Mutagenetix > Incidental Mutation

Incidental Mutation 'R6665:Tmem247'

526952

Institutional Source

Beutler Lab

Gene Symbol

Tmem247

Ensembl Gene

ENSMUSG00000037689

Gene Name

transmembrane protein 247

Synonyms

1700090G07Rik

MMRRC Submission

044785-MU

Accession Numbers

Essential gene?

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

Stock #

R6665 (G1)

Quality Score

120.008

Status

Validated

Chromosome

Chromosomal Location

87224776-87229795 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87225998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 146 (Q146L)

Ref Sequence

ENSEMBL: ENSMUSP00000039338 (fasta)

Gene Model

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

AlphaFold

Q497K7

Predicted Effect

probably benign
Transcript: ENSMUST00000042172
AA Change: Q146L

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039338
Gene: ENSMUSG00000037689
AA Change: Q146L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202221
AA Change: Q54L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,815,775 (GRCm39)		probably null	Het
Adamts16	T	G	13: 70,927,689 (GRCm39)	K517Q	probably damaging	Het
Atp9b	A	C	18: 80,960,950 (GRCm39)	V87G	probably benign	Het
Avil	A	G	10: 126,856,394 (GRCm39)	K808E	probably damaging	Het
Bin2	T	C	15: 100,554,676 (GRCm39)	E49G	probably damaging	Het
Ccdc146	T	C	5: 21,508,092 (GRCm39)	Y652C	probably damaging	Het
Cd6	T	C	19: 10,768,367 (GRCm39)	N541D	probably benign	Het
Col28a1	A	G	6: 8,062,277 (GRCm39)	V671A	probably benign	Het
Dock6	C	T	9: 21,751,208 (GRCm39)	C355Y	probably damaging	Het
Dsc2	A	G	18: 20,183,205 (GRCm39)	F71S	probably damaging	Het
Dusp8	G	A	7: 141,643,842 (GRCm39)	P24S	probably damaging	Het
Dysf	A	G	6: 84,107,098 (GRCm39)	Y1151C	probably benign	Het
Fhip2b	A	T	14: 70,823,078 (GRCm39)	L659Q	probably damaging	Het
Frem2	T	C	3: 53,562,077 (GRCm39)	Y810C	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hexb	T	C	13: 97,315,893 (GRCm39)	N380D	probably benign	Het
Ice1	T	C	13: 70,751,592 (GRCm39)	E1498G	possibly damaging	Het
Lrif1	T	A	3: 106,642,659 (GRCm39)		probably null	Het
Myo9a	G	T	9: 59,779,155 (GRCm39)	G1637V	probably benign	Het
Myod1	A	T	7: 46,026,281 (GRCm39)	H62L	probably damaging	Het
Myoz3	A	C	18: 60,709,495 (GRCm39)	L222R	probably damaging	Het
Naca	T	A	10: 127,884,227 (GRCm39)	N2180K	probably damaging	Het
Or6c76	T	C	10: 129,612,116 (GRCm39)	F111S	probably damaging	Het
Pik3cb	A	G	9: 98,955,702 (GRCm39)	V405A	probably benign	Het
Prkdc	T	C	16: 15,603,914 (GRCm39)		probably null	Het
Rab32	T	C	10: 10,433,846 (GRCm39)		probably benign	Het
Serpinb10	A	C	1: 107,474,597 (GRCm39)	N253T	possibly damaging	Het
Slc13a5	C	T	11: 72,151,186 (GRCm39)	V131I	probably damaging	Het
Slc25a40	A	G	5: 8,502,788 (GRCm39)	N290S	probably benign	Het
Slc6a6	T	C	6: 91,703,020 (GRCm39)	V131A	probably benign	Het
Spef2	A	T	15: 9,600,604 (GRCm39)		probably null	Het
Stxbp2	A	G	8: 3,691,998 (GRCm39)	M547V	probably benign	Het
Vmn2r67	T	C	7: 84,785,900 (GRCm39)	I702V	probably benign	Het
Zmynd15	T	C	11: 70,355,636 (GRCm39)	S436P	probably benign	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
IGL01989:Tmem247	APN	17	87,225,719 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- TCATTGCCTCCAAAGTCCG -3'
(R):5'- TAATCACAGGGGCAGTGGTC -3'

Sequencing Primer
(F):5'- ATGGACCTGGACTGGAGTC -3'
(R):5'- AGTGGTCTCAGGCCATCC -3'

Posted On

2018-07-23