Incidental Mutation 'R6438:Tmem168'
| ID |
518856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem168
|
| Ensembl Gene |
ENSMUSG00000029569 |
| Gene Name |
transmembrane protein 168 |
| Synonyms |
8430437G11Rik, 5730526F17Rik |
| MMRRC Submission |
044576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R6438 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
13580688-13608097 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13602673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 231
(I231N)
|
| 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: I231N
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000031554
Gene: ENSMUSG00000029569
AA Change: I231N
| 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
|
| Meta Mutation Damage Score |
0.1346 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
A |
T |
10: 67,384,371 (GRCm39) |
I78N |
probably damaging |
Het |
| Arhgap18 |
T |
C |
10: 26,648,694 (GRCm39) |
|
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,393 (GRCm39) |
T68A |
probably benign |
Het |
| Atxn2 |
T |
A |
5: 121,917,495 (GRCm39) |
I463N |
probably damaging |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| C1ra |
C |
T |
6: 124,490,736 (GRCm39) |
T43I |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,826,465 (GRCm39) |
Y683N |
possibly damaging |
Het |
| Catspere2 |
T |
C |
1: 177,938,869 (GRCm39) |
Y581H |
possibly damaging |
Het |
| Cdk12 |
T |
A |
11: 98,115,293 (GRCm39) |
Y811* |
probably null |
Het |
| Cfap20dc |
C |
T |
14: 8,431,701 (GRCm38) |
V644M |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,725,149 (GRCm39) |
E1159D |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,766,969 (GRCm39) |
S505T |
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,401,390 (GRCm39) |
Y13F |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,572,031 (GRCm39) |
C770S |
probably damaging |
Het |
| Evpl |
C |
A |
11: 116,120,927 (GRCm39) |
R436L |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,663,970 (GRCm39) |
|
probably null |
Het |
| Gm17078 |
A |
G |
14: 51,848,695 (GRCm39) |
V14A |
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,596,242 (GRCm39) |
*776Q |
probably null |
Het |
| Ldb2 |
T |
C |
5: 44,637,652 (GRCm39) |
R219G |
probably damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,712,062 (GRCm39) |
E587G |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 15,619,017 (GRCm39) |
S294P |
|
Het |
| Map7 |
A |
G |
10: 20,143,003 (GRCm39) |
E384G |
unknown |
Het |
| Miga1 |
T |
C |
3: 152,028,040 (GRCm39) |
D163G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,099,382 (GRCm39) |
S1680F |
probably damaging |
Het |
| Nell2 |
C |
T |
15: 95,130,379 (GRCm39) |
V665M |
probably damaging |
Het |
| Npas3 |
T |
C |
12: 54,115,481 (GRCm39) |
V770A |
probably damaging |
Het |
| Pcm1 |
C |
T |
8: 41,778,418 (GRCm39) |
R1818W |
possibly damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,668,740 (GRCm39) |
N701K |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,749,022 (GRCm39) |
V187A |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,725 (GRCm39) |
C654S |
probably damaging |
Het |
| Srek1ip1 |
A |
G |
13: 104,973,878 (GRCm39) |
Y95C |
probably benign |
Het |
| Synpo2l |
A |
G |
14: 20,711,204 (GRCm39) |
V472A |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,314,266 (GRCm39) |
M717T |
probably benign |
Het |
| Zfp672 |
T |
C |
11: 58,207,563 (GRCm39) |
T253A |
probably benign |
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 |
|
|
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 |
|
|
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'- TCACAAAATACCAGAGATGAGTGTC -3'
(R):5'- CCACAGTGGAGTTTCTGGAAC -3'
Sequencing Primer
(F):5'- TGAGTGTCTCTAAGTTTAAATGCTG -3'
(R):5'- CCAGCACAACTATGTTGGTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation