Mutagenetix > Incidental Mutation

Incidental Mutation 'R1270:Cep250'

151265

Institutional Source

Beutler Lab

Gene Symbol

Cep250

Ensembl Gene

ENSMUSG00000038241

Gene Name

centrosomal protein 250

Synonyms

B230210E21Rik, Cep2, Inmp

MMRRC Submission

039336-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1270 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

155798378-155840820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155832601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1509 (V1509I)

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: V1508I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000038255
Gene: ENSMUSG00000038241
AA Change: V1508I

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: V1488I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000091988
Gene: ENSMUSG00000038241
AA Change: V1488I

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: V1509I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105248
Gene: ENSMUSG00000038241
AA Change: V1509I

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

noncoding transcript
Transcript: ENSMUST00000148191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149905

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

Meta Mutation Damage Score

0.0776

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (36/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	T	11: 94,248,210 (GRCm39)	R1129Q	probably damaging	Het
Adam7	T	A	14: 68,765,118 (GRCm39)	K93M	probably damaging	Het
Aldh1a2	T	G	9: 71,188,988 (GRCm39)	L301V	probably benign	Het
Alg9	A	G	9: 50,698,872 (GRCm39)		probably benign	Het
Aspg	C	T	12: 112,082,881 (GRCm39)	T187I	probably damaging	Het
Bltp1	T	A	3: 37,006,333 (GRCm39)	H1662Q	probably damaging	Het
C4a	A	G	17: 35,033,505 (GRCm39)		noncoding transcript	Het
Cdh2	T	G	18: 16,760,614 (GRCm39)		probably benign	Het
Ceacam1	T	C	7: 25,165,739 (GRCm39)		probably null	Het
D130043K22Rik	T	C	13: 25,041,321 (GRCm39)	S248P	probably benign	Het
Dgkd	A	T	1: 87,861,847 (GRCm39)	M801L	probably damaging	Het
Edc4	A	G	8: 106,617,896 (GRCm39)	E1152G	possibly damaging	Het
Enkd1	A	G	8: 106,430,533 (GRCm39)	I334T	probably damaging	Het
Gli3	C	T	13: 15,898,329 (GRCm39)	A803V	probably benign	Het
Glrx3	A	G	7: 137,055,143 (GRCm39)	N95S	probably benign	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Kank2	A	T	9: 21,684,056 (GRCm39)	N724K	probably damaging	Het
Kctd20	A	G	17: 29,185,905 (GRCm39)	D416G	possibly damaging	Het
Lmtk3	A	G	7: 45,443,252 (GRCm39)	E645G	probably damaging	Het
Mrgpra9	A	T	7: 46,902,531 (GRCm39)		probably null	Het
Muc1	T	A	3: 89,139,414 (GRCm39)	Y605N	probably damaging	Het
Or4a47	C	T	2: 89,665,666 (GRCm39)	V208M	possibly damaging	Het
Or8g17	A	C	9: 38,930,543 (GRCm39)	I98R	possibly damaging	Het
Prx	T	A	7: 27,218,355 (GRCm39)	I952N	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Skint5	A	T	4: 113,799,856 (GRCm39)	Y90*	probably null	Het
Swt1	A	T	1: 151,260,142 (GRCm39)	N752K	probably benign	Het
Taar1	T	C	10: 23,796,431 (GRCm39)	V43A	probably damaging	Het
Tenm2	T	C	11: 35,932,486 (GRCm39)	N1702D	probably damaging	Het
Tff2	C	T	17: 31,363,143 (GRCm39)		probably null	Het
Trim2	G	A	3: 84,074,984 (GRCm39)	A686V	probably damaging	Het
Ube2q2l	A	T	6: 136,378,785 (GRCm39)	I15N	probably 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
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
R7290:Cep250	UTSW	2	155,834,682 (GRCm39)	missense	probably benign	0.03
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'- TGGCACAGACCCTGTCTAACAGAG -3'
(R):5'- GTGATGGCTTTCCTCCAGTTCCAG -3'

Sequencing Primer
(F):5'- CCTGTCTAACAGAGAGCGG -3'
(R):5'- GCATTCCAGTGTCCCCAG -3'

Posted On

2014-01-29