Incidental Mutation 'R6596:Tpte'
| ID |
525973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpte
|
| Ensembl Gene |
ENSMUSG00000031481 |
| Gene Name |
transmembrane phosphatase with tensin homology |
| Synonyms |
Vsp, Pten2 |
| MMRRC Submission |
044720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6596 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
22773457-22861432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22823285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 304
(L304P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077194]
[ENSMUST00000211497]
[ENSMUST00000211747]
|
| AlphaFold |
G5E8H5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077194
AA Change: L304P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: L304P
| 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 damaging
Transcript: ENSMUST00000211747
AA Change: L304P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
T |
A |
9: 101,819,984 (GRCm39) |
C135S |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Cldn15 |
T |
A |
5: 137,003,533 (GRCm39) |
C178* |
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,783,409 (GRCm39) |
|
probably benign |
Het |
| Crnn |
G |
A |
3: 93,054,182 (GRCm39) |
E22K |
probably damaging |
Het |
| Dcstamp |
A |
C |
15: 39,617,605 (GRCm39) |
T5P |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,759,702 (GRCm39) |
Y269C |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,403,581 (GRCm39) |
|
probably null |
Het |
| Duox2 |
C |
T |
2: 122,115,819 (GRCm39) |
V972I |
probably benign |
Het |
| Eif1ad15 |
C |
A |
12: 88,288,057 (GRCm39) |
L65F |
possibly damaging |
Het |
| Ephb1 |
A |
C |
9: 102,072,001 (GRCm39) |
Y259* |
probably null |
Het |
| Fam149a |
G |
T |
8: 45,834,667 (GRCm39) |
T44K |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,648,641 (GRCm39) |
Y1423H |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
| Gfm2 |
C |
T |
13: 97,301,657 (GRCm39) |
P487S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,052 (GRCm39) |
E625G |
probably benign |
Het |
| Kmt5a |
G |
A |
5: 124,588,759 (GRCm39) |
V121M |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,201,001 (GRCm39) |
S229P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,478,011 (GRCm39) |
D7098G |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,801,283 (GRCm39) |
I244N |
probably damaging |
Het |
| Obox1 |
C |
T |
7: 15,289,301 (GRCm39) |
S72L |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,979,622 (GRCm39) |
T243S |
possibly damaging |
Het |
| Or5d38 |
C |
T |
2: 87,954,543 (GRCm39) |
C262Y |
probably damaging |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,414 (GRCm39) |
I517F |
probably damaging |
Het |
| Plk2 |
C |
T |
13: 110,534,296 (GRCm39) |
A292V |
probably benign |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,894,847 (GRCm39) |
N1089I |
possibly damaging |
Het |
| Robo2 |
T |
A |
16: 73,767,996 (GRCm39) |
N603Y |
probably damaging |
Het |
| Slc35f4 |
G |
A |
14: 49,763,057 (GRCm39) |
A5V |
probably damaging |
Het |
| Smc4 |
A |
T |
3: 68,933,226 (GRCm39) |
I616F |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,912,899 (GRCm39) |
N1361H |
possibly damaging |
Het |
| Syngr1 |
C |
T |
15: 79,995,893 (GRCm39) |
T144M |
probably damaging |
Het |
| Tbc1d16 |
A |
C |
11: 119,048,601 (GRCm39) |
W351G |
probably damaging |
Het |
| Tbx15 |
A |
G |
3: 99,259,508 (GRCm39) |
S460G |
probably benign |
Het |
| Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,456,382 (GRCm39) |
F325I |
probably benign |
Het |
| Ucp3 |
A |
T |
7: 100,131,140 (GRCm39) |
I198F |
probably benign |
Het |
| Vit |
T |
C |
17: 78,930,274 (GRCm39) |
V413A |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,907,155 (GRCm39) |
M1T |
probably null |
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 |
|
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 |
|
|
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'- ATAGCACACATAATTCTCCATGGG -3'
(R):5'- GCATTGCACTTTTAAACCACTTACC -3'
Sequencing Primer
(F):5'- TAATTCTCCATGGGACTAGAGTAGG -3'
(R):5'- CCAGGTATATAACCAGAGAGT -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation