Incidental Mutation 'R8461:Ccdc187'
ID |
655255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc187
|
Ensembl Gene |
ENSMUSG00000048038 |
Gene Name |
coiled-coil domain containing 187 |
Synonyms |
4932418E24Rik |
MMRRC Submission |
067837-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R8461 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26161659-26184569 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26183814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 62
(L62P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057224]
[ENSMUST00000217256]
[ENSMUST00000227200]
|
AlphaFold |
Q8C5V8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057224
AA Change: L62P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000054283 Gene: ENSMUSG00000048038 AA Change: L62P
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: L62P
|
Predicted Effect |
unknown
Transcript: ENSMUST00000227200
AA Change: L62P
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
4921539E11Rik |
T |
C |
4: 103,112,712 (GRCm39) |
D132G |
probably benign |
Het |
Abca16 |
T |
C |
7: 120,035,918 (GRCm39) |
F334L |
possibly damaging |
Het |
Ache |
T |
C |
5: 137,288,582 (GRCm39) |
F96S |
probably damaging |
Het |
Actg1 |
T |
C |
11: 120,239,010 (GRCm39) |
T27A |
unknown |
Het |
Ankrd27 |
T |
C |
7: 35,326,911 (GRCm39) |
L752P |
probably damaging |
Het |
Atp1a1 |
T |
A |
3: 101,496,405 (GRCm39) |
T417S |
probably benign |
Het |
Atp6v0a1 |
T |
G |
11: 100,935,400 (GRCm39) |
L653R |
possibly damaging |
Het |
Aurkb |
T |
C |
11: 68,941,727 (GRCm39) |
V293A |
probably damaging |
Het |
C2cd5 |
A |
T |
6: 142,980,802 (GRCm39) |
D654E |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,001,440 (GRCm39) |
V297A |
possibly damaging |
Het |
Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
Cdh2 |
A |
G |
18: 16,783,522 (GRCm39) |
V69A |
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 103,998,280 (GRCm39) |
V1156A |
possibly damaging |
Het |
Defb37 |
G |
A |
8: 19,036,386 (GRCm39) |
H45Y |
unknown |
Het |
Dgke |
T |
C |
11: 88,939,819 (GRCm39) |
M367V |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,027,915 (GRCm39) |
K640R |
probably benign |
Het |
Gm5478 |
A |
T |
15: 101,554,652 (GRCm39) |
L148Q |
probably damaging |
Het |
Hhla1 |
A |
T |
15: 65,795,723 (GRCm39) |
S494R |
probably benign |
Het |
Kcne4 |
G |
A |
1: 78,795,433 (GRCm39) |
S27N |
probably benign |
Het |
Klhdc7b |
A |
T |
15: 89,271,824 (GRCm39) |
H244L |
probably damaging |
Het |
Lrrc40 |
T |
C |
3: 157,764,371 (GRCm39) |
S429P |
possibly damaging |
Het |
Map3k21 |
A |
T |
8: 126,671,361 (GRCm39) |
D883V |
probably benign |
Het |
Med4 |
T |
C |
14: 73,755,468 (GRCm39) |
S259P |
unknown |
Het |
Mrm3 |
T |
C |
11: 76,135,158 (GRCm39) |
I123T |
probably damaging |
Het |
Mrpl1 |
T |
A |
5: 96,361,646 (GRCm39) |
V11D |
probably damaging |
Het |
Myl1 |
G |
A |
1: 66,983,994 (GRCm39) |
P24L |
unknown |
Het |
Necap2 |
T |
C |
4: 140,797,531 (GRCm39) |
K168R |
probably damaging |
Het |
Nnt |
A |
G |
13: 119,505,038 (GRCm39) |
S559P |
unknown |
Het |
Nox4 |
T |
C |
7: 86,966,479 (GRCm39) |
F197L |
probably damaging |
Het |
Nup93 |
T |
C |
8: 95,007,963 (GRCm39) |
|
probably null |
Het |
Nxph2 |
T |
C |
2: 23,211,529 (GRCm39) |
V10A |
unknown |
Het |
Or1e16 |
T |
A |
11: 73,285,982 (GRCm39) |
I289F |
probably damaging |
Het |
Or8c11 |
T |
A |
9: 38,289,777 (GRCm39) |
V194D |
probably damaging |
Het |
Or8k38 |
G |
A |
2: 86,487,890 (GRCm39) |
T304I |
probably benign |
Het |
P2ry2 |
G |
T |
7: 100,647,895 (GRCm39) |
R137S |
possibly damaging |
Het |
Plxnb3 |
T |
C |
X: 72,803,103 (GRCm39) |
Y324H |
probably damaging |
Het |
Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
Ppme1 |
T |
C |
7: 100,021,012 (GRCm39) |
S7G |
probably benign |
Het |
Rabep1 |
T |
A |
11: 70,775,681 (GRCm39) |
M85K |
possibly damaging |
Het |
Ranbp2 |
T |
C |
10: 58,312,216 (GRCm39) |
Y979H |
probably damaging |
Het |
Rapgef5 |
T |
C |
12: 117,677,844 (GRCm39) |
S360P |
probably benign |
Het |
Rbm33 |
T |
A |
5: 28,592,970 (GRCm39) |
H623Q |
probably damaging |
Het |
Rev1 |
G |
T |
1: 38,122,868 (GRCm39) |
T450K |
possibly damaging |
Het |
Sec23ip |
T |
A |
7: 128,373,926 (GRCm39) |
L716Q |
probably benign |
Het |
Sp2 |
T |
C |
11: 96,846,739 (GRCm39) |
T535A |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,011,463 (GRCm39) |
S61P |
probably benign |
Het |
Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
Tmem131 |
G |
A |
1: 36,833,902 (GRCm39) |
S1726F |
probably damaging |
Het |
Trim13 |
T |
C |
14: 61,842,921 (GRCm39) |
Y313H |
probably benign |
Het |
Ttn |
A |
G |
2: 76,611,437 (GRCm39) |
V17365A |
possibly damaging |
Het |
Uap1l1 |
G |
A |
2: 25,255,422 (GRCm39) |
A69V |
probably benign |
Het |
Upp2 |
A |
G |
2: 58,670,068 (GRCm39) |
D258G |
probably benign |
Het |
Vmn1r44 |
A |
T |
6: 89,870,701 (GRCm39) |
H149L |
possibly damaging |
Het |
Zbtb49 |
T |
C |
5: 38,358,453 (GRCm39) |
D600G |
probably benign |
Het |
Zfp869 |
G |
T |
8: 70,160,305 (GRCm39) |
H89Q |
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 |
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'- CATGAGAAAGTGTGCATGATTCATG -3'
(R):5'- GTCAGGAGATGTCCATGTGG -3'
Sequencing Primer
(F):5'- AGACATTCTGCCGGATGAC -3'
(R):5'- GGTGGAGGAATTTTCTGGTTCC -3'
|
Posted On |
2020-10-20 |