C	2: 25,455,558 (GRCm39)	H890R	possibly damaging	Het
Mertk	T	G	2: 128,643,482 (GRCm39)	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,212,966 (GRCm39)	D346E	probably benign	Het
Obi1	T	C	14: 104,717,294 (GRCm39)	T360A	probably benign	Het
Opa1	A	G	16: 29,432,857 (GRCm39)		probably null	Het
Or5an1	A	T	19: 12,260,831 (GRCm39)	T140S	probably benign	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Paxbp1	T	C	16: 90,823,956 (GRCm39)	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,577,490 (GRCm39)	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,410,337 (GRCm39)	V2615F	probably damaging	Het
Plin3	T	C	17: 56,593,541 (GRCm39)	T58A	possibly damaging	Het
Por	A	G	5: 135,761,441 (GRCm39)	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,515,353 (GRCm39)	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,511,927 (GRCm39)	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,928 (GRCm39)	G1006E	possibly damaging	Het
Rpl12	C	T	2: 32,851,909 (GRCm39)		probably benign	Het
Rpsa	T	G	9: 119,960,222 (GRCm39)	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,255,828 (GRCm39)	N991K	probably damaging	Het
Shank2	T	A	7: 143,838,762 (GRCm39)	N19K	probably benign	Het
Sik1	T	C	17: 32,073,274 (GRCm39)	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,098,853 (GRCm39)	V472G	probably damaging	Het
Sirt6	A	G	10: 81,458,315 (GRCm39)	S313P	probably benign	Het
Slc12a7	A	G	13: 73,912,081 (GRCm39)		probably benign	Het
Sox13	A	T	1: 133,314,862 (GRCm39)	V266E	probably benign	Het
Spag9	T	C	11: 93,988,184 (GRCm39)	C833R	probably damaging	Het
Tcof1	T	C	18: 60,961,520 (GRCm39)	T812A	unknown	Het
Tnfsf4	A	G	1: 161,244,821 (GRCm39)	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,469,082 (GRCm39)	N357S	probably damaging	Het
Txk	C	T	5: 72,858,057 (GRCm39)	D418N	probably damaging	Het
Ube2j2	A	G	4: 156,033,773 (GRCm39)		probably null	Het
Vmn2r84	G	A	10: 130,222,552 (GRCm39)	P556L	probably damaging	Het
Zfp1007	T	C	5: 109,825,015 (GRCm39)	H145R	possibly damaging	Het
Zfp442	T	C	2: 150,250,925 (GRCm39)	N326D	probably benign	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
R5202:Chst9	UTSW	18	15,586,296 (GRCm39)	missense	probably benign	0.02
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
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

PCR Primer
(F):5'- AAGTAATTGGCATCCTCTCCTAAGG -3'
(R):5'- ATACTGTGCACTATGGGAAGC -3'

Sequencing Primer
(F):5'- GGCATCCTCTCCTAAGGTCTCAAAC -3'
(R):5'- ATACTGTGCACTATGGGAAGCATCTG -3'

Posted On

2019-06-26