Incidental Mutation 'R7290:Cep250'
| ID |
566304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep250
|
| Ensembl Gene |
ENSMUSG00000038241 |
| Gene Name |
centrosomal protein 250 |
| Synonyms |
B230210E21Rik, Cep2, Inmp |
| MMRRC Submission |
045362-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155798378-155840820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155834682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 2202
(Q2202H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039994]
[ENSMUST00000094421]
[ENSMUST00000109619]
[ENSMUST00000124812]
[ENSMUST00000128683]
|
| AlphaFold |
Q60952 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039994
AA Change: Q2201H
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000038255
Gene: ENSMUSG00000038241
AA Change: Q2201H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rootletin
|
38 |
215 |
4.2e-56 |
PFAM |
|
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
327 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
444 |
460 |
1.47e-18 |
PROSPERO |
|
internal_repeat_1
|
465 |
481 |
1.47e-18 |
PROSPERO |
|
low complexity region
|
495 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
990 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1043 |
1053 |
N/A |
INTRINSIC |
|
low complexity region
|
1138 |
1143 |
N/A |
INTRINSIC |
|
low complexity region
|
1182 |
1195 |
N/A |
INTRINSIC |
|
coiled coil region
|
1257 |
1687 |
N/A |
INTRINSIC |
|
low complexity region
|
1872 |
1895 |
N/A |
INTRINSIC |
|
low complexity region
|
1919 |
1933 |
N/A |
INTRINSIC |
|
low complexity region
|
1941 |
1960 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
2002 |
2052 |
3.9e-6 |
PROSPERO |
|
coiled coil region
|
2068 |
2169 |
N/A |
INTRINSIC |
|
coiled coil region
|
2196 |
2217 |
N/A |
INTRINSIC |
|
coiled coil region
|
2251 |
2310 |
N/A |
INTRINSIC |
|
low complexity region
|
2325 |
2338 |
N/A |
INTRINSIC |
|
coiled coil region
|
2340 |
2366 |
N/A |
INTRINSIC |
|
low complexity region
|
2379 |
2388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094421
AA Change: Q2181H
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000091988
Gene: ENSMUSG00000038241
AA Change: Q2181H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rootletin
|
38 |
215 |
5.4e-56 |
PFAM |
|
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
357 |
N/A |
INTRINSIC |
|
coiled coil region
|
400 |
1165 |
N/A |
INTRINSIC |
|
coiled coil region
|
1237 |
1667 |
N/A |
INTRINSIC |
|
low complexity region
|
1852 |
1875 |
N/A |
INTRINSIC |
|
low complexity region
|
1899 |
1913 |
N/A |
INTRINSIC |
|
low complexity region
|
1921 |
1940 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1982 |
2032 |
3.35e-6 |
PROSPERO |
|
coiled coil region
|
2048 |
2149 |
N/A |
INTRINSIC |
|
coiled coil region
|
2176 |
2197 |
N/A |
INTRINSIC |
|
coiled coil region
|
2231 |
2290 |
N/A |
INTRINSIC |
|
low complexity region
|
2305 |
2318 |
N/A |
INTRINSIC |
|
coiled coil region
|
2320 |
2346 |
N/A |
INTRINSIC |
|
low complexity region
|
2359 |
2368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109619
AA Change: Q2202H
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000105248
Gene: ENSMUSG00000038241
AA Change: Q2202H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rootletin
|
38 |
214 |
4.1e-60 |
PFAM |
|
low complexity region
|
215 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
357 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
445 |
461 |
1.51e-18 |
PROSPERO |
|
internal_repeat_1
|
466 |
482 |
1.51e-18 |
PROSPERO |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
991 |
1008 |
N/A |
INTRINSIC |
|
low complexity region
|
1044 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1139 |
1144 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1196 |
N/A |
INTRINSIC |
|
coiled coil region
|
1258 |
1688 |
N/A |
INTRINSIC |
|
low complexity region
|
1873 |
1896 |
N/A |
INTRINSIC |
|
low complexity region
|
1920 |
1934 |
N/A |
INTRINSIC |
|
low complexity region
|
1942 |
1961 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
2003 |
2053 |
3.95e-6 |
PROSPERO |
|
coiled coil region
|
2069 |
2170 |
N/A |
INTRINSIC |
|
coiled coil region
|
2197 |
2218 |
N/A |
INTRINSIC |
|
coiled coil region
|
2252 |
2311 |
N/A |
INTRINSIC |
|
low complexity region
|
2326 |
2339 |
N/A |
INTRINSIC |
|
coiled coil region
|
2341 |
2367 |
N/A |
INTRINSIC |
|
low complexity region
|
2380 |
2389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124812
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128683
|
| SMART Domains |
Protein: ENSMUSP00000119845
Gene: ENSMUSG00000038241
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
2 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156355
|
| SMART Domains |
Protein: ENSMUSP00000122223
Gene: ENSMUSG00000038241
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
12 |
47 |
N/A |
INTRINSIC |
|
coiled coil region
|
119 |
223 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,921,714 (GRCm39) |
M1447L |
probably benign |
Het |
| Adam30 |
G |
A |
3: 98,070,257 (GRCm39) |
V697I |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,277,452 (GRCm39) |
N689D |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,813,906 (GRCm39) |
K753R |
probably benign |
Het |
| Adra2a |
T |
C |
19: 54,034,835 (GRCm39) |
F64L |
probably damaging |
Het |
| Ankub1 |
A |
G |
3: 57,580,345 (GRCm39) |
L104P |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,988,719 (GRCm39) |
V10A |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,962,047 (GRCm39) |
N1165K |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,880,060 (GRCm39) |
D279V |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,616,099 (GRCm38) |
D310E |
probably damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,615 (GRCm39) |
I249V |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,212,620 (GRCm39) |
N1598S |
probably benign |
Het |
| Ces5a |
T |
A |
8: 94,261,311 (GRCm39) |
T35S |
probably damaging |
Het |
| Cnot11 |
G |
A |
1: 39,579,020 (GRCm39) |
W295* |
probably null |
Het |
| Cntnap5a |
G |
T |
1: 116,149,619 (GRCm39) |
W565L |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,569,468 (GRCm39) |
E148G |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,455,739 (GRCm39) |
D955N |
probably benign |
Het |
| Erbin |
G |
A |
13: 103,998,834 (GRCm39) |
T184I |
probably damaging |
Het |
| Fam20c |
G |
T |
5: 138,793,309 (GRCm39) |
G477W |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fgfr4 |
T |
C |
13: 55,309,262 (GRCm39) |
V433A |
probably benign |
Het |
| Gal3st1 |
A |
T |
11: 3,948,093 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Gfra2 |
T |
C |
14: 71,163,380 (GRCm39) |
F221S |
probably damaging |
Het |
| Gm19965 |
G |
A |
1: 116,748,921 (GRCm39) |
V201M |
|
Het |
| Gnb1l |
A |
T |
16: 18,382,806 (GRCm39) |
T282S |
probably benign |
Het |
| Gpr171 |
A |
T |
3: 59,005,147 (GRCm39) |
N209K |
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,761,739 (GRCm39) |
T547I |
probably damaging |
Het |
| Ifi214 |
A |
T |
1: 173,357,097 (GRCm39) |
V2E |
probably benign |
Het |
| Ighv1-71 |
T |
C |
12: 115,706,267 (GRCm39) |
M1V |
probably null |
Het |
| Itm2b |
C |
T |
14: 73,605,785 (GRCm39) |
G67D |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,851,432 (GRCm39) |
C995* |
probably null |
Het |
| Kifc2 |
A |
T |
15: 76,544,904 (GRCm39) |
Y13F |
probably damaging |
Het |
| Lamb1 |
T |
A |
12: 31,315,595 (GRCm39) |
V59D |
probably benign |
Het |
| Lhx1 |
A |
T |
11: 84,412,703 (GRCm39) |
D163E |
probably damaging |
Het |
| Lrrc1 |
A |
T |
9: 77,365,121 (GRCm39) |
Y187N |
probably benign |
Het |
| Map3k1 |
C |
A |
13: 111,904,645 (GRCm39) |
V380F |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,028,511 (GRCm39) |
D283G |
probably damaging |
Het |
| Mccc2 |
G |
T |
13: 100,091,207 (GRCm39) |
A430D |
probably damaging |
Het |
| Mest |
A |
G |
6: 30,747,158 (GRCm39) |
N340S |
unknown |
Het |
| Mms22l |
T |
C |
4: 24,517,139 (GRCm39) |
L340P |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,087,808 (GRCm39) |
Y110C |
possibly damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,502,063 (GRCm39) |
T706A |
probably benign |
Het |
| Muc21 |
G |
A |
17: 35,929,761 (GRCm39) |
A1475V |
unknown |
Het |
| Ncstn |
A |
G |
1: 171,900,373 (GRCm39) |
F234S |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,202,777 (GRCm39) |
|
probably null |
Het |
| Nup37 |
T |
G |
10: 88,010,356 (GRCm39) |
C217G |
probably damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,694 (GRCm39) |
L7P |
unknown |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,206 (GRCm39) |
N820S |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,587,225 (GRCm39) |
F117Y |
possibly damaging |
Het |
| Phip |
A |
T |
9: 82,753,346 (GRCm39) |
F1799L |
possibly damaging |
Het |
| Ppm1f |
T |
A |
16: 16,728,819 (GRCm39) |
F74I |
probably benign |
Het |
| Prpf8 |
C |
A |
11: 75,384,783 (GRCm39) |
N775K |
possibly damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,731,693 (GRCm39) |
I167T |
possibly damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,501,892 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
C |
A |
8: 91,841,669 (GRCm39) |
A955D |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,420,146 (GRCm39) |
S366P |
possibly damaging |
Het |
| Rit2 |
A |
T |
18: 31,376,221 (GRCm39) |
M38K |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,801,408 (GRCm39) |
M1011V |
probably benign |
Het |
| Senp6 |
A |
T |
9: 80,043,797 (GRCm39) |
E809D |
probably benign |
Het |
| Stard3 |
G |
A |
11: 98,269,045 (GRCm39) |
|
probably null |
Het |
| Taar3 |
T |
G |
10: 23,826,298 (GRCm39) |
Y281* |
probably null |
Het |
| Tacc2 |
G |
T |
7: 130,331,103 (GRCm39) |
K352N |
probably benign |
Het |
| Tamalin |
G |
A |
15: 101,129,419 (GRCm39) |
S234N |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,160,610 (GRCm39) |
I124N |
probably damaging |
Het |
| Tdpoz4 |
G |
A |
3: 93,704,155 (GRCm39) |
V151I |
not run |
Het |
| Tenm2 |
A |
G |
11: 35,914,298 (GRCm39) |
L2413P |
probably damaging |
Het |
| Tgm6 |
T |
C |
2: 129,983,110 (GRCm39) |
V233A |
probably damaging |
Het |
| Tlx3 |
G |
A |
11: 33,153,514 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Trim23 |
C |
A |
13: 104,323,941 (GRCm39) |
H133Q |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,640,356 (GRCm39) |
D1421V |
probably damaging |
Het |
| Vmn1r172 |
A |
G |
7: 23,360,048 (GRCm39) |
N311S |
unknown |
Het |
| Vps25 |
T |
A |
11: 101,149,775 (GRCm39) |
L153Q |
probably damaging |
Het |
| Wbp1l |
G |
T |
19: 46,611,876 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,970,558 (GRCm39) |
I291V |
possibly damaging |
Het |
| Zfp2 |
A |
G |
11: 50,791,570 (GRCm39) |
C158R |
probably damaging |
Het |
| Zfp786 |
G |
A |
6: 47,796,929 (GRCm39) |
P670S |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,916,442 (GRCm39) |
R339H |
possibly damaging |
Het |
| Zmym6 |
C |
T |
4: 127,017,294 (GRCm39) |
A1025V |
possibly damaging |
Het |
|
| Other mutations in Cep250 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Cep250
|
APN |
2 |
155,833,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01077:Cep250
|
APN |
2 |
155,804,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01084:Cep250
|
APN |
2 |
155,840,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01400:Cep250
|
APN |
2 |
155,840,211 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01570:Cep250
|
APN |
2 |
155,809,583 (GRCm39) |
splice site |
probably benign |
|
|
IGL01583:Cep250
|
APN |
2 |
155,818,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01590:Cep250
|
APN |
2 |
155,834,237 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01647:Cep250
|
APN |
2 |
155,825,296 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01959:Cep250
|
APN |
2 |
155,825,279 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02066:Cep250
|
APN |
2 |
155,818,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02219:Cep250
|
APN |
2 |
155,833,514 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02322:Cep250
|
APN |
2 |
155,832,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02728:Cep250
|
APN |
2 |
155,825,198 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02955:Cep250
|
APN |
2 |
155,817,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03369:Cep250
|
APN |
2 |
155,832,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0366:Cep250
|
UTSW |
2 |
155,830,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0403:Cep250
|
UTSW |
2 |
155,834,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0441:Cep250
|
UTSW |
2 |
155,813,924 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0482:Cep250
|
UTSW |
2 |
155,806,894 (GRCm39) |
splice site |
probably benign |
|
|
R0507:Cep250
|
UTSW |
2 |
155,834,452 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0614:Cep250
|
UTSW |
2 |
155,812,017 (GRCm39) |
nonsense |
probably null |
|
|
R0855:Cep250
|
UTSW |
2 |
155,806,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Cep250
|
UTSW |
2 |
155,806,209 (GRCm39) |
splice site |
probably benign |
|
|
R1137:Cep250
|
UTSW |
2 |
155,832,760 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1270:Cep250
|
UTSW |
2 |
155,832,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1313:Cep250
|
UTSW |
2 |
155,813,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1313:Cep250
|
UTSW |
2 |
155,813,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1470:Cep250
|
UTSW |
2 |
155,832,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1470:Cep250
|
UTSW |
2 |
155,832,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1703:Cep250
|
UTSW |
2 |
155,807,466 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1705:Cep250
|
UTSW |
2 |
155,805,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Cep250
|
UTSW |
2 |
155,815,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1796:Cep250
|
UTSW |
2 |
155,834,107 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1897:Cep250
|
UTSW |
2 |
155,818,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Cep250
|
UTSW |
2 |
155,827,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1958:Cep250
|
UTSW |
2 |
155,818,301 (GRCm39) |
splice site |
probably null |
|
|
R1974:Cep250
|
UTSW |
2 |
155,831,424 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2015:Cep250
|
UTSW |
2 |
155,823,373 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2033:Cep250
|
UTSW |
2 |
155,812,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2224:Cep250
|
UTSW |
2 |
155,833,737 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2266:Cep250
|
UTSW |
2 |
155,818,090 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2278:Cep250
|
UTSW |
2 |
155,834,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2332:Cep250
|
UTSW |
2 |
155,832,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2364:Cep250
|
UTSW |
2 |
155,834,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Cep250
|
UTSW |
2 |
155,834,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2367:Cep250
|
UTSW |
2 |
155,834,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2385:Cep250
|
UTSW |
2 |
155,816,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2830:Cep250
|
UTSW |
2 |
155,825,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2895:Cep250
|
UTSW |
2 |
155,834,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2965:Cep250
|
UTSW |
2 |
155,836,798 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2966:Cep250
|
UTSW |
2 |
155,836,798 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3016:Cep250
|
UTSW |
2 |
155,833,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3052:Cep250
|
UTSW |
2 |
155,832,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3424:Cep250
|
UTSW |
2 |
155,823,381 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3930:Cep250
|
UTSW |
2 |
155,834,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4085:Cep250
|
UTSW |
2 |
155,834,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4087:Cep250
|
UTSW |
2 |
155,834,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Cep250
|
UTSW |
2 |
155,834,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4090:Cep250
|
UTSW |
2 |
155,834,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4110:Cep250
|
UTSW |
2 |
155,834,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Cep250
|
UTSW |
2 |
155,833,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Cep250
|
UTSW |
2 |
155,803,973 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4721:Cep250
|
UTSW |
2 |
155,812,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Cep250
|
UTSW |
2 |
155,830,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Cep250
|
UTSW |
2 |
155,804,848 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5090:Cep250
|
UTSW |
2 |
155,818,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5744:Cep250
|
UTSW |
2 |
155,823,394 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5775:Cep250
|
UTSW |
2 |
155,811,294 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5986:Cep250
|
UTSW |
2 |
155,821,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Cep250
|
UTSW |
2 |
155,836,503 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6152:Cep250
|
UTSW |
2 |
155,823,358 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6823:Cep250
|
UTSW |
2 |
155,823,379 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6859:Cep250
|
UTSW |
2 |
155,834,446 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6900:Cep250
|
UTSW |
2 |
155,838,190 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7107:Cep250
|
UTSW |
2 |
155,837,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7131:Cep250
|
UTSW |
2 |
155,806,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Cep250
|
UTSW |
2 |
155,815,375 (GRCm39) |
nonsense |
probably null |
|
|
R7241:Cep250
|
UTSW |
2 |
155,833,472 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7264:Cep250
|
UTSW |
2 |
155,821,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7367:Cep250
|
UTSW |
2 |
155,811,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7397:Cep250
|
UTSW |
2 |
155,823,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7768:Cep250
|
UTSW |
2 |
155,827,929 (GRCm39) |
missense |
|
|
|
R7823:Cep250
|
UTSW |
2 |
155,807,336 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8152:Cep250
|
UTSW |
2 |
155,811,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8331:Cep250
|
UTSW |
2 |
155,832,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8559:Cep250
|
UTSW |
2 |
155,834,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8972:Cep250
|
UTSW |
2 |
155,812,042 (GRCm39) |
missense |
unknown |
|
|
R8973:Cep250
|
UTSW |
2 |
155,812,042 (GRCm39) |
missense |
unknown |
|
|
R8974:Cep250
|
UTSW |
2 |
155,812,042 (GRCm39) |
missense |
unknown |
|
|
R8975:Cep250
|
UTSW |
2 |
155,812,042 (GRCm39) |
missense |
unknown |
|
|
R8976:Cep250
|
UTSW |
2 |
155,812,042 (GRCm39) |
missense |
unknown |
|
|
R9072:Cep250
|
UTSW |
2 |
155,834,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9123:Cep250
|
UTSW |
2 |
155,812,042 (GRCm39) |
missense |
unknown |
|
|
R9127:Cep250
|
UTSW |
2 |
155,812,042 (GRCm39) |
missense |
unknown |
|
|
R9128:Cep250
|
UTSW |
2 |
155,812,042 (GRCm39) |
missense |
unknown |
|
|
R9167:Cep250
|
UTSW |
2 |
155,828,920 (GRCm39) |
missense |
|
|
|
R9189:Cep250
|
UTSW |
2 |
155,818,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9198:Cep250
|
UTSW |
2 |
155,830,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9227:Cep250
|
UTSW |
2 |
155,812,042 (GRCm39) |
missense |
unknown |
|
|
R9228:Cep250
|
UTSW |
2 |
155,812,042 (GRCm39) |
missense |
unknown |
|
|
R9292:Cep250
|
UTSW |
2 |
155,832,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9516:Cep250
|
UTSW |
2 |
155,833,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9723:Cep250
|
UTSW |
2 |
155,823,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9760:Cep250
|
UTSW |
2 |
155,818,473 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0061:Cep250
|
UTSW |
2 |
155,803,905 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Cep250
|
UTSW |
2 |
155,818,387 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCACAACAGGAGTTAGAGC -3'
(R):5'- AACAGTTTTGTGCCCACTCTTG -3'
Sequencing Primer
(F):5'- TTAGAGCGGCTGCAGACTG -3'
(R):5'- AGCACACTGGAGTTCCTCTATCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation