Incidental Mutation 'R0490:Ccdc81'
ID |
43442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc81
|
Ensembl Gene |
ENSMUSG00000039391 |
Gene Name |
coiled-coil domain containing 81 |
Synonyms |
4921513D09Rik |
MMRRC Submission |
038688-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R0490 (G1)
|
Quality Score |
192 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
89515356-89552837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89536970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 226
(V226D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044087
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041195]
[ENSMUST00000131966]
|
AlphaFold |
Q9D5W4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041195
AA Change: V226D
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000044087 Gene: ENSMUSG00000039391 AA Change: V226D
Domain | Start | End | E-Value | Type |
Pfam:DUF4496
|
29 |
165 |
2.7e-47 |
PFAM |
low complexity region
|
224 |
233 |
N/A |
INTRINSIC |
low complexity region
|
344 |
355 |
N/A |
INTRINSIC |
coiled coil region
|
434 |
468 |
N/A |
INTRINSIC |
low complexity region
|
623 |
631 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131966
|
SMART Domains |
Protein: ENSMUSP00000117788 Gene: ENSMUSG00000039391
Domain | Start | End | E-Value | Type |
Pfam:DUF4496
|
28 |
165 |
2e-41 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,103,338 (GRCm39) |
Y640N |
probably damaging |
Het |
Adamts9 |
T |
A |
6: 92,849,847 (GRCm39) |
Q402L |
probably benign |
Het |
Als2cl |
A |
G |
9: 110,724,414 (GRCm39) |
T750A |
probably benign |
Het |
Ank1 |
C |
A |
8: 23,597,890 (GRCm39) |
|
probably benign |
Het |
Ap4e1 |
T |
A |
2: 126,888,106 (GRCm39) |
N404K |
probably damaging |
Het |
Atf7ip |
G |
T |
6: 136,586,190 (GRCm39) |
|
probably benign |
Het |
Bean1 |
A |
T |
8: 104,941,660 (GRCm39) |
T169S |
possibly damaging |
Het |
Bod1l |
G |
T |
5: 41,979,235 (GRCm39) |
T693N |
probably damaging |
Het |
Cd48 |
A |
G |
1: 171,532,445 (GRCm39) |
*241W |
probably null |
Het |
Cdon |
C |
A |
9: 35,363,978 (GRCm39) |
S32Y |
probably damaging |
Het |
Cers3 |
A |
G |
7: 66,423,438 (GRCm39) |
S128G |
possibly damaging |
Het |
Cntn6 |
T |
C |
6: 104,810,879 (GRCm39) |
V641A |
possibly damaging |
Het |
Col6a4 |
G |
A |
9: 105,890,969 (GRCm39) |
T1775I |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,919,393 (GRCm39) |
V1122A |
probably benign |
Het |
Dst |
G |
T |
1: 34,346,449 (GRCm39) |
G5102* |
probably null |
Het |
Dvl3 |
C |
T |
16: 20,346,173 (GRCm39) |
|
probably benign |
Het |
Epha5 |
G |
T |
5: 84,255,833 (GRCm39) |
|
probably benign |
Het |
Fscb |
G |
A |
12: 64,519,661 (GRCm39) |
P602S |
unknown |
Het |
Fxn |
A |
G |
19: 24,254,543 (GRCm39) |
|
probably null |
Het |
Gipc2 |
A |
G |
3: 151,808,291 (GRCm39) |
L254P |
possibly damaging |
Het |
Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
Gng8 |
A |
G |
7: 16,628,908 (GRCm39) |
T14A |
probably benign |
Het |
Gsdmc3 |
C |
T |
15: 63,732,099 (GRCm39) |
G309D |
possibly damaging |
Het |
Gsr |
T |
A |
8: 34,161,540 (GRCm39) |
|
probably benign |
Het |
Gtdc1 |
A |
T |
2: 44,525,052 (GRCm39) |
D152E |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,392,281 (GRCm39) |
D4063G |
probably damaging |
Het |
Hsdl2 |
C |
T |
4: 59,612,814 (GRCm39) |
|
probably benign |
Het |
Iqgap3 |
T |
C |
3: 88,021,363 (GRCm39) |
|
probably benign |
Het |
Kcnj10 |
A |
G |
1: 172,197,019 (GRCm39) |
T178A |
probably damaging |
Het |
Lama5 |
T |
A |
2: 179,821,962 (GRCm39) |
I2958F |
possibly damaging |
Het |
Lnx1 |
T |
A |
5: 74,781,008 (GRCm39) |
|
probably null |
Het |
Lpl |
A |
G |
8: 69,349,343 (GRCm39) |
R290G |
probably damaging |
Het |
Mamdc4 |
C |
T |
2: 25,453,593 (GRCm39) |
R1196K |
probably benign |
Het |
Mogat2 |
T |
C |
7: 98,872,351 (GRCm39) |
S167G |
probably benign |
Het |
Nek8 |
T |
A |
11: 78,058,555 (GRCm39) |
I582F |
probably benign |
Het |
Notch4 |
T |
A |
17: 34,801,864 (GRCm39) |
D1237E |
probably damaging |
Het |
Or2y8 |
A |
G |
11: 52,035,493 (GRCm39) |
I288T |
probably damaging |
Het |
Or5b104 |
A |
G |
19: 13,072,176 (GRCm39) |
Y279H |
probably damaging |
Het |
Or5b119 |
G |
A |
19: 13,456,857 (GRCm39) |
A235V |
probably damaging |
Het |
Or9i14 |
A |
G |
19: 13,792,219 (GRCm39) |
L245P |
probably damaging |
Het |
Pcdhb8 |
T |
C |
18: 37,489,833 (GRCm39) |
S504P |
probably damaging |
Het |
Pigs |
T |
C |
11: 78,226,451 (GRCm39) |
S223P |
probably damaging |
Het |
Prkch |
A |
G |
12: 73,806,450 (GRCm39) |
I566V |
probably damaging |
Het |
Ptpn22 |
T |
C |
3: 103,793,495 (GRCm39) |
S549P |
probably damaging |
Het |
Rita1 |
A |
T |
5: 120,749,630 (GRCm39) |
F28I |
probably damaging |
Het |
Rpgrip1l |
A |
T |
8: 92,026,473 (GRCm39) |
|
probably benign |
Het |
Slc1a1 |
A |
G |
19: 28,874,931 (GRCm39) |
K170E |
probably benign |
Het |
Spag17 |
C |
T |
3: 99,889,727 (GRCm39) |
R199W |
probably damaging |
Het |
Tas2r116 |
T |
C |
6: 132,832,984 (GRCm39) |
V195A |
probably benign |
Het |
Trav7d-3 |
C |
A |
14: 52,982,007 (GRCm39) |
|
probably benign |
Het |
Trim15 |
T |
C |
17: 37,177,247 (GRCm39) |
K138E |
probably benign |
Het |
Ttn |
T |
A |
2: 76,539,174 (GRCm39) |
H34604L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,577,876 (GRCm39) |
R16012K |
probably damaging |
Het |
Zfp948 |
T |
C |
17: 21,808,296 (GRCm39) |
V496A |
probably benign |
Het |
Zfy2 |
A |
T |
Y: 2,106,620 (GRCm39) |
S671R |
possibly damaging |
Het |
Zswim1 |
T |
A |
2: 164,667,203 (GRCm39) |
Y152N |
possibly damaging |
Het |
|
Other mutations in Ccdc81 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00763:Ccdc81
|
APN |
7 |
89,518,823 (GRCm39) |
splice site |
probably benign |
|
IGL01948:Ccdc81
|
APN |
7 |
89,525,063 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02177:Ccdc81
|
APN |
7 |
89,524,988 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02396:Ccdc81
|
APN |
7 |
89,530,857 (GRCm39) |
missense |
probably benign |
|
IGL02420:Ccdc81
|
APN |
7 |
89,524,946 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02536:Ccdc81
|
APN |
7 |
89,526,788 (GRCm39) |
splice site |
probably benign |
|
IGL03195:Ccdc81
|
APN |
7 |
89,545,916 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03397:Ccdc81
|
APN |
7 |
89,546,036 (GRCm39) |
missense |
probably damaging |
1.00 |
I0000:Ccdc81
|
UTSW |
7 |
89,547,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R0089:Ccdc81
|
UTSW |
7 |
89,542,324 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0409:Ccdc81
|
UTSW |
7 |
89,535,423 (GRCm39) |
missense |
probably benign |
0.01 |
R0449:Ccdc81
|
UTSW |
7 |
89,539,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Ccdc81
|
UTSW |
7 |
89,542,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R0562:Ccdc81
|
UTSW |
7 |
89,552,437 (GRCm39) |
missense |
probably benign |
0.02 |
R0801:Ccdc81
|
UTSW |
7 |
89,536,866 (GRCm39) |
splice site |
probably null |
|
R0944:Ccdc81
|
UTSW |
7 |
89,515,777 (GRCm39) |
missense |
probably damaging |
0.99 |
R1006:Ccdc81
|
UTSW |
7 |
89,515,769 (GRCm39) |
missense |
probably benign |
0.03 |
R1334:Ccdc81
|
UTSW |
7 |
89,515,769 (GRCm39) |
missense |
probably benign |
0.03 |
R1526:Ccdc81
|
UTSW |
7 |
89,525,081 (GRCm39) |
missense |
probably damaging |
0.99 |
R1623:Ccdc81
|
UTSW |
7 |
89,535,390 (GRCm39) |
missense |
probably benign |
0.00 |
R1753:Ccdc81
|
UTSW |
7 |
89,515,769 (GRCm39) |
missense |
probably benign |
0.03 |
R1885:Ccdc81
|
UTSW |
7 |
89,515,819 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1886:Ccdc81
|
UTSW |
7 |
89,515,819 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1887:Ccdc81
|
UTSW |
7 |
89,515,819 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1889:Ccdc81
|
UTSW |
7 |
89,531,502 (GRCm39) |
nonsense |
probably null |
|
R1964:Ccdc81
|
UTSW |
7 |
89,535,361 (GRCm39) |
missense |
probably benign |
|
R1997:Ccdc81
|
UTSW |
7 |
89,547,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R3725:Ccdc81
|
UTSW |
7 |
89,515,838 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5494:Ccdc81
|
UTSW |
7 |
89,526,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R5660:Ccdc81
|
UTSW |
7 |
89,542,337 (GRCm39) |
missense |
probably benign |
|
R6275:Ccdc81
|
UTSW |
7 |
89,531,519 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6434:Ccdc81
|
UTSW |
7 |
89,525,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R6711:Ccdc81
|
UTSW |
7 |
89,537,006 (GRCm39) |
missense |
probably damaging |
0.98 |
R7287:Ccdc81
|
UTSW |
7 |
89,542,331 (GRCm39) |
missense |
probably damaging |
0.98 |
R7582:Ccdc81
|
UTSW |
7 |
89,525,353 (GRCm39) |
missense |
probably damaging |
0.99 |
R7914:Ccdc81
|
UTSW |
7 |
89,524,988 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7976:Ccdc81
|
UTSW |
7 |
89,515,723 (GRCm39) |
nonsense |
probably null |
|
R7977:Ccdc81
|
UTSW |
7 |
89,525,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7987:Ccdc81
|
UTSW |
7 |
89,525,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7991:Ccdc81
|
UTSW |
7 |
89,539,609 (GRCm39) |
missense |
probably benign |
0.01 |
R8002:Ccdc81
|
UTSW |
7 |
89,525,343 (GRCm39) |
missense |
probably benign |
|
R8309:Ccdc81
|
UTSW |
7 |
89,526,786 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9031:Ccdc81
|
UTSW |
7 |
89,542,358 (GRCm39) |
missense |
probably benign |
0.03 |
RF018:Ccdc81
|
UTSW |
7 |
89,515,906 (GRCm39) |
splice site |
probably null |
|
X0061:Ccdc81
|
UTSW |
7 |
89,526,697 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Ccdc81
|
UTSW |
7 |
89,530,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACGGCATATGGAgaatcactgaa -3'
(R):5'- GCCCTGAACTCACCCCTGAGAC -3'
Sequencing Primer
(F):5'- acccaaccataaaccagaataaac -3'
(R):5'- ATATGGACTTGGCAGACTCTCAG -3'
|
Posted On |
2013-05-23 |