Mutagenetix > Incidental Mutation

Incidental Mutation 'R5588:Tpte'

438892

Institutional Source

Beutler Lab

Gene Symbol

Tpte

Ensembl Gene

ENSMUSG00000031481

Gene Name

transmembrane phosphatase with tensin homology

Synonyms

Vsp, Pten2

MMRRC Submission

043268-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5588 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22773457-22861432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22774983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 18 (Y18N)

Ref Sequence

ENSEMBL: ENSMUSP00000147872 (fasta)

Gene Model

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

AlphaFold

G5E8H5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077194
AA Change: Y18N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: Y18N

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

possibly damaging
Transcript: ENSMUST00000211497
AA Change: Y18N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211747
AA Change: Y18N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,949,417 (GRCm39)	Q1105K	possibly damaging	Het
Afg3l2	A	T	18: 67,573,277 (GRCm39)	V175D	possibly damaging	Het
Aldh1a2	G	A	9: 71,190,732 (GRCm39)	R325H	probably damaging	Het
Arhgef18	T	A	8: 3,438,878 (GRCm39)		probably benign	Het
Atp8a1	A	G	5: 67,972,027 (GRCm39)	L43P	probably damaging	Het
Bdh1	T	C	16: 31,256,937 (GRCm39)		probably null	Het
Ccdc85c	T	C	12: 108,177,793 (GRCm39)	Y320C	probably damaging	Het
Cobl	A	T	11: 12,293,886 (GRCm39)	L290*	probably null	Het
Cyp2c66	A	G	19: 39,151,858 (GRCm39)	D191G	possibly damaging	Het
Dhx34	T	C	7: 15,932,825 (GRCm39)	H1038R	probably damaging	Het
Eea1	T	C	10: 95,859,772 (GRCm39)	V686A	probably benign	Het
Eif2b4	A	T	5: 31,349,517 (GRCm39)	C101*	probably null	Het
Eif4a3	A	C	11: 119,186,952 (GRCm39)	S84A	probably benign	Het
Elfn2	T	C	15: 78,558,076 (GRCm39)	D157G	probably damaging	Het
Fat2	T	A	11: 55,173,103 (GRCm39)	I2537F	probably damaging	Het
Fbxo38	A	G	18: 62,659,248 (GRCm39)	F350L	probably damaging	Het
Fgd3	A	T	13: 49,440,786 (GRCm39)	L215Q	probably damaging	Het
Fhdc1	A	G	3: 84,372,783 (GRCm39)	V73A	possibly damaging	Het
Gapvd1	T	A	2: 34,599,166 (GRCm39)	T690S	probably damaging	Het
Gask1a	C	T	9: 121,794,247 (GRCm39)	Q134*	probably null	Het
Gm14418	A	T	2: 177,079,065 (GRCm39)	I310K	probably benign	Het
Gm5141	A	T	13: 62,921,584 (GRCm39)	N528K	probably benign	Het
Gsap	A	C	5: 21,456,147 (GRCm39)	E417A	probably damaging	Het
Kcnab1	A	C	3: 65,283,976 (GRCm39)	D398A	possibly damaging	Het
Kif5b	T	G	18: 6,225,787 (GRCm39)	N160T	probably benign	Het
Lilrb4b	G	A	10: 51,357,422 (GRCm39)	R86Q	probably benign	Het
Lmo7	T	C	14: 102,134,026 (GRCm39)		probably null	Het
Mlph	T	C	1: 90,859,321 (GRCm39)	S219P	possibly damaging	Het
Ncapg2	T	C	12: 116,376,697 (GRCm39)	I95T	possibly damaging	Het
Nedd9	A	T	13: 41,469,437 (GRCm39)	I572N	possibly damaging	Het
Nup155	G	A	15: 8,148,737 (GRCm39)		probably null	Het
Olfml2a	T	C	2: 38,850,047 (GRCm39)	S588P	probably damaging	Het
Or4a68	T	C	2: 89,269,760 (GRCm39)	R288G	probably damaging	Het
Or4c12	T	A	2: 89,774,136 (GRCm39)	T108S	probably benign	Het
Or6c1	T	G	10: 129,517,705 (GRCm39)	N301T	possibly damaging	Het
Parva	C	A	7: 112,159,269 (GRCm39)	N142K	possibly damaging	Het
Pclo	T	A	5: 14,838,412 (GRCm39)	S4678R	unknown	Het
Pcnt	T	C	10: 76,278,445 (GRCm39)	D3G	possibly damaging	Het
Pdzd2	A	C	15: 12,374,367 (GRCm39)	S1923A	possibly damaging	Het
Per1	G	A	11: 68,998,453 (GRCm39)	G1055D	probably damaging	Het
Phf8-ps	G	A	17: 33,285,249 (GRCm39)	Q518*	probably null	Het
Plb1	G	A	5: 32,487,293 (GRCm39)		probably null	Het
Ppp1r14a	C	T	7: 28,992,709 (GRCm39)	P137L	probably damaging	Het
Rfx2	A	T	17: 57,086,890 (GRCm39)	S612T	possibly damaging	Het
Rtel1	T	C	2: 180,993,893 (GRCm39)	F642L	probably benign	Het
Sec14l3	T	C	11: 4,016,138 (GRCm39)	F19S	probably damaging	Het
Skint8	A	T	4: 111,794,089 (GRCm39)	M160L	probably benign	Het
Slc19a3	G	T	1: 83,000,776 (GRCm39)	Y80*	probably null	Het
Slc37a1	T	A	17: 31,565,431 (GRCm39)	W489R	probably damaging	Het
Smc4	A	G	3: 68,933,190 (GRCm39)	I604V	probably benign	Het
Srprb	G	T	9: 103,076,048 (GRCm39)	Y796*	probably null	Het
Tdrd7	T	A	4: 45,992,225 (GRCm39)	S220T	probably benign	Het
Tex15	T	C	8: 34,067,215 (GRCm39)	F2215S	probably damaging	Het
Ticrr	C	T	7: 79,328,853 (GRCm39)	A664V	probably damaging	Het
Tnc	T	G	4: 63,924,659 (GRCm39)	D1013A	possibly damaging	Het
Ubqlnl	T	A	7: 103,798,339 (GRCm39)	Q386L	probably damaging	Het
Vmn1r194	T	C	13: 22,428,512 (GRCm39)	V43A	possibly damaging	Het
Vmn2r130	A	T	17: 23,282,803 (GRCm39)	Q161L	probably benign	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zfhx4	T	G	3: 5,468,198 (GRCm39)	D2785E	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
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'- ACTGGGGCATAGAACCTATACCA -3'
(R):5'- GGTCCCTTAACAAATGGAGCAG -3'

Sequencing Primer
(F):5'- CCATTGATGACTGACTAGACCTGG -3'
(R):5'- AGAGGATGCACTTAGTCCTGCTAC -3'

Posted On

2016-10-26