Incidental Mutation 'R1937:Cep290'
| ID |
213563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep290
|
| Ensembl Gene |
ENSMUSG00000019971 |
| Gene Name |
centrosomal protein 290 |
| Synonyms |
Kiaa, Nphp6, b2b1752Clo, b2b1454Clo |
| MMRRC Submission |
039955-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R1937 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
100323410-100409527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100333815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 289
(T289M)
|
| 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: T289M
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
AA Change: T289M
| 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: T282M
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220231
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220346
AA Change: T289M
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.5%
|
| 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: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
C |
A |
5: 48,531,777 (GRCm39) |
T35K |
probably benign |
Het |
| Abhd14a |
A |
G |
9: 106,317,446 (GRCm39) |
|
probably benign |
Het |
| Abhd8 |
A |
G |
8: 71,914,506 (GRCm39) |
F41L |
possibly damaging |
Het |
| Ace2 |
A |
T |
X: 162,939,524 (GRCm39) |
M123L |
possibly damaging |
Het |
| Actr5 |
T |
C |
2: 158,477,949 (GRCm39) |
Y440H |
possibly damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,496,383 (GRCm39) |
N81K |
probably benign |
Het |
| Aqp11 |
T |
A |
7: 97,386,725 (GRCm39) |
N157I |
possibly damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,071,282 (GRCm39) |
E568G |
probably damaging |
Het |
| Asb7 |
T |
A |
7: 66,329,001 (GRCm39) |
Q13L |
probably benign |
Het |
| Atf7ip |
C |
A |
6: 136,537,778 (GRCm39) |
A345E |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Bpifb4 |
A |
T |
2: 153,785,996 (GRCm39) |
I259F |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,038,925 (GRCm39) |
D1218E |
probably damaging |
Het |
| Capg |
A |
G |
6: 72,535,236 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
T |
C |
5: 5,643,818 (GRCm39) |
Y548C |
probably damaging |
Het |
| Cfap97d1 |
A |
T |
11: 101,877,989 (GRCm39) |
H17L |
probably damaging |
Het |
| Cimip2b |
T |
A |
4: 43,427,586 (GRCm39) |
K220N |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,377,340 (GRCm39) |
L652P |
probably damaging |
Het |
| Col3a1 |
C |
T |
1: 45,373,453 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,446,596 (GRCm39) |
E843G |
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,961,442 (GRCm39) |
S188P |
probably damaging |
Het |
| Crppa |
G |
A |
12: 36,440,367 (GRCm39) |
V92I |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,485,289 (GRCm39) |
F307L |
probably benign |
Het |
| Cyb561d2 |
G |
A |
9: 107,417,515 (GRCm39) |
R79W |
probably damaging |
Het |
| Cyp3a59 |
T |
C |
5: 146,031,187 (GRCm39) |
S117P |
possibly damaging |
Het |
| Ddias |
A |
G |
7: 92,507,830 (GRCm39) |
I695T |
probably benign |
Het |
| Dhx29 |
G |
A |
13: 113,101,864 (GRCm39) |
G1311D |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,139,159 (GRCm39) |
|
probably null |
Het |
| Ece2 |
T |
A |
16: 20,436,616 (GRCm39) |
V146E |
probably damaging |
Het |
| Eml2 |
A |
G |
7: 18,937,889 (GRCm39) |
K586E |
possibly damaging |
Het |
| Eps8l3 |
A |
G |
3: 107,791,708 (GRCm39) |
E316G |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,493,863 (GRCm39) |
L22H |
probably damaging |
Het |
| Focad |
T |
A |
4: 88,319,318 (GRCm39) |
M1K |
probably null |
Het |
| Fryl |
A |
G |
5: 73,290,710 (GRCm39) |
S65P |
probably damaging |
Het |
| Gm14190 |
C |
T |
11: 99,581,556 (GRCm39) |
C4Y |
unknown |
Het |
| H2-T5 |
T |
A |
17: 36,478,899 (GRCm39) |
T117S |
probably damaging |
Het |
| Ift74 |
T |
A |
4: 94,550,883 (GRCm39) |
M345K |
probably benign |
Het |
| Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
| Kcng1 |
T |
C |
2: 168,104,941 (GRCm39) |
T302A |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,930,278 (GRCm39) |
V1221A |
possibly damaging |
Het |
| Kif23 |
A |
T |
9: 61,853,892 (GRCm39) |
|
probably null |
Het |
| Lpxn |
T |
G |
19: 12,802,274 (GRCm39) |
S200A |
probably benign |
Het |
| Meiob |
A |
G |
17: 25,037,305 (GRCm39) |
H61R |
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,056,799 (GRCm39) |
L425F |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,401,126 (GRCm39) |
S632C |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,307,100 (GRCm39) |
Y374* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,372,826 (GRCm39) |
S582G |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,173,798 (GRCm39) |
Q985L |
probably damaging |
Het |
| Oas1c |
T |
A |
5: 120,941,049 (GRCm39) |
H248L |
probably benign |
Het |
| Or5c1 |
A |
T |
2: 37,221,896 (GRCm39) |
N46Y |
probably damaging |
Het |
| Or5g26 |
T |
C |
2: 85,494,341 (GRCm39) |
I146V |
probably benign |
Het |
| Or5h25 |
A |
T |
16: 58,930,157 (GRCm39) |
M272K |
probably benign |
Het |
| Or8g35 |
A |
G |
9: 39,381,333 (GRCm39) |
S230P |
possibly damaging |
Het |
| Pamr1 |
A |
T |
2: 102,472,617 (GRCm39) |
I639F |
possibly damaging |
Het |
| Panx1 |
G |
T |
9: 14,918,980 (GRCm39) |
T293K |
possibly damaging |
Het |
| Papss1 |
G |
T |
3: 131,305,632 (GRCm39) |
V226F |
probably benign |
Het |
| Pax1 |
G |
T |
2: 147,209,809 (GRCm39) |
G301V |
possibly damaging |
Het |
| Pdlim5 |
C |
A |
3: 141,950,742 (GRCm39) |
R557L |
possibly damaging |
Het |
| Pdyn |
C |
A |
2: 129,531,729 (GRCm39) |
M20I |
probably benign |
Het |
| Pelp1 |
G |
A |
11: 70,284,541 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
T |
C |
5: 104,626,790 (GRCm39) |
V324A |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,703,368 (GRCm39) |
I856T |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,913,536 (GRCm39) |
|
probably null |
Het |
| Pot1a |
A |
T |
6: 25,753,323 (GRCm39) |
D404E |
probably benign |
Het |
| Ppp2r2a |
A |
T |
14: 67,253,878 (GRCm39) |
I430N |
possibly damaging |
Het |
| Prob1 |
C |
T |
18: 35,787,279 (GRCm39) |
R325Q |
possibly damaging |
Het |
| Prrc2a |
T |
C |
17: 35,376,884 (GRCm39) |
D742G |
probably damaging |
Het |
| Psmc1 |
C |
T |
12: 100,081,102 (GRCm39) |
P54S |
probably benign |
Het |
| Rab22a |
A |
G |
2: 173,530,004 (GRCm39) |
T61A |
probably damaging |
Het |
| Rims1 |
T |
A |
1: 22,358,754 (GRCm39) |
K184N |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,322,511 (GRCm39) |
R1376H |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,683,848 (GRCm39) |
E3072G |
probably damaging |
Het |
| Serpina1b |
T |
C |
12: 103,698,420 (GRCm39) |
K143R |
probably benign |
Het |
| Slc22a15 |
T |
G |
3: 101,787,505 (GRCm39) |
|
probably null |
Het |
| Slc25a14 |
G |
A |
X: 47,740,840 (GRCm39) |
V210I |
probably benign |
Het |
| Slc25a48 |
A |
C |
13: 56,596,811 (GRCm39) |
T31P |
probably damaging |
Het |
| Slc9a3 |
C |
T |
13: 74,314,175 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,805,030 (GRCm39) |
*105W |
probably null |
Het |
| Smc6 |
A |
G |
12: 11,349,399 (GRCm39) |
N794S |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,834,307 (GRCm39) |
R387Q |
probably damaging |
Het |
| Sphkap |
C |
A |
1: 83,245,162 (GRCm39) |
E1486* |
probably null |
Het |
| Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
| St8sia1 |
C |
T |
6: 142,909,398 (GRCm39) |
A33T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,194,399 (GRCm39) |
T12A |
possibly damaging |
Het |
| Tmem144 |
G |
T |
3: 79,732,611 (GRCm39) |
S222R |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,646,849 (GRCm39) |
D1450G |
possibly damaging |
Het |
| Top1 |
A |
T |
2: 160,512,042 (GRCm39) |
K27N |
unknown |
Het |
| Tox2 |
A |
G |
2: 163,067,476 (GRCm39) |
H30R |
probably benign |
Het |
| Tra2b |
T |
C |
16: 22,065,993 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
T |
15: 27,833,142 (GRCm39) |
V1165E |
probably damaging |
Het |
| Troap |
T |
A |
15: 98,975,269 (GRCm39) |
S145R |
probably damaging |
Het |
| Ttc34 |
G |
A |
4: 154,950,139 (GRCm39) |
A1031T |
possibly damaging |
Het |
| Ttc6 |
C |
T |
12: 57,663,109 (GRCm39) |
P302S |
probably benign |
Het |
| Ubiad1 |
A |
G |
4: 148,528,468 (GRCm39) |
L147P |
probably damaging |
Het |
| Ugt2b35 |
G |
T |
5: 87,149,141 (GRCm39) |
V131F |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,804,401 (GRCm39) |
D200E |
probably damaging |
Het |
| Vmn1r167 |
G |
A |
7: 23,204,452 (GRCm39) |
T188I |
probably benign |
Het |
| Vmn1r46 |
G |
T |
6: 89,953,716 (GRCm39) |
M188I |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,388 (GRCm39) |
N620K |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,644,344 (GRCm39) |
S689P |
probably damaging |
Het |
| Wipf2 |
C |
T |
11: 98,783,236 (GRCm39) |
R221* |
probably null |
Het |
| Zbtb16 |
T |
C |
9: 48,571,078 (GRCm39) |
S563G |
probably benign |
Het |
| Zfp319 |
T |
C |
8: 96,055,199 (GRCm39) |
T335A |
probably damaging |
Het |
| Zfp418 |
A |
G |
7: 7,185,401 (GRCm39) |
R455G |
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 |
|
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'- GTGTCCAATTTGAGAGCATTTCAG -3'
(R):5'- TGCCTGGAAAGTGCTTGTC -3'
Sequencing Primer
(F):5'- GTGCAGCTGTAAACATGTC -3'
(R):5'- TGTCTAATAAATGAACAAGCTCGAGG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation