Incidental Mutation 'R2189:Tmem200c'
ID |
237995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem200c
|
Ensembl Gene |
ENSMUSG00000095407 |
Gene Name |
transmembrane protein 200C |
Synonyms |
Gm6338 |
MMRRC Submission |
040191-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R2189 (G1)
|
Quality Score |
224 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
69144084-69150133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69147681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 88
(Q88R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178545]
|
AlphaFold |
J3QK46 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178545
AA Change: Q88R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137246 Gene: ENSMUSG00000095407 AA Change: Q88R
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: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
possibly 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 |
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 |
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 |
PCR Primer
(F):5'- TGCGAGAAAGCAGGATCCTC -3'
(R):5'- CTGAGTGCAAGTAGCCTGAG -3'
Sequencing Primer
(F):5'- CAGGTCCCTAAGCGCAAGAG -3'
(R):5'- TGCAAGTAGCCTGAGAAGATTC -3'
|
Posted On |
2014-10-02 |