Incidental Mutation 'IGL02327:Ccdc66'
| ID |
288531 |
| 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 # |
IGL02327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
27203047-27230417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27215343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 399
(A399V)
|
| 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: A243V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753
AA Change: A243V
| 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: A399V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd9 |
A |
T |
12: 110,943,849 (GRCm39) |
C29S |
probably damaging |
Het |
| Ccl12 |
A |
G |
11: 81,993,948 (GRCm39) |
I68M |
possibly damaging |
Het |
| Cd244a |
T |
C |
1: 171,386,909 (GRCm39) |
V6A |
probably benign |
Het |
| Cfap97 |
T |
A |
8: 46,623,179 (GRCm39) |
S190T |
probably damaging |
Het |
| Chic2 |
G |
T |
5: 75,187,741 (GRCm39) |
C106* |
probably null |
Het |
| Ctdsp2 |
G |
A |
10: 126,832,251 (GRCm39) |
D237N |
probably benign |
Het |
| Cyp2a22 |
A |
T |
7: 26,634,206 (GRCm39) |
M316K |
probably damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,923,731 (GRCm39) |
F304S |
possibly damaging |
Het |
| Ddc |
A |
T |
11: 11,813,739 (GRCm39) |
V209D |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,194,717 (GRCm39) |
K446R |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,439,274 (GRCm39) |
K241E |
probably damaging |
Het |
| Hps1 |
G |
T |
19: 42,744,784 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
C |
T |
8: 82,768,591 (GRCm39) |
T700I |
probably benign |
Het |
| Kremen2 |
T |
A |
17: 23,962,543 (GRCm39) |
M157L |
probably benign |
Het |
| Lrwd1 |
T |
C |
5: 136,152,318 (GRCm39) |
Y582C |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,365,523 (GRCm39) |
R1514S |
probably benign |
Het |
| Mex3c |
T |
A |
18: 73,723,781 (GRCm39) |
C625S |
probably damaging |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Ncf2 |
A |
T |
1: 152,692,744 (GRCm39) |
Y87F |
possibly damaging |
Het |
| Neo1 |
T |
C |
9: 58,810,371 (GRCm39) |
T1027A |
probably benign |
Het |
| Nfkbib |
G |
T |
7: 28,458,568 (GRCm39) |
P347Q |
probably benign |
Het |
| Nr1h2 |
G |
A |
7: 44,200,924 (GRCm39) |
|
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,981 (GRCm39) |
T192S |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,761 (GRCm39) |
R137W |
probably damaging |
Het |
| Or9m2 |
A |
T |
2: 87,820,601 (GRCm39) |
I49F |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,066,571 (GRCm39) |
|
probably null |
Het |
| Pak1ip1 |
T |
G |
13: 41,165,893 (GRCm39) |
N308K |
probably benign |
Het |
| Prpf38a |
T |
C |
4: 108,425,607 (GRCm39) |
R224G |
unknown |
Het |
| Scfd1 |
T |
C |
12: 51,436,100 (GRCm39) |
V83A |
possibly damaging |
Het |
| Tmem131 |
C |
T |
1: 36,838,103 (GRCm39) |
G1545D |
probably damaging |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,567 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,248,967 (GRCm39) |
D1155G |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,680,832 (GRCm39) |
V2143I |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,487,987 (GRCm39) |
Y287H |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,655 (GRCm39) |
V720A |
probably benign |
Het |
| Wars1 |
T |
A |
12: 108,832,227 (GRCm39) |
|
probably null |
Het |
| Wdcp |
A |
G |
12: 4,901,115 (GRCm39) |
K324E |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,036,058 (GRCm39) |
L2105H |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,340,444 (GRCm39) |
D895V |
probably damaging |
Het |
| Zscan10 |
A |
T |
17: 23,826,546 (GRCm39) |
|
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 |
|
IGL02668:Ccdc66
|
APN |
14 |
27,219,298 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02698:Ccdc66
|
APN |
14 |
27,212,749 (GRCm39) |
nonsense |
probably null |
|
|
IGL03293:Ccdc66
|
APN |
14 |
27,212,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation