Incidental Mutation 'IGL03195:Ccdc81'
ID |
412780 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc81
|
Ensembl Gene |
ENSMUSG00000039391 |
Gene Name |
coiled-coil domain containing 81 |
Synonyms |
4921513D09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
IGL03195
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
89515356-89552837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89545916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 96
(V96E)
|
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: V96E
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000044087 Gene: ENSMUSG00000039391 AA Change: V96E
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
AA Change: V96E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000117788 Gene: ENSMUSG00000039391 AA Change: V96E
Domain | Start | End | E-Value | Type |
Pfam:DUF4496
|
28 |
165 |
2e-41 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,903,607 (GRCm39) |
D1086G |
possibly damaging |
Het |
Ahcyl2 |
T |
C |
6: 29,906,768 (GRCm39) |
|
probably benign |
Het |
Ankrd42 |
T |
A |
7: 92,241,066 (GRCm39) |
Q431L |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,031,766 (GRCm39) |
F592I |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,088,071 (GRCm39) |
|
probably null |
Het |
Boc |
A |
G |
16: 44,313,184 (GRCm39) |
F560S |
probably damaging |
Het |
Cep162 |
C |
T |
9: 87,107,839 (GRCm39) |
S517N |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,085,178 (GRCm39) |
N372S |
probably benign |
Het |
Dnah7a |
G |
A |
1: 53,458,766 (GRCm39) |
R3791C |
probably damaging |
Het |
Fdxr |
T |
C |
11: 115,166,918 (GRCm39) |
Q57R |
probably benign |
Het |
Fsip2l |
T |
A |
X: 47,961,825 (GRCm39) |
Q296L |
possibly damaging |
Het |
G3bp2 |
A |
G |
5: 92,216,367 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,678,660 (GRCm39) |
T487I |
probably benign |
Het |
Kpna7 |
A |
T |
5: 144,933,847 (GRCm39) |
I282N |
probably damaging |
Het |
Lif |
A |
T |
11: 4,219,201 (GRCm39) |
Y160F |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,361,134 (GRCm39) |
D556E |
possibly damaging |
Het |
Myom2 |
G |
T |
8: 15,161,844 (GRCm39) |
E954* |
probably null |
Het |
Nr6a1 |
A |
T |
2: 38,632,948 (GRCm39) |
I171N |
probably damaging |
Het |
Nup210 |
C |
A |
6: 90,992,832 (GRCm39) |
R1059L |
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,770,877 (GRCm39) |
T3A |
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,351,980 (GRCm39) |
I205T |
probably benign |
Het |
Or2w25 |
G |
A |
11: 59,504,629 (GRCm39) |
V280M |
probably damaging |
Het |
Or5ak4 |
A |
T |
2: 85,161,864 (GRCm39) |
I126N |
probably damaging |
Het |
Or5aq6 |
A |
T |
2: 86,922,913 (GRCm39) |
V276E |
probably damaging |
Het |
Ostm1 |
T |
C |
10: 42,574,213 (GRCm39) |
V302A |
probably damaging |
Het |
Oxct1 |
A |
G |
15: 4,130,671 (GRCm39) |
M388V |
possibly damaging |
Het |
Ppp6r2 |
G |
A |
15: 89,152,758 (GRCm39) |
V300I |
possibly damaging |
Het |
Prmt1 |
T |
C |
7: 44,626,995 (GRCm39) |
Y205C |
probably damaging |
Het |
Slc45a4 |
A |
C |
15: 73,456,272 (GRCm39) |
V636G |
possibly damaging |
Het |
Spata18 |
T |
A |
5: 73,828,591 (GRCm39) |
L270Q |
probably damaging |
Het |
Stard9 |
G |
A |
2: 120,536,283 (GRCm39) |
D4151N |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 129,556,646 (GRCm39) |
C334Y |
probably damaging |
Het |
Tmtc3 |
C |
T |
10: 100,294,896 (GRCm39) |
V406M |
probably benign |
Het |
Trpc5 |
T |
A |
X: 143,165,724 (GRCm39) |
M900L |
probably benign |
Het |
Ttc9c |
T |
C |
19: 8,793,344 (GRCm39) |
K99E |
probably benign |
Het |
Vmn1r73 |
A |
G |
7: 11,491,007 (GRCm39) |
E275G |
probably 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 |
|
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 |
R0490:Ccdc81
|
UTSW |
7 |
89,536,970 (GRCm39) |
missense |
probably benign |
0.28 |
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 |
|
Posted On |
2016-08-02 |