Incidental Mutation 'R6123:Tpst2'
ID |
485826 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpst2
|
Ensembl Gene |
ENSMUSG00000029344 |
Gene Name |
protein-tyrosine sulfotransferase 2 |
Synonyms |
D5Ucla3, grt, grm, Tango13b |
MMRRC Submission |
044270-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.735)
|
Stock # |
R6123 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
112424557-112463227 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 112456084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 208
(R208C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031287]
[ENSMUST00000071455]
[ENSMUST00000151947]
|
AlphaFold |
O88856 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031287
AA Change: R208C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031287 Gene: ENSMUSG00000029344 AA Change: R208C
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: R208C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071399 Gene: ENSMUSG00000029344 AA Change: R208C
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 |
probably benign
Transcript: ENSMUST00000198502
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
A |
G |
4: 152,284,402 (GRCm39) |
E24G |
probably benign |
Het |
Ankrd34b |
A |
G |
13: 92,575,584 (GRCm39) |
E272G |
probably damaging |
Het |
Arhgef18 |
A |
T |
8: 3,487,091 (GRCm39) |
N270I |
probably damaging |
Het |
AU040320 |
A |
G |
4: 126,763,179 (GRCm39) |
|
probably benign |
Het |
Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,510,595 (GRCm39) |
R504I |
possibly damaging |
Het |
Ckmt1 |
C |
G |
2: 121,194,060 (GRCm39) |
R408G |
probably benign |
Het |
Clba1 |
T |
C |
12: 112,774,530 (GRCm39) |
F153L |
probably damaging |
Het |
Cyp2j6 |
A |
T |
4: 96,406,266 (GRCm39) |
*502R |
probably null |
Het |
Dido1 |
A |
T |
2: 180,325,760 (GRCm39) |
V476E |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,409,185 (GRCm39) |
K398E |
probably benign |
Het |
E130308A19Rik |
A |
G |
4: 59,737,565 (GRCm39) |
Y392C |
probably damaging |
Het |
Esf1 |
T |
A |
2: 140,010,309 (GRCm39) |
D9V |
probably benign |
Het |
Fam168a |
A |
G |
7: 100,473,357 (GRCm39) |
Q82R |
probably damaging |
Het |
Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
Gm14496 |
T |
A |
2: 181,633,020 (GRCm39) |
M1K |
probably null |
Het |
Gm6665 |
A |
G |
18: 31,952,937 (GRCm39) |
M79T |
probably benign |
Het |
Gna15 |
A |
G |
10: 81,345,178 (GRCm39) |
L229P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,404,532 (GRCm39) |
T4451A |
probably damaging |
Het |
Igf2bp1 |
A |
G |
11: 95,866,122 (GRCm39) |
V122A |
probably damaging |
Het |
Ighv5-4 |
A |
T |
12: 113,561,313 (GRCm39) |
S36T |
probably damaging |
Het |
Ints3 |
A |
G |
3: 90,320,861 (GRCm39) |
V186A |
probably benign |
Het |
Jrk |
A |
G |
15: 74,578,529 (GRCm39) |
I252T |
possibly damaging |
Het |
Kcnh5 |
T |
C |
12: 75,134,365 (GRCm39) |
S395G |
probably benign |
Het |
Kcnt2 |
C |
T |
1: 140,290,718 (GRCm39) |
P103S |
probably damaging |
Het |
Klra10 |
T |
C |
6: 130,256,339 (GRCm39) |
K105R |
probably benign |
Het |
P4ha1 |
A |
T |
10: 59,186,349 (GRCm39) |
K276I |
possibly damaging |
Het |
Pcyox1 |
A |
G |
6: 86,365,910 (GRCm39) |
S435P |
possibly damaging |
Het |
Potegl |
T |
C |
2: 23,120,134 (GRCm39) |
Y235H |
possibly damaging |
Het |
Pramel26 |
A |
T |
4: 143,539,334 (GRCm39) |
M53K |
possibly damaging |
Het |
R3hdm1 |
A |
T |
1: 128,096,773 (GRCm39) |
N103I |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,302,339 (GRCm39) |
V421A |
probably damaging |
Het |
Rnpc3 |
A |
T |
3: 113,402,705 (GRCm39) |
|
probably null |
Het |
Scaf11 |
A |
G |
15: 96,318,335 (GRCm39) |
S410P |
probably benign |
Het |
Slc16a1 |
A |
G |
3: 104,560,510 (GRCm39) |
T272A |
probably benign |
Het |
Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
Slitrk3 |
T |
C |
3: 72,957,095 (GRCm39) |
D559G |
probably damaging |
Het |
Sntb2 |
G |
A |
8: 107,707,857 (GRCm39) |
G207D |
probably damaging |
Het |
Spata31f1e |
A |
G |
4: 42,793,065 (GRCm39) |
S356P |
possibly damaging |
Het |
Spdye4a |
T |
C |
5: 143,211,473 (GRCm39) |
I30M |
possibly damaging |
Het |
Thumpd1 |
A |
T |
7: 119,316,232 (GRCm39) |
V239E |
probably damaging |
Het |
Tnfsf15 |
T |
C |
4: 63,663,162 (GRCm39) |
S54G |
probably benign |
Het |
Tor1aip1 |
A |
G |
1: 155,882,951 (GRCm39) |
I299T |
probably damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,587,510 (GRCm39) |
Y285C |
probably damaging |
Het |
Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,206,959 (GRCm39) |
S1105P |
probably damaging |
Het |
|
Other mutations in Tpst2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01727:Tpst2
|
APN |
5 |
112,457,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03268:Tpst2
|
APN |
5 |
112,456,091 (GRCm39) |
missense |
probably damaging |
1.00 |
blooming
|
UTSW |
5 |
112,455,623 (GRCm39) |
missense |
probably benign |
|
feldspar
|
UTSW |
5 |
112,456,171 (GRCm39) |
nonsense |
probably null |
|
gypsum
|
UTSW |
5 |
112,455,911 (GRCm39) |
missense |
probably damaging |
1.00 |
hot_springs
|
UTSW |
5 |
112,455,544 (GRCm39) |
missense |
probably benign |
0.05 |
R1175:Tpst2
|
UTSW |
5 |
112,455,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1423:Tpst2
|
UTSW |
5 |
112,455,488 (GRCm39) |
missense |
probably benign |
0.22 |
R1537:Tpst2
|
UTSW |
5 |
112,456,286 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2013:Tpst2
|
UTSW |
5 |
112,455,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R4624:Tpst2
|
UTSW |
5 |
112,456,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R4873:Tpst2
|
UTSW |
5 |
112,457,687 (GRCm39) |
nonsense |
probably null |
|
R4875:Tpst2
|
UTSW |
5 |
112,457,687 (GRCm39) |
nonsense |
probably null |
|
R5272:Tpst2
|
UTSW |
5 |
112,455,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R6487:Tpst2
|
UTSW |
5 |
112,455,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R6605:Tpst2
|
UTSW |
5 |
112,424,600 (GRCm39) |
start gained |
probably benign |
|
R6688:Tpst2
|
UTSW |
5 |
112,455,623 (GRCm39) |
missense |
probably benign |
|
R7240:Tpst2
|
UTSW |
5 |
112,455,544 (GRCm39) |
missense |
probably benign |
0.05 |
R7625:Tpst2
|
UTSW |
5 |
112,455,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R7777:Tpst2
|
UTSW |
5 |
112,457,560 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7797:Tpst2
|
UTSW |
5 |
112,455,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8306:Tpst2
|
UTSW |
5 |
112,455,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R8486:Tpst2
|
UTSW |
5 |
112,456,171 (GRCm39) |
nonsense |
probably null |
|
R8875:Tpst2
|
UTSW |
5 |
112,457,714 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCTTCATTCTGGAGGTGATC -3'
(R):5'- TTGCCAATGAGGTCCTCGTG -3'
Sequencing Primer
(F):5'- CATTCTGGAGGTGATCGCCAAG -3'
(R):5'- TGCAGGACTGTGTCACTCCAG -3'
|
Posted On |
2017-08-16 |