Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02747:Tmem135'

306080

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem135

Ensembl Gene

ENSMUSG00000039428

Gene Name

transmembrane protein 135

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL02747

Quality Score

Status

Chromosome

Chromosomal Location

89139714-89404222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89144670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 388 (I388N)

Ref Sequence

ENSEMBL: ENSMUSP00000042783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041968] [ENSMUST00000117852]

AlphaFold

Q9CYV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041968
AA Change: I388N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042783
Gene: ENSMUSG00000039428
AA Change: I388N

Domain	Start	End	E-Value	Type
Pfam:TMEM135_C_rich	9	142	2.2e-84	PFAM
transmembrane domain	147	169	N/A	INTRINSIC
Pfam:Tim17	249	370	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117852

SMART Domains

Protein: ENSMUSP00000114097
Gene: ENSMUSG00000039428

Domain	Start	End	E-Value	Type
low complexity region	52	65	N/A	INTRINSIC
transmembrane domain	67	89	N/A	INTRINSIC
transmembrane domain	96	115	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	299	321	N/A	INTRINSIC
transmembrane domain	331	353	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207335

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,282	L3373*	probably null	Het
Ap1s3	T	C	1: 79,623,692	Y94C	probably damaging	Het
BC048403	A	C	10: 121,745,550	Q152P	possibly damaging	Het
Dbx2	T	C	15: 95,632,439	T216A	probably benign	Het
Dsg4	A	G	18: 20,446,938	R67G	probably damaging	Het
Eng	G	A	2: 32,672,958		probably null	Het
Gm28042	T	A	2: 120,031,394	I206N	probably damaging	Het
Gsdmc4	C	T	15: 63,893,871	M276I	probably benign	Het
Itih2	A	G	2: 10,097,945	S793P	probably benign	Het
Kcnj13	T	C	1: 87,389,365	N9D	probably benign	Het
Krt78	T	A	15: 101,950,384		probably benign	Het
Megf10	A	G	18: 57,290,493	K985E	probably benign	Het
Naa25	A	G	5: 121,414,605		probably benign	Het
Olfr918	T	C	9: 38,673,084	Y133C	probably benign	Het
Plekhm2	T	C	4: 141,634,272	T307A	possibly damaging	Het
Ppp1cc	A	G	5: 122,174,073	K301E	probably benign	Het
Ralgds	T	C	2: 28,548,110		probably benign	Het
Rccd1	A	T	7: 80,320,490	D126E	probably benign	Het
Reps1	T	C	10: 18,123,600	S712P	probably damaging	Het
Rnf103	T	A	6: 71,509,177	I264N	probably damaging	Het
Rpap1	A	G	2: 119,774,128	I433T	probably damaging	Het
Ryr2	T	G	13: 11,655,677	N3478H	probably damaging	Het
Sox30	A	G	11: 45,980,945	D209G	probably benign	Het
Sox6	A	G	7: 115,489,746	F628S	probably damaging	Het
Tas1r3	C	T	4: 155,860,460	G768D	possibly damaging	Het
Tesk2	T	C	4: 116,802,879	V398A	probably benign	Het
Tpgs2	A	G	18: 25,139,145		probably benign	Het
Vmn2r120	G	A	17: 57,524,719	H357Y	probably benign	Het

Other mutations in Tmem135

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Tmem135	APN	7	89151438	missense	probably damaging	1.00
IGL01730:Tmem135	APN	7	89148044	missense	possibly damaging	0.82
IGL01933:Tmem135	APN	7	89143857	unclassified	probably benign
IGL02177:Tmem135	APN	7	89338453	missense	probably damaging	1.00
IGL02305:Tmem135	APN	7	89165123	critical splice donor site	probably null
IGL02801:Tmem135	APN	7	89154125	missense	probably benign	0.13
IGL03353:Tmem135	APN	7	89141953	missense	probably damaging	1.00
Skim	UTSW	7	89196127	nonsense	probably null
R0631:Tmem135	UTSW	7	89143788	nonsense	probably null
R0657:Tmem135	UTSW	7	89144682	missense	probably damaging	0.96
R2233:Tmem135	UTSW	7	89154074	missense	probably damaging	1.00
R3118:Tmem135	UTSW	7	89147797	missense	probably benign	0.02
R3119:Tmem135	UTSW	7	89147797	missense	probably benign	0.02
R5094:Tmem135	UTSW	7	89143793	missense	probably damaging	1.00
R5225:Tmem135	UTSW	7	89196127	nonsense	probably null
R5248:Tmem135	UTSW	7	89147992	missense	probably damaging	1.00
R5356:Tmem135	UTSW	7	89305515	missense	probably benign	0.06
R5372:Tmem135	UTSW	7	89165174	splice site	probably null
R5442:Tmem135	UTSW	7	89144664	missense	probably damaging	1.00
R5789:Tmem135	UTSW	7	89196122	missense	possibly damaging	0.73
R5863:Tmem135	UTSW	7	89147968	critical splice donor site	probably null
R6158:Tmem135	UTSW	7	89156444	missense	probably benign	0.12
R6383:Tmem135	UTSW	7	89144670	missense	probably damaging	0.98
R6416:Tmem135	UTSW	7	89147794	missense	probably benign
R6659:Tmem135	UTSW	7	89307163	missense	probably benign	0.07
R6659:Tmem135	UTSW	7	89307164	nonsense	probably null
R6731:Tmem135	UTSW	7	89243964	missense	possibly damaging	0.96
R7545:Tmem135	UTSW	7	89305519	missense	probably damaging	1.00
R7626:Tmem135	UTSW	7	89156510	splice site	probably null
R8089:Tmem135	UTSW	7	89156495	missense	probably damaging	0.99
R8447:Tmem135	UTSW	7	89154032	missense	probably damaging	1.00
R8703:Tmem135	UTSW	7	89158962	missense	probably benign	0.00
R8750:Tmem135	UTSW	7	89307248	missense	probably damaging	0.99
R8758:Tmem135	UTSW	7	89305513	missense	probably benign	0.04
R8806:Tmem135	UTSW	7	89147978	missense	probably benign	0.25
R8807:Tmem135	UTSW	7	89147978	missense	probably benign	0.25
R8808:Tmem135	UTSW	7	89147978	missense	probably benign	0.25
R8835:Tmem135	UTSW	7	89147978	missense	probably benign	0.25
R8836:Tmem135	UTSW	7	89147978	missense	probably benign	0.25
R9093:Tmem135	UTSW	7	89147996	missense	probably benign	0.02
R9120:Tmem135	UTSW	7	89147978	missense	probably benign	0.25
R9122:Tmem135	UTSW	7	89147978	missense	probably benign	0.25
R9308:Tmem135	UTSW	7	89147978	missense	probably benign	0.25
R9649:Tmem135	UTSW	7	89147978	missense	probably benign	0.25
R9650:Tmem135	UTSW	7	89147978	missense	probably benign	0.25

Posted On

2015-04-16