Incidental Mutation 'R1313:Cep250'
ID | 175048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep250
|
Ensembl Gene |
ENSMUSG00000038241 |
Gene Name | centrosomal protein 250 |
Synonyms | Cep2, Inmp, B230210E21Rik |
MMRRC Submission |
039379-MU
|
Accession Numbers | |
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | R1313 (G1)
|
Quality Score | 225 |
Status |
Not validated
|
Chromosome | 2 |
Chromosomal Location | 155956458-155998900 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
C to T
at 155972079 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 589
(A589V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039994]
[ENSMUST00000094421]
[ENSMUST00000109618]
[ENSMUST00000109619]
[ENSMUST00000124812]
[ENSMUST00000151569]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039994
AA Change: A589V
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038255 Gene: ENSMUSG00000038241 AA Change: A589V
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: A569V
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000091988 Gene: ENSMUSG00000038241 AA Change: A569V
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: ENSMUST00000109618
|
SMART Domains |
Protein: ENSMUSP00000105247 Gene: ENSMUSG00000038241
Domain | Start | End | E-Value | Type |
Pfam:Rootletin
|
38 |
215 |
2.3e-57 |
PFAM |
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
317 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109619
AA Change: A590V
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000105248 Gene: ENSMUSG00000038241 AA Change: A590V
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 |
noncoding transcript
Transcript: ENSMUST00000148191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149905
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151569
AA Change: A589V
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000114426 Gene: ENSMUSG00000038241 AA Change: A589V
Domain | Start | End | E-Value | Type |
Pfam:Rootletin
|
38 |
215 |
1.3e-56 |
PFAM |
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
327 |
N/A |
INTRINSIC |
internal_repeat_1
|
444 |
460 |
1.16e-14 |
PROSPERO |
internal_repeat_1
|
465 |
481 |
1.16e-14 |
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.7%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610507B11Rik |
A |
G |
11: 78,265,672 |
T226A |
probably benign |
Het |
Ankle1 |
A |
G |
8: 71,407,213 |
E145G |
possibly damaging |
Het |
C1qtnf12 |
G |
A |
4: 155,965,874 |
E223K |
probably damaging |
Het |
Clhc1 |
A |
G |
11: 29,571,678 |
I404V |
probably benign |
Het |
Ddi1 |
T |
C |
9: 6,265,769 |
E200G |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 49,878,483 |
S1236P |
probably damaging |
Het |
Dpyd |
G |
T |
3: 118,899,161 |
|
probably benign |
Het |
Ercc6 |
C |
T |
14: 32,552,720 |
|
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,417,778 |
A488T |
probably damaging |
Het |
Hnrnpul1 |
G |
T |
7: 25,722,916 |
|
probably benign |
Het |
Ints1 |
T |
C |
5: 139,762,906 |
T1049A |
probably benign |
Het |
Lilrb4 |
C |
T |
10: 51,480,736 |
T6I |
probably benign |
Het |
Mocs1 |
A |
T |
17: 49,454,269 |
T464S |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,885,129 |
S816P |
probably damaging |
Het |
Ogfr |
T |
C |
2: 180,594,630 |
L336P |
probably benign |
Het |
Olfr473 |
A |
T |
7: 107,933,768 |
M83L |
probably benign |
Het |
Pet112l |
A |
G |
3: 85,653,826 |
I550V |
probably benign |
Het |
Psapl1 |
C |
A |
5: 36,205,266 |
Q401K |
probably benign |
Het |
Rps26-ps1 |
T |
A |
8: 107,439,457 |
|
probably benign |
Het |
Sh3rf3 |
C |
A |
10: 59,071,999 |
Q450K |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,281,654 |
V830M |
possibly damaging |
Het |
Stat1 |
C |
T |
1: 52,156,006 |
T720I |
probably damaging |
Het |
Vav1 |
G |
A |
17: 57,309,498 |
|
probably benign |
Het |
|
Other mutations in Cep250 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGTCCTTCCCTCTTAGTCAGGAGAC -3'
(R):5'- GGCCACAGATGGCAAAAGGTATTGAA -3'
Sequencing Primer
(F):5'- GCCTAGAAGGGGAGTTACTGAA -3'
(R):5'- ggaagtgggggggaggg -3'
|
Posted On | 2014-04-24 |