Incidental Mutation 'R3793:Tmem200a'
ID |
272660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem200a
|
Ensembl Gene |
ENSMUSG00000049420 |
Gene Name |
transmembrane protein 200A |
Synonyms |
C030003D03Rik |
MMRRC Submission |
040755-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R3793 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
25867080-25955713 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25870087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 61
(S61T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066049]
[ENSMUST00000218232]
[ENSMUST00000219338]
[ENSMUST00000219651]
[ENSMUST00000219872]
|
AlphaFold |
Q8C817 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066049
AA Change: S61T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064080 Gene: ENSMUSG00000049420 AA Change: S61T
Domain | Start | End | E-Value | Type |
Pfam:DUF2371
|
16 |
161 |
8.9e-62 |
PFAM |
low complexity region
|
262 |
279 |
N/A |
INTRINSIC |
low complexity region
|
387 |
401 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217910
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218232
AA Change: S61T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219338
AA Change: S61T
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219651
AA Change: S61T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219872
|
Meta Mutation Damage Score |
0.5075 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
A |
G |
7: 75,259,889 (GRCm39) |
T35A |
probably benign |
Het |
Arhgap32 |
T |
A |
9: 32,166,669 (GRCm39) |
S435R |
probably damaging |
Het |
Asic1 |
A |
T |
15: 99,569,906 (GRCm39) |
K76* |
probably null |
Het |
B9d1 |
A |
G |
11: 61,398,448 (GRCm39) |
|
probably benign |
Het |
Casd1 |
T |
C |
6: 4,619,876 (GRCm39) |
V207A |
possibly damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cnfn |
T |
C |
7: 25,067,805 (GRCm39) |
N45S |
probably benign |
Het |
Col14a1 |
G |
T |
15: 55,226,909 (GRCm39) |
D220Y |
unknown |
Het |
Csn1s1 |
T |
A |
5: 87,828,702 (GRCm39) |
Y274* |
probably null |
Het |
Cyp2c69 |
T |
C |
19: 39,869,600 (GRCm39) |
T140A |
probably benign |
Het |
Dlg2 |
A |
T |
7: 91,459,743 (GRCm39) |
|
probably benign |
Het |
Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
Ift172 |
C |
T |
5: 31,414,925 (GRCm39) |
D1366N |
possibly damaging |
Het |
Itga4 |
A |
G |
2: 79,109,472 (GRCm39) |
T224A |
probably benign |
Het |
Itprid1 |
A |
T |
6: 55,952,588 (GRCm39) |
M844L |
possibly damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt71 |
C |
T |
15: 101,651,345 (GRCm39) |
S46N |
probably damaging |
Het |
Lhx1 |
A |
G |
11: 84,412,726 (GRCm39) |
S65P |
probably benign |
Het |
Lingo4 |
A |
G |
3: 94,309,685 (GRCm39) |
S208G |
probably benign |
Het |
Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
Nfrkb |
A |
T |
9: 31,321,228 (GRCm39) |
|
probably benign |
Het |
Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
Nlrp14 |
A |
T |
7: 106,781,481 (GRCm39) |
Q226L |
probably benign |
Het |
Ocln |
T |
C |
13: 100,635,402 (GRCm39) |
R496G |
possibly damaging |
Het |
Or2b2b |
T |
C |
13: 21,859,153 (GRCm39) |
|
probably null |
Het |
Or7e173 |
T |
A |
9: 19,938,359 (GRCm39) |
I292F |
probably damaging |
Het |
Osgepl1 |
T |
C |
1: 53,359,406 (GRCm39) |
I305T |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,887,487 (GRCm39) |
N266S |
probably benign |
Het |
Per1 |
A |
G |
11: 69,000,127 (GRCm39) |
E1273G |
probably benign |
Het |
Plch1 |
A |
G |
3: 63,605,252 (GRCm39) |
Y1542H |
probably damaging |
Het |
Pold1 |
A |
G |
7: 44,190,994 (GRCm39) |
F252L |
probably damaging |
Het |
Ptk2b |
A |
T |
14: 66,407,700 (GRCm39) |
D607E |
probably damaging |
Het |
Sdf4 |
T |
A |
4: 156,086,916 (GRCm39) |
|
probably null |
Het |
Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,622,033 (GRCm39) |
Y531C |
probably damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
Uba2 |
A |
C |
7: 33,845,722 (GRCm39) |
V467G |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,747,525 (GRCm39) |
S263P |
possibly damaging |
Het |
Ugt2b35 |
A |
G |
5: 87,149,465 (GRCm39) |
T239A |
probably benign |
Het |
Wac |
T |
C |
18: 7,920,190 (GRCm39) |
V348A |
possibly damaging |
Het |
Wdr3 |
A |
T |
3: 100,059,281 (GRCm39) |
M346K |
probably benign |
Het |
Zfp607a |
A |
T |
7: 27,578,331 (GRCm39) |
H467L |
probably benign |
Het |
|
Other mutations in Tmem200a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01098:Tmem200a
|
APN |
10 |
25,870,041 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02323:Tmem200a
|
APN |
10 |
25,869,328 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02702:Tmem200a
|
APN |
10 |
25,869,501 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03221:Tmem200a
|
APN |
10 |
25,869,922 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0467:Tmem200a
|
UTSW |
10 |
25,870,002 (GRCm39) |
missense |
probably benign |
0.09 |
R1169:Tmem200a
|
UTSW |
10 |
25,870,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R1543:Tmem200a
|
UTSW |
10 |
25,954,518 (GRCm39) |
unclassified |
probably benign |
|
R1555:Tmem200a
|
UTSW |
10 |
25,869,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R1630:Tmem200a
|
UTSW |
10 |
25,868,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R1693:Tmem200a
|
UTSW |
10 |
25,869,877 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1786:Tmem200a
|
UTSW |
10 |
25,869,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Tmem200a
|
UTSW |
10 |
25,869,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Tmem200a
|
UTSW |
10 |
25,869,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R2260:Tmem200a
|
UTSW |
10 |
25,869,313 (GRCm39) |
missense |
probably benign |
|
R5062:Tmem200a
|
UTSW |
10 |
25,869,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R5178:Tmem200a
|
UTSW |
10 |
25,870,277 (GRCm39) |
missense |
probably benign |
0.02 |
R5195:Tmem200a
|
UTSW |
10 |
25,954,854 (GRCm39) |
unclassified |
probably benign |
|
R5208:Tmem200a
|
UTSW |
10 |
25,870,051 (GRCm39) |
missense |
probably benign |
0.00 |
R6045:Tmem200a
|
UTSW |
10 |
25,868,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R6319:Tmem200a
|
UTSW |
10 |
25,869,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R6552:Tmem200a
|
UTSW |
10 |
25,869,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R7797:Tmem200a
|
UTSW |
10 |
25,869,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7961:Tmem200a
|
UTSW |
10 |
25,869,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R7989:Tmem200a
|
UTSW |
10 |
25,869,955 (GRCm39) |
missense |
probably benign |
|
R8009:Tmem200a
|
UTSW |
10 |
25,869,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R8074:Tmem200a
|
UTSW |
10 |
25,868,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R9254:Tmem200a
|
UTSW |
10 |
25,869,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R9358:Tmem200a
|
UTSW |
10 |
25,869,677 (GRCm39) |
missense |
probably benign |
0.20 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGGGCCAAGCATCTTCATC -3'
(R):5'- CCTTTCTTTTCAGAGCACAAGAGG -3'
Sequencing Primer
(F):5'- CATCTTATCGGAATGTAGATGCTGC -3'
(R):5'- GGAAACTATGATAGCCACTGGTG -3'
|
Posted On |
2015-03-25 |