Incidental Mutation 'R1311:Tmem200c'
| ID |
157950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem200c
|
| Ensembl Gene |
ENSMUSG00000095407 |
| Gene Name |
transmembrane protein 200C |
| Synonyms |
Gm6338 |
| MMRRC Submission |
039377-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R1311 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
69144084-69150133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69147758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 114
(S114C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178545]
|
| AlphaFold |
J3QK46 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178545
AA Change: S114C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137246
Gene: ENSMUSG00000095407
AA Change: S114C
| 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 |
|
| Meta Mutation Damage Score |
0.0802 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 86.2%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
T |
C |
2: 58,170,261 (GRCm39) |
Q449R |
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,759,007 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,648,111 (GRCm39) |
N1939K |
probably damaging |
Het |
| Cd209c |
T |
A |
8: 3,995,908 (GRCm39) |
M1L |
probably benign |
Het |
| Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,699,789 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,817,286 (GRCm39) |
V1640A |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,781,088 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,932,706 (GRCm39) |
T1409I |
probably damaging |
Het |
| Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
| Gm5709 |
T |
C |
3: 59,526,100 (GRCm39) |
|
noncoding transcript |
Het |
| Htr2b |
C |
A |
1: 86,038,346 (GRCm39) |
A87S |
probably damaging |
Het |
| Kansl2 |
G |
T |
15: 98,426,797 (GRCm39) |
H275N |
possibly damaging |
Het |
| Megf6 |
G |
A |
4: 154,348,239 (GRCm39) |
|
probably null |
Het |
| Mtpn |
A |
G |
6: 35,489,185 (GRCm39) |
I113T |
possibly damaging |
Het |
| Myh6 |
G |
T |
14: 55,183,822 (GRCm39) |
A1704E |
probably damaging |
Het |
| Notum |
C |
T |
11: 120,546,575 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,167,103 (GRCm39) |
|
probably null |
Het |
| Or14c41 |
T |
A |
7: 86,235,161 (GRCm39) |
V226D |
probably damaging |
Het |
| Ptpn5 |
A |
T |
7: 46,728,980 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,990,854 (GRCm39) |
F985L |
probably benign |
Het |
| Slc7a7 |
A |
T |
14: 54,610,487 (GRCm39) |
Y386* |
probably null |
Het |
| Snph |
G |
T |
2: 151,439,122 (GRCm39) |
P36Q |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,915,868 (GRCm39) |
C838R |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Supt7l |
T |
C |
5: 31,677,605 (GRCm39) |
Y187C |
probably damaging |
Het |
| Sycp2l |
A |
T |
13: 41,288,661 (GRCm39) |
K241* |
probably null |
Het |
| Tenm2 |
G |
T |
11: 35,959,421 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,377,290 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
T |
C |
11: 82,335,122 (GRCm39) |
Y643H |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,342 (GRCm39) |
I4850T |
possibly damaging |
Het |
| Zmym6 |
G |
T |
4: 127,017,151 (GRCm39) |
L977F |
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 |
|
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 |
|
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'- GGCAAACTGAAGCTGTGCTCCATC -3'
(R):5'- GCCCGAAGACCTTTAGCTTGTCTG -3'
Sequencing Primer
(F):5'- GGGGCTCATTGCCCTTTG -3'
(R):5'- CTTGTCTGAGTGCAAGTAGCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation