Incidental Mutation 'R6544:Tpte'
ID |
521021 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpte
|
Ensembl Gene |
ENSMUSG00000031481 |
Gene Name |
transmembrane phosphatase with tensin homology |
Synonyms |
Vsp, Pten2 |
MMRRC Submission |
044670-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6544 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
22773457-22861432 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 22805121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077194]
[ENSMUST00000211497]
[ENSMUST00000211747]
|
AlphaFold |
G5E8H5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000077194
|
SMART Domains |
Protein: ENSMUSP00000076435 Gene: ENSMUSG00000031481
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (48/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005K14Rik |
T |
A |
1: 83,036,678 (GRCm39) |
K118* |
probably null |
Het |
Actr2 |
A |
G |
11: 20,050,933 (GRCm39) |
F17L |
probably damaging |
Het |
Adam26b |
T |
C |
8: 43,974,818 (GRCm39) |
I61M |
probably damaging |
Het |
Ahcyl |
A |
C |
16: 45,975,147 (GRCm39) |
S77A |
probably benign |
Het |
Ahnak2 |
A |
G |
12: 112,746,829 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
T |
C |
4: 98,919,675 (GRCm39) |
L145P |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,726,871 (GRCm39) |
T808A |
probably damaging |
Het |
Ark2c |
T |
A |
18: 77,650,931 (GRCm39) |
|
probably benign |
Het |
Cadm3 |
A |
G |
1: 173,194,977 (GRCm39) |
|
probably null |
Het |
Cog7 |
C |
T |
7: 121,534,966 (GRCm39) |
R573Q |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,407,385 (GRCm39) |
I2110F |
probably damaging |
Het |
Fbxo47 |
G |
A |
11: 97,747,089 (GRCm39) |
R326C |
probably damaging |
Het |
Frmpd1 |
A |
T |
4: 45,279,024 (GRCm39) |
D583V |
probably damaging |
Het |
Gigyf1 |
T |
A |
5: 137,523,321 (GRCm39) |
L911Q |
probably damaging |
Het |
Gprin1 |
G |
A |
13: 54,888,124 (GRCm39) |
A50V |
possibly damaging |
Het |
Grik4 |
A |
T |
9: 42,459,024 (GRCm39) |
Y571* |
probably null |
Het |
Gucy2e |
A |
G |
11: 69,126,483 (GRCm39) |
V299A |
probably benign |
Het |
Hectd2 |
C |
T |
19: 36,589,728 (GRCm39) |
L618F |
probably damaging |
Het |
Lactbl1 |
A |
T |
4: 136,360,300 (GRCm39) |
I160F |
possibly damaging |
Het |
Lats1 |
T |
A |
10: 7,577,434 (GRCm39) |
V186D |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,110,624 (GRCm39) |
H448R |
possibly damaging |
Het |
Map10 |
T |
C |
8: 126,398,113 (GRCm39) |
I502T |
probably benign |
Het |
Mok |
A |
G |
12: 110,777,189 (GRCm39) |
F239S |
probably damaging |
Het |
Mprip |
G |
A |
11: 59,648,552 (GRCm39) |
G752D |
probably benign |
Het |
Naip5 |
C |
A |
13: 100,359,652 (GRCm39) |
G528V |
possibly damaging |
Het |
Neu2 |
T |
C |
1: 87,524,464 (GRCm39) |
W150R |
probably damaging |
Het |
Or1ak2 |
T |
A |
2: 36,827,539 (GRCm39) |
M136K |
possibly damaging |
Het |
Or5an1 |
T |
C |
19: 12,260,519 (GRCm39) |
Y36H |
probably damaging |
Het |
Or5as1 |
T |
A |
2: 86,980,207 (GRCm39) |
Y266F |
probably damaging |
Het |
Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
Pip5k1c |
T |
A |
10: 81,144,830 (GRCm39) |
Y224N |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,758,399 (GRCm39) |
E5G |
probably damaging |
Het |
Pspc1 |
T |
C |
14: 57,001,660 (GRCm39) |
*59W |
probably null |
Het |
Ptprq |
T |
C |
10: 107,444,102 (GRCm39) |
T1501A |
probably damaging |
Het |
Rorb |
G |
T |
19: 18,929,614 (GRCm39) |
P304T |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,514,444 (GRCm39) |
L1110Q |
probably damaging |
Het |
Serpine2 |
C |
T |
1: 79,780,847 (GRCm39) |
|
probably null |
Het |
Slco1c1 |
A |
G |
6: 141,477,170 (GRCm39) |
|
probably null |
Het |
Smarca2 |
T |
A |
19: 26,608,331 (GRCm39) |
V130D |
probably damaging |
Het |
Sox17 |
G |
T |
1: 4,562,655 (GRCm39) |
P117T |
possibly damaging |
Het |
Sparcl1 |
A |
T |
5: 104,240,310 (GRCm39) |
Y371* |
probably null |
Het |
Tdpoz2 |
T |
C |
3: 93,559,267 (GRCm39) |
D235G |
possibly damaging |
Het |
Tns2 |
A |
C |
15: 102,022,269 (GRCm39) |
K1182N |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,799,503 (GRCm39) |
I459K |
possibly damaging |
Het |
Wdr97 |
T |
C |
15: 76,242,478 (GRCm39) |
Y823H |
probably benign |
Het |
Zc3h15 |
G |
A |
2: 83,491,492 (GRCm39) |
R240H |
probably benign |
Het |
Zfp455 |
C |
A |
13: 67,355,121 (GRCm39) |
L130I |
probably benign |
Het |
Zfp777 |
A |
T |
6: 48,021,419 (GRCm39) |
S68T |
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 |
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 |
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'- GTGTGCAAATGTTAGCCAGTC -3'
(R):5'- GACCATGTCTACAATTCTCCACG -3'
Sequencing Primer
(F):5'- GTGTGCAAATGTTAGCCAGTCTATAG -3'
(R):5'- GCCCCTGTGTATAAGGTTACATCTG -3'
|
Posted On |
2018-06-06 |