Incidental Mutation 'IGL01730:Tmem135'
ID |
105443 |
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 # |
IGL01730
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
88788922-89053430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88797252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 335
(F335I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041968]
[ENSMUST00000117852]
|
AlphaFold |
Q9CYV5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041968
AA Change: F335I
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000042783 Gene: ENSMUSG00000039428 AA Change: F335I
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 |
possibly damaging
Transcript: ENSMUST00000117852
AA Change: F335I
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114097 Gene: ENSMUSG00000039428 AA Change: F335I
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1 |
A |
G |
5: 36,119,583 (GRCm39) |
E287G |
probably damaging |
Het |
Bhmt |
A |
T |
13: 93,761,917 (GRCm39) |
V122E |
probably damaging |
Het |
Camta1 |
A |
G |
4: 151,147,302 (GRCm39) |
I585T |
probably damaging |
Het |
Cfap221 |
A |
G |
1: 119,861,841 (GRCm39) |
S645P |
probably benign |
Het |
Derl1 |
A |
T |
15: 57,755,543 (GRCm39) |
F50Y |
possibly damaging |
Het |
Dhrs3 |
T |
C |
4: 144,646,042 (GRCm39) |
S117P |
probably damaging |
Het |
E2f8 |
A |
T |
7: 48,527,682 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,154,894 (GRCm39) |
|
probably benign |
Het |
Fbxo15 |
A |
G |
18: 84,982,299 (GRCm39) |
I250M |
probably benign |
Het |
Ghr |
A |
T |
15: 3,350,066 (GRCm39) |
S371T |
probably damaging |
Het |
Gm5884 |
A |
T |
6: 128,622,669 (GRCm39) |
|
noncoding transcript |
Het |
Grhl2 |
T |
C |
15: 37,338,018 (GRCm39) |
V496A |
probably benign |
Het |
Gsap |
A |
G |
5: 21,495,152 (GRCm39) |
|
probably benign |
Het |
Irak3 |
T |
C |
10: 120,014,005 (GRCm39) |
D148G |
probably benign |
Het |
Itga2 |
A |
T |
13: 114,990,947 (GRCm39) |
|
probably benign |
Het |
Kif13b |
T |
C |
14: 64,987,810 (GRCm39) |
|
probably null |
Het |
Kif20b |
A |
T |
19: 34,927,923 (GRCm39) |
K1022* |
probably null |
Het |
Klhl17 |
G |
T |
4: 156,316,157 (GRCm39) |
S399* |
probably null |
Het |
Lcp2 |
A |
T |
11: 34,000,943 (GRCm39) |
D42V |
possibly damaging |
Het |
Lin7c |
G |
T |
2: 109,726,785 (GRCm39) |
G145* |
probably null |
Het |
Lrba |
A |
G |
3: 86,648,731 (GRCm39) |
D2493G |
possibly damaging |
Het |
Mobp |
A |
G |
9: 119,996,992 (GRCm39) |
D41G |
probably damaging |
Het |
Mycbp2 |
G |
A |
14: 103,372,640 (GRCm39) |
Q785* |
probably null |
Het |
Myl6b |
T |
C |
10: 128,332,211 (GRCm39) |
Y85C |
possibly damaging |
Het |
Nup133 |
G |
T |
8: 124,664,972 (GRCm39) |
H240N |
probably benign |
Het |
Or5b12 |
A |
C |
19: 12,896,926 (GRCm39) |
F249C |
probably damaging |
Het |
Plk4 |
T |
C |
3: 40,760,285 (GRCm39) |
S394P |
probably benign |
Het |
Prepl |
A |
G |
17: 85,388,603 (GRCm39) |
Y167H |
possibly damaging |
Het |
Prkab1 |
A |
G |
5: 116,159,551 (GRCm39) |
L105P |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,616,728 (GRCm39) |
I3897L |
possibly damaging |
Het |
Sema3c |
A |
G |
5: 17,916,434 (GRCm39) |
S469G |
probably benign |
Het |
Serpinb3c |
T |
A |
1: 107,200,914 (GRCm39) |
S168C |
probably damaging |
Het |
Snapc4 |
A |
T |
2: 26,253,736 (GRCm39) |
|
probably null |
Het |
Sorcs2 |
A |
T |
5: 36,205,153 (GRCm39) |
M528K |
probably damaging |
Het |
Spink10 |
T |
A |
18: 62,784,816 (GRCm39) |
|
probably null |
Het |
Tent5b |
A |
T |
4: 133,213,833 (GRCm39) |
|
probably null |
Het |
Thsd7a |
C |
A |
6: 12,554,980 (GRCm39) |
Q301H |
probably benign |
Het |
Tshr |
A |
T |
12: 91,486,077 (GRCm39) |
D217V |
possibly damaging |
Het |
Ttyh1 |
G |
A |
7: 4,128,720 (GRCm39) |
V206M |
possibly damaging |
Het |
Tusc3 |
T |
G |
8: 39,617,880 (GRCm39) |
*348G |
probably null |
Het |
Vmn2r76 |
G |
A |
7: 85,879,406 (GRCm39) |
T298I |
probably benign |
Het |
Wdr47 |
T |
C |
3: 108,518,712 (GRCm39) |
F67L |
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 |
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 |
88,956,372 (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 |
2014-01-21 |