Incidental Mutation 'R5827:Tmem200c'
ID |
450237 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem200c
|
Ensembl Gene |
ENSMUSG00000095407 |
Gene Name |
transmembrane protein 200C |
Synonyms |
Gm6338 |
MMRRC Submission |
043218-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R5827 (G1)
|
Quality Score |
194 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
69144084-69150133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69149004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 529
(E529G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178545]
|
AlphaFold |
J3QK46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000178545
AA Change: E529G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000137246 Gene: ENSMUSG00000095407 AA Change: E529G
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Agl |
T |
C |
3: 116,574,703 (GRCm39) |
I34V |
probably damaging |
Het |
Cavin4 |
A |
T |
4: 48,672,074 (GRCm39) |
D173V |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,716,078 (GRCm39) |
D884G |
probably damaging |
Het |
Col6a5 |
G |
A |
9: 105,805,319 (GRCm39) |
R1196* |
probably null |
Het |
Disc1 |
T |
C |
8: 125,862,104 (GRCm39) |
L492P |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
Fbxw4 |
T |
C |
19: 45,568,096 (GRCm39) |
T26A |
probably benign |
Het |
H1f6 |
A |
G |
13: 23,880,185 (GRCm39) |
K113E |
possibly damaging |
Het |
Klhl24 |
T |
A |
16: 19,938,871 (GRCm39) |
Y475* |
probably null |
Het |
Map4k3 |
C |
T |
17: 80,900,712 (GRCm39) |
|
probably null |
Het |
Mfsd6 |
T |
C |
1: 52,701,551 (GRCm39) |
E633G |
probably damaging |
Het |
Mycn |
G |
A |
12: 12,989,794 (GRCm39) |
R201* |
probably null |
Het |
Nek11 |
T |
C |
9: 105,191,944 (GRCm39) |
I155M |
probably damaging |
Het |
Notch2 |
G |
A |
3: 97,980,178 (GRCm39) |
V231I |
possibly damaging |
Het |
Npnt |
A |
C |
3: 132,612,536 (GRCm39) |
V187G |
possibly damaging |
Het |
Nr1d2 |
C |
A |
14: 18,222,248 (GRCm38) |
V8L |
possibly damaging |
Het |
Nup188 |
C |
T |
2: 30,229,859 (GRCm39) |
T1359I |
probably damaging |
Het |
Or2m12 |
T |
A |
16: 19,105,182 (GRCm39) |
I104L |
probably benign |
Het |
Or4k35 |
A |
T |
2: 111,100,266 (GRCm39) |
W149R |
probably damaging |
Het |
Or5m11b |
C |
A |
2: 85,805,650 (GRCm39) |
P21Q |
probably benign |
Het |
Or8g36 |
T |
A |
9: 39,422,354 (GRCm39) |
I221F |
probably damaging |
Het |
P2rx2 |
C |
T |
5: 110,488,195 (GRCm39) |
R453Q |
probably benign |
Het |
Pcdhb7 |
A |
G |
18: 37,475,077 (GRCm39) |
E71G |
probably benign |
Het |
Pcdhb9 |
A |
T |
18: 37,535,011 (GRCm39) |
D335V |
possibly damaging |
Het |
Pcsk9 |
C |
T |
4: 106,306,144 (GRCm39) |
G368R |
probably damaging |
Het |
Ptgr2 |
G |
A |
12: 84,342,110 (GRCm39) |
|
probably null |
Het |
Rhebl1 |
T |
A |
15: 98,776,151 (GRCm39) |
I168F |
probably damaging |
Het |
Serpina3b |
A |
G |
12: 104,097,036 (GRCm39) |
T106A |
probably benign |
Het |
Sh3pxd2b |
A |
G |
11: 32,372,422 (GRCm39) |
I530V |
probably benign |
Het |
Skint10 |
T |
C |
4: 112,603,972 (GRCm39) |
T72A |
probably benign |
Het |
Slx4 |
G |
T |
16: 3,819,148 (GRCm39) |
F8L |
possibly damaging |
Het |
Tdp2 |
T |
C |
13: 25,015,836 (GRCm39) |
L41P |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,498,764 (GRCm39) |
I847V |
probably benign |
Het |
Tnpo1 |
T |
C |
13: 98,993,416 (GRCm39) |
D590G |
probably damaging |
Het |
Ube3d |
T |
C |
9: 86,254,489 (GRCm39) |
T331A |
possibly damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,128,787 (GRCm39) |
S143R |
probably damaging |
Het |
Zfp58 |
A |
T |
13: 67,639,412 (GRCm39) |
C360S |
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 |
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'- TGTACAGCATCTACCGCGAG -3'
(R):5'- CAGTACTGGGATCTGTAACATCC -3'
Sequencing Primer
(F):5'- AGAACTGGACCTGAGCCTGAC -3'
(R):5'- TGGGATCTGTAACATCCTCACAG -3'
|
Posted On |
2016-12-20 |