Incidental Mutation 'R1991:Cep290'
| ID |
225184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep290
|
| Ensembl Gene |
ENSMUSG00000019971 |
| Gene Name |
centrosomal protein 290 |
| Synonyms |
b2b1454Clo, Nphp6, b2b1752Clo |
| MMRRC Submission |
040002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R1991 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
100487558-100574840 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100531184 bp (GRCm38)
|
| 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: 138,065,658 (GRCm38) |
R203* |
probably null |
Het |
| Abcc2 |
A |
T |
19: 43,807,142 (GRCm38) |
I446F |
probably damaging |
Het |
| Afap1l2 |
A |
T |
19: 57,002,267 (GRCm38) |
I18N |
possibly damaging |
Het |
| Aida |
A |
T |
1: 183,313,692 (GRCm38) |
E107D |
probably benign |
Het |
| Amer2 |
A |
G |
14: 60,379,820 (GRCm38) |
Y362C |
probably damaging |
Het |
| Amigo1 |
T |
C |
3: 108,187,328 (GRCm38) |
S48P |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,537,813 (GRCm38) |
K50R |
possibly damaging |
Het |
| Anxa2 |
A |
T |
9: 69,483,816 (GRCm38) |
D95V |
probably damaging |
Het |
| Arhgap22 |
A |
G |
14: 33,366,959 (GRCm38) |
N466D |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,293,142 (GRCm38) |
Y575H |
probably damaging |
Het |
| Ascc2 |
A |
G |
11: 4,679,257 (GRCm38) |
E523G |
probably benign |
Het |
| B3galt5 |
A |
T |
16: 96,316,025 (GRCm38) |
K286M |
probably damaging |
Het |
| Bag3 |
C |
T |
7: 128,545,683 (GRCm38) |
H341Y |
probably benign |
Het |
| Blm |
G |
T |
7: 80,505,949 (GRCm38) |
|
probably null |
Het |
| Cacna1b |
G |
A |
2: 24,732,306 (GRCm38) |
P222L |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,637,881 (GRCm38) |
Y175N |
possibly damaging |
Het |
| Cd81 |
G |
T |
7: 143,067,201 (GRCm38) |
G206* |
probably null |
Het |
| Cluh |
C |
A |
11: 74,659,529 (GRCm38) |
C222* |
probably null |
Het |
| Col14a1 |
A |
T |
15: 55,449,940 (GRCm38) |
D1320V |
unknown |
Het |
| Col18a1 |
T |
C |
10: 77,081,154 (GRCm38) |
I114V |
unknown |
Het |
| Cped1 |
A |
G |
6: 22,233,927 (GRCm38) |
T847A |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,127,437 (GRCm38) |
K288E |
possibly damaging |
Het |
| Cr2 |
G |
A |
1: 195,154,150 (GRCm38) |
P1278S |
possibly damaging |
Het |
| Creb3 |
C |
A |
4: 43,565,327 (GRCm38) |
R202S |
probably damaging |
Het |
| Cyp2j9 |
T |
A |
4: 96,571,964 (GRCm38) |
K434M |
probably damaging |
Het |
| Dpp10 |
A |
T |
1: 123,905,106 (GRCm38) |
V48E |
probably null |
Het |
| Dsg2 |
A |
G |
18: 20,601,473 (GRCm38) |
K836R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,190,258 (GRCm38) |
T1986A |
probably benign |
Het |
| Dvl1 |
G |
A |
4: 155,847,816 (GRCm38) |
V28I |
possibly damaging |
Het |
| Ecm2 |
A |
G |
13: 49,530,256 (GRCm38) |
D570G |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 20,989,560 (GRCm38) |
C611* |
probably null |
Het |
| Epop |
T |
C |
11: 97,628,654 (GRCm38) |
T210A |
probably benign |
Het |
| Erc2 |
A |
G |
14: 28,011,636 (GRCm38) |
I556V |
probably benign |
Het |
| Fdxacb1 |
A |
T |
9: 50,771,646 (GRCm38) |
N101I |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,982,162 (GRCm38) |
S294G |
possibly damaging |
Het |
| Galnt16 |
A |
G |
12: 80,583,656 (GRCm38) |
D262G |
probably damaging |
Het |
| Gm9573 |
A |
T |
17: 35,618,708 (GRCm38) |
S1529T |
probably benign |
Het |
| Gorab |
A |
G |
1: 163,397,056 (GRCm38) |
S59P |
probably damaging |
Het |
| Gpr161 |
G |
T |
1: 165,306,563 (GRCm38) |
M131I |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,709,203 (GRCm38) |
M270L |
probably benign |
Het |
| Grin3b |
C |
T |
10: 79,974,646 (GRCm38) |
A662V |
probably damaging |
Het |
| Grin3b |
C |
A |
10: 79,970,912 (GRCm38) |
Q5K |
probably benign |
Het |
| Gsdmc |
A |
G |
15: 63,801,899 (GRCm38) |
I179T |
probably benign |
Het |
| Gsdmc2 |
T |
A |
15: 63,828,237 (GRCm38) |
M229L |
probably benign |
Het |
| H2-Eb2 |
A |
G |
17: 34,334,304 (GRCm38) |
I155V |
probably benign |
Het |
| Hoga1 |
A |
C |
19: 42,060,020 (GRCm38) |
|
probably null |
Het |
| Hs3st5 |
A |
G |
10: 36,832,886 (GRCm38) |
Y139C |
probably damaging |
Het |
| Il10ra |
C |
A |
9: 45,255,811 (GRCm38) |
A481S |
probably benign |
Het |
| Ints2 |
T |
A |
11: 86,248,934 (GRCm38) |
H278L |
possibly damaging |
Het |
| Kalrn |
T |
G |
16: 33,975,738 (GRCm38) |
L1222F |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,866,732 (GRCm38) |
V157D |
probably damaging |
Het |
| Klk1b26 |
A |
T |
7: 44,016,900 (GRCm38) |
T256S |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,462,554 (GRCm38) |
Q184R |
probably benign |
Het |
| Lce1k |
A |
T |
3: 92,806,818 (GRCm38) |
C20S |
unknown |
Het |
| Letm1 |
A |
AG |
5: 33,769,515 (GRCm38) |
|
probably null |
Het |
| Lin54 |
A |
G |
5: 100,485,801 (GRCm38) |
|
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,500,261 (GRCm38) |
E1446G |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,456,695 (GRCm38) |
S3792P |
probably damaging |
Het |
| Manba |
T |
A |
3: 135,551,191 (GRCm38) |
D538E |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,491,315 (GRCm38) |
E213* |
probably null |
Het |
| Mfap4 |
T |
C |
11: 61,485,807 (GRCm38) |
|
probably null |
Het |
| Nebl |
T |
A |
2: 17,452,510 (GRCm38) |
I80F |
probably damaging |
Het |
| Nek4 |
A |
G |
14: 30,956,953 (GRCm38) |
I145V |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 107,196,200 (GRCm38) |
V230A |
probably benign |
Het |
| Nxf3 |
G |
A |
X: 136,075,834 (GRCm38) |
P380S |
possibly damaging |
Het |
| Olfr1451 |
T |
C |
19: 12,999,502 (GRCm38) |
V172A |
possibly damaging |
Het |
| Olfr403 |
T |
C |
11: 74,196,163 (GRCm38) |
V220A |
probably damaging |
Het |
| Olfr421-ps1 |
C |
T |
1: 174,152,121 (GRCm38) |
H202Y |
probably damaging |
Het |
| Olfr490 |
C |
A |
7: 108,286,359 (GRCm38) |
G256* |
probably null |
Het |
| Olfr745 |
G |
A |
14: 50,642,866 (GRCm38) |
C195Y |
possibly damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,443,859 (GRCm38) |
T430I |
possibly damaging |
Het |
| Piezo2 |
A |
T |
18: 63,074,662 (GRCm38) |
L1426Q |
probably null |
Het |
| Pigk |
T |
A |
3: 152,744,494 (GRCm38) |
Y212N |
probably damaging |
Het |
| Pigm |
T |
G |
1: 172,377,261 (GRCm38) |
L188R |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,777,924 (GRCm38) |
F2117S |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,173,543 (GRCm38) |
F4055L |
probably damaging |
Het |
| Plk5 |
C |
T |
10: 80,363,102 (GRCm38) |
S435L |
possibly damaging |
Het |
| Pms1 |
G |
A |
1: 53,282,042 (GRCm38) |
L11F |
probably damaging |
Het |
| Prl3b1 |
C |
T |
13: 27,247,912 (GRCm38) |
T140I |
possibly damaging |
Het |
| Prl7a1 |
T |
G |
13: 27,633,672 (GRCm38) |
D203A |
probably damaging |
Het |
| Psg17 |
A |
G |
7: 18,814,652 (GRCm38) |
V398A |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,718,218 (GRCm38) |
I166K |
possibly damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,169,016 (GRCm38) |
D108E |
probably damaging |
Het |
| Reln |
A |
T |
5: 21,969,360 (GRCm38) |
D1948E |
possibly damaging |
Het |
| Rnf112 |
C |
T |
11: 61,452,426 (GRCm38) |
R141Q |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,561,466 (GRCm38) |
V424A |
possibly damaging |
Het |
| Serpina3m |
C |
A |
12: 104,389,699 (GRCm38) |
Y208* |
probably null |
Het |
| Serpind1 |
T |
C |
16: 17,342,944 (GRCm38) |
V446A |
probably benign |
Het |
| Shc3 |
T |
A |
13: 51,442,836 (GRCm38) |
M384L |
probably benign |
Het |
| Slc38a11 |
A |
G |
2: 65,330,339 (GRCm38) |
F304L |
probably benign |
Het |
| Slpi |
C |
T |
2: 164,355,543 (GRCm38) |
C28Y |
probably damaging |
Het |
| Specc1 |
C |
A |
11: 62,029,294 (GRCm38) |
P7T |
possibly damaging |
Het |
| Spib |
T |
C |
7: 44,528,857 (GRCm38) |
E180G |
probably benign |
Het |
| Spint5 |
T |
C |
2: 164,716,983 (GRCm38) |
|
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,576,867 (GRCm38) |
|
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,649,419 (GRCm38) |
D387G |
probably benign |
Het |
| Tex14 |
T |
G |
11: 87,549,470 (GRCm38) |
L1367R |
probably damaging |
Het |
| Tfpi |
A |
C |
2: 84,458,016 (GRCm38) |
|
probably benign |
Het |
| Tlr5 |
T |
A |
1: 182,974,347 (GRCm38) |
D405E |
probably damaging |
Het |
| Tnnt3 |
C |
T |
7: 142,511,525 (GRCm38) |
R131C |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,682,251 (GRCm38) |
Y1013C |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,671,904 (GRCm38) |
V407A |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,890,624 (GRCm38) |
M606K |
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,430,230 (GRCm38) |
|
probably benign |
Het |
| Trim46 |
A |
T |
3: 89,237,701 (GRCm38) |
Y489N |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,796,284 (GRCm38) |
H380L |
probably benign |
Het |
| Tstd2 |
A |
G |
4: 46,120,563 (GRCm38) |
I279T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,946,391 (GRCm38) |
|
probably null |
Het |
| Txnl1 |
T |
C |
18: 63,679,514 (GRCm38) |
T70A |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,578,532 (GRCm38) |
|
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,934,294 (GRCm38) |
D615G |
probably benign |
Het |
| Virma |
T |
A |
4: 11,519,242 (GRCm38) |
C830S |
probably benign |
Het |
| Vmn1r7 |
A |
T |
6: 57,024,868 (GRCm38) |
S136T |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,846,439 (GRCm38) |
V448A |
probably damaging |
Het |
| Vps11 |
G |
A |
9: 44,359,227 (GRCm38) |
H183Y |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,467,468 (GRCm38) |
T476A |
possibly damaging |
Het |
| Wdr63 |
G |
T |
3: 146,063,480 (GRCm38) |
T522K |
possibly damaging |
Het |
| Whamm |
C |
T |
7: 81,591,771 (GRCm38) |
R277* |
probably null |
Het |
| Wnt8a |
A |
G |
18: 34,544,884 (GRCm38) |
D115G |
probably damaging |
Het |
| Xndc1 |
T |
A |
7: 102,073,191 (GRCm38) |
V21E |
probably damaging |
Het |
| Zc3hav1 |
C |
A |
6: 38,336,517 (GRCm38) |
V198L |
probably damaging |
Het |
| Zfp874a |
T |
A |
13: 67,442,504 (GRCm38) |
I354F |
probably benign |
Het |
| Zfr2 |
A |
T |
10: 81,242,852 (GRCm38) |
D306V |
possibly damaging |
Het |
|
| Other mutations in Cep290 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Cep290
|
APN |
10 |
100,508,724 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00499:Cep290
|
APN |
10 |
100,543,327 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00547:Cep290
|
APN |
10 |
100,510,708 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00573:Cep290
|
APN |
10 |
100,540,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00646:Cep290
|
APN |
10 |
100,501,154 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL00755:Cep290
|
APN |
10 |
100,531,104 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00835:Cep290
|
APN |
10 |
100,563,380 (GRCm38) |
nonsense |
probably null |
|
|
IGL00846:Cep290
|
APN |
10 |
100,540,333 (GRCm38) |
splice site |
probably benign |
|
|
IGL00985:Cep290
|
APN |
10 |
100,567,161 (GRCm38) |
splice site |
probably benign |
|
|
IGL01687:Cep290
|
APN |
10 |
100,500,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01782:Cep290
|
APN |
10 |
100,545,125 (GRCm38) |
nonsense |
probably null |
|
|
IGL02010:Cep290
|
APN |
10 |
100,561,345 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02010:Cep290
|
APN |
10 |
100,508,707 (GRCm38) |
missense |
probably benign |
0.39 |
|
IGL02036:Cep290
|
APN |
10 |
100,558,100 (GRCm38) |
nonsense |
probably null |
|
|
IGL02039:Cep290
|
APN |
10 |
100,514,602 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02532:Cep290
|
APN |
10 |
100,545,065 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02950:Cep290
|
APN |
10 |
100,540,329 (GRCm38) |
splice site |
probably benign |
|
|
IGL03105:Cep290
|
APN |
10 |
100,551,824 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL03179:Cep290
|
APN |
10 |
100,568,088 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
IGL03271:Cep290
|
APN |
10 |
100,537,801 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL03401:Cep290
|
APN |
10 |
100,500,265 (GRCm38) |
missense |
probably benign |
0.27 |
|
PIT4687001:Cep290
|
UTSW |
10 |
100,537,591 (GRCm38) |
missense |
probably benign |
0.28 |
|
R0025:Cep290
|
UTSW |
10 |
100,537,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0127:Cep290
|
UTSW |
10 |
100,536,925 (GRCm38) |
splice site |
probably benign |
|
|
R0254:Cep290
|
UTSW |
10 |
100,514,574 (GRCm38) |
missense |
probably benign |
0.31 |
|
R0295:Cep290
|
UTSW |
10 |
100,537,821 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0371:Cep290
|
UTSW |
10 |
100,518,564 (GRCm38) |
splice site |
probably benign |
|
|
R0390:Cep290
|
UTSW |
10 |
100,508,758 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0399:Cep290
|
UTSW |
10 |
100,554,400 (GRCm38) |
splice site |
probably benign |
|
|
R0413:Cep290
|
UTSW |
10 |
100,523,314 (GRCm38) |
nonsense |
probably null |
|
|
R0427:Cep290
|
UTSW |
10 |
100,516,179 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0472:Cep290
|
UTSW |
10 |
100,551,455 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0485:Cep290
|
UTSW |
10 |
100,549,344 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0635:Cep290
|
UTSW |
10 |
100,492,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0675:Cep290
|
UTSW |
10 |
100,568,813 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0972:Cep290
|
UTSW |
10 |
100,518,762 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1238:Cep290
|
UTSW |
10 |
100,517,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1297:Cep290
|
UTSW |
10 |
100,539,100 (GRCm38) |
splice site |
probably benign |
|
|
R1368:Cep290
|
UTSW |
10 |
100,494,966 (GRCm38) |
splice site |
probably benign |
|
|
R1394:Cep290
|
UTSW |
10 |
100,537,529 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1437:Cep290
|
UTSW |
10 |
100,572,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1493:Cep290
|
UTSW |
10 |
100,562,181 (GRCm38) |
missense |
probably benign |
0.21 |
|
R1496:Cep290
|
UTSW |
10 |
100,538,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1539:Cep290
|
UTSW |
10 |
100,496,828 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1598:Cep290
|
UTSW |
10 |
100,549,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1616:Cep290
|
UTSW |
10 |
100,568,836 (GRCm38) |
missense |
probably benign |
|
|
R1712:Cep290
|
UTSW |
10 |
100,554,499 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1753:Cep290
|
UTSW |
10 |
100,513,981 (GRCm38) |
missense |
probably benign |
|
|
R1773:Cep290
|
UTSW |
10 |
100,510,573 (GRCm38) |
missense |
probably benign |
|
|
R1775:Cep290
|
UTSW |
10 |
100,496,810 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1799:Cep290
|
UTSW |
10 |
100,516,196 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1937:Cep290
|
UTSW |
10 |
100,497,953 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2031:Cep290
|
UTSW |
10 |
100,512,400 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2164:Cep290
|
UTSW |
10 |
100,518,795 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2393:Cep290
|
UTSW |
10 |
100,561,238 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2403:Cep290
|
UTSW |
10 |
100,537,437 (GRCm38) |
missense |
probably benign |
0.19 |
|
R3612:Cep290
|
UTSW |
10 |
100,541,581 (GRCm38) |
nonsense |
probably null |
|
|
R3800:Cep290
|
UTSW |
10 |
100,572,941 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4005:Cep290
|
UTSW |
10 |
100,539,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4039:Cep290
|
UTSW |
10 |
100,512,401 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4259:Cep290
|
UTSW |
10 |
100,514,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4260:Cep290
|
UTSW |
10 |
100,514,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4319:Cep290
|
UTSW |
10 |
100,539,047 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4329:Cep290
|
UTSW |
10 |
100,537,668 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4573:Cep290
|
UTSW |
10 |
100,518,850 (GRCm38) |
missense |
probably benign |
|
|
R4614:Cep290
|
UTSW |
10 |
100,559,687 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4614:Cep290
|
UTSW |
10 |
100,508,740 (GRCm38) |
missense |
probably benign |
|
|
R4708:Cep290
|
UTSW |
10 |
100,523,264 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4727:Cep290
|
UTSW |
10 |
100,563,270 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4825:Cep290
|
UTSW |
10 |
100,488,348 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4839:Cep290
|
UTSW |
10 |
100,508,786 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4858:Cep290
|
UTSW |
10 |
100,494,911 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4871:Cep290
|
UTSW |
10 |
100,548,914 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5094:Cep290
|
UTSW |
10 |
100,567,030 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5103:Cep290
|
UTSW |
10 |
100,539,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5499:Cep290
|
UTSW |
10 |
100,537,653 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5505:Cep290
|
UTSW |
10 |
100,499,186 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5615:Cep290
|
UTSW |
10 |
100,531,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5815:Cep290
|
UTSW |
10 |
100,558,108 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5883:Cep290
|
UTSW |
10 |
100,523,399 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5889:Cep290
|
UTSW |
10 |
100,499,074 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5928:Cep290
|
UTSW |
10 |
100,551,830 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5992:Cep290
|
UTSW |
10 |
100,543,321 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R6000:Cep290
|
UTSW |
10 |
100,541,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6213:Cep290
|
UTSW |
10 |
100,523,360 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6274:Cep290
|
UTSW |
10 |
100,530,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6285:Cep290
|
UTSW |
10 |
100,523,329 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6306:Cep290
|
UTSW |
10 |
100,531,166 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6593:Cep290
|
UTSW |
10 |
100,508,776 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6649:Cep290
|
UTSW |
10 |
100,518,531 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6692:Cep290
|
UTSW |
10 |
100,569,144 (GRCm38) |
splice site |
probably null |
|
|
R6788:Cep290
|
UTSW |
10 |
100,488,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6847:Cep290
|
UTSW |
10 |
100,563,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6947:Cep290
|
UTSW |
10 |
100,530,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7035:Cep290
|
UTSW |
10 |
100,499,071 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7073:Cep290
|
UTSW |
10 |
100,539,003 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7114:Cep290
|
UTSW |
10 |
100,543,358 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7256:Cep290
|
UTSW |
10 |
100,546,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7258:Cep290
|
UTSW |
10 |
100,499,108 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7311:Cep290
|
UTSW |
10 |
100,537,718 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7505:Cep290
|
UTSW |
10 |
100,516,265 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7615:Cep290
|
UTSW |
10 |
100,492,681 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7643:Cep290
|
UTSW |
10 |
100,537,553 (GRCm38) |
missense |
probably benign |
|
|
R7662:Cep290
|
UTSW |
10 |
100,537,803 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7663:Cep290
|
UTSW |
10 |
100,554,536 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7685:Cep290
|
UTSW |
10 |
100,540,057 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7699:Cep290
|
UTSW |
10 |
100,540,369 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7717:Cep290
|
UTSW |
10 |
100,492,681 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7747:Cep290
|
UTSW |
10 |
100,558,176 (GRCm38) |
nonsense |
probably null |
|
|
R7757:Cep290
|
UTSW |
10 |
100,563,434 (GRCm38) |
missense |
probably benign |
|
|
R7843:Cep290
|
UTSW |
10 |
100,516,188 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7905:Cep290
|
UTSW |
10 |
100,554,490 (GRCm38) |
missense |
probably benign |
|
|
R8078:Cep290
|
UTSW |
10 |
100,572,887 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8081:Cep290
|
UTSW |
10 |
100,558,176 (GRCm38) |
nonsense |
probably null |
|
|
R8094:Cep290
|
UTSW |
10 |
100,544,931 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8266:Cep290
|
UTSW |
10 |
100,559,671 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8305:Cep290
|
UTSW |
10 |
100,544,934 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8325:Cep290
|
UTSW |
10 |
100,517,808 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8372:Cep290
|
UTSW |
10 |
100,549,341 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8443:Cep290
|
UTSW |
10 |
100,495,844 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8497:Cep290
|
UTSW |
10 |
100,551,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8778:Cep290
|
UTSW |
10 |
100,514,512 (GRCm38) |
nonsense |
probably null |
|
|
R8975:Cep290
|
UTSW |
10 |
100,513,920 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R9146:Cep290
|
UTSW |
10 |
100,541,803 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9264:Cep290
|
UTSW |
10 |
100,498,016 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9374:Cep290
|
UTSW |
10 |
100,536,867 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9448:Cep290
|
UTSW |
10 |
100,559,684 (GRCm38) |
missense |
probably benign |
0.32 |
|
R9499:Cep290
|
UTSW |
10 |
100,536,867 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9507:Cep290
|
UTSW |
10 |
100,494,923 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9539:Cep290
|
UTSW |
10 |
100,568,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9547:Cep290
|
UTSW |
10 |
100,544,979 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9551:Cep290
|
UTSW |
10 |
100,536,867 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9657:Cep290
|
UTSW |
10 |
100,515,141 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9731:Cep290
|
UTSW |
10 |
100,510,542 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9756:Cep290
|
UTSW |
10 |
100,516,172 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9777:Cep290
|
UTSW |
10 |
100,518,667 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Cep290
|
UTSW |
10 |
100,549,374 (GRCm38) |
critical splice donor site |
probably benign |
|
|
Z1177:Cep290
|
UTSW |
10 |
100,538,997 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
Z1177:Cep290
|
UTSW |
10 |
100,497,944 (GRCm38) |
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 |
Incidental Mutation