Incidental Mutation 'R5321:Tpte'
| ID |
406111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpte
|
| Ensembl Gene |
ENSMUSG00000031481 |
| Gene Name |
transmembrane phosphatase with tensin homology |
| Synonyms |
Vsp, Pten2 |
| MMRRC Submission |
042904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5321 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
22773457-22861432 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 22787219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 33
(R33*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077194]
[ENSMUST00000211497]
[ENSMUST00000211747]
|
| AlphaFold |
G5E8H5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077194
AA Change: R33*
|
| SMART Domains |
Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: R33*
| 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 null
Transcript: ENSMUST00000211497
AA Change: R33*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211747
AA Change: R33*
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,218,651 (GRCm39) |
F72L |
probably benign |
Het |
| Btrc |
G |
A |
19: 45,496,197 (GRCm39) |
V211M |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,664 (GRCm39) |
Y1081N |
unknown |
Het |
| Cryzl1 |
T |
C |
16: 91,504,118 (GRCm39) |
Y109C |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,941,669 (GRCm39) |
S352T |
probably benign |
Het |
| Dzip3 |
T |
G |
16: 48,778,038 (GRCm39) |
T349P |
possibly damaging |
Het |
| Endou |
A |
G |
15: 97,618,913 (GRCm39) |
V37A |
probably damaging |
Het |
| Exosc1 |
A |
T |
19: 41,912,499 (GRCm39) |
C129* |
probably null |
Het |
| Flywch1 |
C |
G |
17: 23,975,625 (GRCm39) |
R539P |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,298 (GRCm39) |
T322I |
probably damaging |
Het |
| Lcor |
G |
T |
19: 41,573,643 (GRCm39) |
W799C |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,553,853 (GRCm39) |
V857M |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,389,862 (GRCm39) |
N195S |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,898,785 (GRCm39) |
Q160R |
probably damaging |
Het |
| Phtf1 |
C |
T |
3: 103,910,827 (GRCm39) |
T606I |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Scrt1 |
T |
C |
15: 76,403,370 (GRCm39) |
S207G |
unknown |
Het |
| Slc15a5 |
G |
T |
6: 137,964,436 (GRCm39) |
N496K |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 23,996,614 (GRCm39) |
I40F |
possibly damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,177,519 (GRCm39) |
V945G |
probably damaging |
Het |
| Tdrkh |
C |
A |
3: 94,332,965 (GRCm39) |
L169I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,865 (GRCm39) |
C35R |
probably damaging |
Het |
| Trpv2 |
T |
A |
11: 62,475,397 (GRCm39) |
L270H |
probably damaging |
Het |
| Utp18 |
A |
G |
11: 93,757,260 (GRCm39) |
L468P |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,844,805 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,427 (GRCm39) |
S251L |
probably benign |
Het |
| Vmn1r24 |
A |
T |
6: 57,933,182 (GRCm39) |
L112* |
probably null |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,592 (GRCm39) |
L89P |
probably damaging |
Het |
| Vmn2r10 |
G |
T |
5: 109,143,505 (GRCm39) |
A815E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,595 (GRCm39) |
L416H |
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 |
|
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'- GCTACAGGGCTCTCGATTTTG -3'
(R):5'- TTCTGAGACAGGGCCAGATG -3'
Sequencing Primer
(F):5'- ACAGGGCTCTCGATTTTGAATTC -3'
(R):5'- AAATTTCCCCCTGGTGATGAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation