Incidental Mutation 'R6659:Tmem135'
ID |
526765 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem135
|
Ensembl Gene |
ENSMUSG00000039428 |
Gene Name |
transmembrane protein 135 |
Synonyms |
2810439K08Rik |
MMRRC Submission |
044779-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R6659 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
88788922-89053430 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 88956372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 81
(L81*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114866
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041968]
[ENSMUST00000117852]
[ENSMUST00000137723]
|
AlphaFold |
Q9CYV5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041968
AA Change: L81*
|
SMART Domains |
Protein: ENSMUSP00000042783 Gene: ENSMUSG00000039428 AA Change: L81*
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 null
Transcript: ENSMUST00000117852
AA Change: L81*
|
SMART Domains |
Protein: ENSMUSP00000114097 Gene: ENSMUSG00000039428 AA Change: L81*
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 |
probably null
Transcript: ENSMUST00000137723
AA Change: L81*
|
SMART Domains |
Protein: ENSMUSP00000114866 Gene: ENSMUSG00000039428 AA Change: L81*
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
transmembrane domain
|
72 |
94 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154434
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
T |
C |
16: 30,950,133 (GRCm39) |
D212G |
probably damaging |
Het |
Add1 |
C |
T |
5: 34,770,639 (GRCm39) |
A250V |
possibly damaging |
Het |
Atxn2 |
A |
G |
5: 121,916,027 (GRCm39) |
N411S |
probably benign |
Het |
AW551984 |
T |
C |
9: 39,500,395 (GRCm39) |
T788A |
probably benign |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Ddx46 |
A |
G |
13: 55,817,537 (GRCm39) |
T721A |
probably damaging |
Het |
Eif2b1 |
G |
A |
5: 124,717,171 (GRCm39) |
|
probably benign |
Het |
Eif4g3 |
A |
G |
4: 137,905,243 (GRCm39) |
K1241E |
probably damaging |
Het |
Engase |
T |
A |
11: 118,372,142 (GRCm39) |
Y145N |
probably benign |
Het |
Fbrs |
C |
A |
7: 127,087,091 (GRCm39) |
A674D |
probably damaging |
Het |
Gm4884 |
G |
A |
7: 40,694,046 (GRCm39) |
G672R |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Iars2 |
T |
A |
1: 185,020,273 (GRCm39) |
I954F |
possibly damaging |
Het |
Itgad |
A |
T |
7: 127,785,120 (GRCm39) |
I310F |
probably damaging |
Het |
Kcnmb3 |
A |
G |
3: 32,526,594 (GRCm39) |
V199A |
possibly damaging |
Het |
Kctd12 |
G |
T |
14: 103,219,622 (GRCm39) |
D85E |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,125,630 (GRCm39) |
R2929H |
probably damaging |
Het |
Lgmn |
T |
A |
12: 102,368,951 (GRCm39) |
Y176F |
probably benign |
Het |
Lipo3 |
A |
G |
19: 33,533,828 (GRCm39) |
F335L |
possibly damaging |
Het |
Map2k3 |
T |
C |
11: 60,833,150 (GRCm39) |
S46P |
probably benign |
Het |
Megf8 |
C |
A |
7: 25,058,159 (GRCm39) |
H2144Q |
probably benign |
Het |
Neb |
A |
T |
2: 52,124,365 (GRCm39) |
W3694R |
probably damaging |
Het |
Nek10 |
A |
G |
14: 14,861,684 (GRCm38) |
E580G |
probably benign |
Het |
Obscn |
G |
A |
11: 58,929,835 (GRCm39) |
P5930S |
probably damaging |
Het |
Palld |
A |
G |
8: 61,986,477 (GRCm39) |
F621L |
probably benign |
Het |
Pkn2 |
A |
T |
3: 142,509,348 (GRCm39) |
I732N |
probably damaging |
Het |
Plpbp |
T |
A |
8: 27,542,307 (GRCm39) |
I214N |
possibly damaging |
Het |
Ppp1r37 |
A |
G |
7: 19,266,048 (GRCm39) |
S573P |
probably benign |
Het |
Prg4 |
C |
A |
1: 150,336,432 (GRCm39) |
C97F |
probably damaging |
Het |
Prmt2 |
T |
C |
10: 76,053,208 (GRCm39) |
D269G |
possibly damaging |
Het |
Ptbp3 |
T |
A |
4: 59,517,640 (GRCm39) |
L80F |
probably damaging |
Het |
Reep1 |
T |
A |
6: 71,750,179 (GRCm39) |
F64I |
probably damaging |
Het |
Srcap |
C |
A |
7: 127,141,563 (GRCm39) |
P1720Q |
probably damaging |
Het |
Ssr1 |
A |
T |
13: 38,171,666 (GRCm39) |
F124I |
probably damaging |
Het |
Tbx18 |
A |
G |
9: 87,589,864 (GRCm39) |
L358P |
probably damaging |
Het |
Tfpt |
T |
C |
7: 3,623,835 (GRCm39) |
K71E |
probably benign |
Het |
Tmem132a |
C |
A |
19: 10,837,685 (GRCm39) |
G542C |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Washc5 |
A |
G |
15: 59,212,739 (GRCm39) |
|
probably null |
Het |
Zfp24 |
T |
C |
18: 24,150,391 (GRCm39) |
E173G |
possibly damaging |
Het |
Zgrf1 |
T |
C |
3: 127,410,155 (GRCm39) |
I1814T |
probably damaging |
Het |
|
Other mutations in Tmem135 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01459:Tmem135
|
APN |
7 |
88,800,646 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01730:Tmem135
|
APN |
7 |
88,797,252 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01933:Tmem135
|
APN |
7 |
88,793,065 (GRCm39) |
unclassified |
probably benign |
|
IGL02177:Tmem135
|
APN |
7 |
88,987,661 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02305:Tmem135
|
APN |
7 |
88,814,331 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02747:Tmem135
|
APN |
7 |
88,793,878 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02801:Tmem135
|
APN |
7 |
88,803,333 (GRCm39) |
missense |
probably benign |
0.13 |
IGL03353:Tmem135
|
APN |
7 |
88,791,161 (GRCm39) |
missense |
probably damaging |
1.00 |
Skim
|
UTSW |
7 |
88,845,335 (GRCm39) |
nonsense |
probably null |
|
R0631:Tmem135
|
UTSW |
7 |
88,792,996 (GRCm39) |
nonsense |
probably null |
|
R0657:Tmem135
|
UTSW |
7 |
88,793,890 (GRCm39) |
missense |
probably damaging |
0.96 |
R2233:Tmem135
|
UTSW |
7 |
88,803,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R3118:Tmem135
|
UTSW |
7 |
88,797,005 (GRCm39) |
missense |
probably benign |
0.02 |
R3119:Tmem135
|
UTSW |
7 |
88,797,005 (GRCm39) |
missense |
probably benign |
0.02 |
R5094:Tmem135
|
UTSW |
7 |
88,793,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R5225:Tmem135
|
UTSW |
7 |
88,845,335 (GRCm39) |
nonsense |
probably null |
|
R5248:Tmem135
|
UTSW |
7 |
88,797,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R5356:Tmem135
|
UTSW |
7 |
88,954,723 (GRCm39) |
missense |
probably benign |
0.06 |
R5372:Tmem135
|
UTSW |
7 |
88,814,382 (GRCm39) |
splice site |
probably null |
|
R5442:Tmem135
|
UTSW |
7 |
88,793,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R5789:Tmem135
|
UTSW |
7 |
88,845,330 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5863:Tmem135
|
UTSW |
7 |
88,797,176 (GRCm39) |
critical splice donor site |
probably null |
|
R6158:Tmem135
|
UTSW |
7 |
88,805,652 (GRCm39) |
missense |
probably benign |
0.12 |
R6383:Tmem135
|
UTSW |
7 |
88,793,878 (GRCm39) |
missense |
probably damaging |
0.98 |
R6416:Tmem135
|
UTSW |
7 |
88,797,002 (GRCm39) |
missense |
probably benign |
|
R6659:Tmem135
|
UTSW |
7 |
88,956,371 (GRCm39) |
missense |
probably benign |
0.07 |
R6731:Tmem135
|
UTSW |
7 |
88,893,172 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7545:Tmem135
|
UTSW |
7 |
88,954,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R7626:Tmem135
|
UTSW |
7 |
88,805,718 (GRCm39) |
splice site |
probably null |
|
R8089:Tmem135
|
UTSW |
7 |
88,805,703 (GRCm39) |
missense |
probably damaging |
0.99 |
R8447:Tmem135
|
UTSW |
7 |
88,803,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R8703:Tmem135
|
UTSW |
7 |
88,808,170 (GRCm39) |
missense |
probably benign |
0.00 |
R8750:Tmem135
|
UTSW |
7 |
88,956,456 (GRCm39) |
missense |
probably damaging |
0.99 |
R8758:Tmem135
|
UTSW |
7 |
88,954,721 (GRCm39) |
missense |
probably benign |
0.04 |
R8806:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
R8807:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
R8808:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
R8835:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
R8836:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
R9093:Tmem135
|
UTSW |
7 |
88,797,204 (GRCm39) |
missense |
probably benign |
0.02 |
R9120:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
R9122:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
R9308:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
R9649:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
R9650:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGAACCTGAATAACAATTATGCC -3'
(R):5'- CACGCGCTTTATTCAGTAGTATTCC -3'
Sequencing Primer
(F):5'- TGACTCTGAGGTTTAGAAAGCCCAC -3'
(R):5'- TTCCATATAAGAGCGAATGTAAGTGG -3'
|
Posted On |
2018-07-23 |