Incidental Mutation 'R0538:Cep350'
| ID |
49540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep350
|
| Ensembl Gene |
ENSMUSG00000033671 |
| Gene Name |
centrosomal protein 350 |
| Synonyms |
6430546F08Rik, 4933409L06Rik |
| MMRRC Submission |
038730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R0538 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155844964-155973255 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155848620 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 3077
(D3077E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000138762]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132189
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138762
AA Change: D3077E
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: D3077E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
251 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
491 |
N/A |
INTRINSIC |
|
coiled coil region
|
596 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1175 |
N/A |
INTRINSIC |
|
low complexity region
|
1250 |
1267 |
N/A |
INTRINSIC |
|
coiled coil region
|
1363 |
1402 |
N/A |
INTRINSIC |
|
low complexity region
|
1517 |
1531 |
N/A |
INTRINSIC |
|
low complexity region
|
1536 |
1546 |
N/A |
INTRINSIC |
|
low complexity region
|
1694 |
1714 |
N/A |
INTRINSIC |
|
coiled coil region
|
1732 |
1794 |
N/A |
INTRINSIC |
|
low complexity region
|
1800 |
1811 |
N/A |
INTRINSIC |
|
low complexity region
|
1819 |
1835 |
N/A |
INTRINSIC |
|
coiled coil region
|
1853 |
1893 |
N/A |
INTRINSIC |
|
low complexity region
|
1980 |
1994 |
N/A |
INTRINSIC |
|
coiled coil region
|
2042 |
2092 |
N/A |
INTRINSIC |
|
low complexity region
|
2383 |
2394 |
N/A |
INTRINSIC |
|
low complexity region
|
2409 |
2421 |
N/A |
INTRINSIC |
|
low complexity region
|
2470 |
2482 |
N/A |
INTRINSIC |
|
CAP_GLY
|
2486 |
2551 |
5.91e-31 |
SMART |
|
coiled coil region
|
2700 |
2731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195048
|
| Meta Mutation Damage Score |
0.1123 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
98% (126/129) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
| Other mutations in this stock |
Total: 129 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
A |
T |
14: 66,938,374 (GRCm38) |
H6L |
unknown |
Het |
| Abca13 |
G |
A |
11: 9,267,622 (GRCm38) |
|
probably null |
Het |
| Acad12 |
C |
T |
5: 121,607,448 (GRCm38) |
R260Q |
possibly damaging |
Het |
| Actn1 |
G |
A |
12: 80,260,100 (GRCm38) |
|
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,136,149 (GRCm38) |
T182A |
probably damaging |
Het |
| Adam23 |
T |
C |
1: 63,567,844 (GRCm38) |
|
probably benign |
Het |
| Adamtsl1 |
A |
T |
4: 86,343,121 (GRCm38) |
T1190S |
probably benign |
Het |
| Adh6b |
A |
T |
3: 138,357,650 (GRCm38) |
Y330F |
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,766,617 (GRCm38) |
E540G |
probably damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,237,100 (GRCm38) |
L106Q |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,049,852 (GRCm38) |
S57T |
probably damaging |
Het |
| Aoc3 |
G |
A |
11: 101,332,138 (GRCm38) |
R400Q |
possibly damaging |
Het |
| Arel1 |
A |
T |
12: 84,941,837 (GRCm38) |
I46N |
probably damaging |
Het |
| Armc5 |
A |
G |
7: 128,244,291 (GRCm38) |
D752G |
probably damaging |
Het |
| Atp11b |
T |
C |
3: 35,837,014 (GRCm38) |
V812A |
probably damaging |
Het |
| Axin1 |
A |
G |
17: 26,184,241 (GRCm38) |
H131R |
possibly damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,923,869 (GRCm38) |
E184G |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,524,383 (GRCm38) |
|
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,662,828 (GRCm38) |
F641L |
probably benign |
Het |
| Ccdc83 |
A |
C |
7: 90,228,383 (GRCm38) |
L284V |
probably damaging |
Het |
| Ccnt2 |
T |
A |
1: 127,803,165 (GRCm38) |
V593E |
probably damaging |
Het |
| Cd53 |
T |
A |
3: 106,762,128 (GRCm38) |
I185F |
probably benign |
Het |
| Ces1h |
C |
A |
8: 93,357,000 (GRCm38) |
|
probably null |
Het |
| Chrna3 |
T |
A |
9: 55,016,006 (GRCm38) |
T173S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,921,956 (GRCm38) |
D418G |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,051,328 (GRCm38) |
|
probably benign |
Het |
| Coq2 |
T |
A |
5: 100,668,023 (GRCm38) |
I97F |
possibly damaging |
Het |
| Cr2 |
A |
G |
1: 195,160,359 (GRCm38) |
|
probably benign |
Het |
| Ctgf |
T |
A |
10: 24,596,466 (GRCm38) |
C136S |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,826,377 (GRCm38) |
Y24C |
probably damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,191,693 (GRCm38) |
R974C |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 97,903,279 (GRCm38) |
V429A |
possibly damaging |
Het |
| Ddr1 |
G |
A |
17: 35,685,007 (GRCm38) |
T660I |
probably damaging |
Het |
| Dlg1 |
A |
C |
16: 31,796,864 (GRCm38) |
|
probably null |
Het |
| Dmbt1 |
T |
C |
7: 131,049,901 (GRCm38) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,393,836 (GRCm38) |
D2330E |
probably benign |
Het |
| Doc2a |
A |
G |
7: 126,848,811 (GRCm38) |
T5A |
probably benign |
Het |
| Dock2 |
G |
A |
11: 34,704,718 (GRCm38) |
|
probably benign |
Het |
| Dok4 |
T |
A |
8: 94,865,238 (GRCm38) |
Y290F |
probably damaging |
Het |
| Dopey1 |
A |
G |
9: 86,485,497 (GRCm38) |
D11G |
probably damaging |
Het |
| E230025N22Rik |
T |
C |
18: 36,688,934 (GRCm38) |
H235R |
probably benign |
Het |
| Ear6 |
A |
G |
14: 51,854,452 (GRCm38) |
D152G |
probably damaging |
Het |
| Ecscr |
T |
A |
18: 35,713,636 (GRCm38) |
|
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,760,010 (GRCm38) |
|
probably benign |
Het |
| Epha4 |
T |
A |
1: 77,388,541 (GRCm38) |
Q607L |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,972,063 (GRCm38) |
N947S |
probably benign |
Het |
| Flg |
A |
G |
3: 93,279,460 (GRCm38) |
E73G |
probably damaging |
Het |
| Fndc1 |
C |
T |
17: 7,784,341 (GRCm38) |
|
probably benign |
Het |
| Gad1-ps |
T |
C |
10: 99,444,992 (GRCm38) |
|
noncoding transcript |
Het |
| Gata6 |
A |
G |
18: 11,064,771 (GRCm38) |
T528A |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,244 (GRCm38) |
E278G |
probably benign |
Het |
| Gm13101 |
T |
A |
4: 143,965,083 (GRCm38) |
T357S |
possibly damaging |
Het |
| Gm20091 |
T |
A |
10: 96,409,002 (GRCm38) |
|
noncoding transcript |
Het |
| Gnb3 |
G |
A |
6: 124,835,696 (GRCm38) |
Q266* |
probably null |
Het |
| Grm3 |
A |
G |
5: 9,512,446 (GRCm38) |
V468A |
possibly damaging |
Het |
| Igf1r |
C |
T |
7: 68,207,826 (GRCm38) |
R1085C |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,320,106 (GRCm38) |
T2049A |
probably damaging |
Het |
| Jak3 |
A |
T |
8: 71,685,482 (GRCm38) |
D859V |
probably benign |
Het |
| Kcnb2 |
G |
T |
1: 15,712,884 (GRCm38) |
|
probably benign |
Het |
| Kcnh3 |
G |
A |
15: 99,240,958 (GRCm38) |
G858D |
probably benign |
Het |
| Kif1a |
C |
A |
1: 93,043,638 (GRCm38) |
R1006L |
probably damaging |
Het |
| Klhl23 |
C |
T |
2: 69,824,413 (GRCm38) |
A209V |
probably benign |
Het |
| Mapk13 |
T |
C |
17: 28,775,255 (GRCm38) |
Y104H |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,849,482 (GRCm38) |
S183P |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,919,706 (GRCm38) |
|
probably null |
Het |
| Mipol1 |
G |
A |
12: 57,414,411 (GRCm38) |
|
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,438,709 (GRCm38) |
T299A |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,976,469 (GRCm38) |
E578G |
probably benign |
Het |
| Mov10l1 |
G |
A |
15: 88,994,860 (GRCm38) |
C193Y |
possibly damaging |
Het |
| Mppe1 |
A |
G |
18: 67,237,477 (GRCm38) |
C50R |
probably damaging |
Het |
| Msantd1 |
C |
A |
5: 34,917,725 (GRCm38) |
R44S |
probably damaging |
Het |
| Myt1l |
T |
C |
12: 29,842,571 (GRCm38) |
V69A |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,464,692 (GRCm38) |
|
probably benign |
Het |
| Ncan |
A |
G |
8: 70,108,602 (GRCm38) |
S572P |
possibly damaging |
Het |
| Nck2 |
T |
C |
1: 43,569,144 (GRCm38) |
|
probably benign |
Het |
| Nemf |
A |
T |
12: 69,356,314 (GRCm38) |
D31E |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,249,262 (GRCm38) |
D93G |
possibly damaging |
Het |
| Nsmaf |
A |
T |
4: 6,419,930 (GRCm38) |
|
probably null |
Het |
| Nup98 |
T |
C |
7: 102,186,685 (GRCm38) |
T184A |
probably damaging |
Het |
| Olfr1415 |
A |
T |
1: 92,491,333 (GRCm38) |
C141S |
possibly damaging |
Het |
| Olfr46 |
A |
T |
7: 140,610,384 (GRCm38) |
N73Y |
probably damaging |
Het |
| Olfr522 |
A |
T |
7: 140,162,231 (GRCm38) |
S240T |
probably damaging |
Het |
| Oog2 |
C |
A |
4: 144,196,084 (GRCm38) |
Y306* |
probably null |
Het |
| Osmr |
A |
G |
15: 6,841,938 (GRCm38) |
|
probably benign |
Het |
| P2rx6 |
A |
G |
16: 17,568,298 (GRCm38) |
N275S |
probably benign |
Het |
| Papd4 |
A |
T |
13: 93,175,615 (GRCm38) |
|
probably benign |
Het |
| Pbxip1 |
G |
T |
3: 89,447,619 (GRCm38) |
G482W |
possibly damaging |
Het |
| Pcsk4 |
T |
G |
10: 80,325,334 (GRCm38) |
I249L |
probably damaging |
Het |
| Pou4f2 |
C |
T |
8: 78,435,662 (GRCm38) |
G104E |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,833,788 (GRCm38) |
R3763L |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,663,315 (GRCm38) |
I207F |
probably damaging |
Het |
| Rapgef3 |
A |
T |
15: 97,757,817 (GRCm38) |
|
probably benign |
Het |
| Rasgrp1 |
T |
G |
2: 117,284,947 (GRCm38) |
K685T |
probably benign |
Het |
| Rnf148 |
C |
T |
6: 23,654,238 (GRCm38) |
R253Q |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,132,227 (GRCm38) |
I241V |
possibly damaging |
Het |
| Rp1l1 |
T |
G |
14: 64,022,092 (GRCm38) |
V61G |
probably damaging |
Het |
| Scin |
A |
C |
12: 40,081,771 (GRCm38) |
S255A |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 101,035,624 (GRCm38) |
K1570* |
probably null |
Het |
| Sec14l4 |
A |
C |
11: 4,040,018 (GRCm38) |
M106L |
probably benign |
Het |
| Sec63 |
G |
A |
10: 42,798,799 (GRCm38) |
R226H |
probably benign |
Het |
| Sept2 |
T |
A |
1: 93,501,623 (GRCm38) |
N271K |
probably damaging |
Het |
| Serac1 |
G |
T |
17: 6,048,826 (GRCm38) |
|
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,630,140 (GRCm38) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,425,099 (GRCm38) |
D1284E |
probably benign |
Het |
| Slc11a2 |
A |
G |
15: 100,408,216 (GRCm38) |
L105P |
probably damaging |
Het |
| Slc1a3 |
T |
A |
15: 8,650,922 (GRCm38) |
T151S |
probably benign |
Het |
| Smarca2 |
G |
T |
19: 26,691,362 (GRCm38) |
K920N |
probably damaging |
Het |
| Sugp2 |
G |
A |
8: 70,258,948 (GRCm38) |
E964K |
probably damaging |
Het |
| Tas2r122 |
A |
C |
6: 132,711,815 (GRCm38) |
N38K |
probably benign |
Het |
| Tecpr1 |
G |
A |
5: 144,206,274 (GRCm38) |
R730C |
probably damaging |
Het |
| Themis3 |
G |
T |
17: 66,593,270 (GRCm38) |
N34K |
possibly damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,499,619 (GRCm38) |
T104A |
unknown |
Het |
| Trappc11 |
A |
G |
8: 47,503,412 (GRCm38) |
V843A |
probably benign |
Het |
| Trmt61a |
T |
A |
12: 111,678,927 (GRCm38) |
L99Q |
probably damaging |
Het |
| Trp53tg5 |
T |
A |
2: 164,471,481 (GRCm38) |
K91N |
probably damaging |
Het |
| Ufsp2 |
T |
C |
8: 45,992,150 (GRCm38) |
S339P |
probably damaging |
Het |
| Usp20 |
T |
A |
2: 31,004,450 (GRCm38) |
V126E |
probably damaging |
Het |
| Vmn1r75 |
T |
A |
7: 11,880,870 (GRCm38) |
N176K |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,816,053 (GRCm38) |
S780G |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,457,591 (GRCm38) |
|
probably null |
Het |
| Vps13d |
A |
T |
4: 145,045,095 (GRCm38) |
S4038T |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,022,651 (GRCm38) |
T421A |
probably damaging |
Het |
| Wdr78 |
T |
C |
4: 103,096,618 (GRCm38) |
N128S |
possibly damaging |
Het |
| Wdr95 |
C |
A |
5: 149,580,806 (GRCm38) |
L332I |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,336,091 (GRCm38) |
K181I |
probably damaging |
Het |
| Zc3h6 |
T |
A |
2: 129,017,223 (GRCm38) |
I1058N |
possibly damaging |
Het |
| Zfp423 |
T |
A |
8: 87,782,085 (GRCm38) |
I544F |
probably damaging |
Het |
| Zfp446 |
T |
A |
7: 12,979,589 (GRCm38) |
S161T |
possibly damaging |
Het |
| Zmym6 |
T |
A |
4: 127,123,369 (GRCm38) |
M889K |
probably benign |
Het |
|
| Other mutations in Cep350 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00764:Cep350
|
APN |
1 |
155,940,746 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL00821:Cep350
|
APN |
1 |
155,862,204 (GRCm38) |
missense |
probably benign |
|
|
IGL00837:Cep350
|
APN |
1 |
155,953,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00977:Cep350
|
APN |
1 |
155,932,865 (GRCm38) |
missense |
probably null |
0.99 |
|
IGL01544:Cep350
|
APN |
1 |
155,953,187 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01616:Cep350
|
APN |
1 |
155,953,247 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01695:Cep350
|
APN |
1 |
155,944,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01902:Cep350
|
APN |
1 |
155,861,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01977:Cep350
|
APN |
1 |
155,911,968 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02388:Cep350
|
APN |
1 |
155,953,753 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL02475:Cep350
|
APN |
1 |
155,862,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02528:Cep350
|
APN |
1 |
155,894,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02598:Cep350
|
APN |
1 |
155,862,967 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02676:Cep350
|
APN |
1 |
155,862,231 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02728:Cep350
|
APN |
1 |
155,953,222 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02744:Cep350
|
APN |
1 |
155,931,533 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02817:Cep350
|
APN |
1 |
155,928,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02892:Cep350
|
APN |
1 |
155,868,806 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL03156:Cep350
|
APN |
1 |
155,858,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03166:Cep350
|
APN |
1 |
155,863,600 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL03216:Cep350
|
APN |
1 |
155,860,627 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03268:Cep350
|
APN |
1 |
155,953,549 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL03358:Cep350
|
APN |
1 |
155,928,539 (GRCm38) |
missense |
probably benign |
|
|
primed
|
UTSW |
1 |
155,953,588 (GRCm38) |
missense |
probably damaging |
0.98 |
|
stoked
|
UTSW |
1 |
155,915,575 (GRCm38) |
missense |
probably benign |
0.03 |
|
NA:Cep350
|
UTSW |
1 |
155,958,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0060:Cep350
|
UTSW |
1 |
155,928,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0060:Cep350
|
UTSW |
1 |
155,928,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0066:Cep350
|
UTSW |
1 |
155,911,218 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0066:Cep350
|
UTSW |
1 |
155,911,218 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0172:Cep350
|
UTSW |
1 |
155,953,447 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0365:Cep350
|
UTSW |
1 |
155,906,571 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0472:Cep350
|
UTSW |
1 |
155,914,723 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0502:Cep350
|
UTSW |
1 |
155,900,883 (GRCm38) |
splice site |
probably null |
|
|
R0547:Cep350
|
UTSW |
1 |
155,901,435 (GRCm38) |
splice site |
probably null |
|
|
R0565:Cep350
|
UTSW |
1 |
155,961,195 (GRCm38) |
splice site |
probably benign |
|
|
R0607:Cep350
|
UTSW |
1 |
155,872,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0645:Cep350
|
UTSW |
1 |
155,940,712 (GRCm38) |
splice site |
probably null |
|
|
R0675:Cep350
|
UTSW |
1 |
155,959,753 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R0828:Cep350
|
UTSW |
1 |
155,953,246 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0863:Cep350
|
UTSW |
1 |
155,862,235 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0969:Cep350
|
UTSW |
1 |
155,940,826 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1102:Cep350
|
UTSW |
1 |
155,931,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1186:Cep350
|
UTSW |
1 |
155,875,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1552:Cep350
|
UTSW |
1 |
155,910,738 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1560:Cep350
|
UTSW |
1 |
155,929,079 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R1698:Cep350
|
UTSW |
1 |
155,953,358 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R1729:Cep350
|
UTSW |
1 |
155,911,981 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1735:Cep350
|
UTSW |
1 |
155,953,214 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1740:Cep350
|
UTSW |
1 |
155,928,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1783:Cep350
|
UTSW |
1 |
155,928,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1844:Cep350
|
UTSW |
1 |
155,848,628 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1848:Cep350
|
UTSW |
1 |
155,953,651 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1988:Cep350
|
UTSW |
1 |
155,933,104 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2008:Cep350
|
UTSW |
1 |
155,914,721 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2241:Cep350
|
UTSW |
1 |
155,958,556 (GRCm38) |
splice site |
probably null |
|
|
R2245:Cep350
|
UTSW |
1 |
155,879,020 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2402:Cep350
|
UTSW |
1 |
155,863,136 (GRCm38) |
missense |
probably benign |
|
|
R2566:Cep350
|
UTSW |
1 |
155,959,718 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3160:Cep350
|
UTSW |
1 |
155,863,164 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3162:Cep350
|
UTSW |
1 |
155,863,164 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3769:Cep350
|
UTSW |
1 |
155,953,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4035:Cep350
|
UTSW |
1 |
155,959,795 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4158:Cep350
|
UTSW |
1 |
155,932,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4160:Cep350
|
UTSW |
1 |
155,932,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4213:Cep350
|
UTSW |
1 |
155,935,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4483:Cep350
|
UTSW |
1 |
155,926,468 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4648:Cep350
|
UTSW |
1 |
155,902,598 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4694:Cep350
|
UTSW |
1 |
155,928,586 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4836:Cep350
|
UTSW |
1 |
155,928,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4839:Cep350
|
UTSW |
1 |
155,928,494 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4969:Cep350
|
UTSW |
1 |
155,860,279 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5014:Cep350
|
UTSW |
1 |
155,928,206 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5027:Cep350
|
UTSW |
1 |
155,933,354 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5144:Cep350
|
UTSW |
1 |
155,911,150 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5153:Cep350
|
UTSW |
1 |
155,935,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5165:Cep350
|
UTSW |
1 |
155,928,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5182:Cep350
|
UTSW |
1 |
155,858,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5445:Cep350
|
UTSW |
1 |
155,894,723 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5738:Cep350
|
UTSW |
1 |
155,866,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5809:Cep350
|
UTSW |
1 |
155,933,341 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5855:Cep350
|
UTSW |
1 |
155,953,762 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6103:Cep350
|
UTSW |
1 |
155,924,576 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6139:Cep350
|
UTSW |
1 |
155,953,279 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6285:Cep350
|
UTSW |
1 |
155,953,374 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6430:Cep350
|
UTSW |
1 |
155,894,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6446:Cep350
|
UTSW |
1 |
155,862,154 (GRCm38) |
missense |
probably benign |
|
|
R6520:Cep350
|
UTSW |
1 |
155,933,336 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6712:Cep350
|
UTSW |
1 |
155,858,106 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6940:Cep350
|
UTSW |
1 |
155,928,551 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7020:Cep350
|
UTSW |
1 |
155,928,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7056:Cep350
|
UTSW |
1 |
155,848,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7141:Cep350
|
UTSW |
1 |
155,914,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7215:Cep350
|
UTSW |
1 |
155,894,707 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7247:Cep350
|
UTSW |
1 |
155,910,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7272:Cep350
|
UTSW |
1 |
155,953,588 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7336:Cep350
|
UTSW |
1 |
155,862,276 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7361:Cep350
|
UTSW |
1 |
155,901,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7390:Cep350
|
UTSW |
1 |
155,866,087 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7402:Cep350
|
UTSW |
1 |
155,928,215 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7428:Cep350
|
UTSW |
1 |
155,894,619 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7440:Cep350
|
UTSW |
1 |
155,940,772 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7520:Cep350
|
UTSW |
1 |
155,915,629 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7529:Cep350
|
UTSW |
1 |
155,861,923 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7635:Cep350
|
UTSW |
1 |
155,879,021 (GRCm38) |
nonsense |
probably null |
|
|
R7806:Cep350
|
UTSW |
1 |
155,862,063 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8100:Cep350
|
UTSW |
1 |
155,953,402 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8192:Cep350
|
UTSW |
1 |
155,940,783 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8193:Cep350
|
UTSW |
1 |
155,862,079 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8351:Cep350
|
UTSW |
1 |
155,872,034 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8406:Cep350
|
UTSW |
1 |
155,922,418 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8451:Cep350
|
UTSW |
1 |
155,872,034 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8467:Cep350
|
UTSW |
1 |
155,915,575 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8543:Cep350
|
UTSW |
1 |
155,862,376 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8714:Cep350
|
UTSW |
1 |
155,860,731 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8810:Cep350
|
UTSW |
1 |
155,928,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8837:Cep350
|
UTSW |
1 |
155,861,772 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8933:Cep350
|
UTSW |
1 |
155,863,415 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9043:Cep350
|
UTSW |
1 |
155,897,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9050:Cep350
|
UTSW |
1 |
155,862,941 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9067:Cep350
|
UTSW |
1 |
155,861,739 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9105:Cep350
|
UTSW |
1 |
155,959,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9295:Cep350
|
UTSW |
1 |
155,862,305 (GRCm38) |
nonsense |
probably null |
|
|
R9304:Cep350
|
UTSW |
1 |
155,953,718 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9456:Cep350
|
UTSW |
1 |
155,868,711 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9575:Cep350
|
UTSW |
1 |
155,875,367 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9715:Cep350
|
UTSW |
1 |
155,875,361 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9749:Cep350
|
UTSW |
1 |
155,953,239 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9758:Cep350
|
UTSW |
1 |
155,894,687 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9767:Cep350
|
UTSW |
1 |
155,863,272 (GRCm38) |
missense |
probably benign |
0.01 |
|
RF020:Cep350
|
UTSW |
1 |
155,915,478 (GRCm38) |
missense |
probably benign |
0.34 |
|
X0018:Cep350
|
UTSW |
1 |
155,953,286 (GRCm38) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGTTCAAGGTCCAGAAGCATTC -3'
(R):5'- AGGGCTCCATCTAAACTTGCTGC -3'
Sequencing Primer
(F):5'- AGGTCCAGAAGCATTCTTGCTATG -3'
(R):5'- CTTTGGGACACATTGTACATGG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation