Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02804:Tmem217'

360345

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem217

Ensembl Gene

ENSMUSG00000079580

Gene Name

transmembrane protein 217

Synonyms

4933413N12Rik, EG622644

Accession Numbers

Essential gene?

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

Stock #

IGL02804

Quality Score

Status

Chromosome

Chromosomal Location

29744981-29771359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29745455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 92 (L92F)

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: L92F

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

SMART Domains

Protein: ENSMUSP00000110331
Gene: ENSMUSG00000079580
AA Change: L92F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168339
AA Change: L92F

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

SMART Domains

Protein: ENSMUSP00000132463
Gene: ENSMUSG00000079580
AA Change: L92F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,397,009 (GRCm39)	I241N	possibly damaging	Het
Aftph	T	C	11: 20,676,107 (GRCm39)	T501A	possibly damaging	Het
Agrn	A	G	4: 156,258,512 (GRCm39)	S985P	probably benign	Het
Atxn7l1	T	A	12: 33,417,788 (GRCm39)	S650T	probably damaging	Het
Camk2d	G	A	3: 126,591,387 (GRCm39)	E286K	possibly damaging	Het
Card10	A	G	15: 78,686,649 (GRCm39)	V56A	probably damaging	Het
Fcgbpl1	G	T	7: 27,852,795 (GRCm39)	V1361L	probably benign	Het
H2-Q10	G	A	17: 35,784,147 (GRCm39)	G263R	probably damaging	Het
Herc4	A	C	10: 63,121,454 (GRCm39)	K365Q	probably benign	Het
Klhl33	T	C	14: 51,130,411 (GRCm39)	H101R	probably damaging	Het
Lef1	A	G	3: 130,988,338 (GRCm39)	N236D	probably damaging	Het
Lipg	T	A	18: 75,082,159 (GRCm39)	N255Y	probably damaging	Het
Lrp5	T	C	19: 3,650,777 (GRCm39)	D1219G	possibly damaging	Het
Myh7b	T	C	2: 155,467,643 (GRCm39)	L756P	probably damaging	Het
Nnt	A	G	13: 119,518,210 (GRCm39)		probably null	Het
Or6c88	T	C	10: 129,407,306 (GRCm39)	S261P	possibly damaging	Het
Pcsk9	A	G	4: 106,314,161 (GRCm39)	Y145H	probably damaging	Het
Prkag1	G	A	15: 98,713,385 (GRCm39)	S69L	probably damaging	Het
Prkd2	C	A	7: 16,589,815 (GRCm39)	R506S	probably benign	Het
Ralgapb	T	A	2: 158,268,204 (GRCm39)	D102E	possibly damaging	Het
Rbm44	A	G	1: 91,077,898 (GRCm39)		probably benign	Het
Snap23	T	C	2: 120,416,637 (GRCm39)		probably benign	Het
Sntg1	T	A	1: 8,874,182 (GRCm39)		probably benign	Het
Speer4a2	T	A	5: 26,291,429 (GRCm39)	K126*	probably null	Het
Strbp	T	C	2: 37,514,498 (GRCm39)		probably benign	Het
Troap	G	A	15: 98,975,552 (GRCm39)		probably null	Het
Vmn1r16	T	C	6: 57,300,467 (GRCm39)	M52V	probably benign	Het
Wwox	G	A	8: 115,438,753 (GRCm39)	G273E	probably damaging	Het
Zbp1	T	A	2: 173,050,939 (GRCm39)	K310N	probably damaging	Het
Zfp423	T	A	8: 88,509,285 (GRCm39)	H332L	probably benign	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
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
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

Posted On

2015-12-18