Mutagenetix > Incidental Mutation

Incidental Mutation 'R6888:Tmppe'

537059

Institutional Source

Beutler Lab

Gene Symbol

Tmppe

Ensembl Gene

ENSMUSG00000079260

Gene Name

transmembrane protein with metallophosphoesterase domain

Synonyms

MMRRC Submission

044982-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.639) question?

Stock #

R6888 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114230173-114236344 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114233769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 23 (S23T)

Ref Sequence

ENSEMBL: ENSMUSP00000107451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000111820] [ENSMUST00000217583]

AlphaFold

D3Z286

Predicted Effect

probably benign
Transcript: ENSMUST00000063042

SMART Domains

Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_35	41	358	2.5e-129	PFAM
Pfam:Glyco_hydro_42	56	216	9.4e-15	PFAM
Pfam:BetaGal_dom4_5	531	623	4.3e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111820
AA Change: S23T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107451
Gene: ENSMUSG00000079260
AA Change: S23T

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
transmembrane domain	84	106	N/A	INTRINSIC
transmembrane domain	116	138	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:Metallophos	207	389	5.1e-13	PFAM
Pfam:Metallophos_2	207	421	7.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217583

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg1	T	C	11: 120,238,141 (GRCm39)	Y190C	probably damaging	Het
Adgrv1	A	G	13: 81,656,788 (GRCm39)	I2902T	probably damaging	Het
AI429214	G	A	8: 37,460,987 (GRCm39)	G45D	possibly damaging	Het
Ambra1	A	G	2: 91,599,372 (GRCm39)	D164G	probably damaging	Het
Ap3b1	A	T	13: 94,545,299 (GRCm39)	Q184L	probably benign	Het
Arhgef17	T	C	7: 100,580,027 (GRCm39)	D307G	possibly damaging	Het
AY761185	A	T	8: 21,434,571 (GRCm39)	Y52*	probably null	Het
Bfsp1	A	G	2: 143,668,639 (GRCm39)	S647P	probably benign	Het
C130073F10Rik	A	G	4: 101,747,453 (GRCm39)	V192A	probably benign	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Ccdc170	T	C	10: 4,496,854 (GRCm39)	V458A	possibly damaging	Het
Ccdc187	G	A	2: 26,179,746 (GRCm39)	R238W	probably damaging	Het
Cdh1	A	G	8: 107,384,946 (GRCm39)	S380G	probably benign	Het
Cdk5rap3	T	C	11: 96,807,018 (GRCm39)	H4R	probably benign	Het
Cftr	G	A	6: 18,313,729 (GRCm39)		probably null	Het
Cstpp1	A	G	2: 91,252,239 (GRCm39)	Y41H	probably damaging	Het
Dnajc16	A	G	4: 141,504,303 (GRCm39)	V219A	probably benign	Het
Drd3	A	T	16: 43,637,502 (GRCm39)	I266F	probably benign	Het
Dut	A	G	2: 125,099,044 (GRCm39)	D177G	probably benign	Het
Esr1	A	G	10: 4,807,076 (GRCm39)	I331V	probably benign	Het
Gm11110	A	G	17: 57,409,143 (GRCm39)		probably benign	Het
Grm7	G	T	6: 111,335,314 (GRCm39)	G575V	possibly damaging	Het
Heatr3	A	G	8: 88,897,512 (GRCm39)	Y531C	probably damaging	Het
Igfn1	A	G	1: 135,910,218 (GRCm39)	V122A	probably benign	Het
Igsf21	T	C	4: 139,762,054 (GRCm39)	D208G	probably benign	Het
Kntc1	T	C	5: 123,949,373 (GRCm39)	Y1915H	probably damaging	Het
Lamc1	A	T	1: 153,138,238 (GRCm39)	D205E	probably damaging	Het
Limch1	C	T	5: 67,179,269 (GRCm39)	T713I	probably benign	Het
Lrp1b	A	G	2: 41,361,138 (GRCm39)	I555T	probably benign	Het
Lrp2	A	T	2: 69,354,485 (GRCm39)	F448I	probably damaging	Het
Marchf6	T	C	15: 31,459,379 (GRCm39)	K896E	probably benign	Het
Mroh4	T	C	15: 74,485,098 (GRCm39)	Y469C	possibly damaging	Het
Niban3	G	T	8: 72,056,383 (GRCm39)	R361L	probably benign	Het
Nos3	T	C	5: 24,588,333 (GRCm39)	V1060A	possibly damaging	Het
Nr1h4	A	G	10: 89,292,404 (GRCm39)	I406T	probably damaging	Het
Odf2l	T	C	3: 144,854,379 (GRCm39)		probably null	Het
Or2y15	A	T	11: 49,351,087 (GRCm39)	T194S	probably damaging	Het
Or5d14	A	G	2: 87,880,608 (GRCm39)	M120T	probably damaging	Het
Pals2	T	G	6: 50,157,257 (GRCm39)		probably null	Het
Pbx2	A	G	17: 34,813,081 (GRCm39)	Y119C	possibly damaging	Het
Pdcd6ip	C	A	9: 113,500,905 (GRCm39)	A526S	probably benign	Het
Prx	G	A	7: 27,219,059 (GRCm39)	D1187N	possibly damaging	Het
Ptpro	G	A	6: 137,357,198 (GRCm39)	V230I	probably benign	Het
Rtn3	C	T	19: 7,434,614 (GRCm39)	M440I	probably benign	Het
Sar1b	T	C	11: 51,679,019 (GRCm39)	I96T	probably damaging	Het
Sds	T	C	5: 120,618,965 (GRCm39)		probably null	Het
Secisbp2	A	G	13: 51,833,977 (GRCm39)	T706A	probably benign	Het
Sorcs3	A	T	19: 48,682,263 (GRCm39)	M433L	possibly damaging	Het
Sppl2a	A	G	2: 126,746,912 (GRCm39)	V472A	probably damaging	Het
Tbc1d9	A	G	8: 83,998,217 (GRCm39)	E1258G	possibly damaging	Het
Tbxas1	C	A	6: 38,929,008 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,568,095 (GRCm39)	I1333T	probably damaging	Het
Tmem108	C	T	9: 103,376,915 (GRCm39)	G178D	probably damaging	Het
Tmem174	A	G	13: 98,773,569 (GRCm39)	L87P	probably damaging	Het
Ttn	G	A	2: 76,591,447 (GRCm39)	T21074I	probably benign	Het
Tub	A	G	7: 108,628,505 (GRCm39)	M338V	probably null	Het
Vmn1r160	A	T	7: 22,571,531 (GRCm39)	R295*	probably null	Het
Vps52	T	C	17: 34,182,180 (GRCm39)	V518A	probably benign	Het
Wdr59	A	G	8: 112,177,675 (GRCm39)	V909A	probably benign	Het
Wnk1	T	C	6: 119,925,742 (GRCm39)	T1241A	probably benign	Het
Zfp882	G	A	8: 72,668,130 (GRCm39)	C319Y	probably benign	Het
Znfx1	A	T	2: 166,880,860 (GRCm39)	I308N	possibly damaging	Het

Other mutations in Tmppe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01823:Tmppe	APN	9	114,234,175 (GRCm39)	missense	probably benign	0.03
IGL02274:Tmppe	APN	9	114,234,499 (GRCm39)	missense	probably benign
IGL02349:Tmppe	APN	9	114,234,268 (GRCm39)	missense	probably benign
R0201:Tmppe	UTSW	9	114,233,707 (GRCm39)	frame shift	probably null
R1668:Tmppe	UTSW	9	114,233,968 (GRCm39)	missense	possibly damaging	0.89
R2206:Tmppe	UTSW	9	114,234,640 (GRCm39)	missense	probably benign
R5026:Tmppe	UTSW	9	114,234,887 (GRCm39)	missense	possibly damaging	0.90
R5054:Tmppe	UTSW	9	114,235,026 (GRCm39)	missense	probably benign	0.41
R5118:Tmppe	UTSW	9	114,234,549 (GRCm39)	missense	probably benign	0.02
R5623:Tmppe	UTSW	9	114,234,964 (GRCm39)	missense	possibly damaging	0.59
R6307:Tmppe	UTSW	9	114,233,812 (GRCm39)	missense	probably benign	0.00
R6502:Tmppe	UTSW	9	114,234,720 (GRCm39)	missense	probably damaging	1.00
R6597:Tmppe	UTSW	9	114,234,312 (GRCm39)	missense	probably benign	0.00
R6627:Tmppe	UTSW	9	114,234,553 (GRCm39)	missense	probably damaging	1.00
R6954:Tmppe	UTSW	9	114,234,591 (GRCm39)	missense	probably benign	0.06
R7032:Tmppe	UTSW	9	114,234,858 (GRCm39)	missense	probably damaging	1.00
R7141:Tmppe	UTSW	9	114,234,036 (GRCm39)	missense	probably benign	0.00
R7642:Tmppe	UTSW	9	114,233,862 (GRCm39)	missense	possibly damaging	0.95
R8894:Tmppe	UTSW	9	114,230,260 (GRCm39)	start gained	probably benign
R9101:Tmppe	UTSW	9	114,234,309 (GRCm39)	missense	probably damaging	0.99
Z1088:Tmppe	UTSW	9	114,234,145 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATAAAGCTGACACCAGTTCCTG -3'
(R):5'- CAGCCAGCTTCCAAATCTGG -3'

Sequencing Primer
(F):5'- CAGTTCCTGGTTGCAGGC -3'
(R):5'- GAAACAGGTAGATTCCACGGC -3'

Posted On

2018-10-18