Incidental Mutation 'IGL02702:Tmem200a'
ID |
304175 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem200a
|
Ensembl Gene |
ENSMUSG00000049420 |
Gene Name |
transmembrane protein 200A |
Synonyms |
C030003D03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL02702
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
25867080-25955713 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 25869501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 256
(G256D)
|
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: G256D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064080 Gene: ENSMUSG00000049420 AA Change: G256D
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: G256D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219338
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219651
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219872
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
C |
T |
6: 88,815,120 (GRCm39) |
V337I |
probably benign |
Het |
Adam11 |
G |
A |
11: 102,667,864 (GRCm39) |
V750I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,576,831 (GRCm39) |
V129A |
probably benign |
Het |
Cacna1d |
T |
A |
14: 29,845,490 (GRCm39) |
K560* |
probably null |
Het |
Cntn1 |
A |
G |
15: 92,189,482 (GRCm39) |
|
probably benign |
Het |
Cpne2 |
T |
C |
8: 95,296,651 (GRCm39) |
V530A |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,138,575 (GRCm39) |
L507P |
probably damaging |
Het |
Fndc4 |
T |
C |
5: 31,451,079 (GRCm39) |
K204R |
probably damaging |
Het |
Gnrhr |
G |
T |
5: 86,330,128 (GRCm39) |
N297K |
possibly damaging |
Het |
Grin2b |
A |
G |
6: 135,716,130 (GRCm39) |
F729S |
probably damaging |
Het |
Hdac3 |
C |
A |
18: 38,074,147 (GRCm39) |
R359L |
probably benign |
Het |
Met |
T |
C |
6: 17,534,142 (GRCm39) |
S662P |
possibly damaging |
Het |
Mphosph9 |
T |
A |
5: 124,398,052 (GRCm39) |
E1081D |
probably damaging |
Het |
Mycbp2 |
T |
G |
14: 103,457,560 (GRCm39) |
T1546P |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,264,381 (GRCm39) |
M767K |
possibly damaging |
Het |
Olfm5 |
A |
G |
7: 103,803,564 (GRCm39) |
Y300H |
probably damaging |
Het |
Or8b47 |
T |
A |
9: 38,435,856 (GRCm39) |
V276D |
probably damaging |
Het |
Pcf11 |
A |
T |
7: 92,310,826 (GRCm39) |
N178K |
possibly damaging |
Het |
Polr3a |
T |
C |
14: 24,520,945 (GRCm39) |
I571M |
probably benign |
Het |
Ppef2 |
T |
A |
5: 92,379,678 (GRCm39) |
R557W |
probably benign |
Het |
Prelid3a |
T |
A |
18: 67,606,864 (GRCm39) |
D85E |
probably damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,310,247 (GRCm39) |
E215G |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Recql4 |
C |
T |
15: 76,591,485 (GRCm39) |
G501R |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,283,740 (GRCm39) |
|
probably benign |
Het |
Shisa6 |
A |
C |
11: 66,110,788 (GRCm39) |
L318V |
probably damaging |
Het |
Slu7 |
T |
C |
11: 43,329,719 (GRCm39) |
|
probably benign |
Het |
Spink12 |
T |
C |
18: 44,237,836 (GRCm39) |
V38A |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,144,698 (GRCm39) |
D1549G |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,715,531 (GRCm39) |
V88A |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,714,835 (GRCm39) |
|
probably benign |
Het |
Ugt2b34 |
T |
C |
5: 87,040,750 (GRCm39) |
I391V |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,809,415 (GRCm39) |
L1215I |
probably benign |
Het |
Zfp410 |
C |
A |
12: 84,372,550 (GRCm39) |
N125K |
probably damaging |
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 |
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 |
|
R3793:Tmem200a
|
UTSW |
10 |
25,870,087 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |