Incidental Mutation 'R0094:Tmem81'
| ID |
17334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem81
|
| Ensembl Gene |
ENSMUSG00000048174 |
| Gene Name |
transmembrane protein 81 |
| Synonyms |
4930429O20Rik |
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132433968-132436377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132435787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 198
(I198V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027700]
[ENSMUST00000058167]
[ENSMUST00000086521]
[ENSMUST00000187505]
[ENSMUST00000188789]
[ENSMUST00000190825]
[ENSMUST00000190997]
|
| AlphaFold |
Q9D5K1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027700
|
| SMART Domains |
Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
14 |
52 |
2.31e-1 |
SMART |
|
WD40
|
55 |
94 |
7.33e-7 |
SMART |
|
Blast:WD40
|
97 |
177 |
2e-31 |
BLAST |
|
WD40
|
182 |
226 |
8.29e-1 |
SMART |
|
WD40
|
241 |
280 |
1.28e1 |
SMART |
|
WD40
|
283 |
322 |
2.97e0 |
SMART |
|
low complexity region
|
344 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058167
AA Change: I198V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000062565
Gene: ENSMUSG00000048174
AA Change: I198V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Blast:IG
|
86 |
178 |
6e-54 |
BLAST |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086521
|
| SMART Domains |
Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IGc2
|
54 |
120 |
8.78e-9 |
SMART |
|
IG
|
142 |
232 |
3.89e-1 |
SMART |
|
IGc2
|
254 |
315 |
2.14e-21 |
SMART |
|
IGc2
|
341 |
404 |
4.59e-12 |
SMART |
|
IGc2
|
433 |
497 |
7.52e-8 |
SMART |
|
IGc2
|
523 |
596 |
2.72e-5 |
SMART |
|
FN3
|
610 |
696 |
2.72e-12 |
SMART |
|
FN3
|
713 |
799 |
1.02e-2 |
SMART |
|
FN3
|
815 |
899 |
5.27e-10 |
SMART |
|
FN3
|
915 |
995 |
8.91e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186487
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187505
|
| SMART Domains |
Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
52 |
9e-13 |
BLAST |
|
WD40
|
55 |
99 |
5.1e-3 |
SMART |
|
WD40
|
114 |
153 |
7.9e-2 |
SMART |
|
WD40
|
156 |
195 |
1.9e-2 |
SMART |
|
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187834
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188065
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188789
AA Change: I198V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139911
Gene: ENSMUSG00000048174
AA Change: I198V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Blast:IG
|
86 |
178 |
6e-54 |
BLAST |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190825
|
| SMART Domains |
Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
14 |
52 |
1.4e-3 |
SMART |
|
WD40
|
55 |
94 |
4.6e-9 |
SMART |
|
Blast:WD40
|
97 |
177 |
2e-31 |
BLAST |
|
WD40
|
182 |
226 |
5.1e-3 |
SMART |
|
WD40
|
241 |
280 |
7.9e-2 |
SMART |
|
WD40
|
283 |
322 |
1.9e-2 |
SMART |
|
low complexity region
|
344 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190997
|
| SMART Domains |
Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
14 |
52 |
2.31e-1 |
SMART |
|
WD40
|
55 |
94 |
7.33e-7 |
SMART |
|
Blast:WD40
|
97 |
177 |
2e-31 |
BLAST |
|
WD40
|
182 |
226 |
8.29e-1 |
SMART |
|
WD40
|
241 |
280 |
1.28e1 |
SMART |
|
WD40
|
283 |
322 |
2.97e0 |
SMART |
|
low complexity region
|
344 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189528
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 84.5%
- 3x: 75.9%
- 10x: 43.5%
- 20x: 12.9%
|
| Validation Efficiency |
86% (51/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,203,427 (GRCm39) |
|
probably benign |
Het |
| 4930432E11Rik |
A |
G |
7: 29,260,236 (GRCm39) |
|
noncoding transcript |
Het |
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,277,171 (GRCm39) |
D2034E |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,655 (GRCm39) |
R178G |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Ctsj |
A |
C |
13: 61,151,519 (GRCm39) |
|
probably null |
Het |
| Dap3 |
T |
A |
3: 88,834,335 (GRCm39) |
M294L |
probably benign |
Het |
| Ddias |
T |
C |
7: 92,509,108 (GRCm39) |
N269S |
possibly damaging |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Eif2b1 |
A |
G |
5: 124,709,829 (GRCm39) |
F250L |
probably benign |
Het |
| Emc1 |
T |
A |
4: 139,087,796 (GRCm39) |
F100Y |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,065,344 (GRCm39) |
M112L |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,078,917 (GRCm39) |
Y445C |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,172,042 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,846,200 (GRCm39) |
Y897H |
probably damaging |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Mybpc2 |
A |
G |
7: 44,166,328 (GRCm39) |
Y221H |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,344,468 (GRCm39) |
I2323N |
possibly damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Otol1 |
G |
A |
3: 69,926,016 (GRCm39) |
A64T |
probably benign |
Het |
| Pcdh8 |
G |
T |
14: 80,005,588 (GRCm39) |
D933E |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rad54b |
T |
C |
4: 11,599,681 (GRCm39) |
V72A |
possibly damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,016,338 (GRCm39) |
|
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Serping1 |
T |
G |
2: 84,603,620 (GRCm39) |
R140S |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,221,310 (GRCm39) |
F252S |
probably benign |
Het |
| Spata45 |
A |
G |
1: 190,772,059 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,896,635 (GRCm39) |
S1174P |
probably benign |
Het |
| Ss18l2 |
T |
C |
9: 121,541,699 (GRCm39) |
L64P |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,894,929 (GRCm38) |
|
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,708,791 (GRCm39) |
T130I |
probably benign |
Het |
|
| Other mutations in Tmem81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01918:Tmem81
|
APN |
1 |
132,435,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Tmem81
|
UTSW |
1 |
132,435,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Tmem81
|
UTSW |
1 |
132,435,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Tmem81
|
UTSW |
1 |
132,435,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Tmem81
|
UTSW |
1 |
132,435,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Tmem81
|
UTSW |
1 |
132,435,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Tmem81
|
UTSW |
1 |
132,435,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0651:Tmem81
|
UTSW |
1 |
132,435,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0696:Tmem81
|
UTSW |
1 |
132,435,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Tmem81
|
UTSW |
1 |
132,435,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1663:Tmem81
|
UTSW |
1 |
132,435,635 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1750:Tmem81
|
UTSW |
1 |
132,435,321 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1881:Tmem81
|
UTSW |
1 |
132,435,948 (GRCm39) |
unclassified |
probably benign |
|
|
R2074:Tmem81
|
UTSW |
1 |
132,435,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2121:Tmem81
|
UTSW |
1 |
132,435,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3003:Tmem81
|
UTSW |
1 |
132,435,752 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3789:Tmem81
|
UTSW |
1 |
132,435,809 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4638:Tmem81
|
UTSW |
1 |
132,435,943 (GRCm39) |
unclassified |
probably benign |
|
|
R7162:Tmem81
|
UTSW |
1 |
132,435,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7375:Tmem81
|
UTSW |
1 |
132,435,301 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7527:Tmem81
|
UTSW |
1 |
132,435,884 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7586:Tmem81
|
UTSW |
1 |
132,435,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Tmem81
|
UTSW |
1 |
132,435,949 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation