Incidental Mutation 'IGL01947:Tpte'
| ID |
181265 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tpte
|
| Ensembl Gene |
ENSMUSG00000031481 |
| Gene Name |
transmembrane phosphatase with tensin homology |
| Synonyms |
Vsp, Pten2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL01947
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
22773457-22861432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22845489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 513
(Y513F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077194]
[ENSMUST00000211497]
[ENSMUST00000211747]
|
| AlphaFold |
G5E8H5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077194
AA Change: Y513F
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: Y513F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
146 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
212 |
231 |
N/A |
INTRINSIC |
|
transmembrane domain
|
246 |
265 |
N/A |
INTRINSIC |
|
transmembrane domain
|
277 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
329 |
N/A |
INTRINSIC |
|
Pfam:Y_phosphatase
|
369 |
511 |
1.4e-6 |
PFAM |
|
Pfam:DSPc
|
384 |
505 |
7.3e-8 |
PFAM |
|
PTEN_C2
|
529 |
663 |
3.72e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211497
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211747
AA Change: Y513F
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,428 (GRCm39) |
|
probably null |
Het |
| Aloxe3 |
T |
A |
11: 69,033,847 (GRCm39) |
|
probably benign |
Het |
| Atic |
C |
T |
1: 71,609,996 (GRCm39) |
|
probably benign |
Het |
| Avpr1a |
T |
C |
10: 122,288,087 (GRCm39) |
V365A |
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,059,503 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,845,579 (GRCm39) |
N332D |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,921,649 (GRCm39) |
P649S |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,632,326 (GRCm39) |
T342A |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,904,646 (GRCm39) |
L349P |
probably damaging |
Het |
| Cox6b2 |
T |
A |
7: 4,754,929 (GRCm39) |
K77* |
probably null |
Het |
| Crnkl1 |
G |
A |
2: 145,763,744 (GRCm39) |
A498V |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,303,979 (GRCm39) |
L1394P |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,641,404 (GRCm39) |
Y197C |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,280 (GRCm39) |
I164T |
probably benign |
Het |
| Disp3 |
T |
A |
4: 148,344,976 (GRCm39) |
I472F |
probably damaging |
Het |
| Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gpd1 |
A |
G |
15: 99,618,112 (GRCm39) |
I143V |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,608,643 (GRCm39) |
N1513I |
possibly damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,680,159 (GRCm39) |
I733V |
probably benign |
Het |
| Klhl12 |
T |
A |
1: 134,391,689 (GRCm39) |
L107H |
probably damaging |
Het |
| Lcn8 |
A |
G |
2: 25,545,157 (GRCm39) |
D109G |
probably damaging |
Het |
| Maz |
A |
T |
7: 126,623,614 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
A |
3: 137,812,890 (GRCm39) |
D595V |
probably damaging |
Het |
| Mymk |
A |
C |
2: 26,956,406 (GRCm39) |
L58R |
possibly damaging |
Het |
| Nckap1 |
A |
C |
2: 80,339,097 (GRCm39) |
I977S |
probably damaging |
Het |
| Nckap1l |
A |
T |
15: 103,399,442 (GRCm39) |
I1021F |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,556 (GRCm39) |
C240S |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,775,339 (GRCm39) |
M154K |
probably benign |
Het |
| Or4f6 |
A |
T |
2: 111,839,361 (GRCm39) |
S57T |
possibly damaging |
Het |
| Or6c38 |
G |
A |
10: 128,929,747 (GRCm39) |
T32I |
possibly damaging |
Het |
| Pde5a |
T |
A |
3: 122,629,259 (GRCm39) |
F644L |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,592,440 (GRCm39) |
I68T |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,563,349 (GRCm39) |
V1242D |
possibly damaging |
Het |
| Ppp6r2 |
G |
T |
15: 89,162,929 (GRCm39) |
W517L |
probably damaging |
Het |
| Scrib |
A |
T |
15: 75,933,616 (GRCm39) |
I703K |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,695,576 (GRCm39) |
S322G |
probably benign |
Het |
| Siglecg |
C |
A |
7: 43,058,187 (GRCm39) |
Q25K |
probably benign |
Het |
| Slc12a3 |
G |
A |
8: 95,092,447 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
G |
T |
6: 121,302,116 (GRCm39) |
|
probably null |
Het |
| Stard13 |
A |
T |
5: 150,986,309 (GRCm39) |
D282E |
probably damaging |
Het |
| Ubox5 |
T |
A |
2: 130,442,579 (GRCm39) |
K36I |
possibly damaging |
Het |
|
| Other mutations in Tpte |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Tpte
|
APN |
8 |
22,810,898 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01456:Tpte
|
APN |
8 |
22,835,068 (GRCm39) |
splice site |
probably benign |
|
|
IGL01975:Tpte
|
APN |
8 |
22,839,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02458:Tpte
|
APN |
8 |
22,795,874 (GRCm39) |
missense |
probably benign |
|
|
IGL03411:Tpte
|
APN |
8 |
22,815,553 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0158:Tpte
|
UTSW |
8 |
22,817,755 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0396:Tpte
|
UTSW |
8 |
22,825,624 (GRCm39) |
splice site |
probably benign |
|
|
R0611:Tpte
|
UTSW |
8 |
22,826,549 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1481:Tpte
|
UTSW |
8 |
22,845,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1489:Tpte
|
UTSW |
8 |
22,839,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1569:Tpte
|
UTSW |
8 |
22,835,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1632:Tpte
|
UTSW |
8 |
22,839,363 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1639:Tpte
|
UTSW |
8 |
22,810,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2030:Tpte
|
UTSW |
8 |
22,835,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Tpte
|
UTSW |
8 |
22,808,355 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2519:Tpte
|
UTSW |
8 |
22,823,176 (GRCm39) |
splice site |
probably benign |
|
|
R2655:Tpte
|
UTSW |
8 |
22,801,294 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2884:Tpte
|
UTSW |
8 |
22,825,439 (GRCm39) |
nonsense |
probably null |
|
|
R3033:Tpte
|
UTSW |
8 |
22,810,888 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3734:Tpte
|
UTSW |
8 |
22,849,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3961:Tpte
|
UTSW |
8 |
22,849,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4050:Tpte
|
UTSW |
8 |
22,856,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4591:Tpte
|
UTSW |
8 |
22,817,791 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4994:Tpte
|
UTSW |
8 |
22,808,362 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5321:Tpte
|
UTSW |
8 |
22,787,219 (GRCm39) |
nonsense |
probably null |
|
|
R5394:Tpte
|
UTSW |
8 |
22,817,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Tpte
|
UTSW |
8 |
22,774,983 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5590:Tpte
|
UTSW |
8 |
22,841,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Tpte
|
UTSW |
8 |
22,817,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6544:Tpte
|
UTSW |
8 |
22,805,121 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6596:Tpte
|
UTSW |
8 |
22,823,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6729:Tpte
|
UTSW |
8 |
22,845,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Tpte
|
UTSW |
8 |
22,817,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Tpte
|
UTSW |
8 |
22,815,563 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7575:Tpte
|
UTSW |
8 |
22,845,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9099:Tpte
|
UTSW |
8 |
22,845,497 (GRCm39) |
missense |
|
|
|
R9248:Tpte
|
UTSW |
8 |
22,841,489 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9393:Tpte
|
UTSW |
8 |
22,774,990 (GRCm39) |
missense |
probably benign |
|
|
R9682:Tpte
|
UTSW |
8 |
22,841,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF006:Tpte
|
UTSW |
8 |
22,796,959 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Tpte
|
UTSW |
8 |
22,823,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation