Incidental Mutation 'R5693:Tmem168'
ID |
443767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem168
|
Ensembl Gene |
ENSMUSG00000029569 |
Gene Name |
transmembrane protein 168 |
Synonyms |
8430437G11Rik, 5730526F17Rik |
MMRRC Submission |
043180-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R5693 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
13580688-13608097 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13602320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 349
(M349V)
|
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: M349V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000031554 Gene: ENSMUSG00000029569 AA Change: M349V
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,266,233 (GRCm39) |
I3071V |
probably benign |
Het |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Abr |
T |
C |
11: 76,354,403 (GRCm39) |
N236S |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,501,870 (GRCm39) |
Y248C |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
Chd6 |
A |
T |
2: 160,807,185 (GRCm39) |
S2010T |
probably benign |
Het |
Dcc |
G |
A |
18: 71,708,153 (GRCm39) |
T521I |
probably damaging |
Het |
Dmrtb1 |
G |
A |
4: 107,541,366 (GRCm39) |
|
probably benign |
Het |
Evc |
A |
G |
5: 37,477,584 (GRCm39) |
V365A |
possibly damaging |
Het |
Gata4 |
A |
G |
14: 63,478,594 (GRCm39) |
Y2H |
probably damaging |
Het |
Gpc1 |
A |
G |
1: 92,785,621 (GRCm39) |
N437S |
probably damaging |
Het |
Lifr |
T |
C |
15: 7,205,041 (GRCm39) |
V426A |
probably damaging |
Het |
Lpin3 |
A |
G |
2: 160,737,320 (GRCm39) |
I122M |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,597,181 (GRCm39) |
N3174D |
possibly damaging |
Het |
Myo6 |
G |
A |
9: 80,173,462 (GRCm39) |
R534H |
probably damaging |
Het |
Nectin2 |
T |
C |
7: 19,458,794 (GRCm39) |
D339G |
probably benign |
Het |
Oprd1 |
G |
A |
4: 131,871,721 (GRCm39) |
|
probably benign |
Het |
Or6c66 |
T |
C |
10: 129,461,396 (GRCm39) |
D178G |
probably damaging |
Het |
Orc1 |
G |
A |
4: 108,470,276 (GRCm39) |
V751I |
probably benign |
Het |
Pacs2 |
T |
C |
12: 113,013,526 (GRCm39) |
S175P |
probably damaging |
Het |
Pik3r5 |
C |
T |
11: 68,385,077 (GRCm39) |
R661C |
probably damaging |
Het |
Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
Prkar1b |
A |
G |
5: 139,113,400 (GRCm39) |
V40A |
possibly damaging |
Het |
Ptprf |
G |
A |
4: 118,093,374 (GRCm39) |
R90* |
probably null |
Het |
Rasef |
T |
C |
4: 73,688,076 (GRCm39) |
M26V |
probably damaging |
Het |
Rfx1 |
C |
A |
8: 84,800,533 (GRCm39) |
Q45K |
unknown |
Het |
Rnf183 |
A |
G |
4: 62,346,753 (GRCm39) |
V15A |
possibly damaging |
Het |
Slc10a2 |
C |
A |
8: 5,155,128 (GRCm39) |
C19F |
probably damaging |
Het |
Slc14a2 |
T |
A |
18: 78,190,229 (GRCm39) |
I907F |
probably benign |
Het |
Snx16 |
T |
C |
3: 10,485,318 (GRCm39) |
I293V |
probably benign |
Het |
Srcap |
C |
A |
7: 127,118,988 (GRCm39) |
A97E |
probably damaging |
Het |
Thyn1 |
G |
T |
9: 26,916,511 (GRCm39) |
|
probably null |
Het |
Tiparp |
T |
C |
3: 65,460,913 (GRCm39) |
I634T |
possibly damaging |
Het |
Tjp1 |
G |
A |
7: 64,992,411 (GRCm39) |
A156V |
possibly damaging |
Het |
Tyro3 |
T |
G |
2: 119,641,349 (GRCm39) |
F519L |
probably damaging |
Het |
Vmn1r167 |
A |
T |
7: 23,204,646 (GRCm39) |
Y123* |
probably null |
Het |
Vmn1r183 |
C |
T |
7: 23,754,227 (GRCm39) |
T10I |
possibly damaging |
Het |
Zfp654 |
T |
C |
16: 64,606,289 (GRCm39) |
T97A |
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 |
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'- GGCATAGGTATCCTGAGATCG -3'
(R):5'- GCTTTTCACTGCAATGATTGAGC -3'
Sequencing Primer
(F):5'- CTGAGATCGTCAGCATTTAGCAC -3'
(R):5'- GAGACACTCATCTCTGGTATTTTG -3'
|
Posted On |
2016-11-09 |