Incidental Mutation 'R0390:Cep290'
| ID |
31621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep290
|
| Ensembl Gene |
ENSMUSG00000019971 |
| Gene Name |
centrosomal protein 290 |
| Synonyms |
Kiaa, Nphp6, b2b1752Clo, b2b1454Clo |
| MMRRC Submission |
038596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R0390 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
100323410-100409527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100344620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 479
(E479G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164751]
[ENSMUST00000219765]
[ENSMUST00000220346]
|
| AlphaFold |
Q6A078 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164751
AA Change: E486G
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
AA Change: E486G
| 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: E479G
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220331
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220346
AA Change: E486G
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.1255 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.0%
|
| Validation Efficiency |
98% (110/112) |
| 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: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
C |
T |
8: 25,164,070 (GRCm39) |
G38R |
probably benign |
Het |
| Ap2m1 |
T |
C |
16: 20,359,849 (GRCm39) |
M183T |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,038,678 (GRCm39) |
I364F |
probably damaging |
Het |
| Arl6 |
A |
T |
16: 59,442,784 (GRCm39) |
|
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,751,614 (GRCm39) |
M15V |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,112,302 (GRCm39) |
F131S |
probably damaging |
Het |
| Ccdc74a |
A |
G |
16: 17,468,340 (GRCm39) |
S321G |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,358,006 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,418,789 (GRCm39) |
|
probably benign |
Het |
| Chrm2 |
T |
G |
6: 36,501,046 (GRCm39) |
I301R |
probably benign |
Het |
| Clec2e |
A |
G |
6: 129,070,431 (GRCm39) |
W197R |
probably damaging |
Het |
| Cnot10 |
G |
T |
9: 114,458,218 (GRCm39) |
S96* |
probably null |
Het |
| Col19a1 |
A |
G |
1: 24,328,736 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,027,466 (GRCm39) |
|
probably benign |
Het |
| Cthrc1 |
A |
T |
15: 38,950,159 (GRCm39) |
*172L |
probably null |
Het |
| Cul9 |
A |
T |
17: 46,839,515 (GRCm39) |
I821N |
probably benign |
Het |
| Daam1 |
G |
C |
12: 72,022,078 (GRCm39) |
|
probably benign |
Het |
| Dhx58 |
A |
T |
11: 100,590,090 (GRCm39) |
I398N |
probably damaging |
Het |
| Dip2b |
T |
A |
15: 100,091,794 (GRCm39) |
H844Q |
probably damaging |
Het |
| Dmac2 |
A |
G |
7: 25,320,454 (GRCm39) |
D50G |
probably damaging |
Het |
| Dmxl1 |
C |
A |
18: 50,012,429 (GRCm39) |
Q1529K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,730,558 (GRCm39) |
P315L |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,524,317 (GRCm39) |
S1382P |
unknown |
Het |
| Fat2 |
A |
T |
11: 55,201,603 (GRCm39) |
N490K |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,107,662 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 34,980,806 (GRCm39) |
|
probably benign |
Het |
| Grin2a |
C |
A |
16: 9,397,449 (GRCm39) |
K879N |
possibly damaging |
Het |
| Hacd3 |
A |
C |
9: 64,908,304 (GRCm39) |
I164S |
possibly damaging |
Het |
| Hinfp |
A |
C |
9: 44,210,245 (GRCm39) |
C197G |
probably damaging |
Het |
| Hsd17b12 |
T |
C |
2: 93,945,335 (GRCm39) |
|
probably benign |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,355 (GRCm39) |
L212Q |
probably damaging |
Het |
| Ifrd1 |
C |
T |
12: 40,264,093 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
A |
G |
16: 21,900,551 (GRCm39) |
F129L |
possibly damaging |
Het |
| Kirrel3 |
T |
A |
9: 34,931,459 (GRCm39) |
I409N |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,447,411 (GRCm39) |
I204T |
probably damaging |
Het |
| Kpna6 |
A |
T |
4: 129,551,597 (GRCm39) |
S65R |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,540,620 (GRCm39) |
D308V |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,143 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lyzl1 |
A |
T |
18: 4,169,175 (GRCm39) |
T11S |
probably benign |
Het |
| Man1c1 |
A |
G |
4: 134,305,626 (GRCm39) |
L366P |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,901,472 (GRCm39) |
M100T |
probably damaging |
Het |
| Mettl13 |
G |
A |
1: 162,366,458 (GRCm39) |
H474Y |
possibly damaging |
Het |
| Minar2 |
T |
A |
18: 59,208,760 (GRCm39) |
V136E |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,451,320 (GRCm39) |
D352G |
probably benign |
Het |
| Mns1 |
T |
C |
9: 72,360,086 (GRCm39) |
I412T |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,842,926 (GRCm39) |
D1501G |
probably null |
Het |
| Mylk |
G |
T |
16: 34,695,990 (GRCm39) |
G242W |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,377,704 (GRCm39) |
D1715G |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,362,310 (GRCm39) |
S2P |
probably damaging |
Het |
| Nek3 |
A |
T |
8: 22,618,745 (GRCm39) |
|
probably benign |
Het |
| Nfrkb |
A |
G |
9: 31,300,193 (GRCm39) |
|
probably benign |
Het |
| Nlrp4d |
T |
C |
7: 10,122,705 (GRCm39) |
D53G |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,815,628 (GRCm39) |
S561P |
probably damaging |
Het |
| Nuf2 |
A |
C |
1: 169,352,866 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
T |
A |
9: 21,903,004 (GRCm39) |
H442L |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,168,789 (GRCm39) |
D866V |
possibly damaging |
Het |
| Optn |
A |
G |
2: 5,051,006 (GRCm39) |
L125P |
probably benign |
Het |
| Or5k3 |
A |
G |
16: 58,969,662 (GRCm39) |
I150V |
probably benign |
Het |
| Otoa |
T |
A |
7: 120,730,564 (GRCm39) |
F588Y |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,269,850 (GRCm39) |
|
probably null |
Het |
| Pde5a |
T |
G |
3: 122,629,232 (GRCm39) |
C635W |
probably damaging |
Het |
| Pdgfb |
A |
T |
15: 79,887,620 (GRCm39) |
|
probably null |
Het |
| Pih1d2 |
T |
A |
9: 50,532,346 (GRCm39) |
C135S |
probably damaging |
Het |
| Plcg1 |
G |
T |
2: 160,594,286 (GRCm39) |
C361F |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,567,619 (GRCm39) |
|
probably benign |
Het |
| Pramel26 |
T |
A |
4: 143,538,269 (GRCm39) |
D234V |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,260,564 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
A |
1: 11,159,930 (GRCm39) |
|
probably null |
Het |
| Prss56 |
T |
G |
1: 87,112,452 (GRCm39) |
|
probably null |
Het |
| Prtg |
A |
G |
9: 72,752,240 (GRCm39) |
K209E |
probably benign |
Het |
| Ptprc |
G |
A |
1: 138,050,313 (GRCm39) |
T36I |
possibly damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,845,285 (GRCm39) |
Y302C |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,858 (GRCm39) |
M759K |
probably damaging |
Het |
| Rbm15b |
T |
A |
9: 106,763,197 (GRCm39) |
M324L |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,415,987 (GRCm39) |
V500A |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,180,451 (GRCm39) |
K434R |
probably damaging |
Het |
| Rims1 |
C |
T |
1: 22,635,607 (GRCm39) |
A125T |
possibly damaging |
Het |
| Robo3 |
A |
G |
9: 37,333,473 (GRCm39) |
V746A |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,557,820 (GRCm39) |
E1340K |
unknown |
Het |
| Sacs |
G |
A |
14: 61,443,089 (GRCm39) |
D1712N |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,103,402 (GRCm39) |
P19S |
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,956,151 (GRCm39) |
Y347C |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,500,410 (GRCm39) |
I393N |
probably damaging |
Het |
| Sigmar1 |
C |
T |
4: 41,741,243 (GRCm39) |
A4T |
probably benign |
Het |
| Skint9 |
C |
A |
4: 112,246,376 (GRCm39) |
L245F |
probably benign |
Het |
| Slc35f5 |
T |
C |
1: 125,512,832 (GRCm39) |
L372P |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,950,478 (GRCm39) |
I1182N |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,785,138 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
T |
C |
13: 53,491,648 (GRCm39) |
D417G |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,225,216 (GRCm39) |
N31S |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,964,738 (GRCm39) |
D811G |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,418,442 (GRCm38) |
T1221A |
probably benign |
Het |
| Tph2 |
T |
C |
10: 115,010,014 (GRCm39) |
D182G |
probably damaging |
Het |
| Traf6 |
C |
T |
2: 101,518,933 (GRCm39) |
Q141* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,587,275 (GRCm39) |
D21574G |
probably damaging |
Het |
| Uba2 |
T |
A |
7: 33,850,446 (GRCm39) |
N367I |
probably benign |
Het |
| Ube2b |
T |
C |
11: 51,879,429 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
T |
15: 38,030,916 (GRCm39) |
L426I |
probably benign |
Het |
| Ugt2a2 |
T |
A |
5: 87,612,007 (GRCm39) |
H301L |
probably benign |
Het |
| Upf2 |
T |
A |
2: 6,023,705 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
C |
10: 12,585,804 (GRCm39) |
D991G |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,800,140 (GRCm39) |
D734G |
probably damaging |
Het |
| Vmn2r68 |
C |
G |
7: 84,882,466 (GRCm39) |
|
probably null |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,457 (GRCm39) |
|
probably benign |
Het |
| Vwf |
T |
A |
6: 125,603,324 (GRCm39) |
Y891* |
probably null |
Het |
| Wwox |
C |
T |
8: 115,433,018 (GRCm39) |
T228I |
probably benign |
Het |
| Zer1 |
C |
T |
2: 29,998,225 (GRCm39) |
|
probably benign |
Het |
| Zfp180 |
C |
T |
7: 23,804,132 (GRCm39) |
H184Y |
possibly damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,487 (GRCm39) |
Y279N |
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 |
|
|
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 |
|
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'- TCACATTGCCTTTGGGCCAGATG -3'
(R):5'- ACTGGGTCGATGAAAGCCATGTTC -3'
Sequencing Primer
(F):5'- GGTATAGGTAAGTTAACCCATCACC -3'
(R):5'- ACTTTGCTTGAGGATTAGGACCAC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation