Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00743:Tmem52b'

14498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem52b

Ensembl Gene

ENSMUSG00000030160

Gene Name

transmembrane protein 52B

Synonyms

D630042F21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL00743

Quality Score

Status

Chromosome

Chromosomal Location

129512555-129519227 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129516715 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 97 (D97G)

Ref Sequence

ENSEMBL: ENSMUSP00000032263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032263] [ENSMUST00000204741]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032263
AA Change: D97G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032263
Gene: ENSMUSG00000030160
AA Change: D97G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:TMEM52	30	166	1.9e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204692

Predicted Effect

probably benign
Transcript: ENSMUST00000204741

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,619,686	E659G	probably benign	Het
Adgrg6	A	C	10: 14,535,959		probably benign	Het
Als2cl	A	G	9: 110,889,159	K323E	possibly damaging	Het
Atm	A	C	9: 53,513,116	S628R	probably benign	Het
Baz2a	T	C	10: 128,114,526	V443A	probably benign	Het
Bclaf3	T	A	X: 159,558,361	F545Y	probably benign	Het
Calcr	T	C	6: 3,717,196	Y88C	probably damaging	Het
Ccdc178	C	T	18: 22,145,444		probably benign	Het
Cdh20	A	G	1: 104,947,428	T312A	probably benign	Het
Chrnd	G	A	1: 87,192,927	W91*	probably null	Het
Cntln	T	C	4: 84,979,415	F413S	probably benign	Het
Ctsq	A	T	13: 61,036,184	I308N	probably damaging	Het
Cyp2d34	A	T	15: 82,617,535	V258D	probably damaging	Het
Dnajc13	G	A	9: 104,162,780	P2044S	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Hps6	A	T	19: 46,003,660	D12V	probably damaging	Het
Hpse	T	C	5: 100,698,999	D188G	probably benign	Het
Id2	C	A	12: 25,095,356	E123*	probably null	Het
Ints10	C	T	8: 68,819,333	P562L	probably damaging	Het
Kctd10	G	A	5: 114,367,349	R195C	probably damaging	Het
Kel	A	C	6: 41,688,575	L537R	probably damaging	Het
Kif19a	T	C	11: 114,784,773	V357A	probably damaging	Het
Lrrtm3	A	T	10: 64,089,209	S60T	probably damaging	Het
Myof	C	A	19: 37,960,934	R608L	probably benign	Het
Naa35	A	T	13: 59,630,671	I669F	probably benign	Het
Olfr968	A	G	9: 39,772,111	S230P	possibly damaging	Het
Olfr971	A	T	9: 39,839,706	I91F	probably benign	Het
Pclo	G	T	5: 14,678,021		probably benign	Het
Pik3c3	C	T	18: 30,274,364	S55F	probably damaging	Het
Prdm6	T	G	18: 53,540,228	D153E	possibly damaging	Het
Rnf183	T	C	4: 62,428,373	T63A	probably benign	Het
Samd4b	A	C	7: 28,401,877	I108S	probably damaging	Het
Slc9a7	T	C	X: 20,106,021	D708G	possibly damaging	Het
Stim2	A	G	5: 54,053,493	D90G	probably benign	Het
Tnfsf15	T	C	4: 63,734,281	R98G	probably benign	Het
Uxs1	C	T	1: 43,757,013	V310I	probably benign	Het
Vcan	A	C	13: 89,725,306	M143R	probably damaging	Het
Vmn2r93	T	C	17: 18,326,242	F792S	probably damaging	Het
Zfp455	T	C	13: 67,207,898	I345T	probably benign	Het
Zfp938	A	T	10: 82,226,483	M101K	probably benign	Het
Zkscan2	A	G	7: 123,479,972	S921P	probably damaging	Het

Other mutations in Tmem52b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Tmem52b	APN	6	129516741	missense	probably damaging	1.00
R4475:Tmem52b	UTSW	6	129514256	missense	probably benign	0.01
R5249:Tmem52b	UTSW	6	129514258	critical splice donor site	probably null
R6815:Tmem52b	UTSW	6	129516742	critical splice donor site	probably null
R7238:Tmem52b	UTSW	6	129516688	missense	probably damaging	1.00
R7577:Tmem52b	UTSW	6	129516077	nonsense	probably null
R7791:Tmem52b	UTSW	6	129513003	start gained	probably benign

Posted On

2012-12-06