Incidental Mutation 'R6827:Tmem168'
ID |
534203 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem168
|
Ensembl Gene |
ENSMUSG00000029569 |
Gene Name |
transmembrane protein 168 |
Synonyms |
8430437G11Rik, 5730526F17Rik |
MMRRC Submission |
044938-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R6827 (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 13582837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 297
(F297L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145372
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031554]
[ENSMUST00000149123]
|
AlphaFold |
Q91VX9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031554
AA Change: F681L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031554 Gene: ENSMUSG00000029569 AA Change: F681L
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 |
probably damaging
Transcript: ENSMUST00000149123
AA Change: F297L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000145372 Gene: ENSMUSG00000029569 AA Change: F297L
Domain | Start | End | E-Value | Type |
SCOP:d1jxqa_
|
29 |
167 |
8e-3 |
SMART |
|
Meta Mutation Damage Score |
0.1661 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef26 |
C |
A |
3: 62,330,919 (GRCm39) |
|
probably null |
Het |
Asb3 |
A |
G |
11: 31,051,211 (GRCm39) |
N555S |
probably benign |
Het |
Bcr |
T |
C |
10: 74,966,896 (GRCm39) |
V501A |
probably damaging |
Het |
Cchcr1 |
A |
G |
17: 35,841,302 (GRCm39) |
T773A |
possibly damaging |
Het |
Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
Dscam |
T |
A |
16: 96,840,191 (GRCm39) |
N139Y |
probably damaging |
Het |
Ephx1 |
A |
G |
1: 180,817,453 (GRCm39) |
L406P |
probably damaging |
Het |
Fbxl13 |
T |
A |
5: 21,727,176 (GRCm39) |
I607F |
probably damaging |
Het |
Gm3573 |
T |
A |
14: 42,010,429 (GRCm39) |
T59S |
probably benign |
Het |
Gm572 |
T |
C |
4: 148,742,543 (GRCm39) |
L94P |
possibly damaging |
Het |
Gypa |
A |
T |
8: 81,231,417 (GRCm39) |
M109L |
probably benign |
Het |
Hk3 |
C |
A |
13: 55,159,165 (GRCm39) |
V409L |
probably damaging |
Het |
Kcnh6 |
A |
G |
11: 105,899,925 (GRCm39) |
T65A |
probably benign |
Het |
Kdr |
G |
T |
5: 76,105,205 (GRCm39) |
P1055Q |
probably damaging |
Het |
Lef1 |
T |
C |
3: 130,994,053 (GRCm39) |
|
probably null |
Het |
Lrrc10 |
A |
G |
10: 116,881,545 (GRCm39) |
Q73R |
possibly damaging |
Het |
Moxd1 |
C |
T |
10: 24,155,748 (GRCm39) |
T284I |
probably benign |
Het |
Naf1 |
A |
T |
8: 67,330,343 (GRCm39) |
T290S |
possibly damaging |
Het |
Naip5 |
C |
A |
13: 100,382,437 (GRCm39) |
V91L |
possibly damaging |
Het |
Ncaph2 |
T |
C |
15: 89,255,530 (GRCm39) |
V568A |
probably damaging |
Het |
Ntrk2 |
T |
C |
13: 59,274,382 (GRCm39) |
W753R |
probably damaging |
Het |
Or51v15-ps1 |
C |
A |
7: 103,279,032 (GRCm39) |
C45F |
possibly damaging |
Het |
Pbld1 |
C |
A |
10: 62,903,212 (GRCm39) |
N96K |
probably damaging |
Het |
Pcdhac2 |
G |
A |
18: 37,277,706 (GRCm39) |
V229M |
probably benign |
Het |
Prrc2b |
G |
T |
2: 32,090,963 (GRCm39) |
R445L |
probably benign |
Het |
Scyl2 |
T |
C |
10: 89,505,666 (GRCm39) |
|
probably null |
Het |
Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
Slc22a5 |
A |
T |
11: 53,762,442 (GRCm39) |
I21N |
possibly damaging |
Het |
Tex51 |
C |
T |
18: 32,591,713 (GRCm39) |
W186* |
probably null |
Het |
Trpm4 |
T |
C |
7: 44,968,052 (GRCm39) |
E293G |
possibly damaging |
Het |
Trps1 |
T |
A |
15: 50,685,959 (GRCm39) |
T69S |
probably benign |
Het |
Ubxn4 |
T |
C |
1: 128,204,714 (GRCm39) |
M468T |
probably benign |
Het |
Unc5b |
C |
A |
10: 60,616,011 (GRCm39) |
R104L |
probably benign |
Het |
Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
Wnt2b |
A |
G |
3: 104,854,408 (GRCm39) |
V350A |
probably benign |
Het |
Zfp518b |
T |
C |
5: 38,828,882 (GRCm39) |
Q1041R |
probably damaging |
Het |
Zranb1 |
T |
C |
7: 132,551,474 (GRCm39) |
F68L |
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 |
|
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 |
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'- AGCATTTTCATGACCCTCCATATAC -3'
(R):5'- TGTATGGCGTGTCAAAGCG -3'
Sequencing Primer
(F):5'- AATCATGCATATTCCCAATATCTTCC -3'
(R):5'- TGTCAAAGCGCTGGAGC -3'
|
Posted On |
2018-09-12 |