Mutagenetix > Incidental Mutation

Incidental Mutation 'R4050:Tpte'

314107

Institutional Source

Beutler Lab

Gene Symbol

Tpte

Ensembl Gene

ENSMUSG00000031481

Gene Name

transmembrane phosphatase with tensin homology

Synonyms

Vsp, Pten2

MMRRC Submission

040968-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22773457-22861432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22856000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 600 (V600E)

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: V600E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: V600E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,029,449 (GRCm39)	D473G	probably damaging	Het
Abca1	T	A	4: 53,044,144 (GRCm39)	Q1826L	probably damaging	Het
Apob	G	A	12: 8,065,390 (GRCm39)	V4087I	probably benign	Het
Atp10b	G	A	11: 43,150,363 (GRCm39)	A1354T	probably benign	Het
Baz1a	A	G	12: 54,976,404 (GRCm39)	V424A	probably benign	Het
Cdc20b	G	A	13: 113,200,819 (GRCm39)	D180N	probably benign	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Ddb1	A	G	19: 10,605,171 (GRCm39)	D1053G	probably benign	Het
Ddx39a	T	A	8: 84,448,863 (GRCm39)	M246K	probably benign	Het
Dip2a	G	A	10: 76,114,441 (GRCm39)	T1013M	probably damaging	Het
Edar	G	T	10: 58,445,769 (GRCm39)	T265N	possibly damaging	Het
Fcgbpl1	T	C	7: 27,852,410 (GRCm39)	V1311A	possibly damaging	Het
Gbp8	T	A	5: 105,179,104 (GRCm39)	I132F	probably damaging	Het
Gga1	A	G	15: 78,775,691 (GRCm39)	D382G	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm10518	C	A	1: 179,631,378 (GRCm39)		probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
H2-Eb1	T	A	17: 34,533,342 (GRCm39)	L188Q	probably damaging	Het
Heatr6	A	G	11: 83,646,599 (GRCm39)	S95G	probably damaging	Het
Hnf1a	T	A	5: 115,108,633 (GRCm39)	N91Y	probably damaging	Het
Ints10	C	T	8: 69,280,003 (GRCm39)	S710F	probably damaging	Het
Kazn	C	T	4: 141,834,215 (GRCm39)	E614K	unknown	Het
Kif26a	T	A	12: 112,146,350 (GRCm39)	M1812K	probably benign	Het
Lmo7	A	T	14: 102,139,713 (GRCm39)	K488*	probably null	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Met	A	G	6: 17,533,983 (GRCm39)	T645A	probably benign	Het
Mpp4	T	C	1: 59,185,903 (GRCm39)		probably null	Het
Mycl	A	T	4: 122,890,632 (GRCm39)		probably null	Het
Ncbp1	G	A	4: 46,147,483 (GRCm39)	R110H	probably damaging	Het
Nfasc	G	T	1: 132,538,043 (GRCm39)		probably benign	Het
Nup35	A	G	2: 80,486,320 (GRCm39)	I212V	probably benign	Het
Or2y8	T	G	11: 52,035,961 (GRCm39)	Y132S	probably damaging	Het
Or4p20	A	G	2: 88,253,967 (GRCm39)	M134T	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcgf5	G	A	19: 36,420,311 (GRCm39)	S181N	probably damaging	Het
Plk2	C	T	13: 110,536,400 (GRCm39)	T617I	probably damaging	Het
Polq	A	T	16: 36,913,182 (GRCm39)		probably null	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Pramel24	T	C	4: 143,453,692 (GRCm39)	S267P	probably benign	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Prune1	T	C	3: 95,169,542 (GRCm39)	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,004,840 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall3	G	A	18: 81,014,697 (GRCm39)	A1005V	probably benign	Het
Samd15	T	G	12: 87,247,406 (GRCm39)	N30K	probably benign	Het
Scn8a	A	T	15: 100,911,294 (GRCm39)	K905*	probably null	Het
Scrib	G	A	15: 75,923,322 (GRCm39)	R1245W	possibly damaging	Het
Skint4	C	T	4: 111,981,811 (GRCm39)	S260L	probably benign	Het
Slc29a2	A	T	19: 5,079,481 (GRCm39)	M339L	possibly damaging	Het
Slx9	T	C	10: 77,350,164 (GRCm39)	R75G	possibly damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Synpo2	T	C	3: 122,907,927 (GRCm39)	D463G	possibly damaging	Het
Taf4	C	A	2: 179,573,805 (GRCm39)	G688C	probably damaging	Het
Tasor2	A	G	13: 3,623,507 (GRCm39)	S2148P	probably benign	Het
Ttn	A	G	2: 76,651,510 (GRCm39)	V10953A	probably benign	Het
Vav2	T	C	2: 27,178,691 (GRCm39)	Y333C	probably benign	Het
Vav2	A	G	2: 27,181,415 (GRCm39)	S311P	probably damaging	Het
Zbtb26	A	C	2: 37,327,000 (GRCm39)	M1R	probably null	Het
Zfp26	G	A	9: 20,353,525 (GRCm39)	P88L	probably benign	Het
Zfp324	T	C	7: 12,704,794 (GRCm39)	F328L	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
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'- TGGGCTGTGACATCAAGAATAC -3'
(R):5'- AATTGTGGCAAAGGAAATCCCAAAC -3'

Sequencing Primer
(F):5'- GCTGGGCATATACTTCTG -3'
(R):5'- GTTGGGTGACACAAACTTGTAATCCC -3'

Posted On

2015-04-30