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: 0.056)
|
| 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 |
Incidental Mutation