Incidental Mutation 'R2203:Ccdc66'
| ID |
238858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc66
|
| Ensembl Gene |
ENSMUSG00000046753 |
| Gene Name |
coiled-coil domain containing 66 |
| Synonyms |
E230015L20Rik |
| MMRRC Submission |
040205-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R2203 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
27203047-27230417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27208790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 488
(D488V)
|
| 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 |
probably benign
Transcript: ENSMUST00000050480
AA Change: D488V
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753
AA Change: D488V
| 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 benign
Transcript: ENSMUST00000223689
AA Change: D644V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225139
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,090,291 (GRCm39) |
T386I |
probably damaging |
Het |
| Abcc5 |
C |
G |
16: 20,224,632 (GRCm39) |
L44F |
possibly damaging |
Het |
| Abi3bp |
T |
G |
16: 56,433,566 (GRCm39) |
L550R |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,462,967 (GRCm39) |
D910E |
possibly damaging |
Het |
| Cacna1h |
C |
T |
17: 25,599,234 (GRCm39) |
A1742T |
probably damaging |
Het |
| Cartpt |
A |
T |
13: 100,037,133 (GRCm39) |
S4T |
probably benign |
Het |
| Cdan1 |
C |
A |
2: 120,551,241 (GRCm39) |
C1093F |
probably damaging |
Het |
| Cfap45 |
T |
C |
1: 172,359,728 (GRCm39) |
V76A |
probably benign |
Het |
| Clptm1 |
G |
T |
7: 19,367,817 (GRCm39) |
F598L |
possibly damaging |
Het |
| Cntrl |
G |
A |
2: 35,033,749 (GRCm39) |
V257I |
possibly damaging |
Het |
| Cpa1 |
A |
G |
6: 30,641,818 (GRCm39) |
D214G |
probably damaging |
Het |
| Crebbp |
A |
C |
16: 3,956,641 (GRCm39) |
M394R |
possibly damaging |
Het |
| Ctnnd1 |
A |
G |
2: 84,447,024 (GRCm39) |
L407P |
probably damaging |
Het |
| Cttnbp2 |
T |
G |
6: 18,408,693 (GRCm39) |
D976A |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,697,297 (GRCm39) |
V87M |
possibly damaging |
Het |
| Elapor1 |
C |
T |
3: 108,382,359 (GRCm39) |
G270E |
probably damaging |
Het |
| Fam184a |
T |
A |
10: 53,528,530 (GRCm39) |
Q29L |
probably damaging |
Het |
| Flnc |
C |
T |
6: 29,459,507 (GRCm39) |
P2536S |
probably damaging |
Het |
| Gapdh |
A |
T |
6: 125,139,569 (GRCm39) |
S165T |
probably benign |
Het |
| Gm6370 |
T |
A |
5: 146,430,539 (GRCm39) |
D241E |
probably benign |
Het |
| Grik4 |
T |
A |
9: 42,458,951 (GRCm39) |
S596C |
probably damaging |
Het |
| Gtf2e1 |
T |
A |
16: 37,331,904 (GRCm39) |
E390D |
possibly damaging |
Het |
| Hmgcr |
A |
G |
13: 96,793,141 (GRCm39) |
L497P |
probably damaging |
Het |
| Hmgcs2 |
T |
A |
3: 98,198,499 (GRCm39) |
I134N |
probably damaging |
Het |
| Htr5b |
T |
C |
1: 121,455,693 (GRCm39) |
T76A |
probably damaging |
Het |
| Iars1 |
A |
G |
13: 49,876,151 (GRCm39) |
E812G |
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,225,712 (GRCm39) |
M615K |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,075,242 (GRCm39) |
|
probably null |
Het |
| Kcnj5 |
T |
C |
9: 32,234,196 (GRCm39) |
T40A |
probably benign |
Het |
| Knstrn |
T |
A |
2: 118,661,456 (GRCm39) |
|
probably null |
Het |
| Map2k2 |
T |
C |
10: 80,955,213 (GRCm39) |
S14P |
probably damaging |
Het |
| Med26 |
T |
C |
8: 73,249,746 (GRCm39) |
E451G |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,323,165 (GRCm39) |
M2081K |
probably benign |
Het |
| Nectin4 |
G |
A |
1: 171,213,797 (GRCm39) |
V433M |
possibly damaging |
Het |
| Nop56 |
T |
A |
2: 130,119,488 (GRCm39) |
I51N |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Nudt5 |
A |
T |
2: 5,860,794 (GRCm39) |
I22F |
possibly damaging |
Het |
| Or4p23 |
C |
G |
2: 88,576,953 (GRCm39) |
G93A |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,754,406 (GRCm39) |
D142G |
possibly damaging |
Het |
| Pdcl |
A |
T |
2: 37,242,056 (GRCm39) |
N231K |
probably benign |
Het |
| Pkd1 |
G |
T |
17: 24,799,863 (GRCm39) |
A591S |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,844,514 (GRCm39) |
I144T |
probably benign |
Het |
| Prrc2b |
C |
A |
2: 32,113,476 (GRCm39) |
Q1970K |
probably damaging |
Het |
| Rabep1 |
A |
C |
11: 70,825,400 (GRCm39) |
E689A |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,659,585 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Saxo1 |
A |
C |
4: 86,363,998 (GRCm39) |
Y162D |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,366 (GRCm39) |
W324R |
probably damaging |
Het |
| Slc19a1 |
T |
C |
10: 76,877,758 (GRCm39) |
C98R |
possibly damaging |
Het |
| Slc26a8 |
G |
T |
17: 28,866,981 (GRCm39) |
L583I |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,879,435 (GRCm39) |
C34R |
possibly damaging |
Het |
| Stoml2 |
G |
T |
4: 43,030,243 (GRCm39) |
Y119* |
probably null |
Het |
| Susd1 |
A |
G |
4: 59,349,843 (GRCm39) |
L531P |
possibly damaging |
Het |
| Tnfsf14 |
T |
C |
17: 57,497,638 (GRCm39) |
D198G |
possibly damaging |
Het |
| Ttc39a |
A |
G |
4: 109,288,785 (GRCm39) |
N293S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,601,985 (GRCm39) |
N18559S |
possibly damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,083 (GRCm39) |
N729K |
probably benign |
Het |
| Zbtb47 |
A |
G |
9: 121,591,703 (GRCm39) |
T8A |
possibly damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,048 (GRCm39) |
T160S |
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 |
|
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 |
|
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'- TGGCTGATGCAGGAACATAC -3'
(R):5'- CCCAAAGAAATAGATGCTACTGTG -3'
Sequencing Primer
(F):5'- GCTGATGCAGGAACATACTTTTTGAG -3'
(R):5'- TGCTACTGTGAGTCATTAAATAACTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation