Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02154:Tmem51'

282152

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem51

Ensembl Gene

ENSMUSG00000040616

Gene Name

transmembrane protein 51

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02154

Quality Score

Status

Chromosome

Chromosomal Location

141758303-141811615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141759089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 220 (N220D)

Ref Sequence

ENSEMBL: ENSMUSP00000042919 (fasta)

Gene Model

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

AlphaFold

Q99LG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000036572
AA Change: N220D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042919
Gene: ENSMUSG00000040616
AA Change: N220D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126231

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Armh4	G	A	14: 50,010,399 (GRCm39)	T436I	possibly damaging	Het
AW551984	G	A	9: 39,500,398 (GRCm39)	R787C	possibly damaging	Het
Cadm1	A	T	9: 47,725,201 (GRCm39)	I321L	probably benign	Het
Cfap57	A	G	4: 118,470,214 (GRCm39)	L222P	probably damaging	Het
Cox20	A	G	1: 178,150,119 (GRCm39)	I98V	probably benign	Het
Dmrta1	A	G	4: 89,580,150 (GRCm39)	N370S	probably benign	Het
Dnah17	A	G	11: 118,015,087 (GRCm39)	F386L	probably benign	Het
Fam135b	T	C	15: 71,320,559 (GRCm39)	I1323V	probably benign	Het
Fndc3b	A	G	3: 27,592,266 (GRCm39)	S211P	probably damaging	Het
Galnt10	T	G	11: 57,675,531 (GRCm39)	L597V	probably damaging	Het
Gtf2e2	T	C	8: 34,245,989 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,696,130 (GRCm39)		probably benign	Het
Irag2	T	G	6: 145,083,967 (GRCm39)	M44R	possibly damaging	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Mdn1	A	G	4: 32,740,395 (GRCm39)	D3750G	probably benign	Het
Mme	A	T	3: 63,250,976 (GRCm39)	Q339L	probably benign	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Myrf	A	T	19: 10,193,482 (GRCm39)	I558N	probably damaging	Het
Or52e8	C	T	7: 104,625,188 (GRCm39)	M1I	probably null	Het
Phb1	A	G	11: 95,565,997 (GRCm39)	I94V	possibly damaging	Het
Prg4	T	A	1: 150,330,613 (GRCm39)		probably benign	Het
Sirpb1a	T	C	3: 15,475,504 (GRCm39)	T344A	probably damaging	Het
Skap2	T	C	6: 51,989,308 (GRCm39)		probably benign	Het
Slc29a1	A	G	17: 45,897,089 (GRCm39)	I399T	probably damaging	Het
Sorl1	C	T	9: 41,915,330 (GRCm39)	V1300I	probably benign	Het
Tas2r117	T	C	6: 132,780,678 (GRCm39)	V272A	probably benign	Het
Tctn2	C	A	5: 124,746,624 (GRCm39)		noncoding transcript	Het
Trak2	T	C	1: 58,947,888 (GRCm39)	D584G	probably damaging	Het
Vmn1r78	A	G	7: 11,886,472 (GRCm39)	I28V	probably benign	Het
Vmn2r95	A	C	17: 18,672,248 (GRCm39)	I662L	probably benign	Het
Vwa8	C	A	14: 79,086,733 (GRCm39)	R4S	possibly damaging	Het

Other mutations in Tmem51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0089:Tmem51	UTSW	4	141,759,236 (GRCm39)	missense	probably benign	0.00
R3051:Tmem51	UTSW	4	141,759,335 (GRCm39)	missense	probably damaging	0.96
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

Posted On

2015-04-16