Incidental Mutation 'R1555:Tmem200a'
ID |
170230 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem200a
|
Ensembl Gene |
ENSMUSG00000049420 |
Gene Name |
transmembrane protein 200A |
Synonyms |
C030003D03Rik |
MMRRC Submission |
039594-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R1555 (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 25869782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 162
(D162E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066049]
[ENSMUST00000218232]
[ENSMUST00000219338]
[ENSMUST00000219651]
[ENSMUST00000219872]
|
AlphaFold |
Q8C817 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066049
AA Change: D162E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064080 Gene: ENSMUSG00000049420 AA Change: D162E
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: D162E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219338
AA Change: D162E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219651
AA Change: D162E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219872
|
Meta Mutation Damage Score |
0.1584 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,865,727 (GRCm39) |
|
probably null |
Het |
Adamts1 |
T |
A |
16: 85,594,776 (GRCm39) |
T358S |
probably benign |
Het |
Ate1 |
A |
T |
7: 130,110,821 (GRCm39) |
F169I |
probably benign |
Het |
Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
Clcnkb |
T |
C |
4: 141,139,050 (GRCm39) |
|
probably null |
Het |
Col6a4 |
C |
T |
9: 105,878,085 (GRCm39) |
R1964Q |
possibly damaging |
Het |
Dcakd |
C |
T |
11: 102,891,039 (GRCm39) |
V17I |
probably damaging |
Het |
Dcdc5 |
T |
G |
2: 106,214,480 (GRCm39) |
|
noncoding transcript |
Het |
Erc2 |
T |
A |
14: 27,733,622 (GRCm39) |
D557E |
probably damaging |
Het |
Grid2 |
A |
T |
6: 64,406,668 (GRCm39) |
D676V |
possibly damaging |
Het |
Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
Igkv10-96 |
C |
T |
6: 68,609,365 (GRCm39) |
|
probably benign |
Het |
Mier3 |
T |
A |
13: 111,844,893 (GRCm39) |
N248K |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,702,853 (GRCm39) |
I15F |
probably damaging |
Het |
Neurl3 |
A |
G |
1: 36,305,613 (GRCm39) |
V198A |
probably benign |
Het |
Notch2 |
C |
A |
3: 98,038,656 (GRCm39) |
N1266K |
possibly damaging |
Het |
Nup107 |
A |
G |
10: 117,587,395 (GRCm39) |
|
probably benign |
Het |
Or52e8b |
T |
C |
7: 104,673,729 (GRCm39) |
I153V |
probably benign |
Het |
Or6d14 |
A |
T |
6: 116,533,787 (GRCm39) |
I134F |
probably damaging |
Het |
Phf3 |
G |
T |
1: 30,844,958 (GRCm39) |
H1334N |
possibly damaging |
Het |
Phyhd1 |
T |
A |
2: 30,164,718 (GRCm39) |
I100N |
probably damaging |
Het |
Rad21l |
T |
A |
2: 151,500,348 (GRCm39) |
T224S |
probably benign |
Het |
Rxra |
C |
T |
2: 27,638,690 (GRCm39) |
A231V |
probably benign |
Het |
Sac3d1 |
T |
C |
19: 6,168,435 (GRCm39) |
D61G |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,189,279 (GRCm39) |
Y481H |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,927,858 (GRCm39) |
E642G |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,006,315 (GRCm39) |
Y159C |
probably damaging |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Tedc1 |
G |
T |
12: 113,120,117 (GRCm39) |
|
probably benign |
Het |
Tmprss11e |
T |
A |
5: 86,863,447 (GRCm39) |
Q206L |
probably damaging |
Het |
Tpra1 |
A |
G |
6: 88,887,185 (GRCm39) |
N175S |
probably damaging |
Het |
Ttll10 |
T |
C |
4: 156,119,596 (GRCm39) |
E601G |
probably benign |
Het |
Ttll6 |
G |
T |
11: 96,036,408 (GRCm39) |
D346Y |
probably damaging |
Het |
U2surp |
A |
G |
9: 95,348,630 (GRCm39) |
V874A |
probably damaging |
Het |
Vwa5b1 |
T |
C |
4: 138,332,788 (GRCm39) |
K258R |
probably benign |
Het |
Xkr6 |
A |
G |
14: 64,056,374 (GRCm39) |
Y95C |
unknown |
Het |
Zfp180 |
T |
C |
7: 23,800,999 (GRCm39) |
|
probably benign |
Het |
Zfp90 |
A |
G |
8: 107,150,727 (GRCm39) |
T147A |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCACTGTCAGATAGCAACGGG -3'
(R):5'- TGCGCTTCTTTGAGCAGCATCTAC -3'
Sequencing Primer
(F):5'- GTCCACCCGAAAGCTGTTC -3'
(R):5'- TGAGCAGCATCTACATTCCG -3'
|
Posted On |
2014-04-13 |