Incidental Mutation 'R2396:Tmem92'
| ID |
248534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem92
|
| Ensembl Gene |
ENSMUSG00000075610 |
| Gene Name |
transmembrane protein 92 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R2396 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94668043-94673529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94673233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 10
(L10P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100554]
[ENSMUST00000143620]
[ENSMUST00000162809]
|
| AlphaFold |
B7ZWI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100554
AA Change: L10P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128300
Gene: ENSMUSG00000075610
AA Change: L10P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143620
AA Change: L10P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129874
Gene: ENSMUSG00000075610
AA Change: L10P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162809
AA Change: L10P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125159
Gene: ENSMUSG00000075610
AA Change: L10P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
150 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,261,356 (GRCm39) |
W1189* |
probably null |
Het |
| Col4a4 |
C |
G |
1: 82,484,793 (GRCm39) |
M491I |
unknown |
Het |
| Col5a1 |
C |
A |
2: 27,876,741 (GRCm39) |
D813E |
unknown |
Het |
| Cyp4b1 |
T |
C |
4: 115,498,843 (GRCm39) |
Y113C |
probably benign |
Het |
| Dmac1 |
A |
G |
4: 75,196,458 (GRCm39) |
F11L |
unknown |
Het |
| Dnah9 |
G |
T |
11: 65,975,984 (GRCm39) |
T1355K |
probably benign |
Het |
| Efemp1 |
G |
A |
11: 28,817,941 (GRCm39) |
R140Q |
possibly damaging |
Het |
| Elapor2 |
T |
C |
5: 9,485,395 (GRCm39) |
L519P |
possibly damaging |
Het |
| Fndc3a |
T |
C |
14: 72,921,123 (GRCm39) |
D17G |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,761,241 (GRCm39) |
A328T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,590,725 (GRCm39) |
A101E |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,835,715 (GRCm39) |
N382S |
probably benign |
Het |
| Or10am5 |
C |
A |
7: 6,517,784 (GRCm39) |
V215F |
probably damaging |
Het |
| Or5m13b |
T |
C |
2: 85,754,269 (GRCm39) |
I219T |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Pigb |
T |
A |
9: 72,922,553 (GRCm39) |
R11* |
probably null |
Het |
| Prl8a1 |
C |
A |
13: 27,758,007 (GRCm39) |
R234L |
probably benign |
Het |
| Spred3 |
T |
C |
7: 28,866,059 (GRCm39) |
H80R |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,408,506 (GRCm39) |
I207T |
probably benign |
Het |
| Tll1 |
C |
A |
8: 64,523,324 (GRCm39) |
G463* |
probably null |
Het |
| Tm4sf4 |
T |
G |
3: 57,345,181 (GRCm39) |
C196G |
unknown |
Het |
| Tmem87a |
A |
T |
2: 120,234,540 (GRCm39) |
M1K |
probably null |
Het |
| Trdn |
A |
T |
10: 33,071,978 (GRCm39) |
E215V |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,766,471 (GRCm39) |
D849E |
probably benign |
Het |
|
| Other mutations in Tmem92 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Tmem92
|
APN |
11 |
94,673,254 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01674:Tmem92
|
APN |
11 |
94,669,519 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02959:Tmem92
|
APN |
11 |
94,669,504 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0028:Tmem92
|
UTSW |
11 |
94,669,778 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1905:Tmem92
|
UTSW |
11 |
94,669,501 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3056:Tmem92
|
UTSW |
11 |
94,669,873 (GRCm39) |
missense |
probably benign |
|
|
R3116:Tmem92
|
UTSW |
11 |
94,673,254 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5096:Tmem92
|
UTSW |
11 |
94,669,862 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5968:Tmem92
|
UTSW |
11 |
94,669,564 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7570:Tmem92
|
UTSW |
11 |
94,669,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7816:Tmem92
|
UTSW |
11 |
94,669,784 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACCTTGTTTCCCTAGAGAC -3'
(R):5'- AGCTCCTGTTCAGCTTGCAG -3'
Sequencing Primer
(F):5'- AGAGACTCCCTTTGAGGTCC -3'
(R):5'- TTCAGCTTGCAGCCCTGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation