Incidental Mutation 'R3003:Tmem81'
| ID |
257354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem81
|
| Ensembl Gene |
ENSMUSG00000048174 |
| Gene Name |
transmembrane protein 81 |
| Synonyms |
4930429O20Rik |
| MMRRC Submission |
040532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R3003 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
132433968-132436377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132435752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 186
(N186S)
|
| 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: N186S
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000062565
Gene: ENSMUSG00000048174
AA Change: N186S
| 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: N186S
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139911
Gene: ENSMUSG00000048174
AA Change: N186S
| 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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
C |
16: 14,254,393 (GRCm39) |
V568A |
probably damaging |
Het |
| Acd |
C |
T |
8: 106,426,913 (GRCm39) |
|
probably null |
Het |
| Acly |
T |
C |
11: 100,395,053 (GRCm39) |
K469E |
possibly damaging |
Het |
| Adh6b |
G |
T |
3: 138,063,532 (GRCm39) |
L248F |
possibly damaging |
Het |
| Atg9b |
G |
T |
5: 24,596,217 (GRCm39) |
D192E |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,899,988 (GRCm39) |
D182G |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,331,329 (GRCm39) |
E178G |
probably damaging |
Het |
| Clptm1l |
C |
T |
13: 73,765,875 (GRCm39) |
T471I |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,246,184 (GRCm39) |
F1072L |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,156,588 (GRCm39) |
|
probably null |
Het |
| Il27ra |
G |
T |
8: 84,758,660 (GRCm39) |
S499* |
probably null |
Het |
| Klk1b11 |
T |
C |
7: 43,426,419 (GRCm39) |
I51T |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,618,381 (GRCm39) |
T91A |
possibly damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,690 (GRCm39) |
I647T |
possibly damaging |
Het |
| Plxnc1 |
A |
T |
10: 94,629,080 (GRCm39) |
F1565I |
probably damaging |
Het |
| Prr5 |
G |
T |
15: 84,656,031 (GRCm39) |
C344F |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,738,004 (GRCm39) |
W1262R |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,763,197 (GRCm39) |
R927Q |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,014 (GRCm39) |
K213E |
probably damaging |
Het |
| Smarcd1 |
C |
A |
15: 99,610,065 (GRCm39) |
P432Q |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,142,145 (GRCm39) |
D664G |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,910,587 (GRCm39) |
W313R |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,999,916 (GRCm39) |
Y1020C |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,370,125 (GRCm39) |
E714K |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,125 (GRCm39) |
M208V |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACGAGCTTTTCAGACCCTTCC -3'
(R):5'- TTGCATCATAAGCGGGTGC -3'
Sequencing Primer
(F):5'- CGAGCCAATTCCCCCTTTATAGG -3'
(R):5'- TCCCAGGGCCTTGAAGACAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation