Incidental Mutation 'R5989:Tmem200c'
| ID |
481906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem200c
|
| Ensembl Gene |
ENSMUSG00000095407 |
| Gene Name |
transmembrane protein 200C |
| Synonyms |
Gm6338 |
| MMRRC Submission |
044169-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5989 (G1)
|
| Quality Score |
207.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
69144084-69150133 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to T
at 69144431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178545]
|
| AlphaFold |
J3QK46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178545
|
| SMART Domains |
Protein: ENSMUSP00000137246
Gene: ENSMUSG00000095407
| 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: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cartpt |
T |
A |
13: 100,035,492 (GRCm39) |
I109F |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,454,160 (GRCm39) |
P3562L |
possibly damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,796,024 (GRCm39) |
D118G |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
| Drgx |
A |
G |
14: 32,330,145 (GRCm39) |
N116S |
probably benign |
Het |
| Ebf1 |
G |
T |
11: 44,886,998 (GRCm39) |
C565F |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,721 (GRCm39) |
R97G |
probably benign |
Het |
| Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
| Gm42417 |
A |
G |
1: 36,571,273 (GRCm39) |
F183L |
probably damaging |
Het |
| Ipcef1 |
A |
T |
10: 6,929,532 (GRCm39) |
Y69* |
probably null |
Het |
| Lcp1 |
A |
T |
14: 75,436,827 (GRCm39) |
M58L |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,480,098 (GRCm39) |
T55A |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,361,778 (GRCm39) |
V162A |
probably benign |
Het |
| Nmral1 |
G |
A |
16: 4,536,902 (GRCm39) |
|
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,697 (GRCm39) |
W50R |
probably benign |
Het |
| Panx2 |
T |
C |
15: 88,944,455 (GRCm39) |
L60P |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,780,433 (GRCm39) |
N411D |
probably benign |
Het |
| Ramacl |
G |
A |
13: 67,056,050 (GRCm39) |
M14I |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rttn |
G |
A |
18: 88,991,750 (GRCm39) |
D110N |
probably damaging |
Het |
| Sfta2 |
G |
T |
17: 35,960,672 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
A |
G |
13: 24,026,411 (GRCm39) |
|
probably benign |
Het |
| Spem1 |
G |
A |
11: 69,711,951 (GRCm39) |
P238S |
possibly damaging |
Het |
| Trpm2 |
A |
G |
10: 77,795,734 (GRCm39) |
F131S |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,126,402 (GRCm39) |
S117P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,699 (GRCm39) |
P556L |
probably damaging |
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 |
|
R6024:Tmem200c
|
UTSW |
17 |
69,148,722 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6634:Tmem200c
|
UTSW |
17 |
69,149,101 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation