Incidental Mutation 'IGL01115:Tmem115'
| ID |
51950 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem115
|
| Ensembl Gene |
ENSMUSG00000010045 |
| Gene Name |
transmembrane protein 115 |
| Synonyms |
Pl6 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
IGL01115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107411144-107415855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107411781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 35
(L35Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010189]
[ENSMUST00000041459]
[ENSMUST00000195235]
|
| AlphaFold |
Q9WUH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010189
AA Change: L35Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045
AA Change: L35Q
| 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 |
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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,352 (GRCm39) |
T934A |
probably benign |
Het |
| Ankzf1 |
T |
C |
1: 75,169,259 (GRCm39) |
L55P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,883,131 (GRCm39) |
S336P |
probably damaging |
Het |
| Bmper |
T |
C |
9: 23,310,985 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
A |
G |
6: 17,654,122 (GRCm39) |
N58S |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,146 (GRCm39) |
V75A |
probably damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,772 (GRCm39) |
S181P |
probably damaging |
Het |
| Colq |
A |
G |
14: 31,267,085 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,911,246 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
G |
8: 107,605,320 (GRCm39) |
T509A |
probably benign |
Het |
| Hsh2d |
T |
C |
8: 72,954,463 (GRCm39) |
S282P |
probably damaging |
Het |
| Impg2 |
C |
T |
16: 56,079,803 (GRCm39) |
P536S |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,580,228 (GRCm39) |
|
probably null |
Het |
| Napb |
T |
C |
2: 148,549,089 (GRCm39) |
Y111C |
probably damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,728 (GRCm39) |
D121G |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,876,682 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,347,210 (GRCm39) |
T1002A |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,284,068 (GRCm39) |
W122R |
probably damaging |
Het |
| Prpf19 |
C |
T |
19: 10,877,567 (GRCm39) |
T204M |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,695,796 (GRCm39) |
|
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,272,493 (GRCm39) |
D402E |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,916,422 (GRCm39) |
N1176S |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,346 (GRCm39) |
T1698A |
probably benign |
Het |
| Spata6l |
T |
C |
19: 28,921,842 (GRCm39) |
|
probably null |
Het |
| Speer2 |
C |
T |
16: 69,658,539 (GRCm39) |
W42* |
probably null |
Het |
| Taf5 |
T |
C |
19: 47,063,521 (GRCm39) |
V357A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,270 (GRCm39) |
S55P |
probably benign |
Het |
| Tmem30c |
T |
A |
16: 57,096,480 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,152 (GRCm39) |
D678G |
probably damaging |
Het |
| Ugt1a7c |
A |
T |
1: 88,022,967 (GRCm39) |
Q42L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,258,492 (GRCm39) |
V4099E |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,176,786 (GRCm39) |
L11F |
probably damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,554 (GRCm39) |
K193* |
probably null |
Het |
| Zranb2 |
T |
C |
3: 157,252,328 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmem115 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation