Mutagenetix > Incidental Mutation

Incidental Mutation 'R0906:Tmem217'

83340

Institutional Source

Beutler Lab

Gene Symbol

Tmem217

Ensembl Gene

ENSMUSG00000079580

Gene Name

transmembrane protein 217

Synonyms

4933413N12Rik, EG622644

MMRRC Submission

039064-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29744981-29771359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29745490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 80 (L80P)

Ref Sequence

ENSEMBL: ENSMUSP00000132463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114683] [ENSMUST00000168339]

AlphaFold

Q14AF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000114683
AA Change: L80P

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

SMART Domains

Protein: ENSMUSP00000110331
Gene: ENSMUSG00000079580
AA Change: L80P

Domain	Start	End	E-Value	Type
Pfam:DUF4534	11	168	6.8e-68	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168339
AA Change: L80P

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

SMART Domains

Protein: ENSMUSP00000132463
Gene: ENSMUSG00000079580
AA Change: L80P

Domain	Start	End	E-Value	Type
Pfam:DUF4534	11	168	5.3e-62	PFAM

Meta Mutation Damage Score

0.6420

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	A	1: 130,665,430 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,517,842 (GRCm39)	H332R	probably benign	Het
Bace2	C	T	16: 97,158,141 (GRCm39)	P47L	possibly damaging	Het
Cyp2c39	A	G	19: 39,499,315 (GRCm39)	M1V	probably null	Het
Dcbld2	A	G	16: 58,275,610 (GRCm39)	E442G	probably damaging	Het
Gm14496	A	G	2: 181,642,308 (GRCm39)	T660A	probably damaging	Het
Gm4945	A	C	17: 47,353,796 (GRCm39)		noncoding transcript	Het
Gm6729	T	C	10: 86,376,456 (GRCm39)		noncoding transcript	Het
Golga1	G	A	2: 38,937,655 (GRCm39)	R204W	probably damaging	Het
Guf1	T	C	5: 69,723,729 (GRCm39)	I348T	probably damaging	Het
Htra4	T	A	8: 25,527,160 (GRCm39)	I212L	probably benign	Het
Itih5	G	A	2: 10,253,999 (GRCm39)	R750Q	probably benign	Het
Lgalsl2	T	C	7: 5,362,828 (GRCm39)	I153T	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Nsd1	T	C	13: 55,425,403 (GRCm39)	V1520A	probably benign	Het
Nuak1	C	T	10: 84,211,144 (GRCm39)	V315I	probably damaging	Het
Nup205	G	T	6: 35,213,827 (GRCm39)	G1740C	probably damaging	Het
Or1r1	G	C	11: 73,874,685 (GRCm39)	L250V	probably damaging	Het
Pclo	T	C	5: 14,726,700 (GRCm39)		probably benign	Het
Pik3r6	T	C	11: 68,426,927 (GRCm39)		probably benign	Het
Pikfyve	T	A	1: 65,292,556 (GRCm39)	F1336I	probably damaging	Het
Pla2r1	A	G	2: 60,345,291 (GRCm39)	I355T	possibly damaging	Het
Rgs22	A	T	15: 36,104,048 (GRCm39)		probably benign	Het
Sec63	T	A	10: 42,677,924 (GRCm39)	M312K	probably damaging	Het
Slc2a5	T	C	4: 150,227,287 (GRCm39)	I401T	probably benign	Het
Slc9a8	G	T	2: 167,276,787 (GRCm39)		probably benign	Het
Stab1	T	C	14: 30,867,206 (GRCm39)	E1718G	probably benign	Het
Terb1	A	T	8: 105,179,268 (GRCm39)	I640N	probably damaging	Het
Topbp1	C	T	9: 103,205,792 (GRCm39)	P810L	probably benign	Het
Ttbk2	G	A	2: 120,614,262 (GRCm39)	R151C	probably damaging	Het
Vmn2r88	T	G	14: 51,655,666 (GRCm39)	L626R	probably damaging	Het

Other mutations in Tmem217

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01094:Tmem217	APN	17	29,745,566 (GRCm39)	missense	probably benign	0.13
IGL01695:Tmem217	APN	17	29,745,322 (GRCm39)	missense	probably damaging	1.00
IGL02081:Tmem217	APN	17	29,745,347 (GRCm39)	missense	probably damaging	1.00
IGL02704:Tmem217	APN	17	29,745,532 (GRCm39)	missense	probably damaging	1.00
IGL02804:Tmem217	APN	17	29,745,455 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Tmem217	UTSW	17	29,745,466 (GRCm39)	missense	possibly damaging	0.94
R0200:Tmem217	UTSW	17	29,745,284 (GRCm39)	missense	probably benign	0.08
R0266:Tmem217	UTSW	17	29,745,573 (GRCm39)	missense	possibly damaging	0.87
R3111:Tmem217	UTSW	17	29,745,532 (GRCm39)	missense	probably damaging	1.00
R3927:Tmem217	UTSW	17	29,745,677 (GRCm39)	missense	probably damaging	1.00
R5628:Tmem217	UTSW	17	29,745,430 (GRCm39)	missense	probably damaging	0.98
R5822:Tmem217	UTSW	17	29,745,529 (GRCm39)	missense	probably damaging	1.00
R6766:Tmem217	UTSW	17	29,745,484 (GRCm39)	missense	probably damaging	1.00
R8301:Tmem217	UTSW	17	29,745,466 (GRCm39)	missense	possibly damaging	0.94
R9316:Tmem217	UTSW	17	29,745,383 (GRCm39)	missense	probably benign	0.00
R9424:Tmem217	UTSW	17	29,745,690 (GRCm39)	missense	possibly damaging	0.49
R9799:Tmem217	UTSW	17	29,745,232 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTCTCCGCTTCCCAAAGAGATACG -3'
(R):5'- AGGGGTCTTCTCCATCATGGCTAC -3'

Sequencing Primer
(F):5'- GCTTCCCAAAGAGATACGTCTATG -3'
(R):5'- TCATGGCTACCCACATGC -3'

Posted On

2013-11-08