Incidental Mutation 'IGL03336:Tmem156'
ID |
417032 |
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 # |
IGL03336
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
65215558-65249524 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65233107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 152
(Y152H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043352]
[ENSMUST00000212080]
[ENSMUST00000212194]
[ENSMUST00000212640]
|
AlphaFold |
A0A1D5RLR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043352
AA Change: Y140H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000044102 Gene: ENSMUSG00000037913 AA Change: Y140H
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 benign
Transcript: ENSMUST00000212080
AA Change: Y152H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212194
AA Change: Y117H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212640
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
A |
G |
15: 59,888,251 (GRCm39) |
V63A |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,618,582 (GRCm39) |
S1757P |
probably benign |
Het |
Atp8a1 |
G |
T |
5: 67,887,150 (GRCm39) |
Y629* |
probably null |
Het |
Cenpf |
T |
C |
1: 189,384,844 (GRCm39) |
K2479E |
probably damaging |
Het |
Clip1 |
G |
T |
5: 123,791,633 (GRCm39) |
S179* |
probably null |
Het |
Cmya5 |
A |
G |
13: 93,230,013 (GRCm39) |
S1692P |
possibly damaging |
Het |
Cyp17a1 |
T |
C |
19: 46,659,474 (GRCm39) |
S119G |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,711 (GRCm39) |
F160L |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,418,100 (GRCm39) |
V3682A |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,175,528 (GRCm39) |
D328Y |
probably damaging |
Het |
Or10a5 |
T |
A |
7: 106,635,542 (GRCm39) |
M60K |
probably damaging |
Het |
Or4c121 |
T |
C |
2: 89,024,241 (GRCm39) |
T46A |
probably benign |
Het |
Or51f1 |
C |
T |
7: 102,505,823 (GRCm39) |
C222Y |
probably benign |
Het |
Or51k2 |
T |
C |
7: 103,596,616 (GRCm39) |
L281P |
probably damaging |
Het |
Or6c203 |
T |
C |
10: 129,010,098 (GRCm39) |
E264G |
probably benign |
Het |
Paxbp1 |
T |
C |
16: 90,831,060 (GRCm39) |
I439V |
probably benign |
Het |
Pcdhb3 |
T |
C |
18: 37,436,014 (GRCm39) |
V660A |
possibly damaging |
Het |
Pcyt2 |
T |
C |
11: 120,506,758 (GRCm39) |
D32G |
probably damaging |
Het |
Pdzph1 |
A |
T |
17: 59,281,229 (GRCm39) |
V351D |
probably benign |
Het |
Ribc2 |
C |
T |
15: 85,017,114 (GRCm39) |
Q51* |
probably null |
Het |
Scn2a |
A |
G |
2: 65,519,088 (GRCm39) |
E438G |
probably damaging |
Het |
Slc18a3 |
T |
C |
14: 32,184,785 (GRCm39) |
|
probably benign |
Het |
Slc5a1 |
G |
A |
5: 33,304,287 (GRCm39) |
V296I |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,560,928 (GRCm39) |
T958S |
probably damaging |
Het |
Spag8 |
C |
T |
4: 43,652,114 (GRCm39) |
|
probably benign |
Het |
Susd3 |
A |
C |
13: 49,392,258 (GRCm39) |
S144R |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,907,828 (GRCm39) |
E496G |
possibly damaging |
Het |
Tbcel |
T |
C |
9: 42,350,427 (GRCm39) |
T269A |
probably benign |
Het |
Tmem247 |
A |
G |
17: 87,225,857 (GRCm39) |
E99G |
probably damaging |
Het |
Tuba3b |
A |
G |
6: 145,565,450 (GRCm39) |
D306G |
possibly damaging |
Het |
Vps13c |
T |
A |
9: 67,858,924 (GRCm39) |
D2791E |
possibly damaging |
Het |
Ypel4 |
A |
G |
2: 84,567,871 (GRCm39) |
Y98C |
probably damaging |
Het |
|
Other mutations in Tmem156 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00538:Tmem156
|
APN |
5 |
65,231,183 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |