Incidental Mutation 'IGL00930:Tpst1'
| ID |
27439 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tpst1
|
| Ensembl Gene |
ENSMUSG00000034118 |
| Gene Name |
protein-tyrosine sulfotransferase 1 |
| Synonyms |
Tango13a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
IGL00930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
130102167-130164570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130130975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 148
(K148N)
|
| 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: K148N
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000035614
Gene: ENSMUSG00000034118
AA Change: K148N
| 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: K148N
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112571
Gene: ENSMUSG00000034118
AA Change: K148N
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
C |
7: 119,191,533 (GRCm39) |
S534P |
possibly damaging |
Het |
| Adamts15 |
G |
A |
9: 30,813,349 (GRCm39) |
P939S |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,578,292 (GRCm39) |
S207P |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,805,181 (GRCm39) |
K747E |
probably damaging |
Het |
| Dock5 |
G |
T |
14: 68,008,526 (GRCm39) |
N1457K |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,479,479 (GRCm39) |
E323G |
possibly damaging |
Het |
| Epc1 |
T |
A |
18: 6,449,196 (GRCm39) |
M434L |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,100 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,383 (GRCm39) |
C284* |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,471 (GRCm39) |
S67P |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,466,530 (GRCm39) |
E1450K |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,009 (GRCm39) |
H420L |
probably benign |
Het |
| Pitpnm2 |
A |
G |
5: 124,259,726 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,273,219 (GRCm39) |
|
probably benign |
Het |
| Prmt3 |
T |
A |
7: 49,441,757 (GRCm39) |
Y245N |
probably damaging |
Het |
| Rpl10a |
T |
C |
17: 28,547,981 (GRCm39) |
Y41H |
probably damaging |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,029 (GRCm39) |
T108A |
possibly damaging |
Het |
| Wdr7 |
T |
A |
18: 63,873,315 (GRCm39) |
C525* |
probably null |
Het |
| Zfp646 |
A |
G |
7: 127,478,302 (GRCm39) |
T160A |
possibly damaging |
Het |
|
| Other mutations in Tpst1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R4394:Tpst1
|
UTSW |
5 |
130,131,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation