Incidental Mutation 'R9702:Ccdc187'
| ID |
729607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc187
|
| Ensembl Gene |
ENSMUSG00000048038 |
| Gene Name |
coiled-coil domain containing 187 |
| Synonyms |
4932418E24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R9702 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26161659-26184569 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26172222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 287
(V287M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057224]
[ENSMUST00000217256]
[ENSMUST00000227200]
|
| AlphaFold |
Q8C5V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057224
|
| SMART Domains |
Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
| 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 |
probably benign
Transcript: ENSMUST00000217256
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227200
AA Change: V287M
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,107,378 (GRCm39) |
Y746H |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,684,483 (GRCm39) |
I1073F |
possibly damaging |
Het |
| Ankrd6 |
C |
T |
4: 32,810,202 (GRCm39) |
R493H |
possibly damaging |
Het |
| Apob |
G |
T |
12: 8,057,559 (GRCm39) |
A2014S |
probably damaging |
Het |
| Bdnf |
A |
T |
2: 109,554,117 (GRCm39) |
M164L |
possibly damaging |
Het |
| Cd164 |
G |
A |
10: 41,404,818 (GRCm39) |
R192Q |
probably damaging |
Het |
| Cd84 |
T |
C |
1: 171,700,498 (GRCm39) |
V205A |
probably benign |
Het |
| Cfap161 |
T |
A |
7: 83,442,652 (GRCm39) |
M54L |
probably benign |
Het |
| Crim1 |
T |
A |
17: 78,681,516 (GRCm39) |
V990E |
probably damaging |
Het |
| Dsc1 |
A |
G |
18: 20,227,685 (GRCm39) |
F518L |
probably benign |
Het |
| Esyt1 |
G |
A |
10: 128,356,607 (GRCm39) |
S346L |
probably damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,166,382 (GRCm39) |
C368F |
probably benign |
Het |
| Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
| Gfra4 |
T |
A |
2: 130,884,539 (GRCm39) |
S22C |
probably benign |
Het |
| Gm11992 |
T |
G |
11: 9,006,568 (GRCm39) |
V166G |
probably benign |
Het |
| Gp1bb |
A |
T |
16: 18,439,884 (GRCm39) |
L70Q |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,275,415 (GRCm39) |
T707A |
probably benign |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Kynu |
T |
A |
2: 43,479,469 (GRCm39) |
M121K |
probably damaging |
Het |
| Ldb3 |
A |
G |
14: 34,299,090 (GRCm39) |
V178A |
probably benign |
Het |
| Lrrc31 |
A |
G |
3: 30,735,226 (GRCm39) |
L350P |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mrps23 |
C |
T |
11: 88,100,998 (GRCm39) |
T121M |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,801 (GRCm39) |
V234E |
probably benign |
Het |
| Or51f1e |
T |
C |
7: 102,747,343 (GRCm39) |
Y132H |
probably damaging |
Het |
| Pign |
A |
T |
1: 105,485,212 (GRCm39) |
D782E |
probably damaging |
Het |
| Rab11b |
C |
A |
17: 33,968,026 (GRCm39) |
R82L |
possibly damaging |
Het |
| Sema3c |
T |
C |
5: 17,858,828 (GRCm39) |
S76P |
probably damaging |
Het |
| Slc28a2b |
T |
A |
2: 122,354,012 (GRCm39) |
I546N |
probably damaging |
Het |
| Sobp |
T |
C |
10: 42,897,944 (GRCm39) |
N547S |
probably benign |
Het |
| Tigd3 |
G |
A |
19: 5,942,836 (GRCm39) |
T98M |
probably damaging |
Het |
| Tox |
T |
G |
4: 6,697,418 (GRCm39) |
M462L |
probably benign |
Het |
| Vmn1r158 |
T |
A |
7: 22,490,065 (GRCm39) |
Q48L |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,462,883 (GRCm39) |
T1383A |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp108 |
C |
T |
7: 23,960,195 (GRCm39) |
T262I |
probably benign |
Het |
|
| Other mutations in Ccdc187 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01868:Ccdc187
|
APN |
2 |
26,170,960 (GRCm39) |
missense |
probably benign |
|
|
IGL02989:Ccdc187
|
APN |
2 |
26,166,443 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03017:Ccdc187
|
APN |
2 |
26,170,978 (GRCm39) |
missense |
probably benign |
|
|
IGL03059:Ccdc187
|
APN |
2 |
26,184,253 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03117:Ccdc187
|
APN |
2 |
26,177,980 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0026:Ccdc187
|
UTSW |
2 |
26,171,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0144:Ccdc187
|
UTSW |
2 |
26,166,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1078:Ccdc187
|
UTSW |
2 |
26,184,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1226:Ccdc187
|
UTSW |
2 |
26,166,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1624:Ccdc187
|
UTSW |
2 |
26,171,087 (GRCm39) |
missense |
probably benign |
|
|
R1733:Ccdc187
|
UTSW |
2 |
26,183,670 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1851:Ccdc187
|
UTSW |
2 |
26,166,080 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2304:Ccdc187
|
UTSW |
2 |
26,171,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4278:Ccdc187
|
UTSW |
2 |
26,172,239 (GRCm39) |
intron |
probably benign |
|
|
R4344:Ccdc187
|
UTSW |
2 |
26,170,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Ccdc187
|
UTSW |
2 |
26,183,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5537:Ccdc187
|
UTSW |
2 |
26,166,237 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5761:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5762:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5865:Ccdc187
|
UTSW |
2 |
26,183,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5925:Ccdc187
|
UTSW |
2 |
26,183,593 (GRCm39) |
missense |
probably benign |
|
|
R6261:Ccdc187
|
UTSW |
2 |
26,166,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6803:Ccdc187
|
UTSW |
2 |
26,179,791 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6888:Ccdc187
|
UTSW |
2 |
26,179,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6958:Ccdc187
|
UTSW |
2 |
26,179,731 (GRCm39) |
missense |
probably benign |
|
|
R7006:Ccdc187
|
UTSW |
2 |
26,171,102 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7358:Ccdc187
|
UTSW |
2 |
26,146,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7818:Ccdc187
|
UTSW |
2 |
26,166,186 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8048:Ccdc187
|
UTSW |
2 |
26,183,526 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8327:Ccdc187
|
UTSW |
2 |
26,170,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8353:Ccdc187
|
UTSW |
2 |
26,166,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8425:Ccdc187
|
UTSW |
2 |
26,171,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8453:Ccdc187
|
UTSW |
2 |
26,166,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8461:Ccdc187
|
UTSW |
2 |
26,183,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8534:Ccdc187
|
UTSW |
2 |
26,165,577 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8694:Ccdc187
|
UTSW |
2 |
26,165,505 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8745:Ccdc187
|
UTSW |
2 |
26,170,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8958:Ccdc187
|
UTSW |
2 |
26,165,577 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8972:Ccdc187
|
UTSW |
2 |
26,171,079 (GRCm39) |
missense |
probably benign |
|
|
R9214:Ccdc187
|
UTSW |
2 |
26,183,409 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9454:Ccdc187
|
UTSW |
2 |
26,166,114 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9542:Ccdc187
|
UTSW |
2 |
26,145,930 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9562:Ccdc187
|
UTSW |
2 |
26,183,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9565:Ccdc187
|
UTSW |
2 |
26,183,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9601:Ccdc187
|
UTSW |
2 |
26,143,445 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9727:Ccdc187
|
UTSW |
2 |
26,171,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9790:Ccdc187
|
UTSW |
2 |
26,171,227 (GRCm39) |
missense |
probably benign |
|
|
R9791:Ccdc187
|
UTSW |
2 |
26,171,227 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc187
|
UTSW |
2 |
26,171,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTTAAGAGAGGCTACCCAG -3'
(R):5'- ACCATGCTGGCTAGTGACTAAAC -3'
Sequencing Primer
(F):5'- CCCAGGTAGCAAAGAAATGTTCTCTG -3'
(R):5'- CATGCTGGCTAGTGACTAAACGATTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation