Incidental Mutation 'IGL00756:Tmem171'
| ID |
14492 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem171
|
| Ensembl Gene |
ENSMUSG00000052485 |
| Gene Name |
transmembrane protein 171 |
| Synonyms |
LOC380863 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00756
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
98822743-98831342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98822934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 288
(R288S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064347]
|
| AlphaFold |
Q4KL18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064347
AA Change: R288S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070369
Gene: ENSMUSG00000052485
AA Change: R288S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM171
|
2 |
317 |
3e-168 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
T |
2: 48,763,064 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
C |
A |
3: 36,962,367 (GRCm39) |
H489Q |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,362,023 (GRCm39) |
K583N |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,293,931 (GRCm39) |
|
probably benign |
Het |
| Crot |
C |
A |
5: 9,026,072 (GRCm39) |
R305L |
probably damaging |
Het |
| Ctnnal1 |
A |
T |
4: 56,829,544 (GRCm39) |
N428K |
possibly damaging |
Het |
| Dab1 |
A |
G |
4: 104,585,075 (GRCm39) |
K405R |
probably benign |
Het |
| Dnah6 |
A |
C |
6: 73,100,754 (GRCm39) |
F2016L |
possibly damaging |
Het |
| Fgfrl1 |
A |
G |
5: 108,853,819 (GRCm39) |
K309E |
possibly damaging |
Het |
| Gucy1b2 |
T |
C |
14: 62,640,658 (GRCm39) |
H749R |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,300,460 (GRCm39) |
S1525T |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,309,468 (GRCm39) |
Y72N |
probably damaging |
Het |
| Ntrk1 |
C |
T |
3: 87,691,004 (GRCm39) |
E387K |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,618,016 (GRCm39) |
M932T |
possibly damaging |
Het |
| Rarb |
C |
A |
14: 16,443,791 (GRCm38) |
E166* |
probably null |
Het |
| Thnsl1 |
T |
A |
2: 21,217,423 (GRCm39) |
H392Q |
probably benign |
Het |
| Zc4h2 |
T |
A |
X: 94,685,807 (GRCm39) |
R186* |
probably null |
Het |
|
| Other mutations in Tmem171 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Tmem171
|
APN |
13 |
98,823,026 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01584:Tmem171
|
APN |
13 |
98,828,683 (GRCm39) |
splice site |
probably null |
|
|
G1patch:Tmem171
|
UTSW |
13 |
98,828,678 (GRCm39) |
nonsense |
probably null |
|
|
R0366:Tmem171
|
UTSW |
13 |
98,828,736 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0380:Tmem171
|
UTSW |
13 |
98,828,535 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1903:Tmem171
|
UTSW |
13 |
98,822,924 (GRCm39) |
nonsense |
probably null |
|
|
R2023:Tmem171
|
UTSW |
13 |
98,828,733 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2102:Tmem171
|
UTSW |
13 |
98,828,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4090:Tmem171
|
UTSW |
13 |
98,829,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4941:Tmem171
|
UTSW |
13 |
98,828,803 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5341:Tmem171
|
UTSW |
13 |
98,824,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Tmem171
|
UTSW |
13 |
98,828,574 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5741:Tmem171
|
UTSW |
13 |
98,828,559 (GRCm39) |
missense |
probably benign |
|
|
R5761:Tmem171
|
UTSW |
13 |
98,829,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6725:Tmem171
|
UTSW |
13 |
98,828,678 (GRCm39) |
nonsense |
probably null |
|
|
R6947:Tmem171
|
UTSW |
13 |
98,824,950 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6981:Tmem171
|
UTSW |
13 |
98,828,976 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7171:Tmem171
|
UTSW |
13 |
98,828,744 (GRCm39) |
nonsense |
probably null |
|
|
R7229:Tmem171
|
UTSW |
13 |
98,829,133 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7447:Tmem171
|
UTSW |
13 |
98,824,862 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8418:Tmem171
|
UTSW |
13 |
98,828,740 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2012-12-06 |
Incidental Mutation