Incidental Mutation 'IGL02305:Tmem135'
ID |
287563 |
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 # |
IGL02305
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
88788922-89053430 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 88814331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041968]
[ENSMUST00000117852]
|
AlphaFold |
Q9CYV5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041968
|
SMART Domains |
Protein: ENSMUSP00000042783 Gene: ENSMUSG00000039428
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
|
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: ENSMUST00000124477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139320
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,921,048 (GRCm39) |
T599I |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,846,796 (GRCm39) |
T409A |
probably benign |
Het |
Apol10b |
T |
A |
15: 77,469,630 (GRCm39) |
R182S |
possibly damaging |
Het |
Arhgap35 |
A |
G |
7: 16,297,590 (GRCm39) |
F492L |
probably benign |
Het |
Ccdc136 |
A |
G |
6: 29,406,173 (GRCm39) |
D173G |
probably damaging |
Het |
Ccndbp1 |
T |
C |
2: 120,841,933 (GRCm39) |
L67P |
probably damaging |
Het |
Dync2h1 |
C |
T |
9: 7,122,678 (GRCm39) |
V2093I |
probably benign |
Het |
Eps15l1 |
T |
C |
8: 73,140,853 (GRCm39) |
K213R |
probably null |
Het |
Fat4 |
A |
T |
3: 39,064,137 (GRCm39) |
N4698Y |
probably damaging |
Het |
Frmpd1 |
G |
T |
4: 45,249,209 (GRCm39) |
R133L |
probably damaging |
Het |
Gdi2 |
T |
A |
13: 3,606,428 (GRCm39) |
M158K |
probably damaging |
Het |
Hoxc8 |
A |
G |
15: 102,901,025 (GRCm39) |
Y156C |
probably damaging |
Het |
Iho1 |
A |
T |
9: 108,283,031 (GRCm39) |
M219K |
possibly damaging |
Het |
Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
Kng2 |
T |
C |
16: 22,819,374 (GRCm39) |
|
probably benign |
Het |
Men1 |
T |
C |
19: 6,390,168 (GRCm39) |
L566P |
probably damaging |
Het |
Mtmr2 |
T |
C |
9: 13,706,551 (GRCm39) |
W153R |
probably damaging |
Het |
Mug2 |
T |
G |
6: 122,013,015 (GRCm39) |
L309R |
probably benign |
Het |
Myo7a |
A |
G |
7: 97,700,836 (GRCm39) |
*2165R |
probably null |
Het |
Ogfod2 |
T |
C |
5: 124,250,910 (GRCm39) |
|
probably null |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Or8g20 |
A |
T |
9: 39,396,333 (GRCm39) |
I72N |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,160,985 (GRCm39) |
L366P |
probably damaging |
Het |
Pdlim4 |
A |
T |
11: 53,946,759 (GRCm39) |
L117H |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,852,467 (GRCm39) |
A672V |
probably benign |
Het |
Pomt2 |
A |
G |
12: 87,164,703 (GRCm39) |
|
probably benign |
Het |
Prpf4 |
T |
A |
4: 62,333,633 (GRCm39) |
|
probably benign |
Het |
Rad17 |
C |
T |
13: 100,770,370 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
A |
2: 112,475,622 (GRCm39) |
I4499F |
probably damaging |
Het |
Sav1 |
A |
G |
12: 70,033,550 (GRCm39) |
|
probably benign |
Het |
Scube1 |
A |
T |
15: 83,491,591 (GRCm39) |
F887I |
probably damaging |
Het |
Slc5a6 |
T |
C |
5: 31,195,179 (GRCm39) |
S473G |
probably benign |
Het |
Taf1b |
T |
C |
12: 24,594,270 (GRCm39) |
S268P |
possibly damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,263,118 (GRCm39) |
N114K |
probably benign |
Het |
Ypel5 |
A |
T |
17: 73,155,591 (GRCm39) |
Y53F |
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,213,674 (GRCm39) |
V428A |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,757,423 (GRCm39) |
|
probably benign |
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 |
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 |
88,956,372 (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 |
2015-04-16 |