Incidental Mutation 'R8327:Ccdc187'
| ID |
644141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc187
|
| Ensembl Gene |
ENSMUSG00000048038 |
| Gene Name |
coiled-coil domain containing 187 |
| Synonyms |
4932418E24Rik |
| MMRRC Submission |
067858-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R8327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26161659-26184569 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26170630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 616
(H616R)
|
| 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: H616R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: H616R
| 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: H616R
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227200
AA Change: H655R
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,331,685 (GRCm39) |
D843V |
possibly damaging |
Het |
| 6330409D20Rik |
T |
A |
2: 32,627,623 (GRCm39) |
Q111L |
unknown |
Het |
| Abcc5 |
C |
A |
16: 20,241,068 (GRCm39) |
R39L |
probably benign |
Het |
| Acbd3 |
C |
A |
1: 180,566,158 (GRCm39) |
Q284K |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,300,985 (GRCm39) |
L95P |
probably damaging |
Het |
| Apc2 |
T |
G |
10: 80,137,764 (GRCm39) |
D68E |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,051,015 (GRCm39) |
I1093F |
possibly damaging |
Het |
| Arid2 |
T |
A |
15: 96,260,485 (GRCm39) |
D411E |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,436,850 (GRCm39) |
Y811N |
probably damaging |
Het |
| Calhm5 |
A |
C |
10: 33,972,064 (GRCm39) |
F124V |
probably damaging |
Het |
| Ccdc198 |
C |
T |
14: 49,470,356 (GRCm39) |
G197S |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,627,762 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Dagla |
C |
T |
19: 10,228,451 (GRCm39) |
V656I |
probably benign |
Het |
| Dguok |
A |
C |
6: 83,464,061 (GRCm39) |
W166G |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,196,388 (GRCm39) |
A1603V |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,039,984 (GRCm39) |
Q138* |
probably null |
Het |
| Fbxl19 |
T |
A |
7: 127,347,520 (GRCm39) |
C25* |
probably null |
Het |
| Gm49383 |
C |
A |
12: 69,243,643 (GRCm39) |
E79* |
probably null |
Het |
| Lcor |
C |
T |
19: 41,570,996 (GRCm39) |
S63L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,322,268 (GRCm39) |
Y1887C |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,232,062 (GRCm39) |
D1305G |
probably damaging |
Het |
| Mreg |
C |
A |
1: 72,203,257 (GRCm39) |
R107L |
possibly damaging |
Het |
| Nbn |
T |
A |
4: 15,981,470 (GRCm39) |
S521T |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,231,059 (GRCm39) |
V437L |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,392,942 (GRCm39) |
M153V |
probably benign |
Het |
| Or51s1 |
A |
T |
7: 102,558,926 (GRCm39) |
I40N |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,186 (GRCm39) |
E311G |
possibly damaging |
Het |
| Pcdhb5 |
A |
C |
18: 37,453,953 (GRCm39) |
K111T |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,906,192 (GRCm39) |
I580V |
probably benign |
Het |
| Plaat3 |
T |
C |
19: 7,556,514 (GRCm39) |
L105P |
probably benign |
Het |
| Rbm15b |
A |
G |
9: 106,761,646 (GRCm39) |
S841P |
probably benign |
Het |
| Reep2 |
A |
G |
18: 34,975,566 (GRCm39) |
N31S |
probably damaging |
Het |
| Scmh1 |
C |
T |
4: 120,379,699 (GRCm39) |
H505Y |
probably benign |
Het |
| Setd1a |
T |
A |
7: 127,390,669 (GRCm39) |
L1115H |
unknown |
Het |
| Slc26a3 |
A |
G |
12: 31,516,430 (GRCm39) |
D596G |
possibly damaging |
Het |
| Smg5 |
G |
T |
3: 88,252,714 (GRCm39) |
A167S |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,277,004 (GRCm39) |
T255A |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,899,731 (GRCm39) |
A568T |
probably benign |
Het |
| Tmem132a |
G |
T |
19: 10,836,311 (GRCm39) |
P740T |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,351,680 (GRCm39) |
L353P |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,704,343 (GRCm39) |
E242G |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,680 (GRCm39) |
T189S |
probably benign |
Het |
| Zfp638 |
T |
G |
6: 83,905,679 (GRCm39) |
L44W |
probably damaging |
Het |
| Zfp715 |
G |
A |
7: 42,947,482 (GRCm39) |
T826I |
possibly damaging |
Het |
| Zfp865 |
G |
A |
7: 5,034,058 (GRCm39) |
S681N |
probably benign |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
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 |
|
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 |
|
R9702:Ccdc187
|
UTSW |
2 |
26,172,222 (GRCm39) |
missense |
unknown |
|
|
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'- GCTCAAAGGTTGGCTGATCC -3'
(R):5'- TTTGTGCAGAGGTCCAGTCC -3'
Sequencing Primer
(F):5'- CAAAGGTTGGCTGATCCTCTTTTTG -3'
(R):5'- CCTCCAGCAAGGGCAAAAGTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation