Mutagenetix > Incidental Mutation

Incidental Mutation 'R9507:Chst8'

717874

Institutional Source

Beutler Lab

Gene Symbol

Chst8

Ensembl Gene

ENSMUSG00000060402

Gene Name

carbohydrate sulfotransferase 8

Synonyms

1500011J21Rik, GalNAc4ST-1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9507 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34373893-34512136 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 34447496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 41 (Q41*)

Ref Sequence

ENSEMBL: ENSMUSP00000077752 (fasta)

Gene Model

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

AlphaFold

Q8BQ86

Predicted Effect

probably null
Transcript: ENSMUST00000078686
AA Change: Q41*

SMART Domains

Protein: ENSMUSP00000077752
Gene: ENSMUSG00000060402
AA Change: Q41*

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

probably null
Transcript: ENSMUST00000154629
AA Change: Q41*

SMART Domains

Protein: ENSMUSP00000123498
Gene: ENSMUSG00000060402
AA Change: Q41*

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

Predicted Effect

probably null
Transcript: ENSMUST00000205259
AA Change: Q41*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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 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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	A	G	19: 8,866,587 (GRCm39)	T47A	probably damaging	Het
Acsm2	A	T	7: 119,179,939 (GRCm39)	I386F	probably benign	Het
Actn4	A	T	7: 28,606,397 (GRCm39)	D305E	probably benign	Het
Anln	A	G	9: 22,274,136 (GRCm39)	V567A	probably damaging	Het
Arhgap35	A	G	7: 16,297,343 (GRCm39)	I574T	probably benign	Het
Baz1b	C	A	5: 135,233,971 (GRCm39)	S166Y	probably damaging	Het
Ccdc191	T	C	16: 43,764,192 (GRCm39)	L551P	probably damaging	Het
Cdk5rap2	T	C	4: 70,210,110 (GRCm39)	T713A	probably benign	Het
Cep290	C	A	10: 100,330,785 (GRCm39)	A155E	possibly damaging	Het
Cyp2j6	C	A	4: 96,406,344 (GRCm39)	E476*	probably null	Het
Des	T	C	1: 75,343,434 (GRCm39)	V439A	probably benign	Het
Dimt1	A	G	13: 107,093,656 (GRCm39)	T283A	probably benign	Het
Dmxl1	T	A	18: 50,024,567 (GRCm39)	V1747D	possibly damaging	Het
Fhod1	G	A	8: 106,064,694 (GRCm39)	R137*	probably null	Het
Gab2	A	T	7: 96,953,448 (GRCm39)	D608V	probably damaging	Het
Gdpd1	T	C	11: 86,950,264 (GRCm39)	D103G	possibly damaging	Het
Hspa5	T	C	2: 34,664,610 (GRCm39)	S355P	probably benign	Het
Ide	A	T	19: 37,265,536 (GRCm39)	F619L		Het
Ifrd1	A	C	12: 40,267,225 (GRCm39)	D70E	probably benign	Het
Il18r1	T	A	1: 40,513,884 (GRCm39)	V30E	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcng1	A	G	2: 168,111,152 (GRCm39)	L4S	probably damaging	Het
Lrfn4	A	G	19: 4,664,357 (GRCm39)	F59S	probably damaging	Het
Lrrc15	T	C	16: 30,092,829 (GRCm39)	D170G	probably damaging	Het
Mettl21e	T	A	1: 44,245,536 (GRCm39)	M237L	probably benign	Het
Myh1	A	G	11: 67,102,049 (GRCm39)	K810E	probably benign	Het
Nbea	T	C	3: 55,573,011 (GRCm39)	D2524G	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nutm2	A	T	13: 50,621,455 (GRCm39)	T7S	probably benign	Het
Or10g3b	A	T	14: 52,586,678 (GRCm39)	L275H	probably damaging	Het
Or2a5	G	T	6: 42,873,835 (GRCm39)	C150F	probably benign	Het
Or2t49	T	C	11: 58,392,576 (GRCm39)	T275A	possibly damaging	Het
Or51q1	T	G	7: 103,629,198 (GRCm39)	F266L	probably damaging	Het
Or6k2	T	A	1: 173,986,552 (GRCm39)	I71K	possibly damaging	Het
Or7a39	A	G	10: 78,715,597 (GRCm39)	H197R	probably benign	Het
Pate4	A	G	9: 35,519,538 (GRCm39)	S51P	probably damaging	Het
Rbm19	T	C	5: 120,265,232 (GRCm39)		probably null	Het
Rnf139	A	G	15: 58,770,664 (GRCm39)	K230E	probably damaging	Het
Rpia	G	A	6: 70,754,377 (GRCm39)	Q134*	probably null	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Sbk2	G	A	7: 4,960,277 (GRCm39)	P298S	possibly damaging	Het
Scrt1	A	G	15: 76,403,292 (GRCm39)	S233P	unknown	Het
Sh2b1	CGGGGACCAGCTC	CGGGGACCAGCTCAGCCAAGGGGACCAGCTC	7: 126,066,760 (GRCm39)		probably benign	Het
Sppl2c	T	A	11: 104,078,153 (GRCm39)	Y318N	probably benign	Het
St6galnac4	G	A	2: 32,485,739 (GRCm39)	W215*	probably null	Het
Stxbp6	A	G	12: 45,066,360 (GRCm39)	L15P	probably benign	Het
Tmem104	T	C	11: 115,091,699 (GRCm39)	L74P	probably damaging	Het
Tnfrsf10b	A	G	14: 70,015,221 (GRCm39)	D233G	probably benign	Het
Trmt11	A	C	10: 30,434,938 (GRCm39)	Y369*	probably null	Het
Tusc1	T	A	4: 93,223,245 (GRCm39)	H138L	probably benign	Het
Ush2a	T	A	1: 188,596,937 (GRCm39)	Y3892*	probably null	Het
Xirp2	A	T	2: 67,344,280 (GRCm39)	I2174F	possibly damaging	Het
Zfp947	C	T	17: 22,364,582 (GRCm39)	G364D	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
R1510:Chst8	UTSW	7	34,374,693 (GRCm39)	missense	probably benign	0.00
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
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'- AACCACGGCCTTGAAACTG -3'
(R):5'- TTGTAGACCCCAGCCTGATG -3'

Sequencing Primer
(F):5'- CTTGAAACTGGTGGCCTGAC -3'
(R):5'- CAGCCTGATGGATGTCTGG -3'

Posted On

2022-07-18