Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01695:Tmem217'

104251

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: 0.074) question?

Stock #

IGL01695

Quality Score

Status

Chromosome

Chromosomal Location

29744981-29771359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29745322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 136 (H136L)

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: H136L

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

SMART Domains

Protein: ENSMUSP00000110331
Gene: ENSMUSG00000079580
AA Change: H136L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168339
AA Change: H136L

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

SMART Domains

Protein: ENSMUSP00000132463
Gene: ENSMUSG00000079580
AA Change: H136L

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	T	A	7: 81,126,687 (GRCm39)		probably benign	Het
Arfgef3	T	C	10: 18,479,167 (GRCm39)	T1483A	probably benign	Het
Arl5a	A	T	2: 52,302,117 (GRCm39)	I99N	probably damaging	Het
Bahcc1	G	A	11: 120,167,435 (GRCm39)	G1279R	probably benign	Het
Bbs5	A	G	2: 69,479,434 (GRCm39)	N43S	probably damaging	Het
Bltp2	T	C	11: 78,156,019 (GRCm39)	V177A	probably benign	Het
Calhm5	A	G	10: 33,968,198 (GRCm39)	V285A	possibly damaging	Het
Cdh23	C	T	10: 60,167,612 (GRCm39)	V1795M	probably benign	Het
Cep350	T	C	1: 155,819,904 (GRCm39)	E353G	probably damaging	Het
Cps1	A	T	1: 67,236,194 (GRCm39)	I976L	probably benign	Het
Ctdp1	A	T	18: 80,492,841 (GRCm39)	S551R	probably damaging	Het
Cyp2b19	C	T	7: 26,458,489 (GRCm39)	T68I	probably damaging	Het
Efcab3	A	T	11: 104,626,889 (GRCm39)	E864D	probably damaging	Het
Esr2	A	G	12: 76,192,093 (GRCm39)	S312P	probably damaging	Het
Gm6408	A	G	5: 146,418,939 (GRCm39)		probably benign	Het
Krt9	A	T	11: 100,082,263 (GRCm39)		probably null	Het
Myh6	T	C	14: 55,194,870 (GRCm39)	T662A	probably benign	Het
Ntn1	T	C	11: 68,117,430 (GRCm39)	D473G	probably benign	Het
Or51a7	T	C	7: 102,614,790 (GRCm39)	F161S	probably damaging	Het
Piezo1	A	T	8: 123,222,248 (GRCm39)	C961S	possibly damaging	Het
Pik3c2a	T	C	7: 116,016,753 (GRCm39)	T335A	possibly damaging	Het
Plaa	A	T	4: 94,462,274 (GRCm39)	Y140*	probably null	Het
Plxnb2	T	C	15: 89,041,417 (GRCm39)	I1749V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,064,003 (GRCm39)	N555K	probably damaging	Het
Ptprn2	T	A	12: 116,805,008 (GRCm39)	H174Q	probably benign	Het
Reln	G	A	5: 22,125,436 (GRCm39)	T2749M	probably damaging	Het
Scarf1	A	G	11: 75,412,783 (GRCm39)	N384S	probably damaging	Het
Scrt1	T	A	15: 76,403,150 (GRCm39)	H280L	unknown	Het
Serpina1f	C	A	12: 103,659,943 (GRCm39)	C113F	probably damaging	Het
Setdb2	A	T	14: 59,639,742 (GRCm39)		probably benign	Het
Strc	A	G	2: 121,205,779 (GRCm39)	L830P	probably damaging	Het
Tifab	T	C	13: 56,324,198 (GRCm39)	S82G	probably benign	Het
Trio	T	C	15: 27,773,087 (GRCm39)	E715G	probably damaging	Het
Ttn	A	T	2: 76,774,360 (GRCm39)	M2182K	probably damaging	Het
Ube2d1	T	C	10: 71,098,082 (GRCm39)	D12G	probably damaging	Het
Utrn	T	C	10: 12,621,086 (GRCm39)	D195G	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
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
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

2014-01-21