Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02229:Tmem242'

285421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem242

Ensembl Gene

ENSMUSG00000004945

Gene Name

transmembrane protein 242

Synonyms

2310046K16Rik, 5730437N04Rik, 1110008A10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL02229

Quality Score

Status

Chromosome

Chromosomal Location

5461145-5490534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5461682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 129 (S129T)

Ref Sequence

ENSEMBL: ENSMUSP00000005053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005053]

AlphaFold

Q8VCR3

Predicted Effect

probably benign
Transcript: ENSMUST00000005053
AA Change: S129T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000005053
Gene: ENSMUSG00000004945
AA Change: S129T

Domain	Start	End	E-Value	Type
Pfam:DUF1358	9	123	2.9e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190732

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190865

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,696 (GRCm39)	D144G	probably damaging	Het
Adgrg1	G	T	8: 95,730,139 (GRCm39)	D114Y	probably damaging	Het
Ago4	T	A	4: 126,405,325 (GRCm39)	N416I	probably benign	Het
Aoc1	C	T	6: 48,882,843 (GRCm39)	Q240*	probably null	Het
Atl1	G	A	12: 69,972,799 (GRCm39)	V40I	probably benign	Het
Cdh2	T	C	18: 16,757,810 (GRCm39)	I591V	probably benign	Het
Cic	C	A	7: 24,990,375 (GRCm39)	Q1959K	probably damaging	Het
Cmya5	C	T	13: 93,229,194 (GRCm39)	E1965K	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cspp1	T	C	1: 10,153,781 (GRCm39)	S397P	probably damaging	Het
D130043K22Rik	T	C	13: 25,059,907 (GRCm39)	Y593H	probably damaging	Het
Dck	A	G	5: 88,921,964 (GRCm39)	Y142C	probably damaging	Het
Eea1	A	T	10: 95,854,046 (GRCm39)	E568V	probably damaging	Het
Gabra3	A	G	X: 71,544,683 (GRCm39)		probably null	Het
Gucy2f	A	G	X: 140,962,984 (GRCm39)	S342P	probably benign	Het
Hbb-bh1	T	A	7: 103,492,032 (GRCm39)	I61F	possibly damaging	Het
Hook1	T	C	4: 95,889,488 (GRCm39)	S235P	possibly damaging	Het
Hoxd12	G	A	2: 74,506,278 (GRCm39)	R230H	probably damaging	Het
Iglc2	C	T	16: 19,017,483 (GRCm39)	A41T	probably benign	Het
Il1r1	A	G	1: 40,352,518 (GRCm39)	K566E	probably damaging	Het
Kcns3	A	T	12: 11,142,093 (GRCm39)	M202K	probably damaging	Het
Krt7	C	A	15: 101,325,497 (GRCm39)	A442D	probably benign	Het
Ltk	C	T	2: 119,589,054 (GRCm39)	R200H	probably benign	Het
Macf1	G	T	4: 123,403,619 (GRCm39)	D582E	probably damaging	Het
Mbnl3	A	T	X: 50,228,218 (GRCm39)	Y69N	probably damaging	Het
Mpp1	T	C	X: 74,165,034 (GRCm39)		probably benign	Het
Myo18b	A	G	5: 113,025,976 (GRCm39)	S25P	unknown	Het
Nsd3	A	G	8: 26,200,775 (GRCm39)	N1289S	probably damaging	Het
Or8d1	T	A	9: 38,766,712 (GRCm39)	M118K	possibly damaging	Het
Pacs2	A	G	12: 113,020,420 (GRCm39)		probably benign	Het
Rab3gap2	A	G	1: 184,991,580 (GRCm39)	K689E	possibly damaging	Het
Sva	T	A	6: 42,019,156 (GRCm39)	C109S	probably damaging	Het
Taf3	T	C	2: 9,957,645 (GRCm39)	N174S	probably damaging	Het
Tbc1d5	A	T	17: 51,159,628 (GRCm39)	M393K	probably damaging	Het
Ttn	A	T	2: 76,701,513 (GRCm39)		probably benign	Het

Other mutations in Tmem242

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1954:Tmem242	UTSW	17	5,489,854 (GRCm39)	missense	possibly damaging	0.58
R2259:Tmem242	UTSW	17	5,483,745 (GRCm39)	missense	probably damaging	0.97
R2260:Tmem242	UTSW	17	5,483,745 (GRCm39)	missense	probably damaging	0.97
R6777:Tmem242	UTSW	17	5,483,830 (GRCm39)	missense	probably damaging	1.00
R7966:Tmem242	UTSW	17	5,461,711 (GRCm39)	missense	probably benign	0.21

Posted On

2015-04-16