Incidental Mutation 'R5322:Ccdc66'
| ID |
404923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc66
|
| Ensembl Gene |
ENSMUSG00000046753 |
| Gene Name |
coiled-coil domain containing 66 |
| Synonyms |
E230015L20Rik |
| MMRRC Submission |
042905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R5322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
27203047-27230417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27204484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 933
(S933P)
|
| 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: S777P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753
AA Change: S777P
| 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: S933P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225139
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
T |
5: 89,855,159 (GRCm39) |
|
probably null |
Het |
| Ankar |
T |
C |
1: 72,729,545 (GRCm39) |
|
probably null |
Het |
| Ankrd60 |
T |
A |
2: 173,410,610 (GRCm39) |
K303N |
possibly damaging |
Het |
| Appbp2 |
A |
G |
11: 85,086,890 (GRCm39) |
|
probably null |
Het |
| Arvcf |
T |
C |
16: 18,215,508 (GRCm39) |
M176T |
probably benign |
Het |
| Cachd1 |
T |
C |
4: 100,809,319 (GRCm39) |
I268T |
probably damaging |
Het |
| Cfi |
C |
T |
3: 129,666,689 (GRCm39) |
P471S |
probably damaging |
Het |
| Ckmt2 |
G |
T |
13: 92,009,891 (GRCm39) |
T143K |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,085,078 (GRCm39) |
D15E |
probably damaging |
Het |
| Copb2 |
A |
T |
9: 98,468,029 (GRCm39) |
K680N |
probably benign |
Het |
| D2hgdh |
T |
C |
1: 93,757,620 (GRCm39) |
|
probably null |
Het |
| Dcn |
A |
T |
10: 97,353,464 (GRCm39) |
T338S |
probably benign |
Het |
| Dipk2a |
A |
G |
9: 94,402,615 (GRCm39) |
I349T |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,850,630 (GRCm39) |
G1644D |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,384,390 (GRCm39) |
I3045V |
probably benign |
Het |
| Dock3 |
G |
A |
9: 106,779,028 (GRCm39) |
T307I |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,007,715 (GRCm39) |
I1498N |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,081,557 (GRCm39) |
N62Y |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,521,950 (GRCm39) |
H295N |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,541 (GRCm39) |
Y129C |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,172,387 (GRCm39) |
D2139E |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,550,304 (GRCm39) |
V140E |
probably damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,571 (GRCm39) |
F495I |
probably damaging |
Het |
| Gm43302 |
C |
T |
5: 105,365,347 (GRCm39) |
A554T |
probably benign |
Het |
| Gpr157 |
A |
G |
4: 150,183,309 (GRCm39) |
N160D |
probably benign |
Het |
| Il1rn |
G |
A |
2: 24,238,641 (GRCm39) |
|
probably null |
Het |
| Kctd13 |
T |
A |
7: 126,528,378 (GRCm39) |
L51Q |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,516,722 (GRCm39) |
F1561L |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,190,608 (GRCm39) |
|
probably null |
Het |
| Mib1 |
A |
G |
18: 10,792,975 (GRCm39) |
H637R |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,120,151 (GRCm39) |
N93I |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,423,119 (GRCm39) |
|
probably null |
Het |
| Myot |
T |
C |
18: 44,487,216 (GRCm39) |
F351S |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,947,800 (GRCm39) |
N143K |
possibly damaging |
Het |
| Or10ac1 |
T |
C |
6: 42,515,950 (GRCm39) |
D2G |
probably benign |
Het |
| Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
| Or51b6b |
T |
C |
7: 103,309,879 (GRCm39) |
I193V |
possibly damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,319 (GRCm39) |
W173R |
probably benign |
Het |
| Or52n2 |
C |
T |
7: 104,542,371 (GRCm39) |
V155I |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,502 (GRCm39) |
I213L |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,898,223 (GRCm39) |
R134* |
probably null |
Het |
| Paxbp1 |
T |
C |
16: 90,812,050 (GRCm39) |
I887V |
probably benign |
Het |
| Pi4kb |
G |
A |
3: 94,901,560 (GRCm39) |
R436Q |
probably benign |
Het |
| Pla2g3 |
A |
G |
11: 3,438,686 (GRCm39) |
E112G |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,322 (GRCm39) |
|
probably null |
Het |
| Rela |
T |
A |
19: 5,695,408 (GRCm39) |
S311R |
possibly damaging |
Het |
| Sidt1 |
T |
A |
16: 44,101,985 (GRCm39) |
|
probably benign |
Het |
| Smco2 |
T |
C |
6: 146,772,785 (GRCm39) |
L329P |
probably damaging |
Het |
| Speer4f1 |
A |
T |
5: 17,682,347 (GRCm39) |
I77F |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,402,298 (GRCm39) |
I462V |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,724,306 (GRCm39) |
R385W |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,781,034 (GRCm39) |
V2974A |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,652,476 (GRCm39) |
T31I |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,616,481 (GRCm39) |
N247S |
probably benign |
Het |
| Zeb2 |
A |
C |
2: 44,887,107 (GRCm39) |
M582R |
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 |
|
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 |
|
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'- CTGTTAGCAGGTCAGGAATCTCC -3'
(R):5'- TGTTCTAGCTAGACAACACCC -3'
Sequencing Primer
(F):5'- CCAGATTCTACCCTGGTAAGTAG -3'
(R):5'- AACAATTCTATCCTGAGAGTTCAATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation