Incidental Mutation 'R6634:Tmem200c'
ID |
525416 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem200c
|
Ensembl Gene |
ENSMUSG00000095407 |
Gene Name |
transmembrane protein 200C |
Synonyms |
Gm6338 |
MMRRC Submission |
044756-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R6634 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
69144084-69150133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 69149101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 561
(D561E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178545]
|
AlphaFold |
J3QK46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000178545
AA Change: D561E
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000137246 Gene: ENSMUSG00000095407 AA Change: D561E
Domain | Start | End | E-Value | Type |
Pfam:DUF2371
|
14 |
209 |
4.1e-65 |
PFAM |
SCOP:d1gkub1
|
227 |
258 |
2e-3 |
SMART |
low complexity region
|
272 |
291 |
N/A |
INTRINSIC |
low complexity region
|
347 |
377 |
N/A |
INTRINSIC |
low complexity region
|
382 |
398 |
N/A |
INTRINSIC |
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
low complexity region
|
496 |
509 |
N/A |
INTRINSIC |
low complexity region
|
538 |
550 |
N/A |
INTRINSIC |
low complexity region
|
584 |
599 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
97% (31/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,094,127 (GRCm39) |
|
probably null |
Het |
Alox12b |
C |
A |
11: 69,059,647 (GRCm39) |
Y566* |
probably null |
Het |
Chl1 |
T |
A |
6: 103,667,220 (GRCm39) |
S403R |
probably damaging |
Het |
Cpa5 |
T |
A |
6: 30,626,363 (GRCm39) |
D241E |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Cyp2t4 |
C |
A |
7: 26,855,213 (GRCm39) |
C121* |
probably null |
Het |
Dkkl1 |
C |
A |
7: 44,859,882 (GRCm39) |
R56L |
possibly damaging |
Het |
Ebf3 |
A |
G |
7: 136,802,889 (GRCm39) |
V387A |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,784,609 (GRCm39) |
M2797T |
probably benign |
Het |
Fer1l5 |
A |
G |
1: 36,450,466 (GRCm39) |
T1212A |
probably damaging |
Het |
Galnt16 |
T |
A |
12: 80,565,944 (GRCm39) |
M1K |
probably null |
Het |
Gm5800 |
A |
G |
14: 51,953,595 (GRCm39) |
S7P |
possibly damaging |
Het |
Gstp1 |
T |
A |
19: 4,085,510 (GRCm39) |
H199L |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,345,026 (GRCm39) |
S1940P |
probably benign |
Het |
Igkv8-24 |
C |
T |
6: 70,194,365 (GRCm39) |
W14* |
probably null |
Het |
Iqcd |
C |
A |
5: 120,738,556 (GRCm39) |
Q125K |
probably benign |
Het |
Lpin2 |
T |
A |
17: 71,553,413 (GRCm39) |
D812E |
probably damaging |
Het |
Ltb4r2 |
T |
A |
14: 55,999,962 (GRCm39) |
|
probably null |
Het |
Morc2a |
T |
C |
11: 3,622,376 (GRCm39) |
|
probably null |
Het |
Myh1 |
A |
T |
11: 67,099,890 (GRCm39) |
N600I |
possibly damaging |
Het |
Nedd9 |
T |
A |
13: 41,465,584 (GRCm39) |
K685N |
probably damaging |
Het |
Or10aa3 |
A |
G |
1: 173,878,535 (GRCm39) |
I199V |
probably benign |
Het |
Otogl |
A |
C |
10: 107,698,165 (GRCm39) |
V735G |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 81,964,656 (GRCm39) |
Y274* |
probably null |
Het |
Pias1 |
A |
T |
9: 62,826,706 (GRCm39) |
I252N |
probably damaging |
Het |
Pitpnm3 |
T |
C |
11: 71,942,755 (GRCm39) |
D844G |
probably null |
Het |
Satb2 |
G |
T |
1: 56,884,880 (GRCm39) |
S348* |
probably null |
Het |
Sfxn1 |
T |
A |
13: 54,247,048 (GRCm39) |
V180D |
probably damaging |
Het |
Slc35g3 |
A |
T |
11: 69,651,109 (GRCm39) |
V314D |
probably damaging |
Het |
Usp53 |
T |
A |
3: 122,757,935 (GRCm39) |
Q69L |
probably benign |
Het |
|
Other mutations in Tmem200c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0360:Tmem200c
|
UTSW |
17 |
69,147,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R0364:Tmem200c
|
UTSW |
17 |
69,147,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R0599:Tmem200c
|
UTSW |
17 |
69,147,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R0711:Tmem200c
|
UTSW |
17 |
69,149,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R1311:Tmem200c
|
UTSW |
17 |
69,147,758 (GRCm39) |
missense |
probably damaging |
0.98 |
R1852:Tmem200c
|
UTSW |
17 |
69,147,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R1951:Tmem200c
|
UTSW |
17 |
69,147,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Tmem200c
|
UTSW |
17 |
69,147,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Tmem200c
|
UTSW |
17 |
69,147,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Tmem200c
|
UTSW |
17 |
69,149,244 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2189:Tmem200c
|
UTSW |
17 |
69,147,681 (GRCm39) |
missense |
probably damaging |
0.98 |
R2397:Tmem200c
|
UTSW |
17 |
69,147,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R4546:Tmem200c
|
UTSW |
17 |
69,149,166 (GRCm39) |
missense |
probably benign |
|
R4715:Tmem200c
|
UTSW |
17 |
69,147,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R4752:Tmem200c
|
UTSW |
17 |
69,149,235 (GRCm39) |
missense |
probably benign |
0.05 |
R5214:Tmem200c
|
UTSW |
17 |
69,148,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R5751:Tmem200c
|
UTSW |
17 |
69,147,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R5827:Tmem200c
|
UTSW |
17 |
69,149,004 (GRCm39) |
missense |
probably benign |
0.00 |
R5989:Tmem200c
|
UTSW |
17 |
69,144,431 (GRCm39) |
start gained |
probably benign |
|
R6024:Tmem200c
|
UTSW |
17 |
69,148,722 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7527:Tmem200c
|
UTSW |
17 |
69,148,671 (GRCm39) |
missense |
probably benign |
0.04 |
R8046:Tmem200c
|
UTSW |
17 |
69,147,513 (GRCm39) |
missense |
probably benign |
0.29 |
R8927:Tmem200c
|
UTSW |
17 |
69,148,733 (GRCm39) |
missense |
probably benign |
0.00 |
R8928:Tmem200c
|
UTSW |
17 |
69,148,733 (GRCm39) |
missense |
probably benign |
0.00 |
R9185:Tmem200c
|
UTSW |
17 |
69,147,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R9241:Tmem200c
|
UTSW |
17 |
69,144,161 (GRCm39) |
start gained |
probably benign |
|
R9374:Tmem200c
|
UTSW |
17 |
69,148,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R9651:Tmem200c
|
UTSW |
17 |
69,149,181 (GRCm39) |
missense |
probably benign |
0.02 |
R9652:Tmem200c
|
UTSW |
17 |
69,149,181 (GRCm39) |
missense |
probably benign |
0.02 |
R9653:Tmem200c
|
UTSW |
17 |
69,149,181 (GRCm39) |
missense |
probably benign |
0.02 |
R9775:Tmem200c
|
UTSW |
17 |
69,149,118 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tmem200c
|
UTSW |
17 |
69,148,790 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Tmem200c
|
UTSW |
17 |
69,148,339 (GRCm39) |
missense |
probably benign |
0.26 |
Z1177:Tmem200c
|
UTSW |
17 |
69,148,332 (GRCm39) |
missense |
probably benign |
0.13 |
Z1177:Tmem200c
|
UTSW |
17 |
69,148,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGGACCTGAGCCTGAC -3'
(R):5'- GGAAATGAGGAAGAGTTTCTCCTTG -3'
Sequencing Primer
(F):5'- AGTGGGCTCCCGGACTATC -3'
(R):5'- GTTTGTAAACTGCCTCTGCACAGAC -3'
|
Posted On |
2018-06-22 |