Mutagenetix > Incidental Mutation

Incidental Mutation 'R2233:Tmem135'

240178

Institutional Source

Beutler Lab

Gene Symbol

Tmem135

Ensembl Gene

ENSMUSG00000039428

Gene Name

transmembrane protein 135

Synonyms

MMRRC Submission

040234-MU

Accession Numbers

Essential gene?

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

Stock #

R2233 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89139714-89404222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89154074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 297 (N297S)

Ref Sequence

ENSEMBL: ENSMUSP00000114097 (fasta)

Gene Model

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

AlphaFold

Q9CYV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041968
AA Change: N297S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042783
Gene: ENSMUSG00000039428
AA Change: N297S

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 damaging
Transcript: ENSMUST00000117852
AA Change: N297S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114097
Gene: ENSMUSG00000039428
AA Change: N297S

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: ENSMUST00000136267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156153

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,545,512	I360V	probably benign	Het
Adarb1	A	G	10: 77,317,349	V322A	probably damaging	Het
Atad2b	T	G	12: 5,006,745	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,869,916	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,451,525	I1214V	probably benign	Het
Chrm4	A	G	2: 91,928,530	S428G	probably benign	Het
Chrnb1	A	T	11: 69,795,602	I64N	probably damaging	Het
Crh	A	T	3: 19,693,932	M182K	probably damaging	Het
Dazap1	A	G	10: 80,277,599	K110E	possibly damaging	Het
Dhx16	T	C	17: 35,887,886	C737R	probably damaging	Het
Dst	A	G	1: 34,274,262	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,249,420	Q419*	probably null	Het
E2f4	T	A	8: 105,298,651	V121E	probably damaging	Het
Enah	G	A	1: 181,921,972	P415L	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,003	T388A	probably damaging	Het
Gimap6	T	A	6: 48,704,484	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,562,146		probably benign	Het
Gm12695	C	T	4: 96,724,029	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,608,511	D385G	probably damaging	Het
Hyou1	C	T	9: 44,389,091	T855M	probably benign	Het
Igf1r	T	A	7: 68,212,080	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,480,638	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,319,467	V189D	probably damaging	Het
Kifap3	T	A	1: 163,856,065	D438E	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrrc41	G	A	4: 116,096,385	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,598,157	F538L	possibly damaging	Het
Nphp3	G	A	9: 104,037,376	R1052H	probably benign	Het
Nynrin	G	A	14: 55,872,067	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1154	G	A	2: 87,903,475	S67F	probably damaging	Het
Olfr1346	T	C	7: 6,474,442	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,586,769	F577L	probably damaging	Het
Otc	A	G	X: 10,303,367	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,198,919	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,642,419		probably null	Het
Prss16	T	C	13: 22,009,409	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,896,096	K33E	probably benign	Het
Rabepk	A	T	2: 34,795,234	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,717,071	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 75,872,365	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,090,926	H68Y	probably benign	Het
Scap	T	C	9: 110,381,593	C998R	probably damaging	Het
Scgb1b27	T	C	7: 34,021,824	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,244,165	Y502C	probably damaging	Het
Sf3a2	G	T	10: 80,802,829	A95S	probably benign	Het
Sis	A	T	3: 72,913,194	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,835,661	C9S	possibly damaging	Het
Snap91	T	C	9: 86,798,571	T427A	probably benign	Het
St3gal6	A	G	16: 58,473,534	F211L	probably damaging	Het
Stab1	G	A	14: 31,161,880	S240F	probably benign	Het
Sun3	T	A	11: 9,023,371	K109*	probably null	Het
Syne1	T	C	10: 5,041,484	N8410S	probably benign	Het
Tbx18	G	T	9: 87,724,350	S247R	probably damaging	Het
Tenm3	T	C	8: 48,276,169	I1601V	probably benign	Het
Tnk1	C	T	11: 69,855,191		probably null	Het
Txnl4b	A	G	8: 109,568,919		probably benign	Het
Uck1	T	C	2: 32,258,303	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,049,665	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,669,996	V239M	possibly damaging	Het
Zmpste24	T	C	4: 121,097,965	D12G	probably benign	Het
Zscan25	A	G	5: 145,283,692	Y99C	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CACACCTTATCTAACAATGGCCATG -3'
(R):5'- ACCCTGTGGTTATTGTCAGAAG -3'

Sequencing Primer
(F):5'- CCTGGGCACATGAAGGTCAG -3'
(R):5'- GAAGGTAAAAAGATGGCTTTGTTTC -3'

Posted On

2014-10-15