Incidental Mutation 'IGL02177:Ccdc81'
| ID |
283160 |
| 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 # |
IGL02177
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89515356-89552837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 89524988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 531
(M531R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041195]
[ENSMUST00000131966]
|
| AlphaFold |
Q9D5W4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041195
AA Change: M531R
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: M531R
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
G |
19: 53,205,323 (GRCm39) |
Y24* |
probably null |
Het |
| Catsperb |
A |
G |
12: 101,507,721 (GRCm39) |
Y496C |
probably damaging |
Het |
| Ccdc183 |
C |
T |
2: 25,502,095 (GRCm39) |
E260K |
probably benign |
Het |
| Cyp3a16 |
T |
A |
5: 145,386,964 (GRCm39) |
N342I |
probably benign |
Het |
| Defb43 |
T |
C |
14: 63,249,266 (GRCm39) |
V3A |
probably benign |
Het |
| Dpyd |
T |
A |
3: 118,858,559 (GRCm39) |
I591N |
possibly damaging |
Het |
| Dpysl5 |
T |
G |
5: 30,902,622 (GRCm39) |
V18G |
probably damaging |
Het |
| Erc2 |
A |
T |
14: 27,620,580 (GRCm39) |
M69L |
probably benign |
Het |
| Fam184b |
G |
T |
5: 45,690,157 (GRCm39) |
Y817* |
probably null |
Het |
| Fyb1 |
G |
T |
15: 6,688,047 (GRCm39) |
|
probably null |
Het |
| Gpr33 |
G |
T |
12: 52,070,863 (GRCm39) |
Q59K |
probably benign |
Het |
| Heatr3 |
T |
G |
8: 88,883,351 (GRCm39) |
F278V |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,819,103 (GRCm39) |
D1292E |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,341,793 (GRCm39) |
M1861L |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,242,627 (GRCm39) |
L614Q |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,318,588 (GRCm39) |
R915G |
possibly damaging |
Het |
| Jhy |
T |
C |
9: 40,809,553 (GRCm39) |
D646G |
probably damaging |
Het |
| Lrig1 |
T |
A |
6: 94,640,977 (GRCm39) |
N76I |
possibly damaging |
Het |
| Macc1 |
A |
G |
12: 119,429,292 (GRCm39) |
D814G |
probably damaging |
Het |
| Mapk8ip1 |
T |
C |
2: 92,217,092 (GRCm39) |
D401G |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,654,439 (GRCm39) |
S865T |
probably damaging |
Het |
| Or9s27 |
G |
A |
1: 92,516,479 (GRCm39) |
M142I |
possibly damaging |
Het |
| Pi4ka |
A |
T |
16: 17,136,146 (GRCm39) |
D937E |
probably benign |
Het |
| Prkcd |
T |
A |
14: 30,327,844 (GRCm39) |
I81F |
probably damaging |
Het |
| Ranbp9 |
A |
T |
13: 43,573,193 (GRCm39) |
C280S |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scn1b |
T |
C |
7: 30,816,655 (GRCm39) |
*219W |
probably null |
Het |
| Slain2 |
T |
C |
5: 73,072,008 (GRCm39) |
V14A |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,268,073 (GRCm39) |
|
probably benign |
Het |
| Tbc1d4 |
T |
A |
14: 101,692,375 (GRCm39) |
M1030L |
possibly damaging |
Het |
| Tenm4 |
T |
C |
7: 96,544,869 (GRCm39) |
V2295A |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,987,661 (GRCm39) |
Y46H |
probably damaging |
Het |
| Tnfsf18 |
A |
T |
1: 161,331,354 (GRCm39) |
D168V |
probably damaging |
Het |
| Trdn |
T |
C |
10: 33,015,169 (GRCm39) |
V41A |
probably damaging |
Het |
| Trpc5 |
G |
T |
X: 143,264,234 (GRCm39) |
L208I |
probably damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,139 (GRCm39) |
Y295H |
probably benign |
Het |
| Vmn2r18 |
T |
G |
5: 151,510,274 (GRCm39) |
H33P |
possibly damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,227,881 (GRCm39) |
I118M |
probably benign |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation