Incidental Mutation 'IGL01918:Tmem81'
| ID |
180021 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem81
|
| Ensembl Gene |
ENSMUSG00000048174 |
| Gene Name |
transmembrane protein 81 |
| Synonyms |
4930429O20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL01918
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132433968-132436377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 132435698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 168
(V168D)
|
| 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 damaging
Transcript: ENSMUST00000058167
AA Change: V168D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062565
Gene: ENSMUSG00000048174
AA Change: V168D
| 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 damaging
Transcript: ENSMUST00000188789
AA Change: V168D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139911
Gene: ENSMUSG00000048174
AA Change: V168D
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,097,098 (GRCm39) |
Q71R |
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,631,281 (GRCm39) |
V409A |
probably benign |
Het |
| Ap4m1 |
A |
G |
5: 138,171,106 (GRCm39) |
T69A |
probably damaging |
Het |
| B3gat2 |
A |
T |
1: 23,884,209 (GRCm39) |
K306* |
probably null |
Het |
| Calr |
A |
G |
8: 85,569,479 (GRCm39) |
|
probably benign |
Het |
| Ccdc54 |
C |
T |
16: 50,411,215 (GRCm39) |
W17* |
probably null |
Het |
| Cd68 |
T |
C |
11: 69,555,927 (GRCm39) |
S204G |
possibly damaging |
Het |
| Cep128 |
A |
T |
12: 91,200,984 (GRCm39) |
I342K |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,904,703 (GRCm39) |
I346L |
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,475,467 (GRCm39) |
D418V |
possibly damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,478,866 (GRCm39) |
R197S |
possibly damaging |
Het |
| Ddx31 |
G |
T |
2: 28,764,176 (GRCm39) |
V461F |
probably damaging |
Het |
| Eps15l1 |
T |
C |
8: 73,121,756 (GRCm39) |
M714V |
possibly damaging |
Het |
| Fshb |
A |
T |
2: 106,889,272 (GRCm39) |
F11I |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,822,482 (GRCm39) |
C6072G |
possibly damaging |
Het |
| Fuz |
T |
G |
7: 44,546,383 (GRCm39) |
L93R |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm8991 |
G |
A |
5: 16,935,678 (GRCm39) |
|
noncoding transcript |
Het |
| Itga11 |
C |
A |
9: 62,680,278 (GRCm39) |
N973K |
probably benign |
Het |
| Lca5 |
T |
A |
9: 83,305,201 (GRCm39) |
T202S |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,390,458 (GRCm39) |
L3053F |
probably damaging |
Het |
| Mapk13 |
T |
C |
17: 28,994,304 (GRCm39) |
Y129H |
probably damaging |
Het |
| Mast1 |
T |
A |
8: 85,647,838 (GRCm39) |
H512L |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,081,281 (GRCm39) |
N213S |
probably damaging |
Het |
| Mtcl1 |
C |
T |
17: 66,675,263 (GRCm39) |
G734R |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,686,985 (GRCm39) |
I30N |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,082,675 (GRCm39) |
I219T |
probably damaging |
Het |
| Pctp |
T |
C |
11: 89,878,162 (GRCm39) |
D124G |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,565 (GRCm39) |
|
probably null |
Het |
| Plat |
T |
A |
8: 23,270,453 (GRCm39) |
F457I |
possibly damaging |
Het |
| Snw1 |
T |
C |
12: 87,502,438 (GRCm39) |
K319E |
probably benign |
Het |
| Sox8 |
A |
G |
17: 25,789,111 (GRCm39) |
L129P |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,269,103 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,241,450 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
C |
A |
10: 86,549,054 (GRCm39) |
Q83K |
probably damaging |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,267 (GRCm39) |
V165A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps33b |
A |
G |
7: 79,937,560 (GRCm39) |
|
probably null |
Het |
| Zap70 |
T |
C |
1: 36,817,868 (GRCm39) |
Y290H |
possibly damaging |
Het |
|
| Other mutations in Tmem81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0094:Tmem81
|
UTSW |
1 |
132,435,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-05-07 |
Incidental Mutation