Incidental Mutation 'R4825:Cep290'
ID |
371429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep290
|
Ensembl Gene |
ENSMUSG00000019971 |
Gene Name |
centrosomal protein 290 |
Synonyms |
Kiaa, Nphp6, b2b1752Clo, b2b1454Clo |
MMRRC Submission |
042441-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.951)
|
Stock # |
R4825 (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 A
at 100324210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 14
(D14E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058154]
[ENSMUST00000099318]
[ENSMUST00000128009]
[ENSMUST00000134477]
[ENSMUST00000164751]
[ENSMUST00000220346]
[ENSMUST00000219765]
|
AlphaFold |
Q6A078 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058154
|
SMART Domains |
Protein: ENSMUSP00000061470 Gene: ENSMUSG00000036676
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
transmembrane domain
|
173 |
192 |
N/A |
INTRINSIC |
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
Pfam:DUF1736
|
263 |
336 |
5.4e-35 |
PFAM |
transmembrane domain
|
353 |
375 |
N/A |
INTRINSIC |
transmembrane domain
|
382 |
399 |
N/A |
INTRINSIC |
TPR
|
451 |
484 |
8.23e-6 |
SMART |
TPR
|
485 |
518 |
2.13e1 |
SMART |
TPR
|
533 |
567 |
8.77e1 |
SMART |
TPR
|
568 |
601 |
3.19e-3 |
SMART |
TPR
|
602 |
635 |
1.06e-8 |
SMART |
TPR
|
673 |
706 |
1.35e-1 |
SMART |
TPR
|
707 |
740 |
1.44e1 |
SMART |
TPR
|
741 |
775 |
1.51e1 |
SMART |
TPR
|
776 |
809 |
9e1 |
SMART |
low complexity region
|
867 |
880 |
N/A |
INTRINSIC |
low complexity region
|
891 |
902 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099318
|
SMART Domains |
Protein: ENSMUSP00000096921 Gene: ENSMUSG00000036676
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
transmembrane domain
|
173 |
192 |
N/A |
INTRINSIC |
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
Pfam:DUF1736
|
261 |
338 |
2.6e-33 |
PFAM |
transmembrane domain
|
353 |
375 |
N/A |
INTRINSIC |
transmembrane domain
|
382 |
399 |
N/A |
INTRINSIC |
TPR
|
451 |
484 |
8.23e-6 |
SMART |
TPR
|
485 |
518 |
2.13e1 |
SMART |
TPR
|
533 |
567 |
8.77e1 |
SMART |
TPR
|
568 |
601 |
3.19e-3 |
SMART |
TPR
|
602 |
635 |
1.06e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130883
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134477
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164751
AA Change: D14E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130899 Gene: ENSMUSG00000019971 AA Change: D14E
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: ENSMUST00000220346
AA Change: D14E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219765
AA Change: D14E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
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: 130 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
C |
A |
11: 109,682,498 (GRCm39) |
L229F |
probably benign |
Het |
A930002H24Rik |
A |
C |
17: 64,170,603 (GRCm39) |
S62A |
unknown |
Het |
Abca12 |
T |
A |
1: 71,341,844 (GRCm39) |
Q1039L |
possibly damaging |
Het |
Adgrg5 |
T |
A |
8: 95,668,362 (GRCm39) |
F476I |
possibly damaging |
Het |
Alms1 |
A |
G |
6: 85,655,227 (GRCm39) |
K2789E |
probably damaging |
Het |
Arrdc2 |
G |
A |
8: 71,291,921 (GRCm39) |
|
probably null |
Het |
Atp2b1 |
T |
A |
10: 98,845,426 (GRCm39) |
I743K |
probably damaging |
Het |
Atp6v1c2 |
C |
T |
12: 17,339,061 (GRCm39) |
G230D |
probably benign |
Het |
AU040320 |
G |
A |
4: 126,685,586 (GRCm39) |
C54Y |
probably damaging |
Het |
BC024139 |
C |
T |
15: 76,004,517 (GRCm39) |
V680I |
possibly damaging |
Het |
Bckdhb |
A |
G |
9: 83,870,958 (GRCm39) |
D156G |
probably damaging |
Het |
Bltp3a |
G |
A |
17: 28,096,368 (GRCm39) |
A107T |
probably damaging |
Het |
Canx |
T |
A |
11: 50,199,636 (GRCm39) |
D143V |
probably benign |
Het |
Ccdc180 |
T |
A |
4: 45,912,794 (GRCm39) |
V591E |
possibly damaging |
Het |
Ccno |
T |
C |
13: 113,124,633 (GRCm39) |
S68P |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,603,613 (GRCm39) |
E527K |
probably damaging |
Het |
Cgnl1 |
A |
G |
9: 71,537,806 (GRCm39) |
V1238A |
probably benign |
Het |
Ciz1 |
C |
T |
2: 32,261,753 (GRCm39) |
A455V |
probably damaging |
Het |
Coro2b |
T |
A |
9: 62,361,905 (GRCm39) |
Y86F |
probably benign |
Het |
Csf2ra |
C |
T |
19: 61,214,990 (GRCm39) |
R158Q |
probably benign |
Het |
Cubn |
A |
T |
2: 13,330,036 (GRCm39) |
I2615N |
probably damaging |
Het |
Dhx8 |
C |
T |
11: 101,628,996 (GRCm39) |
R129* |
probably null |
Het |
Disc1 |
T |
A |
8: 125,862,041 (GRCm39) |
M471K |
possibly damaging |
Het |
Dmxl2 |
G |
T |
9: 54,311,325 (GRCm39) |
L1799I |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,314,031 (GRCm39) |
S4108P |
probably damaging |
Het |
Ecpas |
G |
A |
4: 58,850,911 (GRCm39) |
L421F |
probably damaging |
Het |
Ehmt2 |
C |
G |
17: 35,125,940 (GRCm39) |
P211R |
probably benign |
Het |
Eif4g3 |
A |
G |
4: 137,921,392 (GRCm39) |
D1557G |
probably benign |
Het |
Epha5 |
T |
C |
5: 84,381,699 (GRCm39) |
D384G |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,811,738 (GRCm39) |
I1274V |
probably damaging |
Het |
Fhip1a |
G |
A |
3: 85,580,739 (GRCm39) |
P489S |
possibly damaging |
Het |
Fip1l1 |
G |
A |
5: 74,748,866 (GRCm39) |
|
probably null |
Het |
Fubp1 |
T |
C |
3: 151,923,527 (GRCm39) |
|
probably null |
Het |
Glul |
T |
C |
1: 153,778,790 (GRCm39) |
V33A |
probably benign |
Het |
Gm4846 |
A |
G |
1: 166,319,237 (GRCm39) |
F167S |
probably damaging |
Het |
Heatr6 |
T |
A |
11: 83,649,148 (GRCm39) |
L168M |
probably damaging |
Het |
Hif1a |
T |
A |
12: 73,979,175 (GRCm39) |
I233N |
probably damaging |
Het |
Hivep2 |
T |
A |
10: 14,007,063 (GRCm39) |
H1220Q |
possibly damaging |
Het |
Igkv8-21 |
T |
C |
6: 70,292,410 (GRCm39) |
I9M |
probably benign |
Het |
Izumo1 |
T |
A |
7: 45,274,411 (GRCm39) |
C62* |
probably null |
Het |
Jakmip3 |
G |
A |
7: 138,628,495 (GRCm39) |
E424K |
probably damaging |
Het |
Klhl2 |
A |
G |
8: 65,205,847 (GRCm39) |
V358A |
probably damaging |
Het |
Klk10 |
C |
G |
7: 43,433,022 (GRCm39) |
D139E |
probably damaging |
Het |
Klk14 |
T |
C |
7: 43,341,500 (GRCm39) |
C51R |
probably damaging |
Het |
Klk1b5 |
T |
G |
7: 43,494,814 (GRCm39) |
I99S |
probably damaging |
Het |
L3hypdh |
T |
C |
12: 72,124,167 (GRCm39) |
T258A |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,664,292 (GRCm39) |
Y812H |
probably damaging |
Het |
Lrrc40 |
T |
A |
3: 157,766,967 (GRCm39) |
L474* |
probably null |
Het |
Mkks |
A |
T |
2: 136,722,575 (GRCm39) |
M194K |
probably benign |
Het |
Mmp20 |
A |
G |
9: 7,654,121 (GRCm39) |
D347G |
probably damaging |
Het |
Mmp27 |
A |
G |
9: 7,581,195 (GRCm39) |
E460G |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,536,226 (GRCm39) |
F605S |
probably damaging |
Het |
Mpzl3 |
A |
G |
9: 44,979,627 (GRCm39) |
S193G |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,570,565 (GRCm39) |
T542S |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,422,202 (GRCm39) |
L4446P |
possibly damaging |
Het |
Mxi1 |
C |
A |
19: 53,358,769 (GRCm39) |
S131* |
probably null |
Het |
Nanog |
G |
T |
6: 122,690,299 (GRCm39) |
A210S |
probably benign |
Het |
Nrcam |
C |
T |
12: 44,622,769 (GRCm39) |
Q988* |
probably null |
Het |
Nsg1 |
C |
A |
5: 38,316,391 (GRCm39) |
|
probably benign |
Het |
Ogfod3 |
G |
A |
11: 121,086,027 (GRCm39) |
A189V |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,918,038 (GRCm39) |
M69K |
possibly damaging |
Het |
Or12e9 |
T |
A |
2: 87,202,432 (GRCm39) |
C185* |
probably null |
Het |
Or4a68 |
A |
G |
2: 89,270,209 (GRCm39) |
V138A |
probably benign |
Het |
Or4c122 |
T |
C |
2: 89,079,034 (GRCm39) |
|
probably null |
Het |
Or4c35 |
G |
A |
2: 89,808,497 (GRCm39) |
C125Y |
probably damaging |
Het |
Or51ai2 |
T |
C |
7: 103,586,710 (GRCm39) |
V41A |
probably benign |
Het |
Or52b4i |
T |
A |
7: 102,191,587 (GRCm39) |
V148E |
possibly damaging |
Het |
Or5b111 |
A |
T |
19: 13,291,684 (GRCm39) |
|
probably null |
Het |
Or7e165 |
T |
G |
9: 19,694,872 (GRCm39) |
S148A |
possibly damaging |
Het |
Or8b53 |
A |
T |
9: 38,667,703 (GRCm39) |
T240S |
probably damaging |
Het |
Orc3 |
A |
T |
4: 34,571,774 (GRCm39) |
M665K |
possibly damaging |
Het |
Pabpc1 |
A |
G |
15: 36,597,255 (GRCm39) |
S591P |
probably damaging |
Het |
Pacc1 |
A |
T |
1: 191,073,040 (GRCm39) |
I154F |
probably damaging |
Het |
Parp6 |
T |
A |
9: 59,531,645 (GRCm39) |
|
probably null |
Het |
Pcdh1 |
T |
C |
18: 38,322,912 (GRCm39) |
M974V |
possibly damaging |
Het |
Pcdhb22 |
T |
A |
18: 37,653,713 (GRCm39) |
V727E |
possibly damaging |
Het |
Pex5l |
T |
C |
3: 33,047,134 (GRCm39) |
E272G |
probably damaging |
Het |
Pglyrp2 |
G |
T |
17: 32,637,235 (GRCm39) |
N264K |
probably benign |
Het |
Phxr4 |
T |
A |
9: 13,342,882 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,278,025 (GRCm39) |
F293S |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,607,625 (GRCm39) |
D1077G |
probably damaging |
Het |
Plekhs1 |
A |
G |
19: 56,461,700 (GRCm39) |
|
probably null |
Het |
Prex1 |
G |
T |
2: 166,427,777 (GRCm39) |
C788* |
probably null |
Het |
Prrt3 |
A |
T |
6: 113,475,099 (GRCm39) |
M41K |
probably benign |
Het |
Ptgir |
T |
C |
7: 16,642,768 (GRCm39) |
V326A |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,220,654 (GRCm38) |
D455E |
probably damaging |
Het |
Ptpru |
T |
A |
4: 131,526,914 (GRCm39) |
Q686L |
probably benign |
Het |
Pxdc1 |
G |
T |
13: 34,814,343 (GRCm39) |
T190K |
probably benign |
Het |
Rap1b |
A |
T |
10: 117,654,487 (GRCm39) |
C118S |
probably benign |
Het |
Rapgef2 |
T |
C |
3: 78,990,534 (GRCm39) |
M915V |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpe65 |
C |
T |
3: 159,330,318 (GRCm39) |
A495V |
probably benign |
Het |
Samd15 |
A |
G |
12: 87,247,608 (GRCm39) |
T98A |
possibly damaging |
Het |
Sdk1 |
T |
G |
5: 141,568,049 (GRCm39) |
D82E |
probably benign |
Het |
Slc26a7 |
T |
C |
4: 14,546,309 (GRCm39) |
D340G |
probably benign |
Het |
Slc6a15 |
T |
A |
10: 103,253,921 (GRCm39) |
M619K |
probably benign |
Het |
Slc7a4 |
C |
A |
16: 17,392,385 (GRCm39) |
D350Y |
probably damaging |
Het |
Slk |
T |
G |
19: 47,608,395 (GRCm39) |
N449K |
probably benign |
Het |
Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
Sptbn5 |
A |
T |
2: 119,886,374 (GRCm39) |
|
probably benign |
Het |
Srd5a2 |
A |
T |
17: 74,354,800 (GRCm39) |
V8D |
probably benign |
Het |
Srgap3 |
G |
A |
6: 112,704,271 (GRCm39) |
A906V |
probably benign |
Het |
Stab2 |
A |
T |
10: 86,783,011 (GRCm39) |
M679K |
probably benign |
Het |
Stk3 |
T |
C |
15: 35,000,054 (GRCm39) |
I291V |
probably benign |
Het |
Supt6 |
T |
A |
11: 78,098,960 (GRCm39) |
Q1637L |
possibly damaging |
Het |
Svil |
T |
C |
18: 5,114,564 (GRCm39) |
F2047S |
probably damaging |
Het |
Swsap1 |
A |
G |
9: 21,867,284 (GRCm39) |
E76G |
probably benign |
Het |
Syndig1 |
G |
T |
2: 149,741,473 (GRCm39) |
G20C |
probably damaging |
Het |
Synj2bp |
A |
T |
12: 81,548,926 (GRCm39) |
N104K |
probably damaging |
Het |
Synpo2 |
T |
A |
3: 122,908,068 (GRCm39) |
D416V |
probably damaging |
Het |
Tacc3 |
G |
T |
5: 33,829,357 (GRCm39) |
C620F |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,529,766 (GRCm39) |
E19G |
probably damaging |
Het |
Tars3 |
C |
T |
7: 65,297,302 (GRCm39) |
A139V |
probably benign |
Het |
Tbc1d22a |
T |
A |
15: 86,235,935 (GRCm39) |
C365S |
probably damaging |
Het |
Tdpoz2 |
T |
C |
3: 93,559,381 (GRCm39) |
H197R |
possibly damaging |
Het |
Tha1 |
A |
T |
11: 117,760,205 (GRCm39) |
N300K |
probably damaging |
Het |
Tm6sf1 |
T |
A |
7: 81,515,008 (GRCm39) |
F70L |
probably damaging |
Het |
Tmem132b |
T |
A |
5: 125,860,497 (GRCm39) |
S581T |
probably benign |
Het |
Tnfsf13 |
G |
T |
11: 69,576,075 (GRCm39) |
S4* |
probably null |
Het |
Tonsl |
G |
A |
15: 76,517,448 (GRCm39) |
S757L |
probably benign |
Het |
Trem2 |
G |
T |
17: 48,658,719 (GRCm39) |
R161S |
possibly damaging |
Het |
Trpm2 |
A |
T |
10: 77,777,007 (GRCm39) |
V430E |
probably damaging |
Het |
Ttc14 |
T |
A |
3: 33,855,518 (GRCm39) |
D154E |
possibly damaging |
Het |
Ugt2b37 |
T |
C |
5: 87,398,498 (GRCm39) |
M313V |
possibly damaging |
Het |
Vmn2r24 |
A |
G |
6: 123,792,739 (GRCm39) |
I689V |
probably benign |
Het |
Wdr76 |
A |
G |
2: 121,372,975 (GRCm39) |
T601A |
probably benign |
Het |
Xirp1 |
T |
C |
9: 119,846,069 (GRCm39) |
D938G |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,041 (GRCm39) |
D966E |
probably benign |
Het |
Zfp957 |
A |
G |
14: 79,451,796 (GRCm39) |
M1T |
probably null |
Het |
Zkscan16 |
A |
T |
4: 58,957,809 (GRCm39) |
H697L |
possibly damaging |
Het |
|
Other mutations in Cep290 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00430:Cep290
|
APN |
10 |
100,344,586 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00499:Cep290
|
APN |
10 |
100,379,189 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00547:Cep290
|
APN |
10 |
100,346,570 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00573:Cep290
|
APN |
10 |
100,376,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00646:Cep290
|
APN |
10 |
100,337,016 (GRCm39) |
missense |
probably benign |
0.15 |
IGL00755:Cep290
|
APN |
10 |
100,366,966 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00835:Cep290
|
APN |
10 |
100,399,242 (GRCm39) |
nonsense |
probably null |
|
IGL00846:Cep290
|
APN |
10 |
100,376,195 (GRCm39) |
splice site |
probably benign |
|
IGL00985:Cep290
|
APN |
10 |
100,403,023 (GRCm39) |
splice site |
probably benign |
|
IGL01687:Cep290
|
APN |
10 |
100,336,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01782:Cep290
|
APN |
10 |
100,380,987 (GRCm39) |
nonsense |
probably null |
|
IGL02010:Cep290
|
APN |
10 |
100,397,207 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02010:Cep290
|
APN |
10 |
100,344,569 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02036:Cep290
|
APN |
10 |
100,393,962 (GRCm39) |
nonsense |
probably null |
|
IGL02039:Cep290
|
APN |
10 |
100,350,464 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02532:Cep290
|
APN |
10 |
100,380,927 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02950:Cep290
|
APN |
10 |
100,376,191 (GRCm39) |
splice site |
probably benign |
|
IGL03105:Cep290
|
APN |
10 |
100,387,686 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03179:Cep290
|
APN |
10 |
100,403,950 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL03271:Cep290
|
APN |
10 |
100,373,663 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03401:Cep290
|
APN |
10 |
100,336,127 (GRCm39) |
missense |
probably benign |
0.27 |
PIT4687001:Cep290
|
UTSW |
10 |
100,373,453 (GRCm39) |
missense |
probably benign |
0.28 |
R0025:Cep290
|
UTSW |
10 |
100,373,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Cep290
|
UTSW |
10 |
100,372,787 (GRCm39) |
splice site |
probably benign |
|
R0254:Cep290
|
UTSW |
10 |
100,350,436 (GRCm39) |
missense |
probably benign |
0.31 |
R0295:Cep290
|
UTSW |
10 |
100,373,683 (GRCm39) |
missense |
probably damaging |
0.99 |
R0371:Cep290
|
UTSW |
10 |
100,354,426 (GRCm39) |
splice site |
probably benign |
|
R0390:Cep290
|
UTSW |
10 |
100,344,620 (GRCm39) |
missense |
probably benign |
0.09 |
R0399:Cep290
|
UTSW |
10 |
100,390,262 (GRCm39) |
splice site |
probably benign |
|
R0413:Cep290
|
UTSW |
10 |
100,359,176 (GRCm39) |
nonsense |
probably null |
|
R0427:Cep290
|
UTSW |
10 |
100,352,041 (GRCm39) |
missense |
probably benign |
0.01 |
R0472:Cep290
|
UTSW |
10 |
100,387,317 (GRCm39) |
missense |
probably benign |
0.19 |
R0485:Cep290
|
UTSW |
10 |
100,385,206 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0635:Cep290
|
UTSW |
10 |
100,328,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R0675:Cep290
|
UTSW |
10 |
100,404,675 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0972:Cep290
|
UTSW |
10 |
100,354,624 (GRCm39) |
missense |
probably benign |
0.08 |
R1238:Cep290
|
UTSW |
10 |
100,353,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1297:Cep290
|
UTSW |
10 |
100,374,962 (GRCm39) |
splice site |
probably benign |
|
R1368:Cep290
|
UTSW |
10 |
100,330,828 (GRCm39) |
splice site |
probably benign |
|
R1394:Cep290
|
UTSW |
10 |
100,373,391 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1437:Cep290
|
UTSW |
10 |
100,407,963 (GRCm39) |
missense |
probably benign |
0.00 |
R1493:Cep290
|
UTSW |
10 |
100,398,043 (GRCm39) |
missense |
probably benign |
0.21 |
R1496:Cep290
|
UTSW |
10 |
100,374,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R1539:Cep290
|
UTSW |
10 |
100,332,690 (GRCm39) |
missense |
probably benign |
0.06 |
R1598:Cep290
|
UTSW |
10 |
100,385,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R1616:Cep290
|
UTSW |
10 |
100,404,698 (GRCm39) |
missense |
probably benign |
|
R1712:Cep290
|
UTSW |
10 |
100,390,361 (GRCm39) |
missense |
probably benign |
0.02 |
R1753:Cep290
|
UTSW |
10 |
100,349,843 (GRCm39) |
missense |
probably benign |
|
R1773:Cep290
|
UTSW |
10 |
100,346,435 (GRCm39) |
missense |
probably benign |
|
R1775:Cep290
|
UTSW |
10 |
100,332,672 (GRCm39) |
missense |
probably damaging |
0.98 |
R1799:Cep290
|
UTSW |
10 |
100,352,058 (GRCm39) |
missense |
probably benign |
0.00 |
R1937:Cep290
|
UTSW |
10 |
100,333,815 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |
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'- GAACTAATTTTCGTCGAGGCTG -3'
(R):5'- TGGACTATTTCATACCCTGCAC -3'
Sequencing Primer
(F):5'- TTGCAGTTCAGGAGCCATAGC -3'
(R):5'- TGCACATTAAATACAAGCACTCTTC -3'
|
Posted On |
2016-03-01 |