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: 0.081) question?

Stock #

IGL01695

Quality Score

Status

Chromosome

Chromosomal Location

29526033-29549593 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29526348 bp (GRCm38)

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
2610507B11Rik	T	C	11: 78,265,193	V177A	probably benign	Het
Ap3b2	T	A	7: 81,476,939		probably benign	Het
Arfgef3	T	C	10: 18,603,419	T1483A	probably benign	Het
Arl5a	A	T	2: 52,412,105	I99N	probably damaging	Het
Bahcc1	G	A	11: 120,276,609	G1279R	probably benign	Het
Bbs5	A	G	2: 69,649,090	N43S	probably damaging	Het
Cdh23	C	T	10: 60,331,833	V1795M	probably benign	Het
Cep350	T	C	1: 155,944,158	E353G	probably damaging	Het
Cps1	A	T	1: 67,197,035	I976L	probably benign	Het
Ctdp1	A	T	18: 80,449,626	S551R	probably damaging	Het
Cyp2b19	C	T	7: 26,759,064	T68I	probably damaging	Het
Esr2	A	G	12: 76,145,319	S312P	probably damaging	Het
Fam26e	A	G	10: 34,092,202	V285A	possibly damaging	Het
Gm11639	A	T	11: 104,736,063	E864D	probably damaging	Het
Gm6408	A	G	5: 146,482,129		probably benign	Het
Krt9	A	T	11: 100,191,437		probably null	Het
Myh6	T	C	14: 54,957,413	T662A	probably benign	Het
Ntn1	T	C	11: 68,226,604	D473G	probably benign	Het
Olfr576	T	C	7: 102,965,583	F161S	probably damaging	Het
Piezo1	A	T	8: 122,495,509	C961S	possibly damaging	Het
Pik3c2a	T	C	7: 116,417,518	T335A	possibly damaging	Het
Plaa	A	T	4: 94,574,037	Y140*	probably null	Het
Plxnb2	T	C	15: 89,157,214	I1749V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,064,003	N555K	probably damaging	Het
Ptprn2	T	A	12: 116,841,388	H174Q	probably benign	Het
Reln	G	A	5: 21,920,438	T2749M	probably damaging	Het
Scarf1	A	G	11: 75,521,957	N384S	probably damaging	Het
Scrt1	T	A	15: 76,518,950	H280L	unknown	Het
Serpina1f	C	A	12: 103,693,684	C113F	probably damaging	Het
Setdb2	A	T	14: 59,402,293		probably benign	Het
Strc	A	G	2: 121,375,298	L830P	probably damaging	Het
Tifab	T	C	13: 56,176,385	S82G	probably benign	Het
Trio	T	C	15: 27,773,001	E715G	probably damaging	Het
Ttn	A	T	2: 76,944,016	M2182K	probably damaging	Het
Ube2d1	T	C	10: 71,262,252	D12G	probably damaging	Het
Utrn	T	C	10: 12,745,342	D195G	probably benign	Het

Other mutations in Tmem217

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01094:Tmem217	APN	17	29526592	missense	probably benign	0.13
IGL02081:Tmem217	APN	17	29526373	missense	probably damaging	1.00
IGL02704:Tmem217	APN	17	29526558	missense	probably damaging	1.00
IGL02804:Tmem217	APN	17	29526481	missense	probably damaging	1.00
G1Funyon:Tmem217	UTSW	17	29526492	missense	possibly damaging	0.94
R0200:Tmem217	UTSW	17	29526310	missense	probably benign	0.08
R0266:Tmem217	UTSW	17	29526599	missense	possibly damaging	0.87
R0906:Tmem217	UTSW	17	29526516	missense	probably damaging	1.00
R3111:Tmem217	UTSW	17	29526558	missense	probably damaging	1.00
R3927:Tmem217	UTSW	17	29526703	missense	probably damaging	1.00
R5628:Tmem217	UTSW	17	29526456	missense	probably damaging	0.98
R5822:Tmem217	UTSW	17	29526555	missense	probably damaging	1.00
R6766:Tmem217	UTSW	17	29526510	missense	probably damaging	1.00
R8301:Tmem217	UTSW	17	29526492	missense	possibly damaging	0.94
R9316:Tmem217	UTSW	17	29526409	missense	probably benign	0.00
R9424:Tmem217	UTSW	17	29526716	missense	possibly damaging	0.49
R9799:Tmem217	UTSW	17	29526258	missense	probably damaging	0.97

Posted On

2014-01-21