Mutagenetix > Incidental Mutation

Incidental Mutation 'R1510:Chst8'

167847

Institutional Source

Beutler Lab

Gene Symbol

Chst8

Ensembl Gene

ENSMUSG00000060402

Gene Name

carbohydrate sulfotransferase 8

Synonyms

1500011J21Rik, GalNAc4ST-1

MMRRC Submission

039557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34373893-34512136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34374693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 382 (H382L)

Ref Sequence

ENSEMBL: ENSMUSP00000145646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078686] [ENSMUST00000154629] [ENSMUST00000205259]

AlphaFold

Q8BQ86

Predicted Effect

probably benign
Transcript: ENSMUST00000078686
AA Change: H382L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077752
Gene: ENSMUSG00000060402
AA Change: H382L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	98	108	N/A	INTRINSIC
Pfam:Sulfotransfer_2	175	410	4.1e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135295

Predicted Effect

probably benign
Transcript: ENSMUST00000154629

SMART Domains

Protein: ENSMUSP00000123498
Gene: ENSMUSG00000060402

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205259
AA Change: H382L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.1976

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (79/79)

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 predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Male mice homozygous for a null allele show higher luteinizing hormone and testosterone levels, early sexual maturation and enlarged seminal vesicles; females show higher LH, estrogen and progesterone levels, early sexual maturation, enlarged uteri, a prolonged estrous cycle and increased fecundity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,073,181 (GRCm39)	L326S	probably damaging	Het
Adam18	T	A	8: 25,115,847 (GRCm39)	T616S	probably benign	Het
Adam22	T	C	5: 8,202,408 (GRCm39)	K215E	probably benign	Het
Ahi1	T	G	10: 20,835,699 (GRCm39)	S11A	probably benign	Het
Asb18	T	C	1: 89,923,976 (GRCm39)	M96V	possibly damaging	Het
Baz2b	T	C	2: 59,752,553 (GRCm39)	D1149G	probably damaging	Het
C1qtnf3	A	G	15: 10,975,722 (GRCm39)	E176G	probably benign	Het
Cd151	T	A	7: 141,050,280 (GRCm39)	S172T	probably benign	Het
Cdh2	G	T	18: 16,781,651 (GRCm39)	L90I	probably benign	Het
Cdkl3	T	C	11: 51,924,341 (GRCm39)	V55A	possibly damaging	Het
Cfap90	T	A	13: 68,745,596 (GRCm39)	M1K	probably null	Het
Cyb5r4	T	C	9: 86,948,696 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,950,209 (GRCm39)	D264G	possibly damaging	Het
Daam1	A	G	12: 72,024,500 (GRCm39)	M814V	probably damaging	Het
Ddx19b	A	G	8: 111,742,285 (GRCm39)	I150T	probably damaging	Het
Dync1li1	T	G	9: 114,518,278 (GRCm39)	S50A	possibly damaging	Het
Fat3	A	T	9: 15,871,351 (GRCm39)	L3680Q	probably damaging	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Gm21286	T	G	4: 60,794,931 (GRCm39)		noncoding transcript	Het
Il6	T	C	5: 30,223,060 (GRCm39)	Y126H	probably damaging	Het
Inhba	G	T	13: 16,201,607 (GRCm39)	V390L	probably damaging	Het
Ino80	C	T	2: 119,280,530 (GRCm39)	R278H	probably damaging	Het
Jade3	T	G	X: 20,384,057 (GRCm39)	N799K	probably benign	Het
Kcnn1	G	A	8: 71,316,714 (GRCm39)		probably benign	Het
Klhl6	T	C	16: 19,765,848 (GRCm39)	T585A	probably damaging	Het
Kmt2d	T	A	15: 98,754,258 (GRCm39)		probably benign	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lce1b	T	G	3: 92,563,283 (GRCm39)	R83S	unknown	Het
Lck	T	C	4: 129,449,461 (GRCm39)	S290G	possibly damaging	Het
Ltbp3	T	C	19: 5,798,915 (GRCm39)	S544P	probably benign	Het
Lypd6b	T	A	2: 49,824,831 (GRCm39)	S4R	probably damaging	Het
Macf1	T	C	4: 123,328,555 (GRCm39)	D4724G	probably null	Het
Mcoln2	A	G	3: 145,882,365 (GRCm39)	T255A	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Mki67	C	A	7: 135,297,900 (GRCm39)	R2378L	probably benign	Het
Mxd1	A	G	6: 86,630,137 (GRCm39)	V27A	possibly damaging	Het
Myo5a	T	C	9: 75,078,833 (GRCm39)	Y864H	probably benign	Het
Ndel1	A	T	11: 68,713,482 (GRCm39)	N318K	possibly damaging	Het
Oasl1	A	G	5: 115,066,167 (GRCm39)	Q95R	probably benign	Het
Or5ac16	A	T	16: 59,022,546 (GRCm39)	M81K	probably damaging	Het
Or5j3	T	C	2: 86,128,715 (GRCm39)	L185P	probably damaging	Het
Or5p57	T	C	7: 107,665,735 (GRCm39)	Y60C	probably damaging	Het
Or6b2b	A	T	1: 92,419,339 (GRCm39)	I46N	probably damaging	Het
Parp10	T	A	15: 76,125,617 (GRCm39)	Q487L	probably damaging	Het
Pcdh10	C	T	3: 45,333,838 (GRCm39)	R51C	probably damaging	Het
Pdpr	A	T	8: 111,851,107 (GRCm39)		probably benign	Het
Pfpl	A	T	19: 12,407,060 (GRCm39)	D437V	probably benign	Het
Pik3c2a	G	A	7: 115,987,280 (GRCm39)	T547I	probably benign	Het
Pkdrej	A	C	15: 85,700,963 (GRCm39)	S1658A	possibly damaging	Het
Pkn3	T	C	2: 29,969,776 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,867,004 (GRCm39)		probably null	Het
Plxdc1	A	T	11: 97,823,150 (GRCm39)	C357S	probably damaging	Het
Pnp	A	G	14: 51,188,042 (GRCm39)	T132A	possibly damaging	Het
Prorp	A	T	12: 55,350,997 (GRCm39)	Q102L	probably benign	Het
Rcan2	A	G	17: 44,147,315 (GRCm39)	D51G	probably damaging	Het
Rcn1	T	C	2: 105,219,434 (GRCm39)	N253S	probably damaging	Het
Rreb1	T	A	13: 38,115,860 (GRCm39)	I1073N	probably benign	Het
Scaf4	G	T	16: 90,042,282 (GRCm39)	D686E	unknown	Het
Sfxn5	A	C	6: 85,213,907 (GRCm39)	M221R	probably damaging	Het
Slc38a1	A	G	15: 96,507,741 (GRCm39)	F104L	probably damaging	Het
Slc8a1	A	T	17: 81,955,547 (GRCm39)	V497D	probably damaging	Het
Spryd3	C	A	15: 102,027,396 (GRCm39)	G290C	probably damaging	Het
Stc2	A	T	11: 31,315,418 (GRCm39)	Y140*	probably null	Het
Stfa2	A	T	16: 36,228,673 (GRCm39)	I8K	possibly damaging	Het
Sult3a2	A	T	10: 33,658,026 (GRCm39)	M29K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Triobp	G	A	15: 78,887,967 (GRCm39)	R1908Q	probably damaging	Het
Trpm2	T	A	10: 77,802,828 (GRCm39)	R7*	probably null	Het
Ttn	T	C	2: 76,782,501 (GRCm39)	I912V	probably benign	Het
Tusc2	T	A	9: 107,442,080 (GRCm39)	V93E	probably damaging	Het
Uhrf2	T	A	19: 30,016,461 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,178,203 (GRCm39)	V60M	probably damaging	Het
Ush2a	A	T	1: 188,380,501 (GRCm39)	D2270V	probably damaging	Het
Vmn2r80	A	G	10: 79,005,553 (GRCm39)	T397A	possibly damaging	Het
Wbp2	A	G	11: 115,977,708 (GRCm39)	V15A	probably benign	Het
Zfp182	T	A	X: 20,896,446 (GRCm39)	R617W	probably damaging	Het
Zfp82	C	A	7: 29,756,047 (GRCm39)	R345L	probably damaging	Het
Zfp85	T	C	13: 67,903,084 (GRCm39)		probably benign	Het

Other mutations in Chst8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02078:Chst8	APN	7	34,374,759 (GRCm39)	missense	possibly damaging	0.66
R0306:Chst8	UTSW	7	34,374,723 (GRCm39)	missense	probably benign
R1445:Chst8	UTSW	7	34,447,593 (GRCm39)	missense	possibly damaging	0.95
R2022:Chst8	UTSW	7	34,374,589 (GRCm39)	missense	possibly damaging	0.92
R2248:Chst8	UTSW	7	34,447,597 (GRCm39)	missense	probably damaging	0.98
R2262:Chst8	UTSW	7	34,375,435 (GRCm39)	missense	probably benign
R4463:Chst8	UTSW	7	34,374,645 (GRCm39)	missense	probably damaging	0.98
R4764:Chst8	UTSW	7	34,375,149 (GRCm39)	missense	probably damaging	0.98
R5379:Chst8	UTSW	7	34,375,279 (GRCm39)	missense	probably damaging	1.00
R5521:Chst8	UTSW	7	34,374,670 (GRCm39)	missense	probably benign
R5679:Chst8	UTSW	7	34,374,729 (GRCm39)	missense	probably damaging	1.00
R6412:Chst8	UTSW	7	34,375,504 (GRCm39)	missense	probably benign	0.03
R7247:Chst8	UTSW	7	34,375,361 (GRCm39)	missense	probably damaging	1.00
R7282:Chst8	UTSW	7	34,447,628 (GRCm39)	critical splice acceptor site	probably null
R7952:Chst8	UTSW	7	34,374,919 (GRCm39)	missense	probably damaging	1.00
R8261:Chst8	UTSW	7	34,447,579 (GRCm39)	missense	possibly damaging	0.94
R9507:Chst8	UTSW	7	34,447,496 (GRCm39)	nonsense	probably null
R9600:Chst8	UTSW	7	34,374,646 (GRCm39)	missense	possibly damaging	0.66
Z1186:Chst8	UTSW	7	34,447,606 (GRCm39)	missense	probably damaging	0.98
Z1191:Chst8	UTSW	7	34,447,606 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGACAGCATAGCTCAGCATAGCTC -3'
(R):5'- ACATCCACTGGGACCATGTTAGCC -3'

Sequencing Primer
(F):5'- CAAGGGTCAAGGTCCATTGTC -3'
(R):5'- GACGATGCCAACTTCTTCCT -3'

Posted On

2014-04-13