Mutagenetix > Incidental Mutation

Incidental Mutation 'R5241:Tmem252'

400874

Institutional Source

Beutler Lab

Gene Symbol

Tmem252

Ensembl Gene

ENSMUSG00000048572

Gene Name

transmembrane protein 252

Synonyms

E030010A14Rik

MMRRC Submission

042812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5241 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

24651372-24657025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24651491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 20 (M20T)

Ref Sequence

ENSEMBL: ENSMUSP00000060863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057243]

AlphaFold

Q8C353

Predicted Effect

probably benign
Transcript: ENSMUST00000057243
AA Change: M20T

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060863
Gene: ENSMUSG00000048572
AA Change: M20T

Domain	Start	End	E-Value	Type
Pfam:TMEM252	28	166	5.2e-73	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930033H14Rik	A	G	10: 69,048,581 (GRCm39)		probably null	Het
Adgrb3	T	C	1: 25,150,871 (GRCm39)	T881A	possibly damaging	Het
Adgrv1	A	T	13: 81,637,048 (GRCm39)	C3464*	probably null	Het
Afp	A	G	5: 90,649,473 (GRCm39)	M347V	probably benign	Het
Apc2	A	G	10: 80,148,068 (GRCm39)	T1041A	probably benign	Het
Atl1	T	C	12: 70,005,887 (GRCm39)	S398P	possibly damaging	Het
Atp8b4	G	A	2: 126,225,646 (GRCm39)	P528L	probably benign	Het
Bahcc1	C	A	11: 120,162,229 (GRCm39)	P176T	probably damaging	Het
Bsnd	A	G	4: 106,345,182 (GRCm39)	V88A	probably benign	Het
Dnah7c	T	A	1: 46,569,660 (GRCm39)	F687Y	probably benign	Het
Dok6	T	C	18: 89,616,913 (GRCm39)	I23M	possibly damaging	Het
Fcgbp	A	T	7: 27,784,624 (GRCm39)	D228V	probably damaging	Het
Gatad2a	G	A	8: 70,370,667 (GRCm39)	Q107*	probably null	Het
Glis3	G	T	19: 28,327,423 (GRCm39)	T663K	probably benign	Het
Gm10784	T	A	13: 50,099,129 (GRCm39)		noncoding transcript	Het
Gsdmc2	C	T	15: 63,696,743 (GRCm39)	R476H	probably benign	Het
Gsdmc3	A	G	15: 63,735,995 (GRCm39)	S202P	possibly damaging	Het
Map3k8	T	C	18: 4,340,750 (GRCm39)	E188G	probably damaging	Het
Mccc1	T	A	3: 36,028,345 (GRCm39)	Q487L	probably benign	Het
Msantd1	A	G	5: 35,078,813 (GRCm39)	D116G	probably damaging	Het
Myh1	T	A	11: 67,095,275 (GRCm39)	S212T	probably benign	Het
Nr1h4	A	G	10: 89,319,351 (GRCm39)	Y158H	probably damaging	Het
Or4p19	T	C	2: 88,242,442 (GRCm39)	T187A	possibly damaging	Het
Or51f1e	T	C	7: 102,747,524 (GRCm39)	V192A	probably benign	Het
Or6k8-ps1	T	A	1: 173,979,667 (GRCm39)	I195N	probably benign	Het
Pcnt	A	T	10: 76,269,451 (GRCm39)	H272Q	probably benign	Het
Pdia5	T	C	16: 35,250,145 (GRCm39)	N242S	probably benign	Het
Pkd1l2	A	T	8: 117,761,857 (GRCm39)	D1441E	probably damaging	Het
Runx2	G	T	17: 44,950,664 (GRCm39)	Y203*	probably null	Het
Sdr9c7	T	G	10: 127,745,659 (GRCm39)	I257S	probably benign	Het
Slitrk1	A	G	14: 109,150,444 (GRCm39)	M89T	probably benign	Het
St14	G	T	9: 31,011,714 (GRCm39)	C397*	probably null	Het
Tas2r123	T	C	6: 132,824,181 (GRCm39)	I26T	probably benign	Het
Tmem144	A	T	3: 79,721,431 (GRCm39)	M329K	probably benign	Het
Umodl1	T	C	17: 31,203,066 (GRCm39)	V473A	probably benign	Het
Wdr70	A	G	15: 8,108,700 (GRCm39)	C149R	probably benign	Het
Xirp2	C	T	2: 67,312,704 (GRCm39)	R58*	probably null	Het
Zer1	A	C	2: 29,994,982 (GRCm39)	L471R	probably damaging	Het
Zfp101	C	T	17: 33,601,210 (GRCm39)	C182Y	probably benign	Het

Other mutations in Tmem252

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2079:Tmem252	UTSW	19	24,655,017 (GRCm39)	missense	probably benign	0.09
R2269:Tmem252	UTSW	19	24,651,455 (GRCm39)	missense	probably benign	0.25
R4419:Tmem252	UTSW	19	24,654,910 (GRCm39)	missense	probably damaging	1.00
R5974:Tmem252	UTSW	19	24,651,632 (GRCm39)	missense	probably benign	0.00
R6688:Tmem252	UTSW	19	24,651,463 (GRCm39)	missense	probably benign	0.32
R7008:Tmem252	UTSW	19	24,651,656 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTTCAAAGGCCATTTGTTCCTG -3'
(R):5'- CAGCACGTACCTGTCTACAGTG -3'

Sequencing Primer
(F):5'- CCTGTATATAAGGCTGTGACCTGGC -3'
(R):5'- TACCTGTCTACAGTGGCCAG -3'

Posted On

2016-07-06