Mutagenetix > Incidental Mutation

Incidental Mutation 'R4394:Tpst1'

326523

Institutional Source

Beutler Lab

Gene Symbol

Tpst1

Ensembl Gene

ENSMUSG00000034118

Gene Name

protein-tyrosine sulfotransferase 1

Synonyms

Tango13a

MMRRC Submission

041683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R4394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130102167-130164570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130131343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 271 (M271K)

Ref Sequence

ENSEMBL: ENSMUSP00000112571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040721] [ENSMUST00000118993] [ENSMUST00000142838]

AlphaFold

O70281

Predicted Effect

probably benign
Transcript: ENSMUST00000040721
AA Change: M271K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035614
Gene: ENSMUSG00000034118
AA Change: M271K

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_3	70	260	1.7e-19	PFAM
Pfam:Sulfotransfer_1	70	273	4.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118993
AA Change: M271K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112571
Gene: ENSMUSG00000034118
AA Change: M271K

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_3	70	264	3.6e-17	PFAM
Pfam:Sulfotransfer_1	70	273	4.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142838

SMART Domains

Protein: ENSMUSP00000119880
Gene: ENSMUSG00000034118

Domain	Start	End	E-Value	Type
PDB:3AP3\|D	62	120	4e-27	PDB
SCOP:d1j99a_	70	105	4e-9	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

99% (69/70)

MGI Phenotype

PHENOTYPE: Homozygous null mice exhibit reduced body weight but develop normally. Homozygous females produce smaller sized litters than control females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,813,566 (GRCm39)	F391L	probably damaging	Het
AC140205.10	C	A	8: 21,323,181 (GRCm39)	T192K	probably benign	Het
Arid4b	T	A	13: 14,329,557 (GRCm39)		probably null	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Brip1	A	T	11: 85,965,124 (GRCm39)	N855K	possibly damaging	Het
Ces2f	A	G	8: 105,677,586 (GRCm39)	N197S	probably damaging	Het
Chd4	A	G	6: 125,098,581 (GRCm39)	T1520A	probably damaging	Het
Cltc	A	C	11: 86,624,456 (GRCm39)	N159K	probably damaging	Het
Cntn1	C	T	15: 92,189,645 (GRCm39)	T656I	probably damaging	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Dzip1l	T	A	9: 99,521,907 (GRCm39)	L181H	probably damaging	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fat3	A	G	9: 15,834,088 (GRCm39)	I4168T	probably benign	Het
Fbxw20	T	C	9: 109,061,398 (GRCm39)	D117G	probably benign	Het
Gm8122	A	G	14: 43,091,525 (GRCm39)	L81P	unknown	Het
Hal	T	C	10: 93,332,421 (GRCm39)		probably benign	Het
Hgf	T	A	5: 16,823,949 (GRCm39)	Y715*	probably null	Het
Hid1	T	A	11: 115,258,468 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Jrkl	G	A	9: 13,245,146 (GRCm39)	Q172*	probably null	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lman2l	A	C	1: 36,478,804 (GRCm39)	C103G	probably damaging	Het
Lrfn5	T	C	12: 61,890,276 (GRCm39)	S522P	probably damaging	Het
Mark3	A	T	12: 111,570,957 (GRCm39)	I86L	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mgst2	G	A	3: 51,571,949 (GRCm39)	V26I	probably damaging	Het
Neb	A	T	2: 52,077,525 (GRCm39)	Y158*	probably null	Het
Nipbl	T	C	15: 8,391,345 (GRCm39)	I210V	probably benign	Het
Or7g18	A	T	9: 18,786,907 (GRCm39)	I95L	probably damaging	Het
Or8j3b	C	T	2: 86,205,523 (GRCm39)	A78T	possibly damaging	Het
Pcdhb8	C	T	18: 37,489,935 (GRCm39)	P538S	probably damaging	Het
Postn	A	G	3: 54,278,376 (GRCm39)	D295G	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psen2	A	T	1: 180,068,347 (GRCm39)	V102E	probably damaging	Het
Ptpn9	A	T	9: 56,943,847 (GRCm39)	K126N	possibly damaging	Het
Ptprd	A	G	4: 76,046,922 (GRCm39)	I435T	probably damaging	Het
Rab39	T	C	9: 53,597,950 (GRCm39)	K105R	probably benign	Het
Robo2	C	A	16: 73,745,267 (GRCm39)	R840L	probably benign	Het
Rps6ka5	T	A	12: 100,547,578 (GRCm39)	I311F	probably damaging	Het
Ryr1	G	T	7: 28,793,667 (GRCm39)	T1267K	possibly damaging	Het
Sis	G	A	3: 72,863,482 (GRCm39)	T252I	probably damaging	Het
Slc41a3	A	T	6: 90,612,312 (GRCm39)	S201C	probably damaging	Het
Slitrk1	A	C	14: 109,148,735 (GRCm39)	S659A	probably benign	Het
Snx25	A	T	8: 46,488,715 (GRCm39)	M880K	probably damaging	Het
Tbxas1	C	T	6: 39,004,713 (GRCm39)	T320I	probably benign	Het
Tex44	T	C	1: 86,355,489 (GRCm39)	V466A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Trank1	C	T	9: 111,194,265 (GRCm39)	T763I	possibly damaging	Het
Trip12	A	T	1: 84,703,462 (GRCm39)	H729Q	probably damaging	Het
Tshz3	A	T	7: 36,469,030 (GRCm39)	T340S	probably damaging	Het
Ttc5	T	C	14: 51,018,962 (GRCm39)	K52E	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Wsb2	T	G	5: 117,501,643 (GRCm39)		probably benign	Het

Other mutations in Tpst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Tpst1	APN	5	130,130,975 (GRCm39)	missense	probably benign	0.19
IGL02193:Tpst1	APN	5	130,130,737 (GRCm39)	missense	possibly damaging	0.82
IGL03115:Tpst1	APN	5	130,130,752 (GRCm39)	missense	probably damaging	1.00
R0138:Tpst1	UTSW	5	130,130,627 (GRCm39)	missense	probably damaging	1.00
R1764:Tpst1	UTSW	5	130,143,343 (GRCm39)	missense	possibly damaging	0.91
R2104:Tpst1	UTSW	5	130,131,202 (GRCm39)	missense	probably benign
R4611:Tpst1	UTSW	5	130,130,547 (GRCm39)	missense	probably damaging	0.99
R5164:Tpst1	UTSW	5	130,130,842 (GRCm39)	missense	probably damaging	1.00
R6454:Tpst1	UTSW	5	130,130,892 (GRCm39)	missense	possibly damaging	0.58
R6838:Tpst1	UTSW	5	130,131,279 (GRCm39)	missense	probably benign	0.00
R7107:Tpst1	UTSW	5	130,143,344 (GRCm39)	missense	probably damaging	0.99
R8208:Tpst1	UTSW	5	130,130,751 (GRCm39)	missense	probably benign	0.41
R9194:Tpst1	UTSW	5	130,130,860 (GRCm39)	missense	possibly damaging	0.61
R9332:Tpst1	UTSW	5	130,163,301 (GRCm39)	missense	probably benign	0.00
R9642:Tpst1	UTSW	5	130,130,959 (GRCm39)	missense	probably damaging	0.99
R9796:Tpst1	UTSW	5	130,163,300 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGAACCGGGCCATAGAAAC -3'
(R):5'- AACATATGCGGGTGTACGTCTTG -3'

Sequencing Primer
(F):5'- GAAACCATGTACAACCAGTGTATG -3'
(R):5'- CGTAACACTTCATAGACCTGGTTGG -3'

Posted On

2015-07-06