Mutagenetix > Incidental Mutation

Incidental Mutation 'R7791:Tmem52b'

599875

Institutional Source

Beutler Lab

Gene Symbol

Tmem52b

Ensembl Gene

ENSMUSG00000030160

Gene Name

transmembrane protein 52B

Synonyms

D630042F21Rik

MMRRC Submission

045847-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129489518-129496190 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 129489966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145486 (fasta)

Gene Model

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

AlphaFold

Q0VBF2

Predicted Effect

probably benign
Transcript: ENSMUST00000032263

SMART Domains

Protein: ENSMUSP00000032263
Gene: ENSMUSG00000030160

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204741

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,508 (GRCm39)	M108K	probably benign	Het
AAdacl4fm3	A	G	4: 144,430,015 (GRCm39)	S325P	probably damaging	Het
Adamts9	A	T	6: 92,849,366 (GRCm39)	V1031D	probably benign	Het
Agap3	C	T	5: 24,681,411 (GRCm39)	R122C	probably damaging	Het
Arhgap27	A	G	11: 103,230,020 (GRCm39)		probably null	Het
Atp1a2	T	A	1: 172,103,782 (GRCm39)	I950F	probably benign	Het
Bahcc1	T	G	11: 120,159,203 (GRCm39)	H143Q	probably damaging	Het
Bcl7b	T	A	5: 135,199,968 (GRCm39)	D40E	probably damaging	Het
C9	C	T	15: 6,519,359 (GRCm39)	R399C	possibly damaging	Het
Capn13	T	C	17: 73,689,883 (GRCm39)	I43V	possibly damaging	Het
Ctcf	A	G	8: 106,391,571 (GRCm39)	T289A	possibly damaging	Het
Cux2	T	C	5: 122,005,162 (GRCm39)	N1008S	probably benign	Het
Dst	T	A	1: 34,193,673 (GRCm39)	M294K	probably damaging	Het
Eml4	G	T	17: 83,781,135 (GRCm39)	D778Y	probably benign	Het
Exoc3l4	A	C	12: 111,389,974 (GRCm39)	D183A	probably damaging	Het
Eya4	A	T	10: 22,989,825 (GRCm39)	S511T	probably damaging	Het
Fbrsl1	T	C	5: 110,595,885 (GRCm39)	H50R	probably benign	Het
Gemin5	G	A	11: 58,015,819 (GRCm39)	P1396S	probably benign	Het
Gnb4	A	G	3: 32,644,192 (GRCm39)	F151L	possibly damaging	Het
Gnptab	A	G	10: 88,276,084 (GRCm39)		probably null	Het
Gpbp1l1	T	A	4: 116,431,617 (GRCm39)	W92R	probably damaging	Het
Gucy1b1	A	T	3: 81,942,704 (GRCm39)	Y479*	probably null	Het
Htr3a	T	A	9: 48,812,875 (GRCm39)	Q188L	possibly damaging	Het
Ighv5-9-1	A	G	12: 113,700,165 (GRCm39)	F18S	probably damaging	Het
Loxhd1	A	G	18: 77,471,425 (GRCm39)	T1004A	probably damaging	Het
Mansc4	G	A	6: 146,983,042 (GRCm39)	L132F	unknown	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mtor	G	T	4: 148,547,397 (GRCm39)	R460L	probably benign	Het
Mtus1	A	T	8: 41,536,417 (GRCm39)	F433Y	possibly damaging	Het
Myoc	T	C	1: 162,476,690 (GRCm39)	Y465H	probably damaging	Het
N4bp1	A	G	8: 87,579,831 (GRCm39)	V657A	probably damaging	Het
Ndufv1	A	T	19: 4,061,533 (GRCm39)		probably null	Het
Nectin1	T	C	9: 43,703,336 (GRCm39)	I198T	probably benign	Het
Or10h1	T	A	17: 33,418,326 (GRCm39)	C101*	probably null	Het
Or8g20	T	C	9: 39,396,177 (GRCm39)	D124G	probably damaging	Het
Padi2	C	T	4: 140,644,907 (GRCm39)	T47I	probably benign	Het
Pdia4	A	T	6: 47,784,056 (GRCm39)	I116N	probably damaging	Het
Pkdrej	T	A	15: 85,700,132 (GRCm39)	I1935L	possibly damaging	Het
Pnpla7	C	A	2: 24,942,078 (GRCm39)	A1173D	probably damaging	Het
Ralgapa1	A	T	12: 55,788,304 (GRCm39)	L593Q	probably damaging	Het
Scn5a	A	G	9: 119,372,402 (GRCm39)	S231P	possibly damaging	Het
Slc13a2	A	G	11: 78,312,890 (GRCm39)		probably null	Het
Spdl1	A	G	11: 34,704,304 (GRCm39)	S510P	possibly damaging	Het
Tbxa2r	G	T	10: 81,170,540 (GRCm39)	*342L	probably null	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Tsc1	T	C	2: 28,571,960 (GRCm39)	F844L	probably damaging	Het
Ttc39a	A	G	4: 109,283,544 (GRCm39)	N158S	probably benign	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Vgf	T	C	5: 137,060,885 (GRCm39)	L349P	unknown	Het
Vil1	T	C	1: 74,467,295 (GRCm39)	Y681H	probably damaging	Het
Zfp654	A	G	16: 64,603,634 (GRCm39)	*572R	probably null	Het

Other mutations in Tmem52b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Tmem52b	APN	6	129,493,678 (GRCm39)	missense	probably damaging	1.00
IGL00792:Tmem52b	APN	6	129,493,704 (GRCm39)	missense	probably damaging	1.00
R4475:Tmem52b	UTSW	6	129,491,219 (GRCm39)	missense	probably benign	0.01
R5249:Tmem52b	UTSW	6	129,491,221 (GRCm39)	critical splice donor site	probably null
R6815:Tmem52b	UTSW	6	129,493,705 (GRCm39)	critical splice donor site	probably null
R7238:Tmem52b	UTSW	6	129,493,651 (GRCm39)	missense	probably damaging	1.00
R7577:Tmem52b	UTSW	6	129,493,040 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCTTCTTGAATGCAGACGAAG -3'
(R):5'- TCCTCCTAGAGACAGCATAGC -3'

Sequencing Primer
(F):5'- GGAAGCCAATGTGGAGACCC -3'
(R):5'- TCCTCCTAGAGACAGCATAGCTAAAG -3'

Posted On

2019-11-26