Mutagenetix > Incidental Mutation

Incidental Mutation 'R2306:Tmem247'

244605

Institutional Source

Beutler Lab

Gene Symbol

Tmem247

Ensembl Gene

ENSMUSG00000037689

Gene Name

transmembrane protein 247

Synonyms

1700090G07Rik

MMRRC Submission

040305-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R2306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87224776-87229795 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87225869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 103 (A103E)

Ref Sequence

ENSEMBL: ENSMUSP00000039338 (fasta)

Gene Model

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

AlphaFold

Q497K7

Predicted Effect

probably benign
Transcript: ENSMUST00000042172
AA Change: A103E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000039338
Gene: ENSMUSG00000037689
AA Change: A103E

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

Predicted Effect

unknown
Transcript: ENSMUST00000202221
AA Change: A11E

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	G	A	17: 43,024,010 (GRCm39)	H154Y	possibly damaging	Het
Arhgef7	T	A	8: 11,862,680 (GRCm39)	Y501*	probably null	Het
Atmin	T	C	8: 117,684,389 (GRCm39)	F683S	probably benign	Het
Bcat1	A	G	6: 144,953,379 (GRCm39)	V403A	probably damaging	Het
C4b	T	G	17: 34,947,492 (GRCm39)	M1729L	probably benign	Het
Cdh23	A	G	10: 60,159,224 (GRCm39)	S2185P	probably damaging	Het
Crispld2	T	G	8: 120,752,810 (GRCm39)	V286G	probably damaging	Het
Ctsw	T	C	19: 5,517,010 (GRCm39)		probably null	Het
Dnai1	T	C	4: 41,625,239 (GRCm39)	V401A	probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Ifitm2	T	A	7: 140,535,702 (GRCm39)	T43S	probably damaging	Het
Mark1	A	T	1: 184,633,058 (GRCm39)		probably benign	Het
Mme	A	G	3: 63,207,673 (GRCm39)	I40V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nfatc2	A	C	2: 168,432,023 (GRCm39)	F30C	probably damaging	Het
Npr2	T	A	4: 43,633,609 (GRCm39)	V251D	probably damaging	Het
Pax8	T	A	2: 24,333,057 (GRCm39)	Y96F	probably damaging	Het
Ppp1r13b	T	C	12: 111,811,327 (GRCm39)	E187G	probably damaging	Het
Rbp3	A	T	14: 33,684,520 (GRCm39)	D1183V	probably damaging	Het
Reln	T	G	5: 22,101,784 (GRCm39)	D3382A	probably damaging	Het
Rfc3	A	G	5: 151,567,243 (GRCm39)	L271P	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sdk1	C	T	5: 141,948,455 (GRCm39)	A600V	probably benign	Het
Sfr1	T	C	19: 47,723,291 (GRCm39)	I265T	probably damaging	Het
Syt13	G	A	2: 92,771,312 (GRCm39)	R133H	probably benign	Het
Tmem231	A	T	8: 112,645,503 (GRCm39)	V132D	probably damaging	Het
Unc119b	A	T	5: 115,263,534 (GRCm39)	Y223*	probably null	Het
Vmn1r196	T	A	13: 22,477,473 (GRCm39)	F37L	probably benign	Het
Vps13c	T	A	9: 67,895,275 (GRCm39)	Y3627N	probably damaging	Het
Zfp292	C	A	4: 34,809,468 (GRCm39)	S1192I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGAACTGCCTACCCTGGAAG -3'
(R):5'- TGATGCTCACCACCTCTCAG -3'

Sequencing Primer
(F):5'- TGCCTACCCTGGAAGAGAACG -3'
(R):5'- GATGCATAGCCAAGCCAGTACAG -3'

Posted On

2014-10-30