Mutagenetix > Incidental Mutation

Incidental Mutation 'R3927:Tmem217'

308345

Institutional Source

Beutler Lab

Gene Symbol

Tmem217

Ensembl Gene

ENSMUSG00000079580

Gene Name

transmembrane protein 217

Synonyms

4933413N12Rik, EG622644

MMRRC Submission

040822-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R3927 (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 29745677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 18 (S18P)

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: S18P

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

SMART Domains

Protein: ENSMUSP00000110331
Gene: ENSMUSG00000079580
AA Change: S18P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168339
AA Change: S18P

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

SMART Domains

Protein: ENSMUSP00000132463
Gene: ENSMUSG00000079580
AA Change: S18P

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

Meta Mutation Damage Score

0.2519

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,538,563 (GRCm39)		probably null	Het
Alpk1	T	C	3: 127,471,365 (GRCm39)	H1039R	probably damaging	Het
Avpr1a	A	G	10: 122,285,616 (GRCm39)	S303G	probably benign	Het
Axdnd1	A	G	1: 156,246,840 (GRCm39)	L79S	probably damaging	Het
Baz1a	A	G	12: 54,967,928 (GRCm39)	I667T	possibly damaging	Het
Bend5	A	G	4: 111,305,802 (GRCm39)	Y282C	possibly damaging	Het
Clstn3	T	C	6: 124,428,327 (GRCm39)	D438G	probably damaging	Het
Cog3	A	G	14: 75,980,998 (GRCm39)		probably benign	Het
Cyp2j6	T	C	4: 96,441,525 (GRCm39)	N55S	probably benign	Het
Eif4b	G	A	15: 101,992,745 (GRCm39)	G101R	probably damaging	Het
Epha2	T	C	4: 141,033,861 (GRCm39)	L40P	probably damaging	Het
Fig4	A	G	10: 41,139,135 (GRCm39)	V356A	probably benign	Het
Hal	T	C	10: 93,349,888 (GRCm39)		probably benign	Het
Helz	A	G	11: 107,576,118 (GRCm39)	Y1770C	unknown	Het
Meis3	A	G	7: 15,911,419 (GRCm39)	T39A	probably benign	Het
Nod1	G	T	6: 54,921,902 (GRCm39)	R139S	probably benign	Het
Or6n2	A	T	1: 173,896,878 (GRCm39)	N5Y	probably damaging	Het
Pacsin3	C	T	2: 91,093,286 (GRCm39)		probably null	Het
Plekhh1	T	A	12: 79,100,422 (GRCm39)	I130N	probably damaging	Het
Plxna2	G	A	1: 194,428,465 (GRCm39)	E512K	probably benign	Het
Ppp1r9a	A	G	6: 5,057,531 (GRCm39)	I215M	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Sap130	A	T	18: 31,807,435 (GRCm39)	H414L	possibly damaging	Het
Slc33a1	A	G	3: 63,871,145 (GRCm39)	I156T	probably benign	Het
Slc37a2	G	A	9: 37,146,803 (GRCm39)	T338M	probably damaging	Het
Spinkl	T	A	18: 44,302,230 (GRCm39)		probably null	Het
Tmc5	T	A	7: 118,251,878 (GRCm39)	L657*	probably null	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Tubb4a	A	G	17: 57,387,967 (GRCm39)	V353A	probably benign	Het
Ube3b	T	C	5: 114,553,741 (GRCm39)	F974L	probably benign	Het
Ubqln5	A	G	7: 103,777,678 (GRCm39)	L382P	probably damaging	Het
Ufsp2	T	A	8: 46,436,723 (GRCm39)		probably null	Het
Unkl	C	T	17: 25,448,303 (GRCm39)	T66I	probably damaging	Het
Xrn2	T	A	2: 146,880,109 (GRCm39)	N477K	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zzef1	T	C	11: 72,749,208 (GRCm39)	S899P	probably damaging	Het
Zzz3	T	C	3: 152,161,499 (GRCm39)	Y298H	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
R0906:Tmem217	UTSW	17	29,745,490 (GRCm39)	missense	probably damaging	1.00
R3111:Tmem217	UTSW	17	29,745,532 (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'- ATCTGGGCATACACAGAGTACAG -3'
(R):5'- GGTCAGCTAAAGATGCTATTATCCC -3'

Sequencing Primer
(F):5'- CAGCTGGCTATCATGGTGATG -3'
(R):5'- GCTAAAGATGCTATTATCCCCTTTAC -3'

Posted On

2015-04-17