Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01989:Tmem247'

182835

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem247

Ensembl Gene

ENSMUSG00000037689

Gene Name

transmembrane protein 247

Synonyms

1700090G07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01989

Quality Score

Status

Chromosome

Chromosomal Location

87224776-87229795 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87225719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 53 (E53G)

Ref Sequence

ENSEMBL: ENSMUSP00000039338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042172]

AlphaFold

Q497K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042172
AA Change: E53G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039338
Gene: ENSMUSG00000037689
AA Change: E53G

Domain	Start	End	E-Value	Type
Pfam:TMEM247	1	210	2e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202221

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,862,266 (GRCm39)	V8D	probably damaging	Het
Asb15	A	G	6: 24,565,943 (GRCm39)	T299A	probably damaging	Het
Asph	A	T	4: 9,602,462 (GRCm39)		probably benign	Het
Cadm3	G	A	1: 173,165,578 (GRCm39)		probably benign	Het
Cep164	G	A	9: 45,704,313 (GRCm39)		probably benign	Het
Ces2c	C	A	8: 105,576,375 (GRCm39)	N129K	probably damaging	Het
Chdh	C	A	14: 29,753,688 (GRCm39)	P199Q	possibly damaging	Het
Dnah7b	T	C	1: 46,328,694 (GRCm39)	V3142A	probably damaging	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Dock2	G	T	11: 34,218,053 (GRCm39)	N1172K	probably benign	Het
Dppa5a	T	A	9: 78,275,103 (GRCm39)	E66D	probably benign	Het
F5	A	G	1: 164,003,876 (GRCm39)	S224G	probably benign	Het
Fign	T	C	2: 63,810,794 (GRCm39)	T159A	probably benign	Het
Fsip2	A	T	2: 82,824,211 (GRCm39)	D6648V	probably damaging	Het
Gbp2b	A	T	3: 142,317,201 (GRCm39)	E519V	probably benign	Het
Hdac10	A	G	15: 89,009,546 (GRCm39)	L462P	probably damaging	Het
Hecw2	A	G	1: 53,879,951 (GRCm39)	L1286S	probably damaging	Het
Hnrnpll	A	G	17: 80,346,169 (GRCm39)	V364A	probably benign	Het
Hnrnpul2	A	G	19: 8,800,992 (GRCm39)	T282A	probably damaging	Het
Il12a	T	A	3: 68,598,909 (GRCm39)		probably benign	Het
Insl5	C	A	4: 102,883,838 (GRCm39)	V28L	probably benign	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Lrfn2	A	G	17: 49,378,113 (GRCm39)	D398G	probably damaging	Het
Lrp1	C	T	10: 127,413,998 (GRCm39)	D1137N	probably damaging	Het
Mettl18	C	A	1: 163,823,872 (GRCm39)	D64E	probably benign	Het
Mrpl3	A	G	9: 104,948,678 (GRCm39)	T245A	probably benign	Het
Mrps18c	C	A	5: 100,949,775 (GRCm39)	P52Q	probably damaging	Het
Myh3	A	T	11: 66,977,481 (GRCm39)	D377V	probably damaging	Het
N4bp1	C	A	8: 87,575,115 (GRCm39)	V727L	probably damaging	Het
Npffr2	A	G	5: 89,730,831 (GRCm39)	T254A	probably benign	Het
Nsfl1c	C	A	2: 151,342,649 (GRCm39)	T73K	probably damaging	Het
Or8a1b	C	T	9: 37,623,132 (GRCm39)	V148I	probably damaging	Het
Plxna1	C	T	6: 89,306,396 (GRCm39)	W1442*	probably null	Het
Serpina3n	T	A	12: 104,379,750 (GRCm39)	M381K	probably benign	Het
Shank3	C	T	15: 89,387,502 (GRCm39)		probably benign	Het
Smtnl1	T	C	2: 84,648,814 (GRCm39)	N147D	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,412 (GRCm39)	S96P	unknown	Het
Ssh2	A	G	11: 77,344,511 (GRCm39)	E832G	possibly damaging	Het
Stxbp1	T	C	2: 32,702,076 (GRCm39)	D207G	probably benign	Het
Sult1c2	A	T	17: 54,281,055 (GRCm39)	M16K	probably benign	Het
Tmem86a	A	T	7: 46,703,187 (GRCm39)	I105F	probably benign	Het
Tph2	A	G	10: 114,981,921 (GRCm39)	S304P	probably benign	Het
Ttn	T	C	2: 76,608,883 (GRCm39)	D17711G	probably damaging	Het
Urb1	A	T	16: 90,566,474 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,837,478 (GRCm39)	I1729L	possibly damaging	Het
Vmn2r90	T	A	17: 17,933,494 (GRCm39)	Y351*	probably null	Het
Wfdc5	C	T	2: 164,020,651 (GRCm39)		probably null	Het
Wnt3	G	A	11: 103,703,233 (GRCm39)	D239N	probably benign	Het
Zbtb8b	T	A	4: 129,326,181 (GRCm39)	E295V	probably damaging	Het
Zfp458	T	C	13: 67,407,691 (GRCm39)	T52A	probably damaging	Het

Other mutations in Tmem247

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Tmem247	APN	17	87,224,963 (GRCm39)	missense	probably benign	0.14
IGL02238:Tmem247	APN	17	87,225,721 (GRCm39)	missense	probably damaging	0.98
IGL03336:Tmem247	APN	17	87,225,857 (GRCm39)	missense	probably damaging	0.98
R0133:Tmem247	UTSW	17	87,225,989 (GRCm39)	missense	probably benign	0.32
R0415:Tmem247	UTSW	17	87,229,750 (GRCm39)	missense	probably damaging	0.98
R0426:Tmem247	UTSW	17	87,225,931 (GRCm39)	missense	possibly damaging	0.95
R0539:Tmem247	UTSW	17	87,224,906 (GRCm39)	missense	probably benign	0.45
R2306:Tmem247	UTSW	17	87,225,869 (GRCm39)	missense	probably benign	0.01
R4750:Tmem247	UTSW	17	87,229,770 (GRCm39)	missense	probably damaging	0.98
R6665:Tmem247	UTSW	17	87,225,998 (GRCm39)	missense	probably benign	0.14
R7159:Tmem247	UTSW	17	87,225,710 (GRCm39)	missense	probably benign
R7881:Tmem247	UTSW	17	87,229,728 (GRCm39)	missense	probably damaging	0.97
R8125:Tmem247	UTSW	17	87,229,795 (GRCm39)	missense

Posted On

2014-05-07