Incidental Mutation 'R5865:Ccdc187'
| ID |
454106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc187
|
| Ensembl Gene |
ENSMUSG00000048038 |
| Gene Name |
coiled-coil domain containing 187 |
| Synonyms |
4932418E24Rik |
| MMRRC Submission |
044074-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26243469-26294557 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26293368 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 207
(T207A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057224]
[ENSMUST00000217256]
[ENSMUST00000227200]
|
| AlphaFold |
Q8C5V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057224
AA Change: T207A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: T207A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
557 |
N/A |
INTRINSIC |
|
coiled coil region
|
605 |
632 |
N/A |
INTRINSIC |
|
coiled coil region
|
717 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217256
AA Change: T207A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227200
AA Change: T207A
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.7%
- 20x: 88.7%
|
| Validation Efficiency |
91% (59/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
G |
A |
3: 32,712,128 (GRCm38) |
V48M |
possibly damaging |
Het |
| Adamts2 |
T |
G |
11: 50,803,954 (GRCm38) |
Y1189* |
probably null |
Het |
| Bpifb9a |
T |
C |
2: 154,266,836 (GRCm38) |
I419T |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,083,151 (GRCm38) |
I167N |
possibly damaging |
Het |
| Cd300lf |
G |
A |
11: 115,126,300 (GRCm38) |
L66F |
probably damaging |
Het |
| Cenpk |
A |
G |
13: 104,236,194 (GRCm38) |
*92W |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,604,478 (GRCm38) |
S2950R |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,975,108 (GRCm38) |
T2154A |
probably benign |
Het |
| Ebna1bp2 |
A |
T |
4: 118,621,135 (GRCm38) |
|
probably benign |
Het |
| Elac2 |
G |
T |
11: 64,997,957 (GRCm38) |
C532F |
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,225,337 (GRCm38) |
D377E |
probably benign |
Het |
| Haus6 |
A |
G |
4: 86,586,357 (GRCm38) |
C466R |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,575,176 (GRCm38) |
S297P |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,990,922 (GRCm38) |
R766W |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,771,393 (GRCm38) |
Y816C |
possibly damaging |
Het |
| Kcnc4 |
A |
T |
3: 107,458,199 (GRCm38) |
|
probably null |
Het |
| Kif21b |
C |
T |
1: 136,151,137 (GRCm38) |
R408* |
probably null |
Het |
| Lrrc31 |
A |
G |
3: 30,679,140 (GRCm38) |
V475A |
probably benign |
Het |
| Map2k1 |
C |
T |
9: 64,191,266 (GRCm38) |
|
probably null |
Het |
| Mc3r |
T |
A |
2: 172,249,672 (GRCm38) |
N271K |
possibly damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,304,217 (GRCm38) |
S326P |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,650,504 (GRCm38) |
I358F |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,297,488 (GRCm38) |
D1541G |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,910,934 (GRCm38) |
S1793G |
probably damaging |
Het |
| Nfkb1 |
T |
A |
3: 135,603,780 (GRCm38) |
T518S |
probably damaging |
Het |
| Nphs1 |
T |
A |
7: 30,474,385 (GRCm38) |
I989N |
probably damaging |
Het |
| Olfr1024 |
T |
C |
2: 85,904,521 (GRCm38) |
T178A |
probably benign |
Het |
| Pcdha5 |
T |
C |
18: 36,961,421 (GRCm38) |
F328L |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,714,478 (GRCm38) |
S4322T |
probably benign |
Het |
| Peg10 |
A |
G |
6: 4,754,375 (GRCm38) |
N52S |
probably damaging |
Het |
| Phf10 |
A |
C |
17: 14,955,010 (GRCm38) |
|
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,791,993 (GRCm38) |
I152T |
possibly damaging |
Het |
| Ptpn18 |
T |
A |
1: 34,471,563 (GRCm38) |
|
probably benign |
Het |
| Rufy4 |
A |
T |
1: 74,146,755 (GRCm38) |
Y527F |
probably damaging |
Het |
| Snx32 |
T |
C |
19: 5,496,354 (GRCm38) |
M293V |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,983,034 (GRCm38) |
L1827M |
possibly damaging |
Het |
| Sstr5 |
T |
A |
17: 25,491,244 (GRCm38) |
D337V |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,596,697 (GRCm38) |
F194L |
probably benign |
Het |
| Tcerg1 |
T |
A |
18: 42,536,348 (GRCm38) |
W459R |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,487,099 (GRCm38) |
I525L |
probably benign |
Het |
| Tmem55b |
A |
G |
14: 50,928,875 (GRCm38) |
|
probably benign |
Het |
| Trim43b |
C |
T |
9: 89,085,606 (GRCm38) |
V325I |
probably benign |
Het |
| Txndc11 |
A |
T |
16: 11,122,688 (GRCm38) |
I180K |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,219,225 (GRCm38) |
L199P |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,584,295 (GRCm38) |
M121T |
probably benign |
Het |
| Zfhx4 |
G |
C |
3: 5,402,659 (GRCm38) |
A2626P |
probably damaging |
Het |
| Zfp445 |
C |
T |
9: 122,853,487 (GRCm38) |
S463N |
probably benign |
Het |
| Zwilch |
T |
A |
9: 64,172,908 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Ccdc187 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01868:Ccdc187
|
APN |
2 |
26,280,948 (GRCm38) |
missense |
probably benign |
|
|
IGL02989:Ccdc187
|
APN |
2 |
26,276,431 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03017:Ccdc187
|
APN |
2 |
26,280,966 (GRCm38) |
missense |
probably benign |
|
|
IGL03059:Ccdc187
|
APN |
2 |
26,294,241 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL03117:Ccdc187
|
APN |
2 |
26,287,968 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0026:Ccdc187
|
UTSW |
2 |
26,281,353 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0144:Ccdc187
|
UTSW |
2 |
26,276,203 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1078:Ccdc187
|
UTSW |
2 |
26,294,377 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1226:Ccdc187
|
UTSW |
2 |
26,276,121 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1624:Ccdc187
|
UTSW |
2 |
26,281,075 (GRCm38) |
missense |
probably benign |
|
|
R1733:Ccdc187
|
UTSW |
2 |
26,293,658 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1851:Ccdc187
|
UTSW |
2 |
26,276,068 (GRCm38) |
missense |
probably benign |
0.17 |
|
R2304:Ccdc187
|
UTSW |
2 |
26,281,017 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4278:Ccdc187
|
UTSW |
2 |
26,282,227 (GRCm38) |
intron |
probably benign |
|
|
R4344:Ccdc187
|
UTSW |
2 |
26,280,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5151:Ccdc187
|
UTSW |
2 |
26,293,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5416:Ccdc187
|
UTSW |
2 |
26,276,092 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5537:Ccdc187
|
UTSW |
2 |
26,276,225 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5761:Ccdc187
|
UTSW |
2 |
26,276,092 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5762:Ccdc187
|
UTSW |
2 |
26,276,092 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5925:Ccdc187
|
UTSW |
2 |
26,293,581 (GRCm38) |
missense |
probably benign |
|
|
R6261:Ccdc187
|
UTSW |
2 |
26,276,203 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6803:Ccdc187
|
UTSW |
2 |
26,289,779 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6888:Ccdc187
|
UTSW |
2 |
26,289,734 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6958:Ccdc187
|
UTSW |
2 |
26,289,719 (GRCm38) |
missense |
probably benign |
|
|
R7006:Ccdc187
|
UTSW |
2 |
26,281,090 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7358:Ccdc187
|
UTSW |
2 |
26,255,995 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7818:Ccdc187
|
UTSW |
2 |
26,276,174 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R8048:Ccdc187
|
UTSW |
2 |
26,293,514 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8327:Ccdc187
|
UTSW |
2 |
26,280,618 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8353:Ccdc187
|
UTSW |
2 |
26,276,446 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8425:Ccdc187
|
UTSW |
2 |
26,281,536 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8453:Ccdc187
|
UTSW |
2 |
26,276,446 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8461:Ccdc187
|
UTSW |
2 |
26,293,802 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8534:Ccdc187
|
UTSW |
2 |
26,275,565 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R8694:Ccdc187
|
UTSW |
2 |
26,275,493 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8745:Ccdc187
|
UTSW |
2 |
26,280,514 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8958:Ccdc187
|
UTSW |
2 |
26,275,565 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8972:Ccdc187
|
UTSW |
2 |
26,281,067 (GRCm38) |
missense |
probably benign |
|
|
R9214:Ccdc187
|
UTSW |
2 |
26,293,397 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9454:Ccdc187
|
UTSW |
2 |
26,276,102 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9542:Ccdc187
|
UTSW |
2 |
26,255,918 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9562:Ccdc187
|
UTSW |
2 |
26,293,686 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9565:Ccdc187
|
UTSW |
2 |
26,293,686 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9601:Ccdc187
|
UTSW |
2 |
26,253,433 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9702:Ccdc187
|
UTSW |
2 |
26,282,210 (GRCm38) |
missense |
unknown |
|
|
R9727:Ccdc187
|
UTSW |
2 |
26,281,192 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9790:Ccdc187
|
UTSW |
2 |
26,281,215 (GRCm38) |
missense |
probably benign |
|
|
R9791:Ccdc187
|
UTSW |
2 |
26,281,215 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Ccdc187
|
UTSW |
2 |
26,281,507 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTCACCCTAAATTCAGCTCAGAAG -3'
(R):5'- TTTCTCATGGGCCCTGGAAG -3'
Sequencing Primer
(F):5'- GCTCAGAAGCCCCACCC -3'
(R):5'- GGAAAGGCCACCCCTGATACTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation