Incidental Mutation 'R1753:Cep290'
ID |
193763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep290
|
Ensembl Gene |
ENSMUSG00000019971 |
Gene Name |
centrosomal protein 290 |
Synonyms |
Kiaa, Nphp6, b2b1752Clo, b2b1454Clo |
MMRRC Submission |
039785-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.951)
|
Stock # |
R1753 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
100323410-100409527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100349843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 630
(V630A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164751]
[ENSMUST00000219765]
[ENSMUST00000220346]
|
AlphaFold |
Q6A078 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164751
AA Change: V630A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130899 Gene: ENSMUSG00000019971 AA Change: V630A
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 |
probably benign
Transcript: ENSMUST00000219765
AA Change: V623A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220331
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220346
AA Change: V630A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
Validation Efficiency |
|
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: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
T |
11: 109,864,542 (GRCm39) |
F409I |
probably benign |
Het |
Adamts19 |
A |
C |
18: 59,140,444 (GRCm39) |
I848L |
possibly damaging |
Het |
Adamts5 |
T |
C |
16: 85,696,240 (GRCm39) |
S306G |
probably damaging |
Het |
Adamts8 |
T |
G |
9: 30,865,910 (GRCm39) |
I486S |
probably benign |
Het |
Adgrg5 |
T |
C |
8: 95,668,680 (GRCm39) |
F499L |
possibly damaging |
Het |
Akr1c21 |
T |
A |
13: 4,627,134 (GRCm39) |
C145* |
probably null |
Het |
Anp32b |
T |
G |
4: 46,460,241 (GRCm39) |
|
probably null |
Het |
Arhgap31 |
A |
G |
16: 38,421,974 (GRCm39) |
V1364A |
possibly damaging |
Het |
C2cd6 |
T |
C |
1: 59,133,992 (GRCm39) |
R10G |
possibly damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,507,352 (GRCm39) |
E367G |
possibly damaging |
Het |
Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
Cd2 |
A |
T |
3: 101,194,815 (GRCm39) |
M91K |
possibly damaging |
Het |
Cdc16 |
C |
A |
8: 13,814,688 (GRCm39) |
Y157* |
probably null |
Het |
Celsr3 |
G |
T |
9: 108,709,056 (GRCm39) |
V1301F |
probably damaging |
Het |
Cep164 |
C |
T |
9: 45,704,235 (GRCm39) |
G961S |
probably damaging |
Het |
Chd5 |
C |
T |
4: 152,463,272 (GRCm39) |
S1451F |
probably damaging |
Het |
Cldn23 |
A |
C |
8: 36,293,140 (GRCm39) |
L116R |
possibly damaging |
Het |
Cngb1 |
A |
T |
8: 96,024,401 (GRCm39) |
|
probably benign |
Het |
Cpb1 |
G |
T |
3: 20,320,405 (GRCm39) |
N151K |
possibly damaging |
Het |
Cpn2 |
A |
G |
16: 30,078,918 (GRCm39) |
F261S |
probably damaging |
Het |
Crlf3 |
A |
C |
11: 79,948,698 (GRCm39) |
V249G |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,207,134 (GRCm39) |
Y1298* |
probably null |
Het |
Cstf2t |
C |
A |
19: 31,061,085 (GRCm39) |
P207Q |
possibly damaging |
Het |
Cym |
A |
C |
3: 107,120,741 (GRCm39) |
L288R |
possibly damaging |
Het |
Cyp2j12 |
C |
T |
4: 96,009,669 (GRCm39) |
|
probably null |
Het |
Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
Dnmt3a |
A |
T |
12: 3,923,342 (GRCm39) |
M181L |
possibly damaging |
Het |
Duox1 |
T |
A |
2: 122,163,910 (GRCm39) |
M859K |
probably damaging |
Het |
Eif2b4 |
A |
T |
5: 31,350,284 (GRCm39) |
S13T |
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,298,956 (GRCm39) |
V1448A |
probably benign |
Het |
Esp24 |
A |
G |
17: 39,350,893 (GRCm39) |
E31G |
possibly damaging |
Het |
F2rl2 |
T |
A |
13: 95,837,969 (GRCm39) |
M338K |
probably benign |
Het |
Fbxl9 |
A |
T |
8: 106,039,824 (GRCm39) |
V517E |
probably damaging |
Het |
Fgfbp1 |
A |
C |
5: 44,137,265 (GRCm39) |
L9R |
possibly damaging |
Het |
Gal3st2b |
A |
T |
1: 93,868,338 (GRCm39) |
N188Y |
probably damaging |
Het |
Gpr179 |
G |
C |
11: 97,237,404 (GRCm39) |
C372W |
probably damaging |
Het |
Grn |
T |
G |
11: 102,324,093 (GRCm39) |
C61G |
probably damaging |
Het |
Herc1 |
T |
G |
9: 66,376,292 (GRCm39) |
C3371G |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,409,366 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
Ifi35 |
A |
T |
11: 101,347,461 (GRCm39) |
R31W |
probably damaging |
Het |
Ifit1bl1 |
T |
A |
19: 34,571,260 (GRCm39) |
H399L |
probably benign |
Het |
Irx3 |
G |
A |
8: 92,527,362 (GRCm39) |
P114L |
probably damaging |
Het |
Kat6a |
T |
A |
8: 23,425,813 (GRCm39) |
D1119E |
probably benign |
Het |
Kmt2d |
G |
T |
15: 98,741,363 (GRCm39) |
|
probably benign |
Het |
Kng1 |
A |
T |
16: 22,897,869 (GRCm39) |
H423L |
possibly damaging |
Het |
Lrp2 |
T |
A |
2: 69,326,833 (GRCm39) |
Q1746L |
possibly damaging |
Het |
Lrrc63 |
A |
T |
14: 75,323,784 (GRCm39) |
|
probably null |
Het |
Mad2l1 |
T |
A |
6: 66,516,797 (GRCm39) |
V163E |
possibly damaging |
Het |
Map3k19 |
A |
G |
1: 127,750,417 (GRCm39) |
M978T |
probably benign |
Het |
Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
Mpo |
A |
G |
11: 87,686,707 (GRCm39) |
N85D |
probably benign |
Het |
Mpp4 |
T |
C |
1: 59,183,969 (GRCm39) |
D244G |
probably null |
Het |
Mstn |
A |
G |
1: 53,105,717 (GRCm39) |
Y353C |
probably damaging |
Het |
Mx1 |
T |
A |
16: 97,255,358 (GRCm39) |
N232Y |
probably damaging |
Het |
Mycs |
T |
C |
X: 5,380,157 (GRCm39) |
R308G |
probably benign |
Het |
Myh11 |
A |
T |
16: 14,095,734 (GRCm39) |
D9E |
probably benign |
Het |
Nfe2l3 |
A |
T |
6: 51,410,392 (GRCm39) |
Q169L |
probably null |
Het |
Nr5a1 |
G |
T |
2: 38,598,431 (GRCm39) |
T122N |
possibly damaging |
Het |
Nras |
A |
G |
3: 102,966,295 (GRCm39) |
T20A |
probably damaging |
Het |
Obp2b |
T |
A |
2: 25,628,652 (GRCm39) |
|
probably null |
Het |
Or1l4 |
A |
G |
2: 37,091,439 (GRCm39) |
Y62C |
probably damaging |
Het |
Or51g2 |
T |
C |
7: 102,622,263 (GRCm39) |
N312S |
probably benign |
Het |
Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
Or5w18 |
T |
A |
2: 87,633,106 (GRCm39) |
F124L |
probably benign |
Het |
Or9s14 |
G |
A |
1: 92,536,122 (GRCm39) |
V188M |
probably benign |
Het |
Pcdh17 |
A |
T |
14: 84,715,094 (GRCm39) |
T920S |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 94,124,661 (GRCm39) |
D503G |
probably benign |
Het |
Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
Pde6b |
C |
A |
5: 108,536,557 (GRCm39) |
C84* |
probably null |
Het |
Pex1 |
A |
T |
5: 3,680,044 (GRCm39) |
N914I |
probably damaging |
Het |
Pign |
A |
G |
1: 105,517,042 (GRCm39) |
V528A |
possibly damaging |
Het |
Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,173,112 (GRCm39) |
K489E |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
Radil |
T |
C |
5: 142,481,091 (GRCm39) |
Y572C |
probably damaging |
Het |
Rapgef2 |
A |
G |
3: 78,996,098 (GRCm39) |
I555T |
possibly damaging |
Het |
Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
Rnaset2b |
G |
A |
17: 7,248,506 (GRCm39) |
|
probably null |
Het |
S1pr1 |
A |
G |
3: 115,505,587 (GRCm39) |
S336P |
probably benign |
Het |
Slc24a5 |
A |
G |
2: 124,925,115 (GRCm39) |
E252G |
possibly damaging |
Het |
Slc34a2 |
A |
T |
5: 53,218,733 (GRCm39) |
I184F |
probably benign |
Het |
Slc35a3 |
A |
G |
3: 116,471,597 (GRCm39) |
V224A |
possibly damaging |
Het |
Slc39a9 |
A |
G |
12: 80,723,976 (GRCm39) |
H211R |
probably damaging |
Het |
Slu7 |
A |
G |
11: 43,330,095 (GRCm39) |
N174S |
probably benign |
Het |
Smarcd3 |
A |
T |
5: 24,800,820 (GRCm39) |
Y131* |
probably null |
Het |
Syne1 |
A |
G |
10: 5,317,621 (GRCm39) |
M491T |
probably benign |
Het |
Tars1 |
G |
A |
15: 11,394,329 (GRCm39) |
Q103* |
probably null |
Het |
Tmem132d |
C |
A |
5: 127,866,919 (GRCm39) |
E660D |
probably benign |
Het |
Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,582,605 (GRCm39) |
M22763L |
probably benign |
Het |
Ubp1 |
A |
T |
9: 113,785,037 (GRCm39) |
I117L |
possibly damaging |
Het |
Usp24 |
T |
A |
4: 106,234,756 (GRCm39) |
H954Q |
probably benign |
Het |
Vmn1r174 |
G |
A |
7: 23,453,622 (GRCm39) |
R96H |
probably benign |
Het |
Vmn2r63 |
G |
A |
7: 42,577,669 (GRCm39) |
Q290* |
probably null |
Het |
Vnn3 |
T |
C |
10: 23,741,718 (GRCm39) |
I341T |
probably benign |
Het |
Wbp2nl |
A |
G |
15: 82,189,945 (GRCm39) |
T46A |
probably damaging |
Het |
Wdr48 |
G |
T |
9: 119,753,313 (GRCm39) |
E625* |
probably null |
Het |
Wdr6 |
C |
T |
9: 108,452,363 (GRCm39) |
V507I |
probably damaging |
Het |
Zp2 |
A |
T |
7: 119,737,328 (GRCm39) |
W287R |
probably benign |
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 |
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 |
R1991:Cep290
|
UTSW |
10 |
100,367,046 (GRCm39) |
missense |
possibly damaging |
0.80 |
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'- TGGTGGGCTAAACTTGAATCAGTAAAGC -3'
(R):5'- GTTAACCAGTCTTTCAAGACTCGGGATG -3'
Sequencing Primer
(F):5'- GCATTGTTTTAACTTGAAACCTGC -3'
(R):5'- cagatagatataGCATAGCTTTGACC -3'
|
Posted On |
2014-05-23 |