Incidental Mutation 'R1991:Cep290'
ID |
225184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep290
|
Ensembl Gene |
ENSMUSG00000019971 |
Gene Name |
centrosomal protein 290 |
Synonyms |
Kiaa, Nphp6, b2b1752Clo, b2b1454Clo |
MMRRC Submission |
040002-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.951)
|
Stock # |
R1991 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
100323410-100409527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100367046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 1132
(S1132R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164751]
[ENSMUST00000219765]
[ENSMUST00000220346]
|
AlphaFold |
Q6A078 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164751
AA Change: S1132R
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130899 Gene: ENSMUSG00000019971 AA Change: S1132R
Domain | Start | End | E-Value | Type |
coiled coil region
|
59 |
298 |
N/A |
INTRINSIC |
coiled coil region
|
319 |
566 |
N/A |
INTRINSIC |
coiled coil region
|
598 |
662 |
N/A |
INTRINSIC |
coiled coil region
|
697 |
754 |
N/A |
INTRINSIC |
coiled coil region
|
780 |
875 |
N/A |
INTRINSIC |
internal_repeat_2
|
884 |
894 |
1.1e-5 |
PROSPERO |
coiled coil region
|
986 |
1028 |
N/A |
INTRINSIC |
internal_repeat_2
|
1057 |
1067 |
1.1e-5 |
PROSPERO |
coiled coil region
|
1071 |
1109 |
N/A |
INTRINSIC |
low complexity region
|
1140 |
1156 |
N/A |
INTRINSIC |
internal_repeat_1
|
1176 |
1206 |
8.72e-8 |
PROSPERO |
coiled coil region
|
1221 |
1250 |
N/A |
INTRINSIC |
Pfam:CEP209_CC5
|
1290 |
1417 |
3.8e-55 |
PFAM |
low complexity region
|
1476 |
1493 |
N/A |
INTRINSIC |
internal_repeat_1
|
1498 |
1525 |
8.72e-8 |
PROSPERO |
coiled coil region
|
1535 |
1595 |
N/A |
INTRINSIC |
coiled coil region
|
1624 |
1716 |
N/A |
INTRINSIC |
coiled coil region
|
1776 |
2328 |
N/A |
INTRINSIC |
low complexity region
|
2333 |
2347 |
N/A |
INTRINSIC |
coiled coil region
|
2377 |
2453 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219765
AA Change: S1125R
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220346
AA Change: S1132R
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.0745 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (124/124) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008] PHENOTYPE: Mutant mice display mislocalization of ciliary and phototransduction proteins resulting in early-onset retinal degeneration. Heterotaxy with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), left bronchial isomerism, and hypoplastic spleen is also seen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 123 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,771,419 (GRCm39) |
R203* |
probably null |
Het |
Abcc2 |
A |
T |
19: 43,795,581 (GRCm39) |
I446F |
probably damaging |
Het |
Afap1l2 |
A |
T |
19: 56,990,699 (GRCm39) |
I18N |
possibly damaging |
Het |
Aida |
A |
T |
1: 183,094,627 (GRCm39) |
E107D |
probably benign |
Het |
Amer2 |
A |
G |
14: 60,617,269 (GRCm39) |
Y362C |
probably damaging |
Het |
Amigo1 |
T |
C |
3: 108,094,644 (GRCm39) |
S48P |
probably benign |
Het |
Ano5 |
A |
G |
7: 51,187,561 (GRCm39) |
K50R |
possibly damaging |
Het |
Anxa2 |
A |
T |
9: 69,391,098 (GRCm39) |
D95V |
probably damaging |
Het |
Arhgap22 |
A |
G |
14: 33,088,916 (GRCm39) |
N466D |
probably damaging |
Het |
Armc3 |
T |
C |
2: 19,297,953 (GRCm39) |
Y575H |
probably damaging |
Het |
Ascc2 |
A |
G |
11: 4,629,257 (GRCm39) |
E523G |
probably benign |
Het |
B3galt5 |
A |
T |
16: 96,117,225 (GRCm39) |
K286M |
probably damaging |
Het |
Bag3 |
C |
T |
7: 128,147,407 (GRCm39) |
H341Y |
probably benign |
Het |
Blm |
G |
T |
7: 80,155,697 (GRCm39) |
|
probably null |
Het |
Cacna1b |
G |
A |
2: 24,622,318 (GRCm39) |
P222L |
probably damaging |
Het |
Cap2 |
T |
A |
13: 46,791,357 (GRCm39) |
Y175N |
possibly damaging |
Het |
Cd81 |
G |
T |
7: 142,620,938 (GRCm39) |
G206* |
probably null |
Het |
Cluh |
C |
A |
11: 74,550,355 (GRCm39) |
C222* |
probably null |
Het |
Col14a1 |
A |
T |
15: 55,313,336 (GRCm39) |
D1320V |
unknown |
Het |
Col18a1 |
T |
C |
10: 76,916,988 (GRCm39) |
I114V |
unknown |
Het |
Cped1 |
A |
G |
6: 22,233,926 (GRCm39) |
T847A |
probably damaging |
Het |
Cpne7 |
A |
G |
8: 123,854,176 (GRCm39) |
K288E |
possibly damaging |
Het |
Cr2 |
G |
A |
1: 194,836,458 (GRCm39) |
P1278S |
possibly damaging |
Het |
Creb3 |
C |
A |
4: 43,565,327 (GRCm39) |
R202S |
probably damaging |
Het |
Cyp2j9 |
T |
A |
4: 96,460,201 (GRCm39) |
K434M |
probably damaging |
Het |
Dnai3 |
G |
T |
3: 145,769,235 (GRCm39) |
T522K |
possibly damaging |
Het |
Dpp10 |
A |
T |
1: 123,832,833 (GRCm39) |
V48E |
probably null |
Het |
Dsg2 |
A |
G |
18: 20,734,530 (GRCm39) |
K836R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,229,339 (GRCm39) |
T1986A |
probably benign |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Ecm2 |
A |
G |
13: 49,683,732 (GRCm39) |
D570G |
probably benign |
Het |
Efhc1 |
T |
A |
1: 21,059,784 (GRCm39) |
C611* |
probably null |
Het |
Epop |
T |
C |
11: 97,519,480 (GRCm39) |
T210A |
probably benign |
Het |
Erc2 |
A |
G |
14: 27,733,593 (GRCm39) |
I556V |
probably benign |
Het |
Fdxacb1 |
A |
T |
9: 50,682,946 (GRCm39) |
N101I |
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,709,473 (GRCm39) |
S294G |
possibly damaging |
Het |
Galnt16 |
A |
G |
12: 80,630,430 (GRCm39) |
D262G |
probably damaging |
Het |
Gorab |
A |
G |
1: 163,224,625 (GRCm39) |
S59P |
probably damaging |
Het |
Gpr161 |
G |
T |
1: 165,134,132 (GRCm39) |
M131I |
probably damaging |
Het |
Gpr22 |
T |
A |
12: 31,759,202 (GRCm39) |
M270L |
probably benign |
Het |
Grin3b |
C |
A |
10: 79,806,746 (GRCm39) |
Q5K |
probably benign |
Het |
Grin3b |
C |
T |
10: 79,810,480 (GRCm39) |
A662V |
probably damaging |
Het |
Gsdmc |
A |
G |
15: 63,673,748 (GRCm39) |
I179T |
probably benign |
Het |
Gsdmc2 |
T |
A |
15: 63,700,086 (GRCm39) |
M229L |
probably benign |
Het |
H2-Eb2 |
A |
G |
17: 34,553,278 (GRCm39) |
I155V |
probably benign |
Het |
Hoga1 |
A |
C |
19: 42,048,459 (GRCm39) |
|
probably null |
Het |
Hs3st5 |
A |
G |
10: 36,708,882 (GRCm39) |
Y139C |
probably damaging |
Het |
Il10ra |
C |
A |
9: 45,167,109 (GRCm39) |
A481S |
probably benign |
Het |
Ints2 |
T |
A |
11: 86,139,760 (GRCm39) |
H278L |
possibly damaging |
Het |
Kalrn |
T |
G |
16: 33,796,108 (GRCm39) |
L1222F |
probably damaging |
Het |
Klhl25 |
T |
A |
7: 75,516,480 (GRCm39) |
V157D |
probably damaging |
Het |
Klk1b26 |
A |
T |
7: 43,666,324 (GRCm39) |
T256S |
probably damaging |
Het |
Krt81 |
T |
C |
15: 101,360,435 (GRCm39) |
Q184R |
probably benign |
Het |
Lce1k |
A |
T |
3: 92,714,125 (GRCm39) |
C20S |
unknown |
Het |
Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
Lin54 |
A |
G |
5: 100,633,660 (GRCm39) |
|
probably null |
Het |
Lrrc37a |
T |
C |
11: 103,391,087 (GRCm39) |
E1446G |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,350,488 (GRCm39) |
S3792P |
probably damaging |
Het |
Manba |
T |
A |
3: 135,256,952 (GRCm39) |
D538E |
probably benign |
Het |
Mcc |
C |
A |
18: 44,624,382 (GRCm39) |
E213* |
probably null |
Het |
Mfap4 |
T |
C |
11: 61,376,633 (GRCm39) |
|
probably null |
Het |
Muc21 |
A |
T |
17: 35,929,600 (GRCm39) |
S1529T |
probably benign |
Het |
Nebl |
T |
A |
2: 17,457,321 (GRCm39) |
I80F |
probably damaging |
Het |
Nek4 |
A |
G |
14: 30,678,910 (GRCm39) |
I145V |
probably damaging |
Het |
Nlrp14 |
T |
C |
7: 106,795,407 (GRCm39) |
V230A |
probably benign |
Het |
Nxf3 |
G |
A |
X: 134,976,583 (GRCm39) |
P380S |
possibly damaging |
Het |
Or11h6 |
G |
A |
14: 50,880,323 (GRCm39) |
C195Y |
possibly damaging |
Het |
Or1a1 |
T |
C |
11: 74,086,989 (GRCm39) |
V220A |
probably damaging |
Het |
Or5b99 |
T |
C |
19: 12,976,866 (GRCm39) |
V172A |
possibly damaging |
Het |
Or5p66 |
C |
A |
7: 107,885,566 (GRCm39) |
G256* |
probably null |
Het |
Or6k8-ps1 |
C |
T |
1: 173,979,687 (GRCm39) |
H202Y |
probably damaging |
Het |
Pcdhb13 |
C |
T |
18: 37,576,912 (GRCm39) |
T430I |
possibly damaging |
Het |
Piezo2 |
A |
T |
18: 63,207,733 (GRCm39) |
L1426Q |
probably null |
Het |
Pigk |
T |
A |
3: 152,450,131 (GRCm39) |
Y212N |
probably damaging |
Het |
Pigm |
T |
G |
1: 172,204,828 (GRCm39) |
L188R |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,766,368 (GRCm39) |
F2117S |
probably damaging |
Het |
Plec |
A |
G |
15: 76,057,743 (GRCm39) |
F4055L |
probably damaging |
Het |
Plk5 |
C |
T |
10: 80,198,936 (GRCm39) |
S435L |
possibly damaging |
Het |
Pms1 |
G |
A |
1: 53,321,201 (GRCm39) |
L11F |
probably damaging |
Het |
Prl3b1 |
C |
T |
13: 27,431,895 (GRCm39) |
T140I |
possibly damaging |
Het |
Prl7a1 |
T |
G |
13: 27,817,655 (GRCm39) |
D203A |
probably damaging |
Het |
Psg17 |
A |
G |
7: 18,548,577 (GRCm39) |
V398A |
probably benign |
Het |
Pum1 |
T |
A |
4: 130,445,529 (GRCm39) |
I166K |
possibly damaging |
Het |
R3hdm1 |
T |
A |
1: 128,096,753 (GRCm39) |
D108E |
probably damaging |
Het |
Reln |
A |
T |
5: 22,174,358 (GRCm39) |
D1948E |
possibly damaging |
Het |
Rnf112 |
C |
T |
11: 61,343,252 (GRCm39) |
R141Q |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,452,293 (GRCm39) |
V424A |
possibly damaging |
Het |
Serpina3m |
C |
A |
12: 104,355,958 (GRCm39) |
Y208* |
probably null |
Het |
Serpind1 |
T |
C |
16: 17,160,808 (GRCm39) |
V446A |
probably benign |
Het |
Shc3 |
T |
A |
13: 51,596,872 (GRCm39) |
M384L |
probably benign |
Het |
Slc38a11 |
A |
G |
2: 65,160,683 (GRCm39) |
F304L |
probably benign |
Het |
Slpi |
C |
T |
2: 164,197,463 (GRCm39) |
C28Y |
probably damaging |
Het |
Specc1 |
C |
A |
11: 61,920,120 (GRCm39) |
P7T |
possibly damaging |
Het |
Spib |
T |
C |
7: 44,178,281 (GRCm39) |
E180G |
probably benign |
Het |
Spint5 |
T |
C |
2: 164,558,903 (GRCm39) |
|
probably benign |
Het |
Ssr2 |
T |
A |
3: 88,484,174 (GRCm39) |
|
probably benign |
Het |
Tbrg1 |
T |
C |
9: 37,560,715 (GRCm39) |
D387G |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,440,296 (GRCm39) |
L1367R |
probably damaging |
Het |
Tfpi |
A |
C |
2: 84,288,360 (GRCm39) |
|
probably benign |
Het |
Tlr5 |
T |
A |
1: 182,801,912 (GRCm39) |
D405E |
probably damaging |
Het |
Tnnt3 |
C |
T |
7: 142,065,262 (GRCm39) |
R131C |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,890,878 (GRCm39) |
V407A |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,901,225 (GRCm39) |
Y1013C |
probably damaging |
Het |
Tpx2 |
T |
A |
2: 152,732,544 (GRCm39) |
M606K |
probably benign |
Het |
Trim30a |
T |
A |
7: 104,079,437 (GRCm39) |
|
probably benign |
Het |
Trim46 |
A |
T |
3: 89,145,008 (GRCm39) |
Y489N |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,773,648 (GRCm39) |
H380L |
probably benign |
Het |
Tstd2 |
A |
G |
4: 46,120,563 (GRCm39) |
I279T |
probably benign |
Het |
Ttn |
C |
T |
2: 76,776,735 (GRCm39) |
|
probably null |
Het |
Txnl1 |
T |
C |
18: 63,812,585 (GRCm39) |
T70A |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,310,729 (GRCm39) |
|
probably benign |
Het |
Usp1 |
A |
G |
4: 98,822,531 (GRCm39) |
D615G |
probably benign |
Het |
Virma |
T |
A |
4: 11,519,242 (GRCm39) |
C830S |
probably benign |
Het |
Vmn1r7 |
A |
T |
6: 57,001,853 (GRCm39) |
S136T |
probably benign |
Het |
Vmn2r9 |
A |
G |
5: 108,994,305 (GRCm39) |
V448A |
probably damaging |
Het |
Vps11 |
G |
A |
9: 44,270,524 (GRCm39) |
H183Y |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,116,892 (GRCm39) |
T476A |
possibly damaging |
Het |
Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
Wnt8a |
A |
G |
18: 34,677,937 (GRCm39) |
D115G |
probably damaging |
Het |
Xndc1 |
T |
A |
7: 101,722,398 (GRCm39) |
V21E |
probably damaging |
Het |
Zc3hav1 |
C |
A |
6: 38,313,452 (GRCm39) |
V198L |
probably damaging |
Het |
Zfp874a |
T |
A |
13: 67,590,623 (GRCm39) |
I354F |
probably benign |
Het |
Zfr2 |
A |
T |
10: 81,078,686 (GRCm39) |
D306V |
possibly damaging |
Het |
|
Other mutations in Cep290 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00430:Cep290
|
APN |
10 |
100,344,586 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00499:Cep290
|
APN |
10 |
100,379,189 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00547:Cep290
|
APN |
10 |
100,346,570 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00573:Cep290
|
APN |
10 |
100,376,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00646:Cep290
|
APN |
10 |
100,337,016 (GRCm39) |
missense |
probably benign |
0.15 |
IGL00755:Cep290
|
APN |
10 |
100,366,966 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00835:Cep290
|
APN |
10 |
100,399,242 (GRCm39) |
nonsense |
probably null |
|
IGL00846:Cep290
|
APN |
10 |
100,376,195 (GRCm39) |
splice site |
probably benign |
|
IGL00985:Cep290
|
APN |
10 |
100,403,023 (GRCm39) |
splice site |
probably benign |
|
IGL01687:Cep290
|
APN |
10 |
100,336,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01782:Cep290
|
APN |
10 |
100,380,987 (GRCm39) |
nonsense |
probably null |
|
IGL02010:Cep290
|
APN |
10 |
100,397,207 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02010:Cep290
|
APN |
10 |
100,344,569 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02036:Cep290
|
APN |
10 |
100,393,962 (GRCm39) |
nonsense |
probably null |
|
IGL02039:Cep290
|
APN |
10 |
100,350,464 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02532:Cep290
|
APN |
10 |
100,380,927 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02950:Cep290
|
APN |
10 |
100,376,191 (GRCm39) |
splice site |
probably benign |
|
IGL03105:Cep290
|
APN |
10 |
100,387,686 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03179:Cep290
|
APN |
10 |
100,403,950 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL03271:Cep290
|
APN |
10 |
100,373,663 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03401:Cep290
|
APN |
10 |
100,336,127 (GRCm39) |
missense |
probably benign |
0.27 |
PIT4687001:Cep290
|
UTSW |
10 |
100,373,453 (GRCm39) |
missense |
probably benign |
0.28 |
R0025:Cep290
|
UTSW |
10 |
100,373,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Cep290
|
UTSW |
10 |
100,372,787 (GRCm39) |
splice site |
probably benign |
|
R0254:Cep290
|
UTSW |
10 |
100,350,436 (GRCm39) |
missense |
probably benign |
0.31 |
R0295:Cep290
|
UTSW |
10 |
100,373,683 (GRCm39) |
missense |
probably damaging |
0.99 |
R0371:Cep290
|
UTSW |
10 |
100,354,426 (GRCm39) |
splice site |
probably benign |
|
R0390:Cep290
|
UTSW |
10 |
100,344,620 (GRCm39) |
missense |
probably benign |
0.09 |
R0399:Cep290
|
UTSW |
10 |
100,390,262 (GRCm39) |
splice site |
probably benign |
|
R0413:Cep290
|
UTSW |
10 |
100,359,176 (GRCm39) |
nonsense |
probably null |
|
R0427:Cep290
|
UTSW |
10 |
100,352,041 (GRCm39) |
missense |
probably benign |
0.01 |
R0472:Cep290
|
UTSW |
10 |
100,387,317 (GRCm39) |
missense |
probably benign |
0.19 |
R0485:Cep290
|
UTSW |
10 |
100,385,206 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0635:Cep290
|
UTSW |
10 |
100,328,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R0675:Cep290
|
UTSW |
10 |
100,404,675 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0972:Cep290
|
UTSW |
10 |
100,354,624 (GRCm39) |
missense |
probably benign |
0.08 |
R1238:Cep290
|
UTSW |
10 |
100,353,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1297:Cep290
|
UTSW |
10 |
100,374,962 (GRCm39) |
splice site |
probably benign |
|
R1368:Cep290
|
UTSW |
10 |
100,330,828 (GRCm39) |
splice site |
probably benign |
|
R1394:Cep290
|
UTSW |
10 |
100,373,391 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1437:Cep290
|
UTSW |
10 |
100,407,963 (GRCm39) |
missense |
probably benign |
0.00 |
R1493:Cep290
|
UTSW |
10 |
100,398,043 (GRCm39) |
missense |
probably benign |
0.21 |
R1496:Cep290
|
UTSW |
10 |
100,374,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R1539:Cep290
|
UTSW |
10 |
100,332,690 (GRCm39) |
missense |
probably benign |
0.06 |
R1598:Cep290
|
UTSW |
10 |
100,385,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R1616:Cep290
|
UTSW |
10 |
100,404,698 (GRCm39) |
missense |
probably benign |
|
R1712:Cep290
|
UTSW |
10 |
100,390,361 (GRCm39) |
missense |
probably benign |
0.02 |
R1753:Cep290
|
UTSW |
10 |
100,349,843 (GRCm39) |
missense |
probably benign |
|
R1773:Cep290
|
UTSW |
10 |
100,346,435 (GRCm39) |
missense |
probably benign |
|
R1775:Cep290
|
UTSW |
10 |
100,332,672 (GRCm39) |
missense |
probably damaging |
0.98 |
R1799:Cep290
|
UTSW |
10 |
100,352,058 (GRCm39) |
missense |
probably benign |
0.00 |
R1937:Cep290
|
UTSW |
10 |
100,333,815 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2031:Cep290
|
UTSW |
10 |
100,348,262 (GRCm39) |
critical splice donor site |
probably null |
|
R2164:Cep290
|
UTSW |
10 |
100,354,657 (GRCm39) |
missense |
probably damaging |
0.96 |
R2393:Cep290
|
UTSW |
10 |
100,397,100 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2403:Cep290
|
UTSW |
10 |
100,373,299 (GRCm39) |
missense |
probably benign |
0.19 |
R3612:Cep290
|
UTSW |
10 |
100,377,443 (GRCm39) |
nonsense |
probably null |
|
R3800:Cep290
|
UTSW |
10 |
100,408,803 (GRCm39) |
missense |
probably damaging |
0.97 |
R4005:Cep290
|
UTSW |
10 |
100,374,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R4039:Cep290
|
UTSW |
10 |
100,348,263 (GRCm39) |
critical splice donor site |
probably null |
|
R4259:Cep290
|
UTSW |
10 |
100,350,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Cep290
|
UTSW |
10 |
100,350,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R4319:Cep290
|
UTSW |
10 |
100,374,909 (GRCm39) |
missense |
probably benign |
0.09 |
R4329:Cep290
|
UTSW |
10 |
100,373,530 (GRCm39) |
missense |
probably damaging |
0.98 |
R4573:Cep290
|
UTSW |
10 |
100,354,712 (GRCm39) |
missense |
probably benign |
|
R4614:Cep290
|
UTSW |
10 |
100,395,549 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4614:Cep290
|
UTSW |
10 |
100,344,602 (GRCm39) |
missense |
probably benign |
|
R4708:Cep290
|
UTSW |
10 |
100,359,126 (GRCm39) |
missense |
probably benign |
0.02 |
R4727:Cep290
|
UTSW |
10 |
100,399,132 (GRCm39) |
missense |
probably benign |
0.05 |
R4825:Cep290
|
UTSW |
10 |
100,324,210 (GRCm39) |
missense |
probably damaging |
0.96 |
R4839:Cep290
|
UTSW |
10 |
100,344,648 (GRCm39) |
missense |
probably damaging |
0.99 |
R4858:Cep290
|
UTSW |
10 |
100,330,773 (GRCm39) |
missense |
probably benign |
0.31 |
R4871:Cep290
|
UTSW |
10 |
100,384,776 (GRCm39) |
missense |
probably benign |
0.22 |
R5094:Cep290
|
UTSW |
10 |
100,402,892 (GRCm39) |
missense |
probably damaging |
0.97 |
R5103:Cep290
|
UTSW |
10 |
100,374,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R5499:Cep290
|
UTSW |
10 |
100,373,515 (GRCm39) |
missense |
probably damaging |
0.99 |
R5505:Cep290
|
UTSW |
10 |
100,335,048 (GRCm39) |
critical splice donor site |
probably null |
|
R5615:Cep290
|
UTSW |
10 |
100,367,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R5815:Cep290
|
UTSW |
10 |
100,393,970 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5883:Cep290
|
UTSW |
10 |
100,359,261 (GRCm39) |
missense |
probably benign |
0.44 |
R5889:Cep290
|
UTSW |
10 |
100,334,936 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5928:Cep290
|
UTSW |
10 |
100,387,692 (GRCm39) |
missense |
probably damaging |
0.99 |
R5992:Cep290
|
UTSW |
10 |
100,379,183 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6000:Cep290
|
UTSW |
10 |
100,377,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R6213:Cep290
|
UTSW |
10 |
100,359,222 (GRCm39) |
missense |
probably benign |
0.06 |
R6274:Cep290
|
UTSW |
10 |
100,366,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R6285:Cep290
|
UTSW |
10 |
100,359,191 (GRCm39) |
missense |
probably benign |
0.17 |
R6306:Cep290
|
UTSW |
10 |
100,367,028 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6593:Cep290
|
UTSW |
10 |
100,344,638 (GRCm39) |
missense |
probably benign |
0.01 |
R6649:Cep290
|
UTSW |
10 |
100,354,393 (GRCm39) |
missense |
probably benign |
0.28 |
R6692:Cep290
|
UTSW |
10 |
100,405,006 (GRCm39) |
splice site |
probably null |
|
R6788:Cep290
|
UTSW |
10 |
100,324,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R6847:Cep290
|
UTSW |
10 |
100,399,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R6947:Cep290
|
UTSW |
10 |
100,365,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R7035:Cep290
|
UTSW |
10 |
100,334,933 (GRCm39) |
missense |
probably benign |
0.07 |
R7073:Cep290
|
UTSW |
10 |
100,374,865 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7114:Cep290
|
UTSW |
10 |
100,379,220 (GRCm39) |
missense |
probably damaging |
0.98 |
R7256:Cep290
|
UTSW |
10 |
100,382,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R7258:Cep290
|
UTSW |
10 |
100,334,970 (GRCm39) |
missense |
probably benign |
0.01 |
R7311:Cep290
|
UTSW |
10 |
100,373,580 (GRCm39) |
missense |
probably damaging |
0.98 |
R7505:Cep290
|
UTSW |
10 |
100,352,127 (GRCm39) |
missense |
probably benign |
0.01 |
R7615:Cep290
|
UTSW |
10 |
100,328,543 (GRCm39) |
missense |
probably benign |
0.03 |
R7643:Cep290
|
UTSW |
10 |
100,373,415 (GRCm39) |
missense |
probably benign |
|
R7662:Cep290
|
UTSW |
10 |
100,373,665 (GRCm39) |
missense |
probably benign |
0.21 |
R7663:Cep290
|
UTSW |
10 |
100,390,398 (GRCm39) |
critical splice donor site |
probably null |
|
R7685:Cep290
|
UTSW |
10 |
100,375,919 (GRCm39) |
missense |
probably benign |
0.19 |
R7699:Cep290
|
UTSW |
10 |
100,376,231 (GRCm39) |
missense |
probably benign |
0.33 |
R7717:Cep290
|
UTSW |
10 |
100,328,543 (GRCm39) |
missense |
probably benign |
0.03 |
R7747:Cep290
|
UTSW |
10 |
100,394,038 (GRCm39) |
nonsense |
probably null |
|
R7757:Cep290
|
UTSW |
10 |
100,399,296 (GRCm39) |
missense |
probably benign |
|
R7843:Cep290
|
UTSW |
10 |
100,352,050 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7905:Cep290
|
UTSW |
10 |
100,390,352 (GRCm39) |
missense |
probably benign |
|
R8078:Cep290
|
UTSW |
10 |
100,408,749 (GRCm39) |
missense |
probably benign |
0.04 |
R8081:Cep290
|
UTSW |
10 |
100,394,038 (GRCm39) |
nonsense |
probably null |
|
R8094:Cep290
|
UTSW |
10 |
100,380,793 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8266:Cep290
|
UTSW |
10 |
100,395,533 (GRCm39) |
missense |
probably benign |
0.08 |
R8305:Cep290
|
UTSW |
10 |
100,380,796 (GRCm39) |
missense |
probably benign |
0.09 |
R8325:Cep290
|
UTSW |
10 |
100,353,670 (GRCm39) |
missense |
probably benign |
0.03 |
R8372:Cep290
|
UTSW |
10 |
100,385,203 (GRCm39) |
missense |
probably benign |
0.00 |
R8443:Cep290
|
UTSW |
10 |
100,331,706 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8497:Cep290
|
UTSW |
10 |
100,387,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R8778:Cep290
|
UTSW |
10 |
100,350,374 (GRCm39) |
nonsense |
probably null |
|
R8975:Cep290
|
UTSW |
10 |
100,349,782 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9146:Cep290
|
UTSW |
10 |
100,377,665 (GRCm39) |
missense |
probably benign |
0.44 |
R9264:Cep290
|
UTSW |
10 |
100,333,878 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9374:Cep290
|
UTSW |
10 |
100,372,729 (GRCm39) |
missense |
probably damaging |
0.98 |
R9448:Cep290
|
UTSW |
10 |
100,395,546 (GRCm39) |
missense |
probably benign |
0.32 |
R9499:Cep290
|
UTSW |
10 |
100,372,729 (GRCm39) |
missense |
probably damaging |
0.98 |
R9507:Cep290
|
UTSW |
10 |
100,330,785 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9539:Cep290
|
UTSW |
10 |
100,404,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R9547:Cep290
|
UTSW |
10 |
100,380,841 (GRCm39) |
missense |
probably benign |
0.00 |
R9551:Cep290
|
UTSW |
10 |
100,372,729 (GRCm39) |
missense |
probably damaging |
0.98 |
R9657:Cep290
|
UTSW |
10 |
100,351,003 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9731:Cep290
|
UTSW |
10 |
100,346,404 (GRCm39) |
missense |
probably damaging |
0.98 |
R9756:Cep290
|
UTSW |
10 |
100,352,034 (GRCm39) |
missense |
probably damaging |
0.97 |
R9777:Cep290
|
UTSW |
10 |
100,354,529 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Cep290
|
UTSW |
10 |
100,385,236 (GRCm39) |
critical splice donor site |
probably benign |
|
Z1177:Cep290
|
UTSW |
10 |
100,374,859 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1177:Cep290
|
UTSW |
10 |
100,333,806 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTTTAGTTGACGCAGGTCCTG -3'
(R):5'- AGGCACAGCTCTACACTCAG -3'
Sequencing Primer
(F):5'- CAGGTCCTGGCTGTTCTCAG -3'
(R):5'- GCAAACTGTGTAATGTTATTTCCTC -3'
|
Posted On |
2014-08-25 |