Incidental Mutation 'R5494:Ccdc81'
| ID |
432237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc81
|
| Ensembl Gene |
ENSMUSG00000039391 |
| Gene Name |
coiled-coil domain containing 81 |
| Synonyms |
4921513D09Rik |
| MMRRC Submission |
043055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R5494 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
89515356-89552837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89526781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 410
(S410P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041195]
[ENSMUST00000131966]
|
| AlphaFold |
Q9D5W4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041195
AA Change: S410P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: S410P
| 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 |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,223,165 (GRCm39) |
E436G |
probably damaging |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,762 (GRCm39) |
N3415D |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,882,121 (GRCm39) |
E139G |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,864,995 (GRCm39) |
L1374P |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,555,431 (GRCm39) |
E809G |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,159,546 (GRCm39) |
R8L |
possibly damaging |
Het |
| Ddn |
C |
A |
15: 98,704,884 (GRCm39) |
R82L |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,771,394 (GRCm39) |
|
probably null |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,858,990 (GRCm39) |
*415W |
probably null |
Het |
| Fry |
A |
T |
5: 150,314,132 (GRCm39) |
D789V |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,207,178 (GRCm39) |
|
probably null |
Het |
| Gemin5 |
T |
A |
11: 58,021,526 (GRCm39) |
Y1025F |
probably damaging |
Het |
| Gjb5 |
C |
T |
4: 127,249,347 (GRCm39) |
V266M |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,900,567 (GRCm39) |
Q1318L |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,749,045 (GRCm39) |
N3056K |
possibly damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,183 (GRCm39) |
D342V |
probably damaging |
Het |
| H1f9 |
T |
C |
11: 94,858,843 (GRCm39) |
L46S |
probably benign |
Het |
| Hc |
A |
T |
2: 34,893,551 (GRCm39) |
|
probably null |
Het |
| Heg1 |
A |
G |
16: 33,545,804 (GRCm39) |
D185G |
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,912,032 (GRCm39) |
M1865K |
possibly damaging |
Het |
| Il27 |
A |
G |
7: 126,192,100 (GRCm39) |
L12P |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,759,149 (GRCm39) |
C5Y |
unknown |
Het |
| Med25 |
C |
T |
7: 44,535,225 (GRCm39) |
V170M |
probably damaging |
Het |
| Mgat4a |
T |
A |
1: 37,493,898 (GRCm39) |
Y316F |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,899,709 (GRCm39) |
V725A |
unknown |
Het |
| Or52ac1 |
C |
A |
7: 104,245,932 (GRCm39) |
G152V |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,576,950 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,300 (GRCm39) |
S697P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,075,579 (GRCm39) |
Y751C |
probably damaging |
Het |
| Rbms2 |
G |
T |
10: 127,973,560 (GRCm39) |
T252N |
probably damaging |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Scfd1 |
A |
G |
12: 51,443,522 (GRCm39) |
|
probably null |
Het |
| Shank3 |
C |
T |
15: 89,432,441 (GRCm39) |
T1062M |
probably damaging |
Het |
| Slc28a1 |
G |
A |
7: 80,817,787 (GRCm39) |
G552E |
probably damaging |
Het |
| Sntn |
A |
G |
14: 13,682,214 (GRCm38) |
R96G |
probably benign |
Het |
| Tas2r102 |
T |
C |
6: 132,740,106 (GRCm39) |
V338A |
probably benign |
Het |
| Trim62 |
A |
T |
4: 128,778,999 (GRCm39) |
N145Y |
possibly damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,666,031 (GRCm39) |
T863I |
possibly damaging |
Het |
| Ubr5 |
C |
T |
15: 38,019,525 (GRCm39) |
C739Y |
possibly damaging |
Het |
| Vps13c |
G |
A |
9: 67,855,428 (GRCm39) |
V2498I |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
|
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 |
|
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'- CTTTCCGTGCACATGTGATGG -3'
(R):5'- AGGCTGGGCATTGAGCTTATC -3'
Sequencing Primer
(F):5'- GATGGACTCACTCCTCTGTG -3'
(R):5'- CAACTTTATCACGGAACATGCTCATG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation