Incidental Mutation 'IGL02796:Ccdc66'
| ID |
392037 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02796 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
27203047-27230417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27208523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 577
(E577G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052546
(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 |
possibly damaging
Transcript: ENSMUST00000050480
AA Change: E577G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753
AA Change: E577G
| 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 |
possibly damaging
Transcript: ENSMUST00000223689
AA Change: E733G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225139
|
| Meta Mutation Damage Score |
0.0961 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (50/51) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
A |
T |
19: 55,266,601 (GRCm39) |
K86* |
probably null |
Het |
| Ambp |
C |
A |
4: 63,072,169 (GRCm39) |
|
probably benign |
Het |
| Atp6v0d2 |
A |
T |
4: 19,887,324 (GRCm39) |
M208K |
probably damaging |
Het |
| Brinp1 |
C |
G |
4: 68,680,427 (GRCm39) |
R701P |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,060,008 (GRCm39) |
D580G |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,049,543 (GRCm39) |
L401H |
probably damaging |
Het |
| Ccdc93 |
C |
A |
1: 121,418,895 (GRCm39) |
D483E |
probably damaging |
Het |
| Cd38 |
T |
C |
5: 44,063,555 (GRCm39) |
L216P |
probably damaging |
Het |
| Cdr1 |
C |
T |
X: 60,228,087 (GRCm39) |
D360N |
possibly damaging |
Het |
| Cibar2 |
C |
T |
8: 120,904,138 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
T |
2: 180,255,955 (GRCm39) |
D443Y |
probably damaging |
Het |
| Cpt1b |
C |
T |
15: 89,309,005 (GRCm39) |
V66I |
probably benign |
Het |
| Cyp8b1 |
T |
A |
9: 121,744,564 (GRCm39) |
Y256F |
probably benign |
Het |
| Dennd10 |
A |
G |
19: 60,806,081 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,757,385 (GRCm39) |
N48S |
probably benign |
Het |
| Ehd3 |
T |
A |
17: 74,123,396 (GRCm39) |
L133Q |
probably damaging |
Het |
| Eif6 |
C |
A |
2: 155,668,068 (GRCm39) |
R57L |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,800,576 (GRCm39) |
|
probably benign |
Het |
| Fgl1 |
C |
T |
8: 41,650,095 (GRCm39) |
A229T |
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Gdf7 |
A |
T |
12: 8,351,666 (GRCm39) |
S90T |
unknown |
Het |
| Ggta1 |
T |
C |
2: 35,303,329 (GRCm39) |
|
probably benign |
Het |
| Gm44859 |
C |
T |
19: 12,014,112 (GRCm39) |
|
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,972 (GRCm39) |
E838G |
possibly damaging |
Het |
| Grin2c |
A |
G |
11: 115,141,543 (GRCm39) |
|
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,565,411 (GRCm39) |
T966A |
probably benign |
Het |
| Gtpbp1 |
A |
G |
15: 79,601,186 (GRCm39) |
I468M |
possibly damaging |
Het |
| Gucy1b2 |
G |
A |
14: 62,645,143 (GRCm39) |
P639S |
probably benign |
Het |
| Hat1 |
T |
C |
2: 71,250,700 (GRCm39) |
|
probably null |
Het |
| Hira |
A |
T |
16: 18,744,404 (GRCm39) |
I374F |
probably benign |
Het |
| Htt |
C |
A |
5: 35,034,826 (GRCm39) |
Q2024K |
probably benign |
Het |
| Kcnj6 |
A |
G |
16: 94,633,778 (GRCm39) |
M111T |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,456,811 (GRCm39) |
|
probably benign |
Het |
| Lrif1 |
T |
A |
3: 106,642,752 (GRCm39) |
M619K |
probably benign |
Het |
| Lrrc8b |
G |
A |
5: 105,629,211 (GRCm39) |
G519D |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,979,692 (GRCm39) |
|
probably benign |
Het |
| Or2ah1 |
T |
C |
2: 85,653,933 (GRCm39) |
I206T |
probably benign |
Het |
| Or4d6 |
T |
A |
19: 12,086,248 (GRCm39) |
I221F |
possibly damaging |
Het |
| P2ry12 |
T |
C |
3: 59,125,302 (GRCm39) |
I124M |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,822,182 (GRCm39) |
|
probably benign |
Het |
| Polb |
A |
T |
8: 23,121,474 (GRCm39) |
I257N |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,295,875 (GRCm39) |
V190E |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,362,318 (GRCm39) |
N54K |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,377,989 (GRCm39) |
W90R |
possibly damaging |
Het |
| Snrpb2 |
A |
T |
2: 142,906,487 (GRCm39) |
M1L |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,876,057 (GRCm39) |
Y493H |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,841,548 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
G |
T |
17: 51,273,652 (GRCm39) |
H123Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,445 (GRCm39) |
N17826S |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 89,006,593 (GRCm39) |
I143T |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,338,029 (GRCm39) |
Y268C |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,464,599 (GRCm39) |
V1586M |
probably damaging |
Het |
| Zfp146 |
C |
T |
7: 29,861,983 (GRCm39) |
V20I |
probably benign |
Het |
| Zfp263 |
G |
A |
16: 3,564,740 (GRCm39) |
E252K |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTACTTTAGATGAACCATGGCC -3'
(R):5'- AAAACAGCTGGCATAATGGC -3'
Sequencing Primer
(F):5'- AGATGAACCATGGCCTTCTG -3'
(R):5'- GCATAATGGCCAGTGTAATCAGTAC -3'
|
| Posted On |
2016-06-08 |
Incidental Mutation