Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01727:Tpst2'

105333

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpst2

Ensembl Gene

ENSMUSG00000029344

Gene Name

protein-tyrosine sulfotransferase 2

Synonyms

D5Ucla3, grm, Tango13b, grt

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.763) question?

Stock #

IGL01727

Quality Score

Status

Chromosome

Chromosomal Location

112276691-112315361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112309858 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 351 (D351N)

Ref Sequence

ENSEMBL: ENSMUSP00000071399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031287] [ENSMUST00000071455] [ENSMUST00000151947]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031287
AA Change: D351N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031287
Gene: ENSMUSG00000029344
AA Change: D351N

Domain	Start	End	E-Value	Type
low complexity region	22	43	N/A	INTRINSIC
Pfam:Sulfotransfer_3	82	272	8.8e-19	PFAM
Pfam:Sulfotransfer_1	82	284	2.8e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071455
AA Change: D351N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071399
Gene: ENSMUSG00000029344
AA Change: D351N

Domain	Start	End	E-Value	Type
low complexity region	22	43	N/A	INTRINSIC
Pfam:Sulfotransfer_3	82	276	8.4e-16	PFAM
Pfam:Sulfotransfer_1	82	284	2.8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139482

Predicted Effect

probably benign
Transcript: ENSMUST00000140262

SMART Domains

Protein: ENSMUSP00000116816
Gene: ENSMUSG00000029344

Domain	Start	End	E-Value	Type
PDB:3AP2\|B	2	63	4e-36	PDB
SCOP:d1fmja_	3	55	9e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151947

Predicted Effect

unknown
Transcript: ENSMUST00000198502
AA Change: D82N

Coding Region Coverage

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 catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Spontaneous mutants show a delayed rise and a prolonged deficit of pituitary growth hormone resulting in delayed pubertal growth, hypothyroidism, and an enlarged adenohypophysis with aberrant chromophobic cells. Homozygous null mice show a modest but transient pubertal growth lag and male sterility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,121,553	A292V	probably benign	Het
Ankrd26	A	G	6: 118,511,636	L1354P	probably damaging	Het
Aox1	T	A	1: 58,073,228	C720*	probably null	Het
Aqp5	T	C	15: 99,591,621	L117P	probably damaging	Het
BC005561	A	G	5: 104,519,513	T634A	probably benign	Het
Col9a3	T	C	2: 180,616,565		probably null	Het
Ctrc	T	C	4: 141,843,761	Y56C	probably damaging	Het
Dsc2	T	A	18: 20,038,200	T581S	probably benign	Het
Grap2	T	C	15: 80,634,409	I51T	probably damaging	Het
Herc2	A	G	7: 56,137,806	Y1737C	probably damaging	Het
Hook3	A	G	8: 26,070,159	M346T	probably benign	Het
Lancl1	C	T	1: 67,020,942	C108Y	probably damaging	Het
Lpin2	T	C	17: 71,246,452	C824R	probably damaging	Het
Mlip	T	C	9: 77,239,748	S88G	probably damaging	Het
Mtdh	T	G	15: 34,083,109	L25R	probably damaging	Het
Musk	A	G	4: 58,303,887	I177V	probably benign	Het
Nov	G	A	15: 54,746,238	A45T	probably benign	Het
Olfr1148	T	C	2: 87,833,500	S154P	probably damaging	Het
Olfr1186	A	G	2: 88,525,927	M115V	probably benign	Het
Olfr1504	A	G	19: 13,887,878	C111R	probably damaging	Het
Pabpc4l	C	A	3: 46,446,665	E181D	probably damaging	Het
Pcdh18	A	G	3: 49,755,700	S389P	probably damaging	Het
Ptk7	A	G	17: 46,572,548	Y864H	probably damaging	Het
Rbp4	A	G	19: 38,124,052	V155A	probably benign	Het
Rilpl1	C	T	5: 124,530,944	A14T	possibly damaging	Het
Rnf148	T	A	6: 23,655,002		probably benign	Het
Rnf219	G	A	14: 104,479,387	R517*	probably null	Het
Ska2	T	A	11: 87,116,147	L26Q	probably damaging	Het
Slc29a2	T	A	19: 5,026,458	F125I	probably damaging	Het
Smap2	A	G	4: 120,982,208		probably benign	Het
St6galnac2	C	T	11: 116,685,119	D169N	probably damaging	Het
Supt7l	A	G	5: 31,520,342	V160A	possibly damaging	Het
Susd1	A	G	4: 59,412,329		probably benign	Het
Syne1	T	C	10: 5,047,842	D375G	probably damaging	Het
Trcg1	T	C	9: 57,242,273	I376T	probably benign	Het
Trcg1	T	A	9: 57,242,594	I483N	probably damaging	Het
Tsga10	T	C	1: 37,835,274	E148G	probably damaging	Het
Zranb1	G	T	7: 132,966,620	D336Y	probably damaging	Het

Other mutations in Tpst2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03268:Tpst2	APN	5	112308225	missense	probably damaging	1.00
blooming	UTSW	5	112307757	missense	probably benign
gypsum	UTSW	5	112308045	missense	probably damaging	1.00
hot_springs	UTSW	5	112307678	missense	probably benign	0.05
R1175:Tpst2	UTSW	5	112308045	missense	probably damaging	1.00
R1423:Tpst2	UTSW	5	112307622	missense	probably benign	0.22
R1537:Tpst2	UTSW	5	112308420	missense	possibly damaging	0.48
R2013:Tpst2	UTSW	5	112308014	missense	probably damaging	1.00
R4624:Tpst2	UTSW	5	112308296	missense	probably damaging	1.00
R4873:Tpst2	UTSW	5	112309821	nonsense	probably null
R4875:Tpst2	UTSW	5	112309821	nonsense	probably null
R5272:Tpst2	UTSW	5	112307952	missense	probably damaging	1.00
R6123:Tpst2	UTSW	5	112308218	missense	probably damaging	1.00
R6487:Tpst2	UTSW	5	112308123	missense	probably damaging	1.00
R6605:Tpst2	UTSW	5	112276734	start gained	probably benign
R6688:Tpst2	UTSW	5	112307757	missense	probably benign
R7240:Tpst2	UTSW	5	112307678	missense	probably benign	0.05
R7625:Tpst2	UTSW	5	112308021	missense	probably damaging	1.00
R7777:Tpst2	UTSW	5	112309694	missense	possibly damaging	0.53
R7797:Tpst2	UTSW	5	112307916	missense	probably damaging	1.00

Posted On

2014-01-21