Incidental Mutation 'R2397:Tmem200c'
ID |
248576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem200c
|
Ensembl Gene |
ENSMUSG00000095407 |
Gene Name |
transmembrane protein 200C |
Synonyms |
Gm6338 |
MMRRC Submission |
040364-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R2397 (G1)
|
Quality Score |
175 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
69144084-69150133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 69147942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 175
(V175A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178545]
|
AlphaFold |
J3QK46 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178545
AA Change: V175A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137246 Gene: ENSMUSG00000095407 AA Change: V175A
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 |
0.5528 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
Adamtsl1 |
C |
T |
4: 86,117,594 (GRCm39) |
R186W |
probably damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,622,383 (GRCm39) |
V948I |
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,730,466 (GRCm39) |
T787A |
probably benign |
Het |
Capn11 |
T |
A |
17: 45,964,147 (GRCm39) |
N139I |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,146,244 (GRCm39) |
D60G |
possibly damaging |
Het |
Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,201,835 (GRCm39) |
I41T |
unknown |
Het |
Cyp2d26 |
C |
T |
15: 82,678,236 (GRCm39) |
G47R |
probably damaging |
Het |
Dhx36 |
A |
T |
3: 62,405,518 (GRCm39) |
M205K |
probably benign |
Het |
Dyrk2 |
T |
A |
10: 118,697,273 (GRCm39) |
|
probably benign |
Het |
Echs1 |
T |
C |
7: 139,692,390 (GRCm39) |
H119R |
possibly damaging |
Het |
Ehf |
T |
A |
2: 103,107,164 (GRCm39) |
D120V |
probably damaging |
Het |
Esrra |
A |
G |
19: 6,897,544 (GRCm39) |
L71P |
probably damaging |
Het |
Fam228a |
A |
T |
12: 4,768,718 (GRCm39) |
S200R |
probably benign |
Het |
Fibcd1 |
A |
T |
2: 31,724,435 (GRCm39) |
M191K |
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,393,556 (GRCm39) |
L521P |
probably damaging |
Het |
Fscn2 |
T |
C |
11: 120,252,995 (GRCm39) |
L154P |
probably damaging |
Het |
Gm7964 |
T |
G |
7: 83,406,321 (GRCm39) |
|
noncoding transcript |
Het |
Golga3 |
T |
C |
5: 110,353,743 (GRCm39) |
|
probably benign |
Het |
Gria4 |
A |
G |
9: 4,537,717 (GRCm39) |
L197P |
probably damaging |
Het |
Heg1 |
T |
A |
16: 33,562,849 (GRCm39) |
M913K |
probably damaging |
Het |
Ifi205 |
T |
C |
1: 173,845,141 (GRCm39) |
T214A |
possibly damaging |
Het |
Ift140 |
T |
G |
17: 25,239,710 (GRCm39) |
D122E |
probably damaging |
Het |
Jakmip1 |
T |
A |
5: 37,258,087 (GRCm39) |
D244E |
probably damaging |
Het |
Krt84 |
A |
G |
15: 101,438,689 (GRCm39) |
V266A |
probably benign |
Het |
Mc2r |
T |
A |
18: 68,541,224 (GRCm39) |
D23V |
probably benign |
Het |
Ncr1 |
T |
A |
7: 4,341,260 (GRCm39) |
F47I |
probably benign |
Het |
Nr1h3 |
G |
A |
2: 91,022,202 (GRCm39) |
T142I |
possibly damaging |
Het |
Obox2 |
C |
T |
7: 15,130,971 (GRCm39) |
P68S |
probably benign |
Het |
Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
Parn |
A |
G |
16: 13,384,518 (GRCm39) |
V515A |
probably benign |
Het |
Ptdss2 |
T |
A |
7: 140,727,005 (GRCm39) |
F105I |
probably benign |
Het |
Ruvbl1 |
A |
C |
6: 88,442,534 (GRCm39) |
T9P |
possibly damaging |
Het |
Slc15a3 |
A |
G |
19: 10,820,407 (GRCm39) |
E8G |
probably benign |
Het |
Slf1 |
G |
T |
13: 77,251,702 (GRCm39) |
Y303* |
probably null |
Het |
Socs5 |
T |
C |
17: 87,442,377 (GRCm39) |
F439S |
probably damaging |
Het |
Tcp10c |
C |
A |
17: 13,590,473 (GRCm39) |
A357E |
probably damaging |
Het |
Vmn2r124 |
T |
A |
17: 18,269,859 (GRCm39) |
H38Q |
possibly damaging |
Het |
Vmn2r54 |
T |
G |
7: 12,349,578 (GRCm39) |
Q668P |
probably damaging |
Het |
Xrcc2 |
T |
C |
5: 25,910,708 (GRCm39) |
S3G |
probably null |
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 |
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'- TCAGCAACAGCAGCAATGG -3'
(R):5'- TCGAGATTGCACGTAGCTGAG -3'
Sequencing Primer
(F):5'- AGCCAAGAGCCACTCTGG -3'
(R):5'- CTGAGAAAGCCATTGAGCGG -3'
|
Posted On |
2014-11-11 |