Incidental Mutation 'R4015:Ccdc66'
ID |
311918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc66
|
Ensembl Gene |
ENSMUSG00000046753 |
Gene Name |
coiled-coil domain containing 66 |
Synonyms |
E230015L20Rik |
MMRRC Submission |
040952-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
R4015 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
27203047-27230417 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27205793 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 898
(I898T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153023
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022450]
[ENSMUST00000050480]
[ENSMUST00000223689]
|
AlphaFold |
Q6NS45 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022450
|
SMART Domains |
Protein: ENSMUSP00000022450 Gene: ENSMUSG00000040651
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
27 |
N/A |
INTRINSIC |
low complexity region
|
42 |
61 |
N/A |
INTRINSIC |
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
Pfam:DUF3715
|
153 |
314 |
1.5e-55 |
PFAM |
low complexity region
|
442 |
457 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1102 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050480
AA Change: I742T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052546 Gene: ENSMUSG00000046753 AA Change: I742T
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: I898T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224837
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225139
|
Meta Mutation Damage Score |
0.1772 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
Validation Efficiency |
97% (38/39) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
C |
T |
1: 75,151,135 (GRCm39) |
|
probably null |
Het |
Cacna1e |
T |
C |
1: 154,358,331 (GRCm39) |
D580G |
probably damaging |
Het |
Celf3 |
T |
C |
3: 94,394,505 (GRCm39) |
V202A |
probably benign |
Het |
Cfap161 |
C |
T |
7: 83,429,479 (GRCm39) |
G180S |
probably benign |
Het |
Col5a2 |
T |
C |
1: 45,442,631 (GRCm39) |
I605V |
probably benign |
Het |
Coq6 |
A |
G |
12: 84,413,671 (GRCm39) |
H67R |
probably benign |
Het |
Cyp2b19 |
T |
C |
7: 26,461,768 (GRCm39) |
F196S |
probably damaging |
Het |
Cyp4a14 |
G |
T |
4: 115,348,331 (GRCm39) |
P382Q |
probably damaging |
Het |
Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
Ddias |
T |
C |
7: 92,509,069 (GRCm39) |
K282R |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,854,990 (GRCm39) |
Q1965R |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
Mocs2 |
T |
C |
13: 114,957,334 (GRCm39) |
|
probably benign |
Het |
Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
Nalcn |
T |
G |
14: 123,723,799 (GRCm39) |
E422A |
probably damaging |
Het |
Pcdh17 |
T |
C |
14: 84,684,547 (GRCm39) |
V338A |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rbm12b1 |
T |
C |
4: 12,145,491 (GRCm39) |
S488P |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Srcap |
C |
A |
7: 127,124,595 (GRCm39) |
P255Q |
probably benign |
Het |
Sult6b2 |
T |
A |
6: 142,735,988 (GRCm39) |
N202I |
possibly damaging |
Het |
Tcf7l1 |
A |
G |
6: 72,613,382 (GRCm39) |
|
probably benign |
Het |
Tef |
T |
C |
15: 81,707,806 (GRCm39) |
V261A |
probably damaging |
Het |
Trio |
C |
T |
15: 27,744,187 (GRCm39) |
V2582I |
possibly damaging |
Het |
Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
Unc13b |
G |
A |
4: 43,237,801 (GRCm39) |
G3441R |
probably damaging |
Het |
Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
Zfp867 |
A |
G |
11: 59,354,520 (GRCm39) |
F270L |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCAGCCTGGACTAGGATC -3'
(R):5'- GACCTTCCAACCCTAAATTTGC -3'
Sequencing Primer
(F):5'- GCTTCCCAAATGTTGATTATGCAGG -3'
(R):5'- CCCGAGAACAAGAGCTATT -3'
|
Posted On |
2015-04-29 |