Incidental Mutation 'IGL01684:Ccdc66'
| ID |
103892 |
| 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 # |
IGL01684
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
27203047-27230417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27222206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 179
(E179G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050480]
[ENSMUST00000223689]
|
| AlphaFold |
Q6NS45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050480
|
| SMART Domains |
Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753
| 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 |
possibly damaging
Transcript: ENSMUST00000223689
AA Change: E179G
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ammecr1l |
G |
T |
18: 31,904,821 (GRCm39) |
V21F |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,116,740 (GRCm39) |
|
probably null |
Het |
| BC024139 |
A |
G |
15: 76,008,885 (GRCm39) |
L283P |
probably damaging |
Het |
| Cacna1h |
C |
T |
17: 25,607,690 (GRCm39) |
G876S |
probably damaging |
Het |
| Ckap5 |
T |
G |
2: 91,385,699 (GRCm39) |
D182E |
probably benign |
Het |
| Clk1 |
A |
G |
1: 58,456,424 (GRCm39) |
|
probably null |
Het |
| Dhx34 |
G |
A |
7: 15,937,204 (GRCm39) |
T831M |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,816,533 (GRCm39) |
I171T |
possibly damaging |
Het |
| Fscn2 |
G |
A |
11: 120,258,131 (GRCm39) |
R351H |
probably damaging |
Het |
| Gabbr2 |
G |
A |
4: 46,736,501 (GRCm39) |
S460L |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,838,330 (GRCm39) |
S308P |
possibly damaging |
Het |
| Guca1a |
T |
C |
17: 47,706,068 (GRCm39) |
D137G |
probably null |
Het |
| Heatr5a |
G |
A |
12: 52,002,294 (GRCm39) |
T214I |
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,160,051 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,359,723 (GRCm39) |
S1854P |
probably damaging |
Het |
| Mau2 |
A |
T |
8: 70,481,895 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,726,857 (GRCm39) |
I2639V |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,792,310 (GRCm39) |
M1544V |
possibly damaging |
Het |
| Ogdh |
G |
T |
11: 6,292,546 (GRCm39) |
V420L |
probably damaging |
Het |
| Or13a21 |
T |
C |
7: 139,998,828 (GRCm39) |
N286S |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,080,353 (GRCm39) |
F105S |
possibly damaging |
Het |
| Pcm1 |
A |
G |
8: 41,710,960 (GRCm39) |
T77A |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,216,241 (GRCm39) |
I947F |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,534,031 (GRCm39) |
|
probably benign |
Het |
| Ptch2 |
A |
G |
4: 116,961,984 (GRCm39) |
E107G |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,978,055 (GRCm39) |
E182G |
probably damaging |
Het |
| Rpl23a-ps3 |
C |
T |
14: 33,892,745 (GRCm39) |
|
noncoding transcript |
Het |
| Sorl1 |
T |
C |
9: 41,892,007 (GRCm39) |
D1881G |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,014,221 (GRCm39) |
N283S |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,741,361 (GRCm39) |
F30S |
probably damaging |
Het |
| Tiparp |
A |
T |
3: 65,460,754 (GRCm39) |
K581I |
probably damaging |
Het |
| Tle3 |
T |
C |
9: 61,310,728 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
C |
A |
2: 69,846,502 (GRCm39) |
Y1608* |
probably null |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,299 (GRCm39) |
T154A |
probably benign |
Het |
| Vta1 |
A |
G |
10: 14,559,875 (GRCm39) |
I115T |
probably damaging |
Het |
| Wwtr1 |
C |
A |
3: 57,483,210 (GRCm39) |
R31L |
probably damaging |
Het |
| Zfp385b |
T |
C |
2: 77,550,019 (GRCm39) |
D22G |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 82,975,326 (GRCm39) |
E508G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,581,191 (GRCm39) |
V76E |
possibly damaging |
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 |
|
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation