Incidental Mutation 'R4182:Tmem115'
| ID |
319783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem115
|
| Ensembl Gene |
ENSMUSG00000010045 |
| Gene Name |
transmembrane protein 115 |
| Synonyms |
Pl6 |
| MMRRC Submission |
041018-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R4182 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107411144-107415855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107412482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 269
(T269A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010189]
[ENSMUST00000041459]
[ENSMUST00000194967]
[ENSMUST00000195235]
|
| AlphaFold |
Q9WUH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010189
AA Change: T269A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045
AA Change: T269A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
DUF1751
|
49 |
151 |
4.14e-41 |
SMART |
|
transmembrane domain
|
164 |
183 |
N/A |
INTRINSIC |
|
transmembrane domain
|
190 |
208 |
N/A |
INTRINSIC |
|
transmembrane domain
|
223 |
245 |
N/A |
INTRINSIC |
|
Blast:DUF1751
|
304 |
347 |
2e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041459
|
| SMART Domains |
Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
B561
|
47 |
178 |
8.01e-42 |
SMART |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194906
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194967
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195235
|
| SMART Domains |
Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
B561
|
47 |
178 |
8.01e-42 |
SMART |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1931 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,928,801 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,120,999 (GRCm39) |
|
probably null |
Het |
| Cfap20 |
A |
T |
8: 96,151,284 (GRCm39) |
I19N |
probably damaging |
Het |
| Clnk |
T |
A |
5: 38,905,193 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,894,675 (GRCm39) |
|
probably null |
Het |
| Cux2 |
C |
T |
5: 122,006,555 (GRCm39) |
G905D |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Ddx59 |
T |
A |
1: 136,367,599 (GRCm39) |
S569T |
probably benign |
Het |
| Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
| Dnajc21 |
T |
C |
15: 10,460,019 (GRCm39) |
|
probably null |
Het |
| Fam217a |
T |
C |
13: 35,094,239 (GRCm39) |
T416A |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,231,461 (GRCm39) |
Q375L |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| H2-T24 |
A |
T |
17: 36,326,376 (GRCm39) |
N174K |
possibly damaging |
Het |
| Heatr3 |
T |
C |
8: 88,897,630 (GRCm39) |
|
probably benign |
Het |
| Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
| Naaa |
C |
T |
5: 92,420,413 (GRCm39) |
|
probably null |
Het |
| Nbea |
A |
G |
3: 55,915,848 (GRCm39) |
C875R |
probably damaging |
Het |
| Nme1 |
G |
A |
11: 93,851,630 (GRCm39) |
T87I |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,915,663 (GRCm39) |
S124P |
probably benign |
Het |
| Nrap |
C |
T |
19: 56,338,759 (GRCm39) |
V907M |
probably damaging |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Or4f59 |
G |
T |
2: 111,872,873 (GRCm39) |
P168Q |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,336 (GRCm39) |
N464S |
probably damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,529,078 (GRCm39) |
I75V |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,277,914 (GRCm39) |
P416S |
probably damaging |
Het |
| Saal1 |
A |
G |
7: 46,360,076 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
G |
9: 113,925,053 (GRCm39) |
E312G |
probably benign |
Het |
| Tgfb2 |
T |
A |
1: 186,361,222 (GRCm39) |
D315V |
possibly damaging |
Het |
| Tll1 |
C |
T |
8: 64,494,545 (GRCm39) |
D737N |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,155,538 (GRCm39) |
D490G |
probably damaging |
Het |
| Vmn1r72 |
C |
T |
7: 11,403,995 (GRCm39) |
R151K |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,395 (GRCm39) |
F317Y |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Zfp560 |
A |
G |
9: 20,258,744 (GRCm39) |
I706T |
probably benign |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
|
| Other mutations in Tmem115 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Tmem115
|
APN |
9 |
107,411,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01142:Tmem115
|
APN |
9 |
107,411,844 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01386:Tmem115
|
APN |
9 |
107,411,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01705:Tmem115
|
APN |
9 |
107,412,403 (GRCm39) |
missense |
probably benign |
0.44 |
|
Gooseneck
|
UTSW |
9 |
107,411,993 (GRCm39) |
unclassified |
probably benign |
|
|
R0746:Tmem115
|
UTSW |
9 |
107,415,198 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1511:Tmem115
|
UTSW |
9 |
107,412,174 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4770:Tmem115
|
UTSW |
9 |
107,412,156 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5097:Tmem115
|
UTSW |
9 |
107,412,059 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5141:Tmem115
|
UTSW |
9 |
107,415,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5687:Tmem115
|
UTSW |
9 |
107,412,054 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7145:Tmem115
|
UTSW |
9 |
107,412,285 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8299:Tmem115
|
UTSW |
9 |
107,411,745 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8353:Tmem115
|
UTSW |
9 |
107,411,997 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8453:Tmem115
|
UTSW |
9 |
107,411,997 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8717:Tmem115
|
UTSW |
9 |
107,415,132 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8901:Tmem115
|
UTSW |
9 |
107,411,993 (GRCm39) |
unclassified |
probably benign |
|
|
R9017:Tmem115
|
UTSW |
9 |
107,411,880 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9384:Tmem115
|
UTSW |
9 |
107,411,742 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0067:Tmem115
|
UTSW |
9 |
107,411,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTATCAGCGCCATAGCCG -3'
(R):5'- ACCTACACATTCAGTTCCCTCGAG -3'
Sequencing Primer
(F):5'- CATAGCCGGGGCCGAGG -3'
(R):5'- ATTCAGTTCCCTCGAGGCCAAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation