Incidental Mutation 'R0746:Tmem115'
| ID |
70136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem115
|
| Ensembl Gene |
ENSMUSG00000010045 |
| Gene Name |
transmembrane protein 115 |
| Synonyms |
Pl6 |
| MMRRC Submission |
038927-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R0746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107411144-107415855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107415198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 329
(T329M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010189]
[ENSMUST00000010201]
[ENSMUST00000041459]
[ENSMUST00000195370]
[ENSMUST00000194967]
[ENSMUST00000195235]
|
| AlphaFold |
Q9WUH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010189
AA Change: T329M
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045
AA Change: T329M
| 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: ENSMUST00000010201
|
| SMART Domains |
Protein: ENSMUSP00000010201
Gene: ENSMUSG00000010057
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPR2
|
5 |
279 |
1.7e-75 |
PFAM |
|
Pfam:NPR2
|
269 |
373 |
1.1e-19 |
PFAM |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000193628
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194906
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195370
|
| SMART Domains |
Protein: ENSMUSP00000141746
Gene: ENSMUSG00000010057
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPR2
|
2 |
156 |
1.2e-52 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
C |
17: 79,935,715 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,390,562 (GRCm39) |
M1V |
probably null |
Het |
| Adamts10 |
T |
A |
17: 33,768,521 (GRCm39) |
C866* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,718,675 (GRCm39) |
P4S |
probably benign |
Het |
| Arhgef37 |
A |
G |
18: 61,651,064 (GRCm39) |
|
probably null |
Het |
| Arid4b |
A |
G |
13: 14,317,623 (GRCm39) |
T169A |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,316 (GRCm39) |
I829K |
probably benign |
Het |
| Cabp7 |
A |
T |
11: 4,688,900 (GRCm39) |
I190N |
probably damaging |
Het |
| Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,916,096 (GRCm39) |
F177S |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,308,090 (GRCm39) |
C1283S |
probably damaging |
Het |
| Cul1 |
T |
C |
6: 47,495,222 (GRCm39) |
|
probably null |
Het |
| F7 |
T |
G |
8: 13,084,740 (GRCm39) |
S255R |
probably benign |
Het |
| Fanci |
T |
A |
7: 79,089,429 (GRCm39) |
I955N |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,315,451 (GRCm39) |
D1536E |
possibly damaging |
Het |
| Fus |
A |
G |
7: 127,584,596 (GRCm39) |
|
probably benign |
Het |
| Gpr146 |
C |
T |
5: 139,378,977 (GRCm39) |
R260W |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 34,544,647 (GRCm39) |
F73L |
possibly damaging |
Het |
| Ilf2 |
T |
A |
3: 90,390,114 (GRCm39) |
V142D |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,484 (GRCm39) |
D355G |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,548 (GRCm39) |
F254S |
probably damaging |
Het |
| Mrps10 |
A |
C |
17: 47,683,564 (GRCm39) |
R139S |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,064,257 (GRCm39) |
T71A |
probably benign |
Het |
| Myo1d |
A |
C |
11: 80,477,705 (GRCm39) |
Y893D |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,151,227 (GRCm39) |
E760G |
possibly damaging |
Het |
| Or10ab5 |
A |
T |
7: 108,245,248 (GRCm39) |
D178E |
probably damaging |
Het |
| Or11h6 |
T |
A |
14: 50,880,232 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,268,331 (GRCm39) |
D3349V |
probably damaging |
Het |
| Ptprn2 |
A |
C |
12: 116,864,637 (GRCm39) |
M551L |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,353,692 (GRCm39) |
Y2275H |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,526,388 (GRCm39) |
T1193A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,559,394 (GRCm39) |
D815G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,181,470 (GRCm39) |
T18S |
probably benign |
Het |
| Septin5 |
T |
C |
16: 18,441,975 (GRCm39) |
H277R |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,173 (GRCm39) |
S377G |
probably benign |
Het |
| Snx2 |
T |
A |
18: 53,330,961 (GRCm39) |
I142K |
possibly damaging |
Het |
| Spata31d1a |
C |
A |
13: 59,850,077 (GRCm39) |
D684Y |
possibly damaging |
Het |
| Taar6 |
C |
A |
10: 23,861,258 (GRCm39) |
S96I |
probably benign |
Het |
| Thsd7b |
C |
A |
1: 130,116,268 (GRCm39) |
H1340Q |
probably benign |
Het |
| Tmem50b |
C |
T |
16: 91,378,578 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
T |
1: 175,620,539 (GRCm39) |
D316V |
possibly damaging |
Het |
| Yars1 |
C |
A |
4: 129,091,079 (GRCm39) |
S162R |
probably damaging |
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 |
|
|
R1511:Tmem115
|
UTSW |
9 |
107,412,174 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4182:Tmem115
|
UTSW |
9 |
107,412,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACGTGGGATTTGGAGGCAAACC -3'
(R):5'- TGTTGTCCAGACACAGCGGAAG -3'
Sequencing Primer
(F):5'- CAGAGTATGTTGGTCTCCCAAAC -3'
(R):5'- CGGAAGGCCACAGGAACC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation