Incidental Mutation 'R0409:Ccdc81'
| ID |
36514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc81
|
| Ensembl Gene |
ENSMUSG00000039391 |
| Gene Name |
coiled-coil domain containing 81 |
| Synonyms |
4921513D09Rik |
| MMRRC Submission |
038611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R0409 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
89515356-89552837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89535423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 271
(V271A)
|
| 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: V271A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: V271A
| 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 |
0.0887 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
T |
10: 87,061,816 (GRCm39) |
A89S |
probably damaging |
Het |
| Alkbh3 |
T |
A |
2: 93,831,793 (GRCm39) |
I146F |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,375,783 (GRCm39) |
I871F |
possibly damaging |
Het |
| Birc2 |
A |
C |
9: 7,819,385 (GRCm39) |
V509G |
possibly damaging |
Het |
| Car7 |
G |
A |
8: 105,275,056 (GRCm39) |
A165T |
probably damaging |
Het |
| Cdc40 |
G |
T |
10: 40,723,164 (GRCm39) |
H302N |
probably damaging |
Het |
| Cep104 |
C |
T |
4: 154,067,510 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
C |
A |
10: 92,612,075 (GRCm39) |
S3161I |
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,942,282 (GRCm39) |
|
probably benign |
Het |
| Chil6 |
C |
T |
3: 106,311,492 (GRCm39) |
G96D |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,475,483 (GRCm39) |
K531E |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Disp3 |
T |
G |
4: 148,356,416 (GRCm39) |
E148A |
probably damaging |
Het |
| Eps8l2 |
A |
G |
7: 140,922,893 (GRCm39) |
Y52C |
probably damaging |
Het |
| Exph5 |
C |
A |
9: 53,285,643 (GRCm39) |
T908K |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,031,562 (GRCm39) |
S2449F |
probably damaging |
Het |
| Faxc |
T |
A |
4: 21,948,751 (GRCm39) |
N154K |
probably benign |
Het |
| Fbxo43 |
C |
T |
15: 36,162,503 (GRCm39) |
A235T |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,180 (GRCm39) |
|
probably null |
Het |
| Fsd1l |
T |
C |
4: 53,679,932 (GRCm39) |
L210P |
probably benign |
Het |
| Gm6420 |
A |
C |
1: 23,295,119 (GRCm39) |
S123R |
unknown |
Het |
| Gm8801 |
T |
G |
17: 36,258,268 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfb |
T |
C |
14: 47,053,679 (GRCm39) |
I36V |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,427,443 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,829,339 (GRCm39) |
I969L |
possibly damaging |
Het |
| Il21r |
G |
T |
7: 125,229,012 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,867,063 (GRCm39) |
F893L |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,472,739 (GRCm39) |
I1715V |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,287,628 (GRCm39) |
I1339T |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,549,810 (GRCm39) |
D1127G |
probably benign |
Het |
| Noc3l |
A |
G |
19: 38,806,371 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
A |
G |
8: 95,030,293 (GRCm39) |
D384G |
probably damaging |
Het |
| Or5m9b |
T |
A |
2: 85,905,646 (GRCm39) |
C187* |
probably null |
Het |
| Or5p54 |
T |
C |
7: 107,554,433 (GRCm39) |
I195T |
probably benign |
Het |
| Or8b40 |
C |
T |
9: 38,027,547 (GRCm39) |
L152F |
probably benign |
Het |
| Pls1 |
A |
T |
9: 95,668,972 (GRCm39) |
|
probably benign |
Het |
| Prkcb |
A |
T |
7: 122,024,200 (GRCm39) |
H75L |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,449 (GRCm39) |
Y539* |
probably null |
Het |
| Rnf10 |
A |
T |
5: 115,393,506 (GRCm39) |
|
probably benign |
Het |
| Rnpepl1 |
A |
G |
1: 92,843,582 (GRCm39) |
Y234C |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,741,717 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
T |
A |
2: 144,409,832 (GRCm39) |
M240K |
probably benign |
Het |
| Sema5a |
A |
T |
15: 32,681,755 (GRCm39) |
N945Y |
probably damaging |
Het |
| Snapc4 |
C |
A |
2: 26,257,228 (GRCm39) |
R799L |
probably benign |
Het |
| Spata31g1 |
A |
C |
4: 42,972,203 (GRCm39) |
K512T |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,599,860 (GRCm39) |
|
probably benign |
Het |
| Tex56 |
A |
T |
13: 35,108,532 (GRCm39) |
I5L |
probably benign |
Het |
| Tfpt |
G |
A |
7: 3,623,898 (GRCm39) |
Q50* |
probably null |
Het |
| Trim80 |
T |
C |
11: 115,332,039 (GRCm39) |
V77A |
probably damaging |
Het |
| Trp73 |
T |
A |
4: 154,148,841 (GRCm39) |
D256V |
possibly damaging |
Het |
| Utrn |
G |
T |
10: 12,519,345 (GRCm39) |
N2202K |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,858,926 (GRCm39) |
F2792Y |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCACCTCTAGAATCCCCATCAC -3'
(R):5'- GGCACACTCAGTCTTAATAGGGCAG -3'
Sequencing Primer
(F):5'- CCCATCACGTCTCACATAGAATG -3'
(R):5'- TTAAACAAAAGAAAGAGCACGGTTAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation