Mutagenetix > Incidental Mutation

Incidental Mutation 'R6731:Tmem135'

530061

Institutional Source

Beutler Lab

Gene Symbol

Tmem135

Ensembl Gene

ENSMUSG00000039428

Gene Name

transmembrane protein 135

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R6731 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89139714-89404222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89243964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 140 (M140K)

Ref Sequence

ENSEMBL: ENSMUSP00000042783 (fasta)

Gene Model

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

AlphaFold

Q9CYV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041968
AA Change: M140K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042783
Gene: ENSMUSG00000039428
AA Change: M140K

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

possibly damaging
Transcript: ENSMUST00000117852
AA Change: M140K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114097
Gene: ENSMUSG00000039428
AA Change: M140K

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: ENSMUST00000124477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139320

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	G	17: 33,066,226	V534A	probably benign	Het
Acta1	G	A	8: 123,893,217	T128I	probably damaging	Het
Ahnak	T	A	19: 9,011,562	D3403E	possibly damaging	Het
Aldoc	T	A	11: 78,326,092	D319E	probably benign	Het
Ank3	T	A	10: 70,014,028	D1108E	possibly damaging	Het
Ankrd7	G	A	6: 18,866,654	G58S	probably damaging	Het
Ass1	A	T	2: 31,514,784	Y359F	probably damaging	Het
B3gnt2	G	T	11: 22,836,888	S100*	probably null	Het
Cd46	T	C	1: 195,083,467		probably null	Het
Chst5	G	T	8: 111,890,044	R315S	probably benign	Het
Cps1	T	C	1: 67,160,871	S393P	probably damaging	Het
Dis3l	T	C	9: 64,310,438		probably null	Het
Fgg	T	C	3: 83,012,901	F329S	probably damaging	Het
Hsp90b1	T	C	10: 86,701,905	T179A	probably benign	Het
Kat2a	A	T	11: 100,708,273	M559K	probably damaging	Het
Klhl41	T	C	2: 69,674,700	I449T	probably damaging	Het
Lama5	A	T	2: 180,188,574	I1880N	probably benign	Het
Lcp1	A	G	14: 75,206,189	D215G	probably damaging	Het
Lrch3	A	G	16: 32,950,420	T131A	probably damaging	Het
Mroh6	T	C	15: 75,888,492	T78A	probably benign	Het
Naa15	T	G	3: 51,455,873	V326G	probably damaging	Het
Nalcn	T	A	14: 123,599,934	Q6L	probably benign	Het
Nipbl	T	A	15: 8,322,590	I1863L	probably damaging	Het
Os9	C	T	10: 127,098,543	G408D	probably benign	Het
Pcbp2	T	C	15: 102,488,790	S237P	probably damaging	Het
Pcdhb10	G	A	18: 37,413,476	R535H	probably benign	Het
Pex5l	A	T	3: 32,958,798	I320K	probably damaging	Het
Pgm1	T	C	5: 64,100,975	F101S	probably benign	Het
Poc1b	T	A	10: 99,152,871	D207E	probably null	Het
Pou6f1	T	C	15: 100,579,883	I460V	possibly damaging	Het
Rnf17	A	T	14: 56,524,350	Q1623H	possibly damaging	Het
Rnf219	C	T	14: 104,479,474	V488I	probably benign	Het
Rpap1	T	C	2: 119,778,296	N195S	probably benign	Het
Sacs	C	A	14: 61,180,700		probably null	Het
Scube2	G	A	7: 109,810,737	T643M	probably damaging	Het
Sele	C	T	1: 164,053,673	L481F	probably damaging	Het
Stk32a	A	G	18: 43,305,078	Y214C	probably damaging	Het
Tex44	T	A	1: 86,426,485	S39T	probably benign	Het
Tox2	A	G	2: 163,320,377	Y354C	probably damaging	Het
Trim21	A	T	7: 102,559,212	F433L	probably damaging	Het
Trim24	T	C	6: 37,943,485	F406L	probably damaging	Het
Ubr1	G	C	2: 120,955,640	H166Q	probably null	Het
Wnt16	T	A	6: 22,297,892	Y252*	probably null	Het
Yod1	G	A	1: 130,717,538	G19S	probably damaging	Het
Zfp141	T	C	7: 42,489,500	D36G	probably damaging	Het
Zfp729a	C	T	13: 67,620,146	V655I	probably benign	Het
Zfp974	A	T	7: 27,911,649	V217E	possibly damaging	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
IGL02747:Tmem135	APN	7	89144670	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- TCTAGTGCAATGCTCTGCTAG -3'
(R):5'- TGTTTAAAGCCCGGAGCCTG -3'

Sequencing Primer
(F):5'- CTCTGCTAGCACTAGGGAGAAGC -3'
(R):5'- AGCCTGAAAGCTGCATTCTG -3'

Posted On

2018-08-01