Incidental Mutation 'IGL00538:Tmem156'
| ID |
332559 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem156
|
| Ensembl Gene |
ENSMUSG00000037913 |
| Gene Name |
transmembrane protein 156 |
| Synonyms |
LOC243025 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL00538
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
65215558-65249524 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65231183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 165
(Y165C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043352]
[ENSMUST00000212080]
[ENSMUST00000212194]
[ENSMUST00000212640]
|
| AlphaFold |
A0A1D5RLR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043352
AA Change: Y217C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044102
Gene: ENSMUSG00000037913
AA Change: Y217C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:TMEM156
|
39 |
264 |
1.2e-111 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203664
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212080
AA Change: Y229C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212194
AA Change: Y194C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212640
AA Change: Y165C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl9 |
T |
A |
5: 77,151,903 (GRCm39) |
M1K |
probably null |
Het |
| Asf1a |
T |
C |
10: 53,482,227 (GRCm39) |
L13P |
probably damaging |
Het |
| Atg2b |
T |
G |
12: 105,611,175 (GRCm39) |
H1252P |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,451,783 (GRCm39) |
R216* |
probably null |
Het |
| Cdc42ep3 |
G |
A |
17: 79,642,884 (GRCm39) |
A12V |
possibly damaging |
Het |
| Cntn3 |
G |
A |
6: 102,397,223 (GRCm39) |
Q117* |
probably null |
Het |
| Cyp3a41b |
G |
A |
5: 145,515,010 (GRCm39) |
|
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,408,466 (GRCm39) |
E124G |
probably benign |
Het |
| Galnt7 |
T |
A |
8: 58,005,556 (GRCm39) |
T226S |
possibly damaging |
Het |
| H2al3 |
T |
A |
X: 9,716,244 (GRCm39) |
|
probably benign |
Het |
| Ighv1-7 |
C |
A |
12: 114,502,381 (GRCm39) |
E29* |
probably null |
Het |
| Iqcb1 |
G |
T |
16: 36,678,948 (GRCm39) |
V421F |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,755,076 (GRCm39) |
V284I |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,376,779 (GRCm39) |
Y161N |
probably damaging |
Het |
| Slc14a1 |
A |
T |
18: 78,147,288 (GRCm39) |
F313Y |
probably damaging |
Het |
| Taco1 |
T |
A |
11: 105,962,805 (GRCm39) |
I164N |
probably damaging |
Het |
| Tenm3 |
G |
T |
8: 48,689,060 (GRCm39) |
H2176N |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 56,921,622 (GRCm39) |
N731K |
possibly damaging |
Het |
| Ubox5 |
T |
C |
2: 130,441,808 (GRCm39) |
N293S |
probably damaging |
Het |
|
| Other mutations in Tmem156 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Tmem156
|
APN |
5 |
65,237,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01330:Tmem156
|
APN |
5 |
65,237,525 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03336:Tmem156
|
APN |
5 |
65,233,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03383:Tmem156
|
APN |
5 |
65,233,040 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0526:Tmem156
|
UTSW |
5 |
65,233,161 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2006:Tmem156
|
UTSW |
5 |
65,237,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Tmem156
|
UTSW |
5 |
65,248,870 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4773:Tmem156
|
UTSW |
5 |
65,237,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Tmem156
|
UTSW |
5 |
65,248,790 (GRCm39) |
intron |
probably benign |
|
|
R4910:Tmem156
|
UTSW |
5 |
65,248,805 (GRCm39) |
intron |
probably benign |
|
|
R5148:Tmem156
|
UTSW |
5 |
65,231,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5510:Tmem156
|
UTSW |
5 |
65,232,917 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5809:Tmem156
|
UTSW |
5 |
65,232,950 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6033:Tmem156
|
UTSW |
5 |
65,232,964 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6033:Tmem156
|
UTSW |
5 |
65,232,964 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7731:Tmem156
|
UTSW |
5 |
65,232,905 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7772:Tmem156
|
UTSW |
5 |
65,237,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Tmem156
|
UTSW |
5 |
65,232,912 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7979:Tmem156
|
UTSW |
5 |
65,237,352 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8017:Tmem156
|
UTSW |
5 |
65,231,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8132:Tmem156
|
UTSW |
5 |
65,233,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8249:Tmem156
|
UTSW |
5 |
65,232,969 (GRCm39) |
nonsense |
probably null |
|
|
R8492:Tmem156
|
UTSW |
5 |
65,222,438 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9209:Tmem156
|
UTSW |
5 |
65,231,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Tmem156
|
UTSW |
5 |
65,231,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Tmem156
|
UTSW |
5 |
65,237,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9470:Tmem156
|
UTSW |
5 |
65,237,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9471:Tmem156
|
UTSW |
5 |
65,237,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9696:Tmem156
|
UTSW |
5 |
65,231,147 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
RF020:Tmem156
|
UTSW |
5 |
65,248,890 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Posted On |
2015-08-05 |
Incidental Mutation