Incidental Mutation 'R9248:Tpte'
ID |
701361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpte
|
Ensembl Gene |
ENSMUSG00000031481 |
Gene Name |
transmembrane phosphatase with tensin homology |
Synonyms |
Vsp, Pten2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R9248 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
22773457-22861432 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22841489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 494
(T494A)
|
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: T494A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000076435 Gene: ENSMUSG00000031481 AA Change: T494A
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: T494A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
T |
C |
9: 118,983,002 (GRCm39) |
N132S |
probably benign |
Het |
Agpat2 |
A |
G |
2: 26,483,601 (GRCm39) |
*279Q |
probably null |
Het |
Akr1c19 |
C |
A |
13: 4,292,974 (GRCm39) |
D243E |
probably benign |
Het |
Alg2 |
A |
G |
4: 47,474,001 (GRCm39) |
F96L |
probably benign |
Het |
Apob |
C |
T |
12: 8,065,231 (GRCm39) |
Q4067* |
probably null |
Het |
C1ra |
A |
T |
6: 124,489,580 (GRCm39) |
|
probably benign |
Het |
C8a |
T |
C |
4: 104,703,199 (GRCm39) |
Y330C |
probably damaging |
Het |
Ccdc185 |
A |
G |
1: 182,576,221 (GRCm39) |
V156A |
probably benign |
Het |
Ces1g |
A |
G |
8: 94,060,319 (GRCm39) |
L100P |
possibly damaging |
Het |
Cnbd1 |
T |
C |
4: 18,862,113 (GRCm39) |
N359S |
possibly damaging |
Het |
Crybb2 |
C |
T |
5: 113,211,094 (GRCm39) |
A65T |
probably benign |
Het |
Dcaf5 |
T |
C |
12: 80,386,563 (GRCm39) |
D521G |
probably benign |
Het |
Dnmt1 |
A |
G |
9: 20,833,408 (GRCm39) |
F631L |
possibly damaging |
Het |
Dok1 |
T |
A |
6: 83,008,893 (GRCm39) |
D263V |
possibly damaging |
Het |
Ecel1 |
A |
G |
1: 87,081,112 (GRCm39) |
F293L |
probably benign |
Het |
Ehmt1 |
A |
T |
2: 24,738,077 (GRCm39) |
L509Q |
possibly damaging |
Het |
Fbln2 |
T |
A |
6: 91,231,556 (GRCm39) |
V551E |
possibly damaging |
Het |
Fig4 |
C |
T |
10: 41,153,478 (GRCm39) |
V108I |
probably benign |
Het |
Gpa33 |
A |
G |
1: 165,991,396 (GRCm39) |
Y209C |
probably damaging |
Het |
Heatr5a |
T |
C |
12: 51,963,026 (GRCm39) |
H52R |
|
Het |
Heatr9 |
A |
T |
11: 83,409,281 (GRCm39) |
D157E |
possibly damaging |
Het |
Jakmip2 |
A |
C |
18: 43,685,242 (GRCm39) |
M682R |
probably benign |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Layn |
A |
G |
9: 50,968,760 (GRCm39) |
S328P |
possibly damaging |
Het |
Mblac2 |
A |
G |
13: 81,859,769 (GRCm39) |
D41G |
probably damaging |
Het |
Mboat1 |
A |
G |
13: 30,410,392 (GRCm39) |
Y283C |
probably damaging |
Het |
Mdga2 |
A |
G |
12: 66,736,226 (GRCm39) |
V334A |
possibly damaging |
Het |
Mroh4 |
C |
T |
15: 74,485,167 (GRCm39) |
R515H |
possibly damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Nsrp1 |
G |
A |
11: 76,937,036 (GRCm39) |
R387W |
probably benign |
Het |
Or5p59 |
T |
C |
7: 107,703,256 (GRCm39) |
S247P |
probably damaging |
Het |
Or8c16 |
T |
C |
9: 38,130,706 (GRCm39) |
Y193H |
probably benign |
Het |
Ostm1 |
T |
C |
10: 42,574,210 (GRCm39) |
V301A |
probably damaging |
Het |
Pcdhb13 |
A |
T |
18: 37,577,608 (GRCm39) |
D662V |
probably damaging |
Het |
Pfpl |
T |
A |
19: 12,406,374 (GRCm39) |
S208R |
probably damaging |
Het |
Plin5 |
A |
T |
17: 56,419,324 (GRCm39) |
V366E |
probably damaging |
Het |
Rmi1 |
A |
G |
13: 58,556,899 (GRCm39) |
I383V |
probably benign |
Het |
Rnh1 |
T |
C |
7: 140,740,714 (GRCm39) |
T414A |
probably benign |
Het |
Sash1 |
C |
A |
10: 8,617,296 (GRCm39) |
G537W |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,370,551 (GRCm39) |
N264S |
probably benign |
Het |
Speg |
A |
C |
1: 75,398,420 (GRCm39) |
T1956P |
probably damaging |
Het |
St14 |
T |
C |
9: 31,002,905 (GRCm39) |
Y666C |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,727,481 (GRCm39) |
H1448L |
probably damaging |
Het |
Syne2 |
C |
T |
12: 76,154,230 (GRCm39) |
|
probably benign |
Het |
Taf9 |
T |
A |
13: 100,790,860 (GRCm39) |
|
probably benign |
Het |
Thumpd2 |
G |
A |
17: 81,334,040 (GRCm39) |
A516V |
possibly damaging |
Het |
Tmem132e |
A |
G |
11: 82,335,308 (GRCm39) |
K797E |
probably damaging |
Het |
Ttc41 |
T |
A |
10: 86,567,113 (GRCm39) |
L593Q |
probably benign |
Het |
Uggt1 |
A |
C |
1: 36,249,103 (GRCm39) |
I279S |
possibly damaging |
Het |
Uxs1 |
A |
G |
1: 43,804,084 (GRCm39) |
F277S |
probably damaging |
Het |
Vat1 |
A |
T |
11: 101,351,380 (GRCm39) |
N320K |
possibly damaging |
Het |
Wdr81 |
G |
T |
11: 75,336,256 (GRCm39) |
A592E |
|
Het |
Zfp780b |
C |
T |
7: 27,673,143 (GRCm39) |
|
probably null |
Het |
Zfp944 |
A |
T |
17: 22,562,619 (GRCm39) |
|
probably null |
Het |
Zfp956 |
G |
T |
6: 47,934,437 (GRCm39) |
G136W |
possibly 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 |
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 |
|
|
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'- CCCATGTATCTATGAGTCTTCGG -3'
(R):5'- CTGATCACAAGGCTTGGCATC -3'
Sequencing Primer
(F):5'- TGAGTCTTCGGTCTCACAAATACAC -3'
(R):5'- TCACAAGGCTTGGCATCTGAGG -3'
|
Posted On |
2022-03-25 |