Incidental Mutation 'IGL03293:Ccdc66'
ID |
415957 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc66
|
Ensembl Gene |
ENSMUSG00000046753 |
Gene Name |
coiled-coil domain containing 66 |
Synonyms |
E230015L20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
IGL03293
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
27203047-27230417 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 27212628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 565
(N565I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153023
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050480]
[ENSMUST00000223689]
|
AlphaFold |
Q6NS45 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050480
AA Change: N409I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052546 Gene: ENSMUSG00000046753 AA Change: N409I
Domain | Start | End | E-Value | Type |
coiled coil region
|
252 |
284 |
N/A |
INTRINSIC |
Pfam:CCDC66
|
409 |
561 |
1e-49 |
PFAM |
low complexity region
|
715 |
721 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157990
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223689
AA Change: N565I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display slowly progressing photoreceptor degeneration. [provided by MGI curators]
|
Allele List at MGI |
All alleles(6) : Gene trapped(6)
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,615,375 (GRCm39) |
|
probably null |
Het |
Akr1c14 |
C |
T |
13: 4,129,130 (GRCm39) |
R45* |
probably null |
Het |
Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
Cerkl |
G |
T |
2: 79,172,719 (GRCm39) |
A318E |
probably damaging |
Het |
Clec4n |
A |
T |
6: 123,209,105 (GRCm39) |
T57S |
probably benign |
Het |
Cluh |
A |
G |
11: 74,556,578 (GRCm39) |
E921G |
probably benign |
Het |
Cnbd1 |
C |
T |
4: 18,860,565 (GRCm39) |
E394K |
possibly damaging |
Het |
Dmgdh |
G |
T |
13: 93,843,209 (GRCm39) |
M348I |
probably benign |
Het |
Dnajc13 |
G |
A |
9: 104,051,625 (GRCm39) |
S1744L |
possibly damaging |
Het |
Dspp |
A |
T |
5: 104,325,427 (GRCm39) |
S597C |
unknown |
Het |
Dync1h1 |
A |
T |
12: 110,595,168 (GRCm39) |
N1360I |
probably benign |
Het |
Eepd1 |
A |
G |
9: 25,514,708 (GRCm39) |
H505R |
possibly damaging |
Het |
Entr1 |
A |
T |
2: 26,277,688 (GRCm39) |
|
probably benign |
Het |
Gcnt7 |
T |
C |
2: 172,296,303 (GRCm39) |
T174A |
possibly damaging |
Het |
Gnb1 |
T |
C |
4: 155,625,004 (GRCm39) |
|
probably benign |
Het |
Gpam |
A |
G |
19: 55,059,448 (GRCm39) |
S800P |
probably benign |
Het |
Gsr |
T |
C |
8: 34,185,024 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,804,878 (GRCm39) |
K2302R |
probably benign |
Het |
Hipk1 |
C |
A |
3: 103,684,575 (GRCm39) |
A347S |
possibly damaging |
Het |
Iqgap2 |
T |
C |
13: 95,867,942 (GRCm39) |
N222S |
probably damaging |
Het |
Marco |
T |
A |
1: 120,422,524 (GRCm39) |
M46L |
probably benign |
Het |
Morc2b |
A |
T |
17: 33,357,337 (GRCm39) |
V145D |
probably damaging |
Het |
Mprip |
C |
A |
11: 59,586,989 (GRCm39) |
P54Q |
probably damaging |
Het |
Ndufv2 |
A |
T |
17: 66,390,444 (GRCm39) |
C175* |
probably null |
Het |
Or13c25 |
A |
G |
4: 52,910,835 (GRCm39) |
*320Q |
probably null |
Het |
Or4p20 |
T |
C |
2: 88,253,571 (GRCm39) |
D266G |
probably damaging |
Het |
Orc3 |
A |
C |
4: 34,595,210 (GRCm39) |
I195S |
probably damaging |
Het |
Otos |
C |
A |
1: 92,572,135 (GRCm39) |
E64* |
probably null |
Het |
Plxna2 |
T |
C |
1: 194,487,253 (GRCm39) |
S1603P |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,005,527 (GRCm39) |
I1151N |
probably benign |
Het |
Scaper |
A |
G |
9: 55,782,107 (GRCm39) |
V283A |
probably benign |
Het |
Slc25a43 |
A |
G |
X: 36,039,252 (GRCm39) |
T270A |
probably benign |
Het |
Slc35a5 |
A |
G |
16: 44,964,144 (GRCm39) |
V78A |
probably damaging |
Het |
Smurf1 |
A |
T |
5: 144,818,609 (GRCm39) |
D636E |
probably benign |
Het |
Tchhl1 |
A |
T |
3: 93,377,582 (GRCm39) |
E95D |
probably damaging |
Het |
Tcp10a |
A |
G |
17: 7,593,891 (GRCm39) |
E72G |
possibly damaging |
Het |
Tmem232 |
A |
G |
17: 65,757,369 (GRCm39) |
S275P |
probably damaging |
Het |
Ugt1a5 |
T |
C |
1: 88,094,540 (GRCm39) |
F256S |
probably damaging |
Het |
Ulbp3 |
A |
G |
10: 3,075,699 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r5 |
A |
G |
3: 64,398,747 (GRCm39) |
V744A |
probably benign |
Het |
Vmn2r53 |
A |
T |
7: 12,332,349 (GRCm39) |
S433R |
probably benign |
Het |
Vmn2r9 |
A |
T |
5: 108,995,997 (GRCm39) |
I217N |
probably damaging |
Het |
Wdr83 |
G |
T |
8: 85,807,216 (GRCm39) |
A10E |
probably benign |
Het |
|
Other mutations in Ccdc66 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Ccdc66
|
APN |
14 |
27,220,413 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01333:Ccdc66
|
APN |
14 |
27,215,272 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL01684:Ccdc66
|
APN |
14 |
27,222,206 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02327:Ccdc66
|
APN |
14 |
27,215,343 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02668:Ccdc66
|
APN |
14 |
27,219,298 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02698:Ccdc66
|
APN |
14 |
27,212,749 (GRCm39) |
nonsense |
probably null |
|
1mM(1):Ccdc66
|
UTSW |
14 |
27,220,732 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02796:Ccdc66
|
UTSW |
14 |
27,208,523 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0374:Ccdc66
|
UTSW |
14 |
27,220,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R0381:Ccdc66
|
UTSW |
14 |
27,213,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R0498:Ccdc66
|
UTSW |
14 |
27,222,197 (GRCm39) |
critical splice donor site |
probably null |
|
R0831:Ccdc66
|
UTSW |
14 |
27,219,313 (GRCm39) |
missense |
probably benign |
0.00 |
R0969:Ccdc66
|
UTSW |
14 |
27,219,319 (GRCm39) |
missense |
probably damaging |
0.98 |
R1558:Ccdc66
|
UTSW |
14 |
27,208,463 (GRCm39) |
missense |
probably benign |
0.41 |
R2203:Ccdc66
|
UTSW |
14 |
27,208,790 (GRCm39) |
missense |
probably benign |
0.03 |
R4015:Ccdc66
|
UTSW |
14 |
27,205,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R4225:Ccdc66
|
UTSW |
14 |
27,212,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Ccdc66
|
UTSW |
14 |
27,222,468 (GRCm39) |
missense |
probably benign |
0.31 |
R4600:Ccdc66
|
UTSW |
14 |
27,222,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R4601:Ccdc66
|
UTSW |
14 |
27,222,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R4603:Ccdc66
|
UTSW |
14 |
27,222,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R4610:Ccdc66
|
UTSW |
14 |
27,222,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R4611:Ccdc66
|
UTSW |
14 |
27,222,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R4832:Ccdc66
|
UTSW |
14 |
27,222,524 (GRCm39) |
missense |
probably benign |
0.00 |
R5098:Ccdc66
|
UTSW |
14 |
27,220,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R5322:Ccdc66
|
UTSW |
14 |
27,204,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R5586:Ccdc66
|
UTSW |
14 |
27,228,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R5681:Ccdc66
|
UTSW |
14 |
27,208,698 (GRCm39) |
missense |
probably benign |
0.07 |
R5788:Ccdc66
|
UTSW |
14 |
27,220,448 (GRCm39) |
missense |
probably benign |
0.10 |
R5790:Ccdc66
|
UTSW |
14 |
27,222,404 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6329:Ccdc66
|
UTSW |
14 |
27,208,441 (GRCm39) |
missense |
probably benign |
0.20 |
R7171:Ccdc66
|
UTSW |
14 |
27,215,229 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7268:Ccdc66
|
UTSW |
14 |
27,208,880 (GRCm39) |
missense |
probably benign |
0.24 |
R7337:Ccdc66
|
UTSW |
14 |
27,222,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R7348:Ccdc66
|
UTSW |
14 |
27,222,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R7552:Ccdc66
|
UTSW |
14 |
27,220,820 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8698:Ccdc66
|
UTSW |
14 |
27,212,647 (GRCm39) |
missense |
probably benign |
0.07 |
R8990:Ccdc66
|
UTSW |
14 |
27,208,655 (GRCm39) |
missense |
probably benign |
0.34 |
R9065:Ccdc66
|
UTSW |
14 |
27,213,850 (GRCm39) |
missense |
probably damaging |
0.98 |
R9455:Ccdc66
|
UTSW |
14 |
27,208,872 (GRCm39) |
missense |
probably benign |
0.01 |
R9599:Ccdc66
|
UTSW |
14 |
27,219,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |