Mutagenetix > Incidental Mutation

Incidental Mutation 'R3051:Tmem51'

264944

Institutional Source

Beutler Lab

Gene Symbol

Tmem51

Ensembl Gene

ENSMUSG00000040616

Gene Name

transmembrane protein 51

Synonyms

MMRRC Submission

040560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3051 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141758303-141811615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141759335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 138 (Y138N)

Ref Sequence

ENSEMBL: ENSMUSP00000042919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036572]

AlphaFold

Q99LG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000036572
AA Change: Y138N

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042919
Gene: ENSMUSG00000040616
AA Change: Y138N

Domain	Start	End	E-Value	Type
Pfam:TMEM51	7	236	5.7e-91	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126231

Meta Mutation Damage Score

0.0684

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	G	A	8: 46,974,374 (GRCm39)	V330I	probably benign	Het
Akap6	T	C	12: 52,933,816 (GRCm39)	L436P	probably damaging	Het
Axin1	A	G	17: 26,409,099 (GRCm39)	T700A	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Ccdc178	T	A	18: 22,268,188 (GRCm39)	M100L	probably benign	Het
Ceacam20	T	A	7: 19,710,110 (GRCm39)	V378E	probably benign	Het
Cwf19l2	G	A	9: 3,410,006 (GRCm39)	R45H	probably benign	Het
Cyp2a5	A	G	7: 26,542,410 (GRCm39)	I471V	possibly damaging	Het
Ddr2	T	C	1: 169,816,024 (GRCm39)	K561R	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Ltf	A	G	9: 110,853,590 (GRCm39)	D280G	probably benign	Het
Nlrc5	A	G	8: 95,203,343 (GRCm39)	E481G	probably benign	Het
Or1e30	A	G	11: 73,678,060 (GRCm39)	T99A	probably benign	Het
Pald1	G	A	10: 61,182,542 (GRCm39)	Q412*	probably null	Het
Ppp4r3c2	G	A	X: 88,797,709 (GRCm39)	V514I	probably damaging	Het
Ptprd	A	G	4: 76,018,867 (GRCm39)	Y649H	probably damaging	Het
R3hcc1l	T	G	19: 42,551,064 (GRCm39)	Y20*	probably null	Het
Rbfox3	G	T	11: 118,393,714 (GRCm39)	A37D	probably damaging	Het
Rpa2	A	G	4: 132,502,437 (GRCm39)		probably null	Het
Ryr1	A	T	7: 28,752,515 (GRCm39)	V3598E	probably damaging	Het
Slc6a7	G	A	18: 61,142,589 (GRCm39)	T41M	probably damaging	Het
Tacc2	G	A	7: 130,227,226 (GRCm39)	E1323K	possibly damaging	Het
Ten1	T	C	11: 116,096,556 (GRCm39)	F70S	possibly damaging	Het
Terf2	A	C	8: 107,806,016 (GRCm39)	L312R	possibly damaging	Het
Tktl1	A	G	X: 73,221,010 (GRCm39)	T39A	probably benign	Het
Trp53bp2	T	C	1: 182,281,347 (GRCm39)	F983L	probably damaging	Het
Trpm1	G	A	7: 63,918,849 (GRCm39)	E730K	probably damaging	Het
Ubxn2a	T	A	12: 4,941,322 (GRCm39)	K95*	probably null	Het
Xpo6	T	C	7: 125,703,893 (GRCm39)	N1086D	probably damaging	Het
Zfp345	T	C	2: 150,316,772 (GRCm39)	N12D	probably benign	Het

Other mutations in Tmem51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02154:Tmem51	APN	4	141,759,089 (GRCm39)	missense	probably damaging	0.98
R0089:Tmem51	UTSW	4	141,759,236 (GRCm39)	missense	probably benign	0.00
R3104:Tmem51	UTSW	4	141,765,035 (GRCm39)	missense	probably damaging	0.99
R3106:Tmem51	UTSW	4	141,765,035 (GRCm39)	missense	probably damaging	0.99
R3873:Tmem51	UTSW	4	141,759,059 (GRCm39)	missense	probably damaging	1.00
R3874:Tmem51	UTSW	4	141,759,059 (GRCm39)	missense	probably damaging	1.00
R4393:Tmem51	UTSW	4	141,759,242 (GRCm39)	missense	probably benign	0.36
R5847:Tmem51	UTSW	4	141,759,346 (GRCm39)	missense	probably damaging	0.98
R7278:Tmem51	UTSW	4	141,764,996 (GRCm39)	frame shift	probably null
R7283:Tmem51	UTSW	4	141,759,094 (GRCm39)	missense	probably damaging	0.99
R7318:Tmem51	UTSW	4	141,764,996 (GRCm39)	frame shift	probably null
R7615:Tmem51	UTSW	4	141,764,875 (GRCm39)	missense	probably damaging	1.00
R8057:Tmem51	UTSW	4	141,759,059 (GRCm39)	missense	probably damaging	1.00
R8409:Tmem51	UTSW	4	141,764,996 (GRCm39)	frame shift	probably null
R8790:Tmem51	UTSW	4	141,765,056 (GRCm39)	start codon destroyed	possibly damaging	0.59
X0025:Tmem51	UTSW	4	141,759,022 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- AGGTGAAGCTTTTCGGATTTAATCC -3'
(R):5'- GCCTGCATATGGTTTGCAGAG -3'

Sequencing Primer
(F):5'- AATCCTTCGAACTTTGAGTGGC -3'
(R):5'- GCAGAGTTGGTATGTGTGAACC -3'

Posted On

2015-02-05