Mutagenetix > Incidental Mutation

Incidental Mutation 'R5094:Tmem135'

387987

Institutional Source

Beutler Lab

Gene Symbol

Tmem135

Ensembl Gene

ENSMUSG00000039428

Gene Name

transmembrane protein 135

Synonyms

MMRRC Submission

042683-MU

Accession Numbers

Essential gene?

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

Stock #

R5094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89139714-89404222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89143793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 411 (L411P)

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: L411P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042783
Gene: ENSMUSG00000039428
AA Change: L411P

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

Meta Mutation Damage Score

0.7511

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

91% (40/44)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	T	15: 82,062,682	G260V	possibly damaging	Het
Agap3	T	C	5: 24,451,321		probably benign	Het
Bicra	A	G	7: 15,975,371	S1173P	probably damaging	Het
C3	A	T	17: 57,225,033		probably null	Het
Cdh18	G	A	15: 22,714,539		probably benign	Het
Cep290	A	G	10: 100,567,030	K2274E	probably damaging	Het
Cfap54	T	C	10: 92,898,999		probably benign	Het
Chat	T	A	14: 32,408,939	I582F	probably damaging	Het
Chrnb4	T	C	9: 55,035,313	I226V	probably benign	Het
Dnajc2	T	C	5: 21,776,732	T139A	probably damaging	Het
Eml1	T	C	12: 108,536,311	F712S	probably benign	Het
Fgfr1	C	T	8: 25,570,165	S524L	probably damaging	Het
Gimap3	T	C	6: 48,765,372	E208G	probably damaging	Het
Gm12185	T	A	11: 48,907,548	D706V	probably benign	Het
Gucy1a2	T	A	9: 3,865,443	V639D	probably damaging	Het
Hivep2	T	C	10: 14,132,149	F1497S	probably benign	Het
Hunk	A	G	16: 90,496,666	D612G	probably benign	Het
Ifit3b	T	A	19: 34,612,548	S375T	possibly damaging	Het
Mucl1	A	G	15: 103,755,403	S13P	possibly damaging	Het
Olfr1051	T	A	2: 86,276,040	Y149F	probably damaging	Het
Olfr1135	C	T	2: 87,671,830	C179Y	possibly damaging	Het
Pah	T	A	10: 87,538,219	Y78*	probably null	Het
Pex13	A	G	11: 23,655,441	V263A	probably benign	Het
Pfdn2	T	A	1: 171,356,499		probably benign	Het
Phip	C	T	9: 82,871,844	V1616I	probably benign	Het
Pigg	A	G	5: 108,336,257	S457G	possibly damaging	Het
Ppp1r13b	A	G	12: 111,843,610	S97P	probably benign	Het
Slc22a6	T	C	19: 8,626,177	L535P	probably damaging	Het
Slc5a1	A	G	5: 33,158,280	T548A	probably damaging	Het
Smtnl2	T	A	11: 72,400,385	S346C	probably damaging	Het
Spata31d1a	A	G	13: 59,705,044		probably null	Het
Tlcd2	T	C	11: 75,469,814	S228P	probably benign	Het
Tnrc6c	T	C	11: 117,721,046	V170A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGGTGAGCACATTAATCTAG -3'
(R):5'- AACGGCCATTCATGCTTCCTG -3'

Sequencing Primer
(F):5'- AAGAACATTCCCTCAGGG -3'
(R):5'- GGCCATTCATGCTTCCTGATAAAG -3'

Posted On

2016-06-06