Incidental Mutation 'IGL00516:Ccdc66'
| ID |
4225 |
| 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: 0.153)
|
| Stock # |
IGL00516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
27203047-27230417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27220413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 267
(W267R)
|
| 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: W111R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753
AA Change: W111R
| 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 |
probably damaging
Transcript: ENSMUST00000223689
AA Change: W267R
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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
T |
C |
11: 80,267,638 (GRCm39) |
D91G |
possibly damaging |
Het |
| Abcc1 |
T |
A |
16: 14,231,176 (GRCm39) |
L438* |
probably null |
Het |
| Asph |
A |
T |
4: 9,639,322 (GRCm39) |
N14K |
probably damaging |
Het |
| Baz1b |
T |
C |
5: 135,245,444 (GRCm39) |
Y298H |
probably damaging |
Het |
| Cd81 |
A |
C |
7: 142,620,901 (GRCm39) |
K193N |
probably damaging |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Cflar |
T |
C |
1: 58,771,469 (GRCm39) |
I199T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,234,675 (GRCm39) |
S138P |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,452,707 (GRCm39) |
N2123S |
probably damaging |
Het |
| Crybg3 |
A |
G |
16: 59,350,803 (GRCm39) |
S846P |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,295 (GRCm39) |
I21M |
probably benign |
Het |
| Ddx41 |
T |
C |
13: 55,680,280 (GRCm39) |
T371A |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,306,418 (GRCm39) |
I425F |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,234,943 (GRCm39) |
D237G |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,082,393 (GRCm39) |
|
probably benign |
Het |
| Epc1 |
T |
A |
18: 6,450,515 (GRCm39) |
D367V |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,941,329 (GRCm39) |
V453A |
probably damaging |
Het |
| Hras |
A |
G |
7: 140,772,783 (GRCm39) |
I24T |
possibly damaging |
Het |
| Hsf2 |
A |
T |
10: 57,388,124 (GRCm39) |
I423L |
probably benign |
Het |
| Igkv2-109 |
T |
A |
6: 68,280,054 (GRCm39) |
S92T |
probably benign |
Het |
| Kiss1r |
G |
A |
10: 79,754,550 (GRCm39) |
A15T |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,848,601 (GRCm39) |
S17G |
probably damaging |
Het |
| Lrrc14b |
T |
C |
13: 74,509,078 (GRCm39) |
D443G |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,053,762 (GRCm39) |
V953E |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,154,829 (GRCm39) |
|
probably benign |
Het |
| Nadsyn1 |
T |
C |
7: 143,366,530 (GRCm39) |
E173G |
probably damaging |
Het |
| Neurl4 |
C |
T |
11: 69,801,219 (GRCm39) |
R1199W |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,900,706 (GRCm39) |
V333E |
probably damaging |
Het |
| Pdcd2l |
A |
T |
7: 33,884,246 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
A |
G |
10: 13,003,616 (GRCm39) |
|
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,696,736 (GRCm39) |
N122S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,964,512 (GRCm39) |
K917E |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,427,157 (GRCm39) |
K315E |
possibly damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Sytl2 |
A |
G |
7: 90,022,113 (GRCm39) |
T183A |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,708,367 (GRCm39) |
I1067N |
probably damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,154,861 (GRCm39) |
D192G |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,282,104 (GRCm39) |
I791N |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,373,554 (GRCm39) |
N966Y |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,640,703 (GRCm39) |
D1356V |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,185,394 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ccdc66 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-04-20 |
Incidental Mutation