Incidental Mutation 'R3033:Tpte'
ID |
263345 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpte
|
Ensembl Gene |
ENSMUSG00000031481 |
Gene Name |
transmembrane phosphatase with tensin homology |
Synonyms |
Vsp, Pten2 |
MMRRC Submission |
040549-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R3033 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
22773457-22861432 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 22810888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 182
(S182T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077194]
[ENSMUST00000211497]
[ENSMUST00000211747]
|
AlphaFold |
G5E8H5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077194
AA Change: S182T
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000076435 Gene: ENSMUSG00000031481 AA Change: S182T
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 |
probably benign
Transcript: ENSMUST00000211747
AA Change: S182T
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,184,227 (GRCm39) |
D591G |
probably benign |
Het |
Aqp4 |
T |
A |
18: 15,526,617 (GRCm39) |
E288V |
possibly damaging |
Het |
Astn2 |
T |
C |
4: 65,562,943 (GRCm39) |
Y894C |
probably damaging |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Dennd4c |
AGGAGCTCCTGGAGC |
AGGAGC |
4: 86,743,557 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,150,333 (GRCm39) |
D810G |
probably benign |
Het |
Dst |
T |
C |
1: 34,191,366 (GRCm39) |
I222T |
probably damaging |
Het |
Eif4g3 |
A |
T |
4: 137,830,721 (GRCm39) |
T159S |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,219,734 (GRCm39) |
E1002G |
possibly damaging |
Het |
Gm5414 |
T |
C |
15: 101,533,044 (GRCm39) |
E461G |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 51,997,821 (GRCm39) |
C359* |
probably null |
Het |
Ift88 |
G |
A |
14: 57,715,501 (GRCm39) |
D515N |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,733,160 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
T |
C |
11: 58,275,453 (GRCm39) |
Y63H |
probably damaging |
Het |
Mcm3 |
A |
T |
1: 20,878,992 (GRCm39) |
Y594N |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,568,966 (GRCm39) |
M322V |
probably benign |
Het |
Neurl2 |
T |
C |
2: 164,674,975 (GRCm39) |
E129G |
probably benign |
Het |
Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rapgef2 |
A |
G |
3: 78,981,613 (GRCm39) |
|
probably null |
Het |
Selenbp1 |
T |
C |
3: 94,845,351 (GRCm39) |
V149A |
probably benign |
Het |
Smg9 |
A |
G |
7: 24,115,949 (GRCm39) |
D280G |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 65,082,912 (GRCm39) |
D555G |
probably damaging |
Het |
Tomm70a |
G |
A |
16: 56,942,388 (GRCm39) |
G55D |
probably damaging |
Het |
Zfp58 |
T |
C |
13: 67,639,741 (GRCm39) |
E250G |
probably 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 |
|
IGL01947:Tpte
|
APN |
8 |
22,845,489 (GRCm39) |
missense |
possibly damaging |
0.88 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCGGGGAAAGAGTTTTCTG -3'
(R):5'- CCAGTATAGGGGAATTCCAGGACC -3'
Sequencing Primer
(F):5'- CCGGGGAAAGAGTTTTCTGAAAAATG -3'
(R):5'- TTCCAGGACCAGGAAGCAG -3'
|
Posted On |
2015-02-05 |