Mutagenetix > Incidental Mutations

Incidental Mutation 'R6688:Tmem252'

527879

Institutional Source

Beutler Lab

Gene Symbol

Tmem252

Ensembl Gene

ENSMUSG00000048572

Gene Name

transmembrane protein 252

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6688 (G1)

Quality Score

126.008

Status

Validated

Chromosome

Chromosomal Location

24674008-24679661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24674099 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 11 (A11T)

Ref Sequence

ENSEMBL: ENSMUSP00000060863 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057243
AA Change: A11T

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060863
Gene: ENSMUSG00000048572
AA Change: A11T

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

Meta Mutation Damage Score

0.1655

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn1	A	T	13: 45,567,671	H249Q	probably damaging	Het
Cd22	A	C	7: 30,872,964	S362A	possibly damaging	Het
Cep120	G	A	18: 53,724,536	P286S	probably benign	Het
Ces1g	G	A	8: 93,306,972	P441S	possibly damaging	Het
Ces2h	A	G	8: 105,017,840	I316V	probably benign	Het
Cntnap5c	T	A	17: 58,293,904	D747E	possibly damaging	Het
Cwf19l2	T	C	9: 3,450,015	V572A	probably benign	Het
Cyb5rl	C	T	4: 107,073,905	A128V	probably damaging	Het
Dnttip1	T	C	2: 164,765,161	Y241H	probably damaging	Het
Gm2381	G	A	7: 42,820,586	A38V	probably benign	Het
Golga4	A	G	9: 118,514,210	T11A	possibly damaging	Het
Ip6k2	C	A	9: 108,806,011	T440K	probably benign	Het
Kif5c	A	G	2: 49,688,737	N126D	probably benign	Het
Mdn1	T	A	4: 32,774,041	F5551I	possibly damaging	Het
Myh11	A	G	16: 14,205,553	L1587P	probably damaging	Het
Nop53	A	G	7: 15,945,854	V67A	possibly damaging	Het
Olfr107	G	A	17: 37,405,905	R119H	probably benign	Het
Paxip1	T	C	5: 27,744,137	T1045A	probably benign	Het
Pdzd3	C	T	9: 44,248,230		probably null	Het
Plg	A	T	17: 12,391,845	H215L	probably damaging	Het
Psmb5	C	A	14: 54,616,673	R116L	probably damaging	Het
Rapgef2	T	A	3: 79,069,128	Q1307L	probably benign	Het
Serpini2	T	C	3: 75,259,563	E129G	possibly damaging	Het
Stx1b	C	T	7: 127,807,896	R209Q	probably damaging	Het
Tcf20	A	G	15: 82,854,535	I905T	possibly damaging	Het
Tpst2	A	G	5: 112,307,757	N54S	probably benign	Het
Usp31	T	C	7: 121,678,330	S269G	probably benign	Het
Wasf1	T	C	10: 40,926,620		probably null	Het
Zfp429	A	T	13: 67,396,130	V58D	probably damaging	Het
Zfp958	A	G	8: 4,628,940	T322A	possibly damaging	Het

Other mutations in Tmem252

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2079:Tmem252	UTSW	19	24677653	missense	probably benign	0.09
R2269:Tmem252	UTSW	19	24674091	missense	probably benign	0.25
R4419:Tmem252	UTSW	19	24677546	missense	probably damaging	1.00
R5241:Tmem252	UTSW	19	24674127	missense	probably benign	0.20
R5974:Tmem252	UTSW	19	24674268	missense	probably benign	0.00
R7008:Tmem252	UTSW	19	24674292	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCCTGGAGGATGTTACAGTAACTTC -3'
(R):5'- TGAGCACGTGGTTGAACATC -3'

Sequencing Primer
(F):5'- CCAGTGGTTAATGAATAGCTTCCCG -3'
(R):5'- AGCACGTGGTTGAACATCTCTTTG -3'

Posted On

2018-07-23