Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Tmppe'

390715

Institutional Source

Beutler Lab

Gene Symbol

Tmppe

Ensembl Gene

ENSMUSG00000079260

Gene Name

transmembrane protein with metallophosphoesterase domain

Synonyms

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.595) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114230173-114236344 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114235026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 442 (I442V)

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 benign
Transcript: ENSMUST00000111820
AA Change: I442V

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107451
Gene: ENSMUSG00000079260
AA Change: I442V

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

Meta Mutation Damage Score

0.0609

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,837,315 (GRCm39)	Y257H	probably damaging	Het
Adam28	C	T	14: 68,855,164 (GRCm39)	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 26,991,732 (GRCm39)	E627K	probably damaging	Het
Atad5	T	A	11: 79,985,502 (GRCm39)	S196R	probably benign	Het
Bcam	T	A	7: 19,490,785 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,962,320 (GRCm39)	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,804,471 (GRCm39)	I190V	probably benign	Het
Ccdc8	T	C	7: 16,728,970 (GRCm39)	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,540,529 (GRCm39)	R68G	probably damaging	Het
Dock3	T	C	9: 106,815,105 (GRCm39)	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007 (GRCm39)	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,700,318 (GRCm39)	V271L	possibly damaging	Het
Eif1ad15	T	C	12: 88,288,071 (GRCm39)	I61V	probably benign	Het
Eif2s2	A	C	2: 154,734,590 (GRCm39)		probably null	Het
Fndc7	A	G	3: 108,788,663 (GRCm39)	S193P	probably damaging	Het
Fzr1	G	A	10: 81,207,253 (GRCm39)		probably benign	Het
Gm17472	T	C	6: 42,957,938 (GRCm39)	I69T	probably damaging	Het
Gmppa	C	A	1: 75,416,015 (GRCm39)	Y137*	probably null	Het
Gpr45	A	G	1: 43,071,809 (GRCm39)	I151V	probably benign	Het
H1f0	G	A	15: 78,912,973 (GRCm39)	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,491,063 (GRCm39)	V114I	probably benign	Het
Impa2	C	A	18: 67,439,797 (GRCm39)	P98Q	probably damaging	Het
Kazn	T	C	4: 141,835,957 (GRCm39)	N573D	unknown	Het
Kcna2	A	T	3: 107,011,656 (GRCm39)	D79V	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kif13a	A	G	13: 46,956,122 (GRCm39)	Y561H	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra1	T	A	6: 130,352,247 (GRCm39)	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,570,869 (GRCm39)	R318S	probably damaging	Het
Mgat4d	G	A	8: 84,094,837 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,641,312 (GRCm39)		probably null	Het
Nostrin	A	T	2: 69,006,057 (GRCm39)	Q247L	possibly damaging	Het
Obi1	C	T	14: 104,745,466 (GRCm39)	G70E	probably damaging	Het
Obscn	T	C	11: 58,964,443 (GRCm39)	E3033G	probably damaging	Het
Pam	C	A	1: 97,749,642 (GRCm39)	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,795,157 (GRCm39)	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337 (GRCm39)	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptar1	G	T	19: 23,671,729 (GRCm39)	R44L	probably damaging	Het
Rad51c	T	C	11: 87,288,580 (GRCm39)	H201R	probably benign	Het
Rims2	A	T	15: 39,381,265 (GRCm39)		probably null	Het
Rpl22l1	T	G	3: 28,860,985 (GRCm39)	S67A	possibly damaging	Het
Rps10	A	G	17: 27,849,454 (GRCm39)	S143P	probably damaging	Het
Rundc1	T	C	11: 101,315,967 (GRCm39)	V13A	probably benign	Het
Sephs2	C	A	7: 126,872,564 (GRCm39)	M176I	probably benign	Het
Serpina16	C	T	12: 103,641,189 (GRCm39)	V179I	probably benign	Het
Serpini2	T	A	3: 75,166,784 (GRCm39)	T158S	probably damaging	Het
Slc12a3	A	G	8: 95,072,979 (GRCm39)	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,650,436 (GRCm39)	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,136,672 (GRCm39)		probably benign	Het
Tbr1	A	T	2: 61,636,346 (GRCm39)	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,247,064 (GRCm39)		probably null	Het
Tlr12	T	A	4: 128,511,063 (GRCm39)	K396*	probably null	Het
Tubb3	T	C	8: 124,147,607 (GRCm39)	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,416,901 (GRCm39)	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,671,708 (GRCm39)	V482L	possibly damaging	Het
Zfp184	G	T	13: 22,143,452 (GRCm39)	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,192,792 (GRCm39)	V270E	probably damaging	Het
Zfp985	A	T	4: 147,667,438 (GRCm39)	Y102F	probably 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
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
R6888:Tmppe	UTSW	9	114,233,769 (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'- TTTCTGGACACACTCACGCAG -3'
(R):5'- CATGTTCGCACTTCCATGGC -3'

Sequencing Primer
(F):5'- ACTCACGCAGGGCAGATCTTC -3'
(R):5'- TCTGAAGAGTTAAGCCTGCC -3'

Posted On

2016-06-06