Incidental Mutation 'IGL02536:Ccdc81'
| ID |
297531 |
| 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 # |
IGL02536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89515356-89552837 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 89526788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041195]
[ENSMUST00000131966]
|
| AlphaFold |
Q9D5W4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041195
|
| SMART Domains |
Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
A |
3: 59,685,665 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8b |
C |
T |
11: 109,872,574 (GRCm39) |
R9H |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,873,368 (GRCm39) |
S858T |
probably benign |
Het |
| Alg1 |
C |
T |
16: 5,057,023 (GRCm39) |
Q245* |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,813,910 (GRCm39) |
Y423C |
probably damaging |
Het |
| Anp32a |
A |
T |
9: 62,279,110 (GRCm39) |
T55S |
probably damaging |
Het |
| Arhgef9 |
A |
C |
X: 94,102,443 (GRCm39) |
V406G |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,571,259 (GRCm39) |
F275S |
possibly damaging |
Het |
| Card9 |
C |
T |
2: 26,248,844 (GRCm39) |
V102I |
possibly damaging |
Het |
| Cd101 |
T |
A |
3: 100,910,913 (GRCm39) |
D915V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,754 (GRCm39) |
D77G |
possibly damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,435,540 (GRCm39) |
T827A |
probably benign |
Het |
| Dspp |
A |
C |
5: 104,323,531 (GRCm39) |
T225P |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,112,035 (GRCm39) |
E1885G |
probably damaging |
Het |
| Fstl4 |
C |
T |
11: 53,024,851 (GRCm39) |
|
probably benign |
Het |
| Gm5930 |
T |
A |
14: 44,575,015 (GRCm39) |
N57I |
probably damaging |
Het |
| Gnl2 |
C |
T |
4: 124,946,401 (GRCm39) |
Q541* |
probably null |
Het |
| Igkv3-1 |
T |
C |
6: 70,681,035 (GRCm39) |
V78A |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,147,338 (GRCm39) |
I321T |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,951,959 (GRCm39) |
S1746T |
probably benign |
Het |
| Lrrc8c |
T |
C |
5: 105,755,038 (GRCm39) |
I271T |
probably benign |
Het |
| Mrps10 |
T |
C |
17: 47,685,928 (GRCm39) |
Y152H |
probably damaging |
Het |
| Myl9 |
C |
T |
2: 156,620,469 (GRCm39) |
S2L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,938,103 (GRCm39) |
H870Q |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,067,367 (GRCm39) |
I456F |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,009,723 (GRCm39) |
H550R |
probably benign |
Het |
| Or13f5 |
T |
A |
4: 52,825,817 (GRCm39) |
V140D |
possibly damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
| Or51v8 |
T |
A |
7: 103,320,164 (GRCm39) |
I25F |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,460 (GRCm39) |
L144P |
probably damaging |
Het |
| P2rx1 |
A |
T |
11: 72,903,300 (GRCm39) |
I230F |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,216,063 (GRCm39) |
V2275A |
possibly damaging |
Het |
| Pip5k1a |
G |
A |
3: 94,971,707 (GRCm39) |
T465I |
probably benign |
Het |
| Pnkd |
G |
A |
1: 74,391,059 (GRCm39) |
R415H |
probably damaging |
Het |
| Prdx4 |
T |
A |
X: 154,115,443 (GRCm39) |
I132F |
probably damaging |
Het |
| Pvr |
A |
G |
7: 19,652,717 (GRCm39) |
M66T |
probably benign |
Het |
| Rnf216 |
A |
G |
5: 143,065,995 (GRCm39) |
I531T |
probably benign |
Het |
| Rps6ka4 |
A |
T |
19: 6,809,439 (GRCm39) |
F405Y |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,452,679 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
A |
G |
13: 54,239,513 (GRCm39) |
K12R |
probably benign |
Het |
| Slc17a7 |
A |
G |
7: 44,820,370 (GRCm39) |
E275G |
probably damaging |
Het |
| Tnpo2 |
A |
T |
8: 85,771,696 (GRCm39) |
I245F |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,689,463 (GRCm39) |
|
probably null |
Het |
| Yju2b |
A |
T |
8: 84,987,245 (GRCm39) |
Y109* |
probably null |
Het |
| Zcchc4 |
C |
T |
5: 52,965,658 (GRCm39) |
R321W |
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 |
|
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