Incidental Mutation 'IGL00786:Tmem168'
| ID |
14491 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem168
|
| Ensembl Gene |
ENSMUSG00000029569 |
| Gene Name |
transmembrane protein 168 |
| Synonyms |
8430437G11Rik, 5730526F17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL00786
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
13580688-13608097 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13602674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 231
(I231V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031554]
[ENSMUST00000149123]
|
| AlphaFold |
Q91VX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031554
AA Change: I231V
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000031554
Gene: ENSMUSG00000029569
AA Change: I231V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
170 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
199 |
216 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
|
transmembrane domain
|
298 |
320 |
N/A |
INTRINSIC |
|
transmembrane domain
|
359 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146139
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149123
|
| SMART Domains |
Protein: ENSMUSP00000145372
Gene: ENSMUSG00000029569
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jxqa_
|
29 |
167 |
8e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155179
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
C |
2: 35,265,851 (GRCm39) |
N242S |
probably benign |
Het |
| Akap9 |
C |
A |
5: 4,120,522 (GRCm39) |
A3646E |
probably damaging |
Het |
| Akt1 |
C |
A |
12: 112,624,105 (GRCm39) |
G233V |
probably damaging |
Het |
| B3gat3 |
A |
G |
19: 8,904,149 (GRCm39) |
E320G |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,098,266 (GRCm39) |
I136N |
probably damaging |
Het |
| Bpifa5 |
G |
A |
2: 154,009,172 (GRCm39) |
C238Y |
probably damaging |
Het |
| Camkmt |
T |
C |
17: 85,403,919 (GRCm39) |
V47A |
probably damaging |
Het |
| Ccnl2 |
C |
T |
4: 155,905,337 (GRCm39) |
R284W |
probably damaging |
Het |
| Chl1 |
G |
T |
6: 103,652,106 (GRCm39) |
V341F |
probably damaging |
Het |
| Cst3 |
A |
T |
2: 148,714,797 (GRCm39) |
C93* |
probably null |
Het |
| Ctsh |
T |
C |
9: 89,946,291 (GRCm39) |
V119A |
probably damaging |
Het |
| Dmap1 |
C |
T |
4: 117,533,593 (GRCm39) |
R225Q |
possibly damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,050,460 (GRCm39) |
S479P |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,936,507 (GRCm39) |
Y528C |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| G6pc3 |
A |
G |
11: 102,083,931 (GRCm39) |
M186V |
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,317 (GRCm39) |
V509A |
possibly damaging |
Het |
| Heatr5b |
G |
T |
17: 79,132,063 (GRCm39) |
H347N |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,205,402 (GRCm39) |
S188P |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,910,001 (GRCm39) |
V118A |
probably benign |
Het |
| Mthfsd |
C |
T |
8: 121,831,207 (GRCm39) |
R91Q |
probably damaging |
Het |
| Otor |
G |
A |
2: 142,921,846 (GRCm39) |
V86I |
probably damaging |
Het |
| Pdk2 |
T |
A |
11: 94,922,761 (GRCm39) |
T140S |
probably benign |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,929 (GRCm39) |
N78S |
probably benign |
Het |
| Rimbp3 |
C |
T |
16: 17,029,552 (GRCm39) |
T992M |
probably damaging |
Het |
| Sdad1 |
A |
T |
5: 92,451,632 (GRCm39) |
|
probably null |
Het |
| Sidt2 |
A |
G |
9: 45,861,101 (GRCm39) |
S71P |
possibly damaging |
Het |
| Slc44a2 |
T |
A |
9: 21,257,231 (GRCm39) |
V390E |
probably damaging |
Het |
| Vim |
T |
C |
2: 13,583,321 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tmem168 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Tmem168
|
APN |
6 |
13,583,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01843:Tmem168
|
APN |
6 |
13,582,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02742:Tmem168
|
APN |
6 |
13,603,261 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02863:Tmem168
|
APN |
6 |
13,582,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
ANU22:Tmem168
|
UTSW |
6 |
13,583,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Tmem168
|
UTSW |
6 |
13,583,312 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0537:Tmem168
|
UTSW |
6 |
13,603,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Tmem168
|
UTSW |
6 |
13,583,064 (GRCm39) |
missense |
probably benign |
|
|
R0890:Tmem168
|
UTSW |
6 |
13,603,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Tmem168
|
UTSW |
6 |
13,591,400 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1900:Tmem168
|
UTSW |
6 |
13,583,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3947:Tmem168
|
UTSW |
6 |
13,583,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4362:Tmem168
|
UTSW |
6 |
13,595,072 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4620:Tmem168
|
UTSW |
6 |
13,594,952 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5693:Tmem168
|
UTSW |
6 |
13,602,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6142:Tmem168
|
UTSW |
6 |
13,591,368 (GRCm39) |
missense |
probably benign |
|
|
R6328:Tmem168
|
UTSW |
6 |
13,602,710 (GRCm39) |
missense |
probably benign |
|
|
R6438:Tmem168
|
UTSW |
6 |
13,602,673 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6711:Tmem168
|
UTSW |
6 |
13,603,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6827:Tmem168
|
UTSW |
6 |
13,582,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6987:Tmem168
|
UTSW |
6 |
13,591,476 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7696:Tmem168
|
UTSW |
6 |
13,602,937 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8295:Tmem168
|
UTSW |
6 |
13,602,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8344:Tmem168
|
UTSW |
6 |
13,583,324 (GRCm39) |
missense |
probably benign |
|
|
R8432:Tmem168
|
UTSW |
6 |
13,602,535 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8992:Tmem168
|
UTSW |
6 |
13,602,849 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9003:Tmem168
|
UTSW |
6 |
13,591,446 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9325:Tmem168
|
UTSW |
6 |
13,583,253 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation