Incidental Mutation 'R5751:Tmem200c'
ID |
446022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem200c
|
Ensembl Gene |
ENSMUSG00000095407 |
Gene Name |
transmembrane protein 200C |
Synonyms |
Gm6338 |
MMRRC Submission |
043201-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R5751 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
69144084-69150133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69147547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 43
(K43N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178545]
|
AlphaFold |
J3QK46 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178545
AA Change: K43N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137246 Gene: ENSMUSG00000095407 AA Change: K43N
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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,368,893 (GRCm39) |
T1704A |
possibly damaging |
Het |
Adam6a |
T |
A |
12: 113,508,447 (GRCm39) |
D273E |
possibly damaging |
Het |
Adgrv1 |
T |
A |
13: 81,670,355 (GRCm39) |
L1610F |
probably damaging |
Het |
Ago2 |
C |
T |
15: 73,000,172 (GRCm39) |
|
probably null |
Het |
Apob |
T |
A |
12: 8,062,619 (GRCm39) |
Y87* |
probably null |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Atp7b |
A |
G |
8: 22,508,144 (GRCm39) |
V599A |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,032,863 (GRCm39) |
I391F |
probably benign |
Het |
Emc2 |
A |
G |
15: 43,360,453 (GRCm39) |
|
probably null |
Het |
Gbp9 |
G |
T |
5: 105,229,124 (GRCm39) |
Q508K |
probably benign |
Het |
Grpel1 |
C |
T |
5: 36,626,811 (GRCm39) |
T31M |
probably benign |
Het |
Gtf3c4 |
C |
T |
2: 28,717,511 (GRCm39) |
A790T |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,449,305 (GRCm39) |
C115R |
probably damaging |
Het |
Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
Ldc1 |
A |
C |
4: 130,114,234 (GRCm39) |
V61G |
probably benign |
Het |
Lhx3 |
A |
G |
2: 26,091,173 (GRCm39) |
S379P |
probably benign |
Het |
Mocs1 |
A |
G |
17: 49,756,766 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
C |
A |
14: 103,385,986 (GRCm39) |
V3457F |
probably damaging |
Het |
Or14j7 |
A |
T |
17: 38,234,861 (GRCm39) |
I135L |
probably benign |
Het |
Or4a2 |
A |
T |
2: 89,248,031 (GRCm39) |
I242N |
probably damaging |
Het |
Or5an6 |
G |
A |
19: 12,371,780 (GRCm39) |
R51K |
probably benign |
Het |
Orc5 |
C |
T |
5: 22,704,969 (GRCm39) |
|
probably null |
Het |
Phf20 |
T |
C |
2: 156,109,261 (GRCm39) |
S203P |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,817,204 (GRCm39) |
S1815G |
possibly damaging |
Het |
Pnpla7 |
T |
C |
2: 24,871,790 (GRCm39) |
V11A |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,300,086 (GRCm39) |
|
probably null |
Het |
Ranbp3l |
A |
G |
15: 9,063,169 (GRCm39) |
D326G |
probably damaging |
Het |
Rsph4a |
C |
T |
10: 33,781,789 (GRCm39) |
A213V |
probably damaging |
Het |
Sema3b |
A |
G |
9: 107,476,913 (GRCm39) |
S570P |
probably benign |
Het |
Spata31d1b |
T |
A |
13: 59,866,787 (GRCm39) |
C1312S |
probably benign |
Het |
Sphkap |
G |
T |
1: 83,253,618 (GRCm39) |
T1377K |
probably benign |
Het |
Stk32a |
A |
T |
18: 43,438,085 (GRCm39) |
R195W |
possibly damaging |
Het |
Tacr2 |
T |
C |
10: 62,088,769 (GRCm39) |
I58T |
probably damaging |
Het |
Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
Uckl1 |
A |
G |
2: 181,216,245 (GRCm39) |
S167P |
possibly damaging |
Het |
Vmn2r90 |
A |
G |
17: 17,954,128 (GRCm39) |
Y764C |
probably damaging |
Het |
Zan |
C |
T |
5: 137,408,423 (GRCm39) |
|
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 |
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 |
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'- TCCTCTACTTTGCGCAGGAG -3'
(R):5'- TGTTGCTGATGGCCCCAATG -3'
Sequencing Primer
(F):5'- TGACCAAGCAGCTAGTGGGC -3'
(R):5'- CCAATGCGATGGCTACTGC -3'
|
Posted On |
2016-11-21 |