Incidental Mutation 'R6688:Tpst2'
| ID |
527855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpst2
|
| Ensembl Gene |
ENSMUSG00000029344 |
| Gene Name |
protein-tyrosine sulfotransferase 2 |
| Synonyms |
D5Ucla3, grt, grm, Tango13b |
| MMRRC Submission |
044806-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
R6688 (G1)
|
| Quality Score |
169.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
112424557-112463227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112455623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 54
(N54S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031287]
[ENSMUST00000071455]
[ENSMUST00000151947]
|
| AlphaFold |
O88856 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031287
AA Change: N54S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031287
Gene: ENSMUSG00000029344
AA Change: N54S
| 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
AA Change: N54S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071399
Gene: ENSMUSG00000029344
AA Change: N54S
| 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 |
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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1 |
A |
T |
13: 45,721,147 (GRCm39) |
H249Q |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,572,389 (GRCm39) |
S362A |
possibly damaging |
Het |
| Cep120 |
G |
A |
18: 53,857,608 (GRCm39) |
P286S |
probably benign |
Het |
| Ces1g |
G |
A |
8: 94,033,600 (GRCm39) |
P441S |
possibly damaging |
Het |
| Ces2h |
A |
G |
8: 105,744,472 (GRCm39) |
I316V |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,600,899 (GRCm39) |
D747E |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,015 (GRCm39) |
V572A |
probably benign |
Het |
| Cyb5rl |
C |
T |
4: 106,931,102 (GRCm39) |
A128V |
probably damaging |
Het |
| Dnttip1 |
T |
C |
2: 164,607,081 (GRCm39) |
Y241H |
probably damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,343,278 (GRCm39) |
T11A |
possibly damaging |
Het |
| Ip6k2 |
C |
A |
9: 108,683,210 (GRCm39) |
T440K |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,578,749 (GRCm39) |
N126D |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,774,041 (GRCm39) |
F5551I |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,023,417 (GRCm39) |
L1587P |
probably damaging |
Het |
| Nherf4 |
C |
T |
9: 44,159,527 (GRCm39) |
|
probably null |
Het |
| Nop53 |
A |
G |
7: 15,679,779 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,949,135 (GRCm39) |
T1045A |
probably benign |
Het |
| Plg |
A |
T |
17: 12,610,732 (GRCm39) |
H215L |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rapgef2 |
T |
A |
3: 78,976,435 (GRCm39) |
Q1307L |
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,166,870 (GRCm39) |
E129G |
possibly damaging |
Het |
| Stx1b |
C |
T |
7: 127,407,068 (GRCm39) |
R209Q |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,738,736 (GRCm39) |
I905T |
possibly damaging |
Het |
| Tmem252 |
G |
A |
19: 24,651,463 (GRCm39) |
A11T |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,277,553 (GRCm39) |
S269G |
probably benign |
Het |
| Wasf1 |
T |
C |
10: 40,802,616 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,544,249 (GRCm39) |
V58D |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,940 (GRCm39) |
T322A |
possibly 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 |
|
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 |
|
R6605:Tpst2
|
UTSW |
5 |
112,424,600 (GRCm39) |
start gained |
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'- CCACAGATGTATACCAGGTGGG -3'
(R):5'- CAGAATGAAGGCCTGCATGG -3'
Sequencing Primer
(F):5'- AGGTGGGCCTGCTGACC -3'
(R):5'- AGCTTCTCACGGCCAGACTTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation