Incidental Mutation 'R3961:Tpte'
| ID |
312085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpte
|
| Ensembl Gene |
ENSMUSG00000031481 |
| Gene Name |
transmembrane phosphatase with tensin homology |
| Synonyms |
Vsp, Pten2 |
| MMRRC Submission |
040836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R3961 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
22773457-22861432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22849431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 553
(S553G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077194]
[ENSMUST00000211497]
[ENSMUST00000211747]
|
| AlphaFold |
G5E8H5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077194
AA Change: S553G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: S553G
| 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: S553G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Bicral |
T |
C |
17: 47,135,751 (GRCm39) |
I486M |
probably damaging |
Het |
| Btbd1 |
C |
A |
7: 81,468,083 (GRCm39) |
E146* |
probably null |
Het |
| Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
| Cenpm |
A |
T |
15: 82,118,574 (GRCm39) |
L180Q |
possibly damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Dazl |
A |
G |
17: 50,595,161 (GRCm39) |
V91A |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,825,244 (GRCm39) |
|
probably null |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,252,613 (GRCm39) |
M419K |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,562,950 (GRCm39) |
T436M |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,880,241 (GRCm39) |
E88* |
probably null |
Het |
| Or5ak23 |
T |
C |
2: 85,245,216 (GRCm39) |
I2M |
possibly damaging |
Het |
| Pdcl |
T |
C |
2: 37,242,199 (GRCm39) |
M184V |
probably benign |
Het |
| Polr3b |
T |
C |
10: 84,520,166 (GRCm39) |
M694T |
possibly damaging |
Het |
| Pramel12 |
T |
A |
4: 143,145,888 (GRCm39) |
N452K |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,647,475 (GRCm39) |
|
probably null |
Het |
| Prss35 |
A |
G |
9: 86,637,802 (GRCm39) |
M191V |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Taf7 |
A |
G |
18: 37,776,174 (GRCm39) |
V131A |
probably benign |
Het |
| Tesk1 |
A |
G |
4: 43,445,133 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,031 (GRCm39) |
D741N |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Trpv3 |
A |
T |
11: 73,178,246 (GRCm39) |
K438* |
probably null |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,717 (GRCm39) |
G757R |
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 |
|
|
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 |
|
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'- GCCCGCAAAATCAAGCTTTTG -3'
(R):5'- CATCTCTTTGTGGCTTAGTGAAC -3'
Sequencing Primer
(F):5'- CCGCAAAATCAAGCTTTTGAAGTC -3'
(R):5'- ATTGACCAAGTGCCTATCGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation