Incidental Mutation 'R1078:Ccdc187'
ID |
85715 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc187
|
Ensembl Gene |
ENSMUSG00000048038 |
Gene Name |
coiled-coil domain containing 187 |
Synonyms |
4932418E24Rik |
MMRRC Submission |
039164-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R1078 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26161659-26184569 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26184389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 3
(T3A)
|
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: T3A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000054283 Gene: ENSMUSG00000048038 AA Change: T3A
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: T3A
|
Predicted Effect |
unknown
Transcript: ENSMUST00000227200
AA Change: T3A
|
Meta Mutation Damage Score |
0.4587 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.4%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130230L23Rik |
T |
C |
5: 66,145,698 (GRCm39) |
T138A |
unknown |
Het |
Abi3bp |
T |
C |
16: 56,474,444 (GRCm39) |
|
probably null |
Het |
Alpk3 |
A |
T |
7: 80,728,348 (GRCm39) |
M493L |
probably benign |
Het |
Bace2 |
C |
T |
16: 97,158,060 (GRCm39) |
A20V |
unknown |
Het |
Bms1 |
T |
C |
6: 118,382,182 (GRCm39) |
D452G |
probably benign |
Het |
Ctu2 |
T |
C |
8: 123,208,238 (GRCm39) |
V95A |
possibly damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,534,966 (GRCm39) |
K60E |
probably benign |
Het |
Cyp4f13 |
T |
C |
17: 33,144,542 (GRCm39) |
H318R |
probably damaging |
Het |
Dlgap5 |
G |
A |
14: 47,637,023 (GRCm39) |
T485M |
probably damaging |
Het |
Dsp |
C |
T |
13: 38,367,082 (GRCm39) |
|
probably benign |
Het |
Ell2 |
T |
C |
13: 75,894,538 (GRCm39) |
|
probably benign |
Het |
Eml2 |
A |
T |
7: 18,913,687 (GRCm39) |
Y168F |
probably benign |
Het |
Entrep1 |
T |
A |
19: 23,950,939 (GRCm39) |
R547S |
probably benign |
Het |
Ep400 |
C |
T |
5: 110,883,388 (GRCm39) |
|
probably benign |
Het |
Ercc4 |
C |
A |
16: 12,948,061 (GRCm39) |
A336D |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,037,235 (GRCm39) |
L3629S |
probably benign |
Het |
Gabbr2 |
C |
T |
4: 46,664,833 (GRCm39) |
R925H |
probably damaging |
Het |
Gfi1b |
A |
T |
2: 28,503,877 (GRCm39) |
W108R |
probably damaging |
Het |
Gtse1 |
C |
T |
15: 85,746,508 (GRCm39) |
P108L |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,026,696 (GRCm39) |
F140I |
probably damaging |
Het |
Hyal2 |
T |
A |
9: 107,449,445 (GRCm39) |
H400Q |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,902,585 (GRCm39) |
Y371H |
probably damaging |
Het |
Il22b |
T |
G |
10: 118,126,056 (GRCm39) |
*180C |
probably null |
Het |
Kdm2b |
T |
C |
5: 123,099,604 (GRCm39) |
T118A |
possibly damaging |
Het |
Lama5 |
A |
T |
2: 179,821,557 (GRCm39) |
|
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lmo7 |
C |
T |
14: 102,157,910 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
G |
T |
11: 103,388,457 (GRCm39) |
P2323T |
unknown |
Het |
Lrrc38 |
A |
G |
4: 143,077,088 (GRCm39) |
Y117C |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,291,281 (GRCm39) |
V1024A |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,612,637 (GRCm39) |
N904S |
possibly damaging |
Het |
Or12d13 |
T |
A |
17: 37,647,917 (GRCm39) |
I69F |
probably damaging |
Het |
Or4k47 |
T |
C |
2: 111,451,690 (GRCm39) |
H243R |
probably damaging |
Het |
Or9g4b |
T |
C |
2: 85,616,437 (GRCm39) |
V194A |
possibly damaging |
Het |
Pld4 |
A |
T |
12: 112,729,876 (GRCm39) |
I53F |
probably benign |
Het |
Plekhg4 |
T |
A |
8: 106,108,309 (GRCm39) |
C1117* |
probably null |
Het |
Prss39 |
G |
A |
1: 34,541,167 (GRCm39) |
E224K |
probably benign |
Het |
Psme1 |
G |
T |
14: 55,818,107 (GRCm39) |
G149V |
probably damaging |
Het |
Sanbr |
A |
C |
11: 23,561,762 (GRCm39) |
I358S |
probably benign |
Het |
Soat2 |
T |
A |
15: 102,061,573 (GRCm39) |
|
probably null |
Het |
Stab2 |
C |
T |
10: 86,742,997 (GRCm39) |
|
probably null |
Het |
Tcf7l2 |
A |
G |
19: 55,731,627 (GRCm39) |
T127A |
probably benign |
Het |
Tcp1 |
T |
C |
17: 13,142,091 (GRCm39) |
|
probably benign |
Het |
Thbs4 |
G |
A |
13: 92,899,434 (GRCm39) |
|
probably benign |
Het |
Tmf1 |
T |
C |
6: 97,150,261 (GRCm39) |
D482G |
probably damaging |
Het |
Trim66 |
G |
T |
7: 109,071,526 (GRCm39) |
P591H |
probably damaging |
Het |
Umodl1 |
T |
C |
17: 31,178,347 (GRCm39) |
S108P |
probably benign |
Het |
Unc79 |
T |
G |
12: 103,041,112 (GRCm39) |
M715R |
probably benign |
Het |
Usp34 |
C |
A |
11: 23,383,175 (GRCm39) |
|
probably benign |
Het |
Utrn |
T |
G |
10: 12,331,310 (GRCm39) |
|
probably null |
Het |
Zfp830 |
T |
C |
11: 82,656,165 (GRCm39) |
|
probably null |
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 |
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 |
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'- GCTCTTGTCCTGTCCACACAAACAC -3'
(R):5'- GGAAATCCCACAGCCATTGTCTACC -3'
Sequencing Primer
(F):5'- TGTCCACACAAACACTACCTGG -3'
(R):5'- TCAATGACTGTCCTGAGCATC -3'
|
Posted On |
2013-11-18 |