Incidental Mutation 'R0944:Ccdc81'
ID |
82009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc81
|
Ensembl Gene |
ENSMUSG00000039391 |
Gene Name |
coiled-coil domain containing 81 |
Synonyms |
4921513D09Rik |
MMRRC Submission |
039083-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R0944 (G1)
|
Quality Score |
213 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
89515356-89552837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89515777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 634
(N634S)
|
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: N634S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044087 Gene: ENSMUSG00000039391 AA Change: N634S
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 |
0.3099 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 94.3%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110018I06Rik |
G |
A |
12: 107,455,268 (GRCm39) |
R118K |
unknown |
Het |
Abcc6 |
T |
A |
7: 45,664,929 (GRCm39) |
I301F |
possibly damaging |
Het |
Akap9 |
C |
A |
5: 4,114,742 (GRCm39) |
|
probably null |
Het |
Alg6 |
A |
G |
4: 99,650,297 (GRCm39) |
I506V |
probably benign |
Het |
B3gat1 |
C |
T |
9: 26,668,237 (GRCm39) |
R276C |
probably damaging |
Het |
Camk1 |
A |
G |
6: 113,315,352 (GRCm39) |
Y105H |
probably damaging |
Het |
Clcn1 |
C |
A |
6: 42,290,075 (GRCm39) |
Q837K |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,506,510 (GRCm39) |
|
probably benign |
Het |
Col22a1 |
T |
C |
15: 71,753,511 (GRCm39) |
I130V |
probably benign |
Het |
Coro2b |
T |
C |
9: 62,335,263 (GRCm39) |
S308G |
probably benign |
Het |
Cpxm1 |
A |
G |
2: 130,239,423 (GRCm39) |
W2R |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,475,227 (GRCm39) |
N3364S |
probably damaging |
Het |
Dgkq |
A |
G |
5: 108,804,331 (GRCm39) |
V131A |
probably damaging |
Het |
Dnai1 |
A |
G |
4: 41,629,997 (GRCm39) |
S469G |
probably benign |
Het |
Efcab3 |
T |
G |
11: 104,601,556 (GRCm39) |
|
probably null |
Het |
Eml4 |
G |
A |
17: 83,785,489 (GRCm39) |
E885K |
probably benign |
Het |
Etfa |
A |
T |
9: 55,396,122 (GRCm39) |
I148N |
probably damaging |
Het |
Gpbar1 |
A |
G |
1: 74,318,681 (GRCm39) |
D308G |
probably benign |
Het |
Gprin3 |
T |
C |
6: 59,330,900 (GRCm39) |
E469G |
possibly damaging |
Het |
Igkv1-115 |
T |
C |
6: 68,138,667 (GRCm39) |
V90A |
probably damaging |
Het |
Ints2 |
A |
G |
11: 86,135,289 (GRCm39) |
V375A |
possibly damaging |
Het |
Mindy3 |
T |
C |
2: 12,400,993 (GRCm39) |
M242V |
possibly damaging |
Het |
Or11m3 |
A |
G |
15: 98,395,565 (GRCm39) |
I71V |
probably benign |
Het |
Or1n1b |
T |
C |
2: 36,780,698 (GRCm39) |
H54R |
probably damaging |
Het |
Or5t9 |
A |
C |
2: 86,659,281 (GRCm39) |
I62L |
probably benign |
Het |
P3h1 |
G |
A |
4: 119,095,956 (GRCm39) |
E355K |
probably benign |
Het |
Paxbp1 |
T |
C |
16: 90,820,315 (GRCm39) |
T703A |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,046,302 (GRCm39) |
Y193F |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,656,233 (GRCm39) |
V613A |
probably damaging |
Het |
Plekha5 |
T |
C |
6: 140,515,922 (GRCm39) |
|
probably benign |
Het |
Pmel |
A |
T |
10: 128,551,126 (GRCm39) |
Q123L |
possibly damaging |
Het |
Prl6a1 |
T |
C |
13: 27,502,149 (GRCm39) |
|
probably benign |
Het |
Rcan1 |
T |
C |
16: 92,190,379 (GRCm39) |
T187A |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,269,681 (GRCm39) |
S1756G |
probably benign |
Het |
Runx2 |
A |
T |
17: 44,919,123 (GRCm39) |
M405K |
probably damaging |
Het |
Serinc5 |
T |
C |
13: 92,797,613 (GRCm39) |
Y39H |
probably damaging |
Het |
Sgsm1 |
G |
A |
5: 113,413,740 (GRCm39) |
T676I |
probably benign |
Het |
Slc6a15 |
G |
C |
10: 103,245,657 (GRCm39) |
V547L |
probably benign |
Het |
Slk |
T |
C |
19: 47,597,432 (GRCm39) |
I80T |
probably damaging |
Het |
Spice1 |
A |
G |
16: 44,205,124 (GRCm39) |
N810S |
probably benign |
Het |
Spred2 |
A |
G |
11: 19,951,104 (GRCm39) |
|
probably benign |
Het |
Tbc1d4 |
C |
G |
14: 101,716,656 (GRCm39) |
|
probably benign |
Het |
Tdrd7 |
G |
A |
4: 46,029,762 (GRCm39) |
V1032M |
probably benign |
Het |
Tlr11 |
A |
G |
14: 50,599,793 (GRCm39) |
N593S |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,982,585 (GRCm39) |
|
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp25 |
T |
C |
16: 76,878,335 (GRCm39) |
|
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,167,665 (GRCm39) |
S640T |
probably benign |
Het |
Zc3h6 |
A |
G |
2: 128,848,736 (GRCm39) |
Y321C |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
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 |
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 |
|
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'- TTCGAAGTTCAGGGAATACGCAGG -3'
(R):5'- TGTTGGGGAGGTACTAGCACACAG -3'
Sequencing Primer
(F):5'- ACACGCAGGAAATAATTAGTCG -3'
(R):5'- GGTACTAGCACACAGCCTTTG -3'
|
Posted On |
2013-11-08 |