Mutagenetix > Incidental Mutation

Incidental Mutation 'R6900:Cep250'

538482

Institutional Source

Beutler Lab

Gene Symbol

Cep250

Ensembl Gene

ENSMUSG00000038241

Gene Name

centrosomal protein 250

Synonyms

B230210E21Rik, Cep2, Inmp

MMRRC Submission

044994-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155798378-155840820 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 155838190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039994] [ENSMUST00000086145] [ENSMUST00000094421] [ENSMUST00000109617] [ENSMUST00000109619] [ENSMUST00000124812]

AlphaFold

Q60952

Predicted Effect

probably null
Transcript: ENSMUST00000039994

SMART Domains

Protein: ENSMUSP00000038255
Gene: ENSMUSG00000038241

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: ENSMUST00000086145

Predicted Effect

probably null
Transcript: ENSMUST00000094421

SMART Domains

Protein: ENSMUSP00000091988
Gene: ENSMUSG00000038241

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: ENSMUST00000109617

SMART Domains

Protein: ENSMUSP00000105246
Gene: ENSMUSG00000074646

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109619

SMART Domains

Protein: ENSMUSP00000105248
Gene: ENSMUSG00000038241

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (32/32)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	T	C	8: 78,037,491 (GRCm39)	D579G	probably damaging	Het
Cc2d2b	A	G	19: 40,813,518 (GRCm39)	S1333G	probably null	Het
Chd3	T	C	11: 69,245,271 (GRCm39)	D1149G	possibly damaging	Het
Dnah7a	A	G	1: 53,701,510 (GRCm39)	L215P	probably damaging	Het
Fbn2	T	C	18: 58,209,903 (GRCm39)	M993V	probably benign	Het
Ggt5	A	T	10: 75,446,371 (GRCm39)	Q523L	possibly damaging	Het
Hcn1	A	G	13: 117,793,363 (GRCm39)	N205S	probably benign	Het
Htr1b	A	T	9: 81,513,623 (GRCm39)	I328N	probably damaging	Het
Itgav	T	A	2: 83,633,591 (GRCm39)	F980Y	probably damaging	Het
Kbtbd2	A	G	6: 56,757,008 (GRCm39)	S243P	probably damaging	Het
Kcnd2	A	G	6: 21,216,587 (GRCm39)	N97S	probably damaging	Het
Kifbp	T	C	10: 62,394,908 (GRCm39)	Y578C	probably damaging	Het
Lars1	T	C	18: 42,367,675 (GRCm39)	K468E	probably benign	Het
Map3k1	T	C	13: 111,890,350 (GRCm39)	N1283S	probably benign	Het
Mapk8ip3	A	T	17: 25,128,097 (GRCm39)		probably null	Het
Mroh2b	A	G	15: 4,938,469 (GRCm39)	I253V	probably benign	Het
Nup98	A	G	7: 101,835,169 (GRCm39)	F228S	probably damaging	Het
Or4k1	A	T	14: 50,377,295 (GRCm39)	V267E	possibly damaging	Het
Pdzd2	A	G	15: 12,374,123 (GRCm39)	F2004S	probably benign	Het
Pkhd1	A	T	1: 20,604,925 (GRCm39)	L1130Q	probably benign	Het
Pparg	G	T	6: 115,449,949 (GRCm39)	R286L	possibly damaging	Het
Ppp1r16a	A	G	15: 76,575,923 (GRCm39)	S96G	probably damaging	Het
Psg29	C	T	7: 16,938,857 (GRCm39)	Q44*	probably null	Het
Rgs22	A	G	15: 36,010,893 (GRCm39)	F1227S	possibly damaging	Het
Saxo1	T	C	4: 86,363,571 (GRCm39)	D304G	possibly damaging	Het
Sec14l1	T	C	11: 117,008,049 (GRCm39)	Y12H	probably damaging	Het
Sh3bp4	A	G	1: 89,073,489 (GRCm39)	N779S	probably benign	Het
Sin3a	T	C	9: 57,014,858 (GRCm39)	V693A	probably damaging	Het
Teddm1b	G	A	1: 153,750,956 (GRCm39)	C255Y	probably benign	Het
Ttk	T	A	9: 83,754,083 (GRCm39)	S819T	probably damaging	Het
Zfp362	C	T	4: 128,679,808 (GRCm39)	C273Y	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
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
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'- ATTGAGCGTCAGTCTGAGC -3'
(R):5'- TCCCAGAAAGATGGACGTTCTC -3'

Sequencing Primer
(F):5'- GTCAGTCTGAGCTCAGGTAC -3'
(R):5'- ACGTTCTCTGGATGCCAAAG -3'

Posted On

2018-11-06