Incidental Mutation 'IGL02177:Tmem135'
| ID |
283166 |
| 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 # |
IGL02177
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
88788922-89053430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88987661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 46
(Y46H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041968]
[ENSMUST00000117852]
[ENSMUST00000137723]
|
| AlphaFold |
Q9CYV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041968
AA Change: Y46H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042783
Gene: ENSMUSG00000039428
AA Change: Y46H
| 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: Y46H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114097
Gene: ENSMUSG00000039428
AA Change: Y46H
| 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 damaging
Transcript: ENSMUST00000137723
AA Change: Y46H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114866
Gene: ENSMUSG00000039428
AA Change: Y46H
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207056
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
G |
19: 53,205,323 (GRCm39) |
Y24* |
probably null |
Het |
| Catsperb |
A |
G |
12: 101,507,721 (GRCm39) |
Y496C |
probably damaging |
Het |
| Ccdc183 |
C |
T |
2: 25,502,095 (GRCm39) |
E260K |
probably benign |
Het |
| Ccdc81 |
A |
C |
7: 89,524,988 (GRCm39) |
M531R |
possibly damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,386,964 (GRCm39) |
N342I |
probably benign |
Het |
| Defb43 |
T |
C |
14: 63,249,266 (GRCm39) |
V3A |
probably benign |
Het |
| Dpyd |
T |
A |
3: 118,858,559 (GRCm39) |
I591N |
possibly damaging |
Het |
| Dpysl5 |
T |
G |
5: 30,902,622 (GRCm39) |
V18G |
probably damaging |
Het |
| Erc2 |
A |
T |
14: 27,620,580 (GRCm39) |
M69L |
probably benign |
Het |
| Fam184b |
G |
T |
5: 45,690,157 (GRCm39) |
Y817* |
probably null |
Het |
| Fyb1 |
G |
T |
15: 6,688,047 (GRCm39) |
|
probably null |
Het |
| Gpr33 |
G |
T |
12: 52,070,863 (GRCm39) |
Q59K |
probably benign |
Het |
| Heatr3 |
T |
G |
8: 88,883,351 (GRCm39) |
F278V |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,819,103 (GRCm39) |
D1292E |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,341,793 (GRCm39) |
M1861L |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,242,627 (GRCm39) |
L614Q |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,318,588 (GRCm39) |
R915G |
possibly damaging |
Het |
| Jhy |
T |
C |
9: 40,809,553 (GRCm39) |
D646G |
probably damaging |
Het |
| Lrig1 |
T |
A |
6: 94,640,977 (GRCm39) |
N76I |
possibly damaging |
Het |
| Macc1 |
A |
G |
12: 119,429,292 (GRCm39) |
D814G |
probably damaging |
Het |
| Mapk8ip1 |
T |
C |
2: 92,217,092 (GRCm39) |
D401G |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,654,439 (GRCm39) |
S865T |
probably damaging |
Het |
| Or9s27 |
G |
A |
1: 92,516,479 (GRCm39) |
M142I |
possibly damaging |
Het |
| Pi4ka |
A |
T |
16: 17,136,146 (GRCm39) |
D937E |
probably benign |
Het |
| Prkcd |
T |
A |
14: 30,327,844 (GRCm39) |
I81F |
probably damaging |
Het |
| Ranbp9 |
A |
T |
13: 43,573,193 (GRCm39) |
C280S |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scn1b |
T |
C |
7: 30,816,655 (GRCm39) |
*219W |
probably null |
Het |
| Slain2 |
T |
C |
5: 73,072,008 (GRCm39) |
V14A |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,268,073 (GRCm39) |
|
probably benign |
Het |
| Tbc1d4 |
T |
A |
14: 101,692,375 (GRCm39) |
M1030L |
possibly damaging |
Het |
| Tenm4 |
T |
C |
7: 96,544,869 (GRCm39) |
V2295A |
probably benign |
Het |
| Tnfsf18 |
A |
T |
1: 161,331,354 (GRCm39) |
D168V |
probably damaging |
Het |
| Trdn |
T |
C |
10: 33,015,169 (GRCm39) |
V41A |
probably damaging |
Het |
| Trpc5 |
G |
T |
X: 143,264,234 (GRCm39) |
L208I |
probably damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,139 (GRCm39) |
Y295H |
probably benign |
Het |
| Vmn2r18 |
T |
G |
5: 151,510,274 (GRCm39) |
H33P |
possibly damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,227,881 (GRCm39) |
I118M |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation