Incidental Mutation 'R0890:Tmem168'
| ID |
83463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem168
|
| Ensembl Gene |
ENSMUSG00000029569 |
| Gene Name |
transmembrane protein 168 |
| Synonyms |
8430437G11Rik, 5730526F17Rik |
| MMRRC Submission |
039053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R0890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
13580688-13608097 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13603271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 32
(S32T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031554]
[ENSMUST00000149123]
|
| AlphaFold |
Q91VX9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031554
AA Change: S32T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031554
Gene: ENSMUSG00000029569
AA Change: S32T
| 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 |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,051 (GRCm39) |
V240A |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
| Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
| Dcxr |
T |
A |
11: 120,617,297 (GRCm39) |
N82I |
probably damaging |
Het |
| Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
| Dhrs13 |
T |
A |
11: 77,925,176 (GRCm39) |
L99Q |
probably null |
Het |
| Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,113 (GRCm39) |
K207E |
possibly damaging |
Het |
| Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
| Kifc5b |
C |
T |
17: 27,141,996 (GRCm39) |
T158M |
possibly damaging |
Het |
| Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
| Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,777 (GRCm39) |
C149* |
probably null |
Het |
| Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
| Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
| Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,544 (GRCm39) |
H7L |
probably benign |
Het |
| Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,009,382 (GRCm39) |
D93G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,945 (GRCm39) |
E578G |
probably damaging |
Het |
| Vmn1r38 |
T |
G |
6: 66,753,514 (GRCm39) |
I201L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
probably damaging |
Het |
|
| Other mutations in Tmem168 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00786:Tmem168
|
APN |
6 |
13,602,674 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGGACATATCCAGAAATTCTCTCCAC -3'
(R):5'- GGCATTACCAACACCTTGGCTTTATTG -3'
Sequencing Primer
(F):5'- GAGAGACTTAAACTGGCTGCTTC -3'
(R):5'- CACCTTGGCTTTATTGAATGAAATAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation