Incidental Mutation 'R1799:Cep290'
| ID |
202949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep290
|
| Ensembl Gene |
ENSMUSG00000019971 |
| Gene Name |
centrosomal protein 290 |
| Synonyms |
Kiaa, Nphp6, b2b1752Clo, b2b1454Clo |
| MMRRC Submission |
039829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R1799 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
100323410-100409527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100352058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 755
(A755T)
|
| 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: A755T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
AA Change: A755T
| 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: A748T
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: A755T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
| 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 |
|---|
| A930011G23Rik |
A |
G |
5: 99,382,435 (GRCm39) |
L271P |
probably benign |
Het |
| Adamts3 |
A |
C |
5: 89,923,280 (GRCm39) |
D175E |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,008,929 (GRCm39) |
T833A |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,750,958 (GRCm39) |
I508F |
probably damaging |
Het |
| Arhgap9 |
G |
T |
10: 127,163,593 (GRCm39) |
V464L |
probably damaging |
Het |
| Atp10a |
T |
A |
7: 58,474,182 (GRCm39) |
D1156E |
probably damaging |
Het |
| Atp2a1 |
A |
T |
7: 126,049,314 (GRCm39) |
M576K |
probably benign |
Het |
| Atrx |
T |
C |
X: 104,891,235 (GRCm39) |
Q1536R |
probably damaging |
Het |
| Ccdc141 |
A |
C |
2: 76,842,015 (GRCm39) |
V1472G |
possibly damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,916,886 (GRCm39) |
N362K |
probably damaging |
Het |
| Cfap70 |
T |
A |
14: 20,445,067 (GRCm39) |
E1071V |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,248,801 (GRCm39) |
V1176A |
probably damaging |
Het |
| Csf2rb2 |
A |
C |
15: 78,181,268 (GRCm39) |
N41K |
probably damaging |
Het |
| Csn1s2a |
G |
A |
5: 87,926,052 (GRCm39) |
V43M |
probably damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,561,254 (GRCm39) |
D136G |
probably benign |
Het |
| Cyp7b1 |
A |
G |
3: 18,151,616 (GRCm39) |
L199P |
probably benign |
Het |
| Dapk1 |
C |
T |
13: 60,867,468 (GRCm39) |
T225I |
probably damaging |
Het |
| Dio2 |
T |
A |
12: 90,696,680 (GRCm39) |
T103S |
probably benign |
Het |
| Dipk1a |
C |
A |
5: 108,057,713 (GRCm39) |
V237F |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,304,974 (GRCm39) |
S339T |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,523,841 (GRCm39) |
N737D |
probably damaging |
Het |
| Efhc1 |
C |
T |
1: 21,049,762 (GRCm39) |
P541S |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,134,077 (GRCm39) |
I637N |
probably damaging |
Het |
| Eps15 |
T |
A |
4: 109,240,034 (GRCm39) |
D492E |
probably damaging |
Het |
| Ermn |
G |
T |
2: 57,938,249 (GRCm39) |
N121K |
probably benign |
Het |
| F5 |
A |
G |
1: 164,021,100 (GRCm39) |
T1192A |
possibly damaging |
Het |
| Fbxo22 |
T |
C |
9: 55,130,771 (GRCm39) |
F347L |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Foxj3 |
A |
G |
4: 119,476,548 (GRCm39) |
N242S |
probably benign |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,691,914 (GRCm39) |
V235A |
probably damaging |
Het |
| Gstm4 |
T |
C |
3: 107,950,874 (GRCm39) |
N74S |
probably damaging |
Het |
| Gtf3c3 |
A |
G |
1: 54,459,583 (GRCm39) |
V393A |
possibly damaging |
Het |
| Hltf |
T |
A |
3: 20,159,855 (GRCm39) |
L702H |
probably damaging |
Het |
| Inpp4a |
T |
A |
1: 37,432,059 (GRCm39) |
V153E |
possibly damaging |
Het |
| Kmt5c |
T |
C |
7: 4,745,729 (GRCm39) |
|
probably null |
Het |
| Kynu |
A |
G |
2: 43,494,169 (GRCm39) |
R201G |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,333,874 (GRCm39) |
T1456S |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,742,441 (GRCm39) |
V19I |
probably benign |
Het |
| M1ap |
T |
A |
6: 82,982,491 (GRCm39) |
C258* |
probably null |
Het |
| Man2a1 |
T |
C |
17: 65,059,452 (GRCm39) |
L1113P |
probably benign |
Het |
| Man2a1 |
C |
T |
17: 64,976,492 (GRCm39) |
R427W |
probably damaging |
Het |
| Meikin |
C |
A |
11: 54,308,613 (GRCm39) |
Q404K |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 131,981,334 (GRCm39) |
I222V |
possibly damaging |
Het |
| N4bp2 |
A |
G |
5: 65,964,168 (GRCm39) |
N739S |
possibly damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,232,517 (GRCm39) |
|
probably null |
Het |
| Nisch |
G |
T |
14: 30,899,228 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,920,447 (GRCm39) |
V266A |
probably damaging |
Het |
| Npcd |
G |
A |
15: 79,712,987 (GRCm39) |
R147C |
probably damaging |
Het |
| Or4q3 |
T |
A |
14: 50,583,537 (GRCm39) |
M121L |
probably benign |
Het |
| Or5ac25 |
T |
A |
16: 59,182,243 (GRCm39) |
I113F |
probably benign |
Het |
| Pals2 |
T |
A |
6: 50,173,525 (GRCm39) |
M463K |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,885,589 (GRCm39) |
H1556L |
unknown |
Het |
| Pcdh9 |
G |
T |
14: 94,126,107 (GRCm39) |
A21E |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,903,958 (GRCm39) |
E436G |
probably benign |
Het |
| Piezo2 |
C |
A |
18: 63,165,911 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
T |
C |
18: 63,241,158 (GRCm39) |
Y690C |
probably damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,141,549 (GRCm39) |
R183G |
possibly damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,971,018 (GRCm39) |
D250G |
probably damaging |
Het |
| Ppig |
A |
G |
2: 69,579,744 (GRCm39) |
D426G |
unknown |
Het |
| Ppp3cb |
T |
C |
14: 20,574,540 (GRCm39) |
E185G |
possibly damaging |
Het |
| Qsox1 |
A |
T |
1: 155,670,364 (GRCm39) |
M151K |
probably null |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,648 (GRCm39) |
E1453G |
probably benign |
Het |
| Rnf167 |
G |
A |
11: 70,540,838 (GRCm39) |
V191I |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,419,055 (GRCm39) |
K686E |
possibly damaging |
Het |
| Ryr1 |
T |
G |
7: 28,767,046 (GRCm39) |
Q2979P |
probably damaging |
Het |
| Scaf1 |
T |
A |
7: 44,657,443 (GRCm39) |
I479F |
probably damaging |
Het |
| Septin8 |
A |
G |
11: 53,425,310 (GRCm39) |
T68A |
probably benign |
Het |
| Sh3rf1 |
A |
T |
8: 61,825,661 (GRCm39) |
N552I |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,099,383 (GRCm39) |
V103D |
possibly damaging |
Het |
| Slc1a3 |
A |
G |
15: 8,717,888 (GRCm39) |
L68P |
probably damaging |
Het |
| Slc39a6 |
G |
A |
18: 24,718,524 (GRCm39) |
P511L |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,374,652 (GRCm39) |
Y339C |
probably damaging |
Het |
| Smarcal1 |
G |
T |
1: 72,625,120 (GRCm39) |
C89F |
probably damaging |
Het |
| Smu1 |
A |
T |
4: 40,745,537 (GRCm39) |
M261K |
probably damaging |
Het |
| Spag8 |
T |
G |
4: 43,653,087 (GRCm39) |
|
probably benign |
Het |
| Spag8 |
T |
C |
4: 43,653,345 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,851,216 (GRCm39) |
D304G |
probably benign |
Het |
| Spdl1 |
A |
T |
11: 34,711,856 (GRCm39) |
L298* |
probably null |
Het |
| Stac2 |
C |
T |
11: 97,930,444 (GRCm39) |
|
probably null |
Het |
| Stag1 |
A |
G |
9: 100,835,515 (GRCm39) |
|
probably null |
Het |
| Stpg2 |
C |
T |
3: 139,125,542 (GRCm39) |
P445L |
probably damaging |
Het |
| Sult2a8 |
A |
T |
7: 14,157,451 (GRCm39) |
V128E |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,707 (GRCm39) |
F210L |
probably damaging |
Het |
| Tbck |
C |
G |
3: 132,480,263 (GRCm39) |
A714G |
probably benign |
Het |
| Tcerg1 |
A |
T |
18: 42,694,012 (GRCm39) |
Y711F |
possibly damaging |
Het |
| Tnfrsf25 |
A |
G |
4: 152,201,465 (GRCm39) |
T98A |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 71,998,450 (GRCm39) |
S218P |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,399,515 (GRCm39) |
D84E |
probably benign |
Het |
| Trim30d |
G |
T |
7: 104,132,682 (GRCm39) |
Q202K |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,068,845 (GRCm39) |
V397E |
probably damaging |
Het |
| Triml1 |
A |
T |
8: 43,583,512 (GRCm39) |
I363N |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,869,363 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,823,382 (GRCm39) |
S1055G |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,989,621 (GRCm39) |
D2065G |
probably damaging |
Het |
| Uggt2 |
G |
T |
14: 119,269,688 (GRCm39) |
P948Q |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,851,399 (GRCm39) |
S2345C |
probably damaging |
Het |
| Wtap |
G |
T |
17: 13,199,771 (GRCm39) |
R48S |
possibly damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,570,934 (GRCm39) |
V50A |
probably damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,958,017 (GRCm39) |
S829R |
probably benign |
Het |
| Zfp385b |
T |
C |
2: 77,246,316 (GRCm39) |
D237G |
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 |
|
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 |
|
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'- TCTCGGCTAAACATCCCAGC -3'
(R):5'- CAGTTTACACAGGAAAGGTTAGACG -3'
Sequencing Primer
(F):5'- TCTTTGCACTATAAAAGAGAAAGGG -3'
(R):5'- CAAGTTTACTTGCAAGCTTTTCTTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation