Incidental Mutation 'R6605:Tpst2'
| ID |
525577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpst2
|
| Ensembl Gene |
ENSMUSG00000029344 |
| Gene Name |
protein-tyrosine sulfotransferase 2 |
| Synonyms |
D5Ucla3, grt, grm, Tango13b |
| MMRRC Submission |
044728-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
R6605 (G1)
|
| Quality Score |
84.5134 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
112424557-112463227 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to T
at 112424600 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031287]
[ENSMUST00000071455]
|
| AlphaFold |
O88856 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031287
|
| SMART Domains |
Protein: ENSMUSP00000031287
Gene: ENSMUSG00000029344
| 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 benign
Transcript: ENSMUST00000071455
|
| SMART Domains |
Protein: ENSMUSP00000071399
Gene: ENSMUSG00000029344
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
92% (35/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
A |
7: 45,630,481 (GRCm39) |
I1260F |
probably damaging |
Het |
| Acat2 |
A |
G |
17: 13,162,774 (GRCm39) |
V358A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,636,081 (GRCm39) |
A3476V |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,229,516 (GRCm39) |
N150D |
probably damaging |
Het |
| Asb2 |
G |
T |
12: 103,311,943 (GRCm39) |
Q60K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,134 (GRCm39) |
R708* |
probably null |
Het |
| Cd79b |
C |
T |
11: 106,203,539 (GRCm39) |
G116D |
probably damaging |
Het |
| Copg2 |
A |
G |
6: 30,835,757 (GRCm39) |
F218S |
probably benign |
Het |
| Defa5 |
A |
C |
8: 21,787,604 (GRCm39) |
E50D |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,890,107 (GRCm39) |
|
probably null |
Het |
| Eva1c |
T |
A |
16: 90,663,236 (GRCm39) |
V91D |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,043,283 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gm5141 |
G |
A |
13: 62,922,201 (GRCm39) |
H323Y |
probably damaging |
Het |
| Gpr19 |
T |
C |
6: 134,847,398 (GRCm39) |
N58S |
probably benign |
Het |
| Gpr26 |
G |
A |
7: 131,585,893 (GRCm39) |
A288T |
possibly damaging |
Het |
| Gucy2g |
T |
A |
19: 55,229,460 (GRCm39) |
Q70L |
probably damaging |
Het |
| Ifit2 |
C |
T |
19: 34,550,897 (GRCm39) |
R146* |
probably null |
Het |
| Lgr5 |
A |
C |
10: 115,293,772 (GRCm39) |
N408K |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,132,692 (GRCm39) |
Y191* |
probably null |
Het |
| Npr3 |
C |
G |
15: 11,905,518 (GRCm39) |
A70P |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,541 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,265,032 (GRCm39) |
|
probably null |
Het |
| Pnlip |
A |
T |
19: 58,660,174 (GRCm39) |
D29V |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,088,567 (GRCm39) |
F277I |
possibly damaging |
Het |
| Pou2f2 |
A |
C |
7: 24,793,006 (GRCm39) |
V441G |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,740,002 (GRCm39) |
V459A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,729,195 (GRCm39) |
V855E |
probably damaging |
Het |
| Rflna |
A |
G |
5: 125,088,352 (GRCm39) |
T100A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,131,871 (GRCm39) |
S380T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Taar8a |
A |
T |
10: 23,952,674 (GRCm39) |
I93F |
possibly damaging |
Het |
| Taok2 |
T |
A |
7: 126,477,930 (GRCm39) |
D207V |
probably damaging |
Het |
| Trdv2-1 |
A |
G |
14: 54,183,999 (GRCm39) |
N77S |
possibly damaging |
Het |
| Wdr17 |
A |
C |
8: 55,134,559 (GRCm39) |
V18G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,261 (GRCm39) |
V402A |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,547 (GRCm39) |
E99G |
possibly damaging |
Het |
| Zw10 |
A |
G |
9: 48,980,926 (GRCm39) |
D442G |
probably benign |
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 |
|
R6123:Tpst2
|
UTSW |
5 |
112,456,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6487:Tpst2
|
UTSW |
5 |
112,455,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2018-06-22 |
Incidental Mutation