Incidental Mutation 'IGL03353:Tmem135'
ID |
419804 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem135
|
Ensembl Gene |
ENSMUSG00000039428 |
Gene Name |
transmembrane protein 135 |
Synonyms |
2810439K08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
IGL03353
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
88788922-89053430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 88791161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 421
(R421L)
|
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: R421L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042783 Gene: ENSMUSG00000039428 AA Change: R421L
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
A |
G |
4: 40,175,893 (GRCm39) |
I176V |
probably damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,358,777 (GRCm39) |
T73A |
probably benign |
Het |
Btaf1 |
G |
T |
19: 36,969,900 (GRCm39) |
L1191F |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,718,331 (GRCm39) |
|
probably benign |
Het |
Clcn3 |
T |
C |
8: 61,376,022 (GRCm39) |
T624A |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,679,366 (GRCm39) |
V537A |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,867,757 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
T |
13: 38,370,671 (GRCm39) |
Y858F |
probably damaging |
Het |
Eya1 |
A |
G |
1: 14,249,751 (GRCm39) |
Y550H |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,261,926 (GRCm39) |
K204E |
probably damaging |
Het |
Frrs1l |
G |
A |
4: 56,968,121 (GRCm39) |
T217M |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,807,737 (GRCm39) |
S1352N |
possibly damaging |
Het |
Hfm1 |
T |
C |
5: 107,004,795 (GRCm39) |
D1177G |
probably damaging |
Het |
Itih4 |
G |
A |
14: 30,609,801 (GRCm39) |
V44I |
probably damaging |
Het |
Kif2c |
A |
G |
4: 117,023,533 (GRCm39) |
M393T |
probably benign |
Het |
Klhdc10 |
T |
A |
6: 30,447,991 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
G |
T |
14: 75,095,482 (GRCm39) |
H119Q |
probably damaging |
Het |
Ncam2 |
A |
T |
16: 81,231,788 (GRCm39) |
N84I |
probably benign |
Het |
Nlrx1 |
A |
G |
9: 44,167,890 (GRCm39) |
V669A |
probably benign |
Het |
Pdcl3 |
A |
G |
1: 39,034,917 (GRCm39) |
N158S |
probably benign |
Het |
Polk |
C |
T |
13: 96,625,719 (GRCm39) |
A362T |
probably damaging |
Het |
Rnf40 |
T |
A |
7: 127,192,063 (GRCm39) |
L403* |
probably null |
Het |
Skint5 |
T |
C |
4: 113,599,379 (GRCm39) |
D720G |
unknown |
Het |
Snx6 |
A |
G |
12: 54,812,469 (GRCm39) |
|
probably benign |
Het |
St6galnac2 |
A |
T |
11: 116,581,128 (GRCm39) |
|
probably benign |
Het |
Stk26 |
A |
T |
X: 49,959,275 (GRCm39) |
D62V |
probably damaging |
Het |
Tgds |
G |
A |
14: 118,364,919 (GRCm39) |
Q101* |
probably null |
Het |
Tspyl4 |
T |
A |
10: 34,174,135 (GRCm39) |
V209E |
probably damaging |
Het |
Tulp2 |
C |
A |
7: 45,165,696 (GRCm39) |
P98Q |
probably damaging |
Het |
Txk |
C |
T |
5: 72,893,745 (GRCm39) |
V12I |
probably benign |
Het |
Usp30 |
A |
G |
5: 114,259,119 (GRCm39) |
T398A |
probably benign |
Het |
Vmn1r8 |
A |
G |
6: 57,013,776 (GRCm39) |
T276A |
probably benign |
Het |
Xdh |
G |
A |
17: 74,202,781 (GRCm39) |
A1123V |
possibly damaging |
Het |
Zfp60 |
T |
A |
7: 27,447,759 (GRCm39) |
Y142* |
probably null |
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 |
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 |
88,956,372 (GRCm39) |
nonsense |
probably null |
|
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 |
|
Posted On |
2016-08-02 |