Incidental Mutation 'IGL01064:Tmem156'
ID |
51022 |
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 # |
IGL01064
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
65215558-65249524 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65237327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 76
(L76S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043352]
[ENSMUST00000212080]
[ENSMUST00000212194]
[ENSMUST00000212640]
|
AlphaFold |
A0A1D5RLR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043352
AA Change: L99S
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000044102 Gene: ENSMUSG00000037913 AA Change: L99S
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: L111S
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212194
AA Change: L76S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212640
AA Change: L76S
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,433,855 (GRCm39) |
T4137S |
probably benign |
Het |
Abcb1a |
T |
C |
5: 8,782,388 (GRCm39) |
Y924H |
possibly damaging |
Het |
Ash1l |
T |
G |
3: 88,979,791 (GRCm39) |
C2772G |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cpne6 |
T |
C |
14: 55,750,187 (GRCm39) |
F106S |
probably damaging |
Het |
Cysltr1 |
A |
T |
X: 105,622,342 (GRCm39) |
I48N |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,473,263 (GRCm39) |
I779F |
probably damaging |
Het |
Fpr-rs4 |
T |
A |
17: 18,242,779 (GRCm39) |
L262H |
probably damaging |
Het |
Gart |
G |
A |
16: 91,419,895 (GRCm39) |
R871C |
probably damaging |
Het |
Get4 |
C |
T |
5: 139,238,277 (GRCm39) |
R20C |
probably damaging |
Het |
Gm13030 |
G |
A |
4: 138,600,869 (GRCm39) |
|
probably benign |
Het |
Gm17654 |
A |
T |
14: 43,816,455 (GRCm39) |
H49Q |
unknown |
Het |
Gpnmb |
A |
G |
6: 49,032,593 (GRCm39) |
I506V |
probably benign |
Het |
Ist1 |
T |
C |
8: 110,409,243 (GRCm39) |
I86V |
probably damaging |
Het |
Kcnip1 |
C |
T |
11: 33,583,192 (GRCm39) |
D198N |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,584,828 (GRCm39) |
I184V |
possibly damaging |
Het |
Mink1 |
A |
T |
11: 70,494,307 (GRCm39) |
M236L |
probably benign |
Het |
Muc5ac |
A |
T |
7: 141,361,210 (GRCm39) |
N1507I |
probably benign |
Het |
Nrxn2 |
G |
T |
19: 6,567,083 (GRCm39) |
E1326D |
probably damaging |
Het |
Or10ak8 |
A |
T |
4: 118,774,091 (GRCm39) |
M191K |
possibly damaging |
Het |
Or51q1 |
A |
T |
7: 103,628,999 (GRCm39) |
Y200F |
probably benign |
Het |
Or5b3 |
T |
C |
19: 13,388,590 (GRCm39) |
I219T |
probably benign |
Het |
Patj |
T |
C |
4: 98,385,210 (GRCm39) |
S326P |
possibly damaging |
Het |
Pdha2 |
T |
C |
3: 140,916,776 (GRCm39) |
H244R |
possibly damaging |
Het |
Pgap4 |
C |
T |
4: 49,586,860 (GRCm39) |
V103M |
possibly damaging |
Het |
Pkhd1 |
C |
T |
1: 20,604,754 (GRCm39) |
|
probably benign |
Het |
Ptk7 |
A |
T |
17: 46,884,492 (GRCm39) |
L746* |
probably null |
Het |
Rad54b |
G |
A |
4: 11,604,866 (GRCm39) |
G438D |
probably damaging |
Het |
Rbm27 |
T |
C |
18: 42,452,879 (GRCm39) |
V536A |
possibly damaging |
Het |
Rundc3b |
T |
A |
5: 8,619,553 (GRCm39) |
M135L |
probably damaging |
Het |
Sorcs2 |
T |
C |
5: 36,222,696 (GRCm39) |
Y353C |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,159,064 (GRCm39) |
|
probably benign |
Het |
Sytl5 |
A |
G |
X: 9,771,834 (GRCm39) |
H66R |
probably benign |
Het |
Tlr7 |
T |
A |
X: 166,091,207 (GRCm39) |
E93V |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,972,975 (GRCm39) |
F571S |
probably damaging |
Het |
Trmt10b |
A |
G |
4: 45,314,347 (GRCm39) |
Y261C |
possibly 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 |
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 |
2013-06-21 |