Mutagenetix > Incidental Mutation

Incidental Mutation 'RF006:Tpte'

602824

Institutional Source

Beutler Lab

Gene Symbol

Tpte

Ensembl Gene

ENSMUSG00000031481

Gene Name

transmembrane phosphatase with tensin homology

Synonyms

Vsp, Pten2

Accession Numbers

Essential gene?

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

Stock #

RF006 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22773457-22861432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22796959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

Ref Sequence

ENSEMBL: ENSMUSP00000076435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077194] [ENSMUST00000211497] [ENSMUST00000211747]

AlphaFold

G5E8H5

Predicted Effect

probably benign
Transcript: ENSMUST00000077194
AA Change: T94A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: T94A

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
AA Change: T94A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

97% (36/37)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd7	GTT	GT	2: 3,341,736 (GRCm39)		probably null	Het
Acp7	A	T	7: 28,314,204 (GRCm39)	N330K	possibly damaging	Het
Adam25	A	T	8: 41,208,834 (GRCm39)	H700L	probably benign	Het
Alg9	GGGTGG	GGGTGGTGG	9: 50,686,717 (GRCm39)		probably benign	Het
Atp8b3	A	T	10: 80,362,070 (GRCm39)	V689E	probably benign	Het
Atxn2l	A	G	7: 126,095,063 (GRCm39)	V533A	probably benign	Het
Catsperb	G	A	12: 101,542,238 (GRCm39)		probably null	Het
Ccdc121	C	T	5: 31,644,894 (GRCm39)	Q216*	probably null	Het
Ccdc13	T	C	9: 121,643,273 (GRCm39)	K376R	probably damaging	Het
Ccdc170	C	CCAA	10: 4,511,030 (GRCm39)		probably benign	Het
Cdh9	G	C	15: 16,855,916 (GRCm39)	R652P	probably damaging	Het
Cenpf	A	C	1: 189,389,583 (GRCm39)	C1416W	probably damaging	Het
Chga	GCA	GCATCA	12: 102,527,671 (GRCm39)		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGAAG	TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG	9: 86,922,478 (GRCm39)		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGAGAGACACGCTGGCCAGGGA	9: 86,922,494 (GRCm39)		probably benign	Het
Dennd3	T	C	15: 73,419,441 (GRCm39)	I744T	probably damaging	Het
Dnah1	C	T	14: 31,029,832 (GRCm39)	R491Q	probably benign	Het
Eif4a2	A	T	16: 22,929,028 (GRCm39)	M188L	possibly damaging	Het
Esf1	CTCCTCTTC	CTC	2: 140,006,294 (GRCm39)		probably benign	Het
Fat3	T	C	9: 15,909,913 (GRCm39)	I2030V	probably benign	Het
Gab3	CTT	CTTTTT	X: 74,043,633 (GRCm39)		probably benign	Het
Gins4	A	T	8: 23,717,183 (GRCm39)	V195E	possibly damaging	Het
Gm17402	TCCTCCTCC	TCCTCCTCCCCCTCCTCC	3: 67,272,892 (GRCm39)		probably benign	Het
Gm17604	CTCTCTTTC	CTC	X: 163,786,814 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,489,128 (GRCm39)		probably benign	Het
Gnpnat1	T	A	14: 45,620,900 (GRCm39)		probably null	Het
Inpp4a	A	C	1: 37,427,908 (GRCm39)	N651T	possibly damaging	Het
Ireb2	T	C	9: 54,788,768 (GRCm39)	F81L	possibly damaging	Het
Kcnh3	T	A	15: 99,137,809 (GRCm39)		probably null	Het
Kmt2b	CTCCTC	CTCCTCATCCTC	7: 30,285,802 (GRCm39)		probably benign	Het
Kmt2c	TG	TGCTGTGG	5: 25,520,770 (GRCm39)		probably benign	Het
Myt1	T	C	2: 181,439,566 (GRCm39)	S405P	probably damaging	Het
Net1	T	C	13: 3,937,406 (GRCm39)	T245A	probably benign	Het
Nkx2-1	T	C	12: 56,580,332 (GRCm39)	T203A	probably damaging	Het
Oas3	T	C	5: 120,912,165 (GRCm39)	E75G	probably damaging	Het
Pappa	T	A	4: 65,242,110 (GRCm39)	D1491E	probably benign	Het
Pkhd1l1	C	A	15: 44,366,634 (GRCm39)	T704K	probably benign	Het
Pkhd1l1	TT	TTTTTTTTTGT	15: 44,421,903 (GRCm39)		probably benign	Het
Plscr1l1	A	T	9: 92,234,702 (GRCm39)	I146F	possibly damaging	Het
Ppp1r8	TCTCTCAC	TC	4: 132,557,928 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,600 (GRCm39)	I157F	probably benign	Het
Pramel34	A	T	5: 93,784,562 (GRCm39)	C301S	probably benign	Het
Rspo4	C	T	2: 151,709,797 (GRCm39)		probably null	Het
Rtn4	T	C	11: 29,656,919 (GRCm39)	S358P	possibly damaging	Het
Siglecg	T	A	7: 43,058,288 (GRCm39)	Y58*	probably null	Het
Slc4a1	C	T	11: 102,247,542 (GRCm39)		probably null	Het
Slc9b1	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	3: 135,063,303 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,442,276 (GRCm39)	D64E	probably benign	Het
Spaca1	CTCGC	CTCGCTATCGC	4: 34,049,853 (GRCm39)		probably benign	Het
Srrm2	A	G	17: 24,031,562 (GRCm39)	S236G	unknown	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Strn	TGCTCCCTTACCCCAGTC	TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC	17: 78,984,700 (GRCm39)		probably null	Het
Tfeb	CAG	CAGGAG	17: 48,097,038 (GRCm39)		probably benign	Het
Tktl2	A	T	8: 66,965,504 (GRCm39)	E354V	probably benign	Het
Usp40	A	C	1: 87,894,917 (GRCm39)	S868A	possibly damaging	Het
Vmn2r24	G	A	6: 123,783,378 (GRCm39)	C526Y	probably damaging	Het
Vmn2r58	CAAAATGATGTAGCACTT	C	7: 41,486,383 (GRCm39)		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
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
Z1176:Tpte	UTSW	8	22,823,209 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAAGTTCTCCTGCGGTGC -3'
(R):5'- AACAGCCTTGTGGAGCAGTG -3'

Sequencing Primer
(F):5'- GTGCGAGGCTGGTGTGC -3'
(R):5'- AGCAGTGCTTGGGCTCCTC -3'

Posted On

2019-12-04