Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02728:Cep350'

305317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep350

Ensembl Gene

ENSMUSG00000033671

Gene Name

centrosomal protein 350

Synonyms

6430546F08Rik, 4933409L06Rik

Accession Numbers

Genbank: NM_001039184.1; Ensembl: ENSMUST00000138762, ENSMUST00000124495, ENSMUST00000078888

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL02728

Quality Score

Status

Chromosome

Chromosomal Location

155844964-155973255 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155953222 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 312 (N312S)

Ref Sequence

ENSEMBL: ENSMUSP00000120085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124495] [ENSMUST00000138762]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104231

Predicted Effect

probably benign
Transcript: ENSMUST00000124495
AA Change: N252S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000138762
AA Change: N312S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: N312S

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

Coding Region Coverage

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,191,827		probably benign	Het
Als2	A	G	1: 59,196,347	V726A	probably benign	Het
Apba1	G	A	19: 23,944,905	G779E	possibly damaging	Het
Atr	T	A	9: 95,936,475	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,826,503	K566E	probably damaging	Het
Btd	T	C	14: 31,667,362	F347L	probably benign	Het
Btg2	T	C	1: 134,078,905		probably benign	Het
Cblb	T	A	16: 52,183,309	S717T	probably benign	Het
Cep250	T	A	2: 155,983,278		probably benign	Het
Clasp1	A	T	1: 118,602,377	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,984,104	C2906S	probably benign	Het
Csmd1	C	T	8: 15,999,779		probably null	Het
Cspg4	T	A	9: 56,886,481	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,072,575	D469V	probably damaging	Het
Dhh	A	T	15: 98,894,311		probably null	Het
Dhrs3	A	G	4: 144,920,072	R231G	probably damaging	Het
Disp3	A	G	4: 148,272,038	S122P	probably damaging	Het
Dnah1	T	C	14: 31,283,998	I2275V	probably benign	Het
Dock8	A	C	19: 25,132,220	N922T	probably benign	Het
Eef1d	A	G	15: 75,903,096	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,273,482	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,686,752		probably benign	Het
Emb	A	G	13: 117,232,765	M50V	probably benign	Het
Eml4	T	C	17: 83,473,139		probably null	Het
Fkbp10	G	T	11: 100,415,977	R65L	probably damaging	Het
Gm10436	G	T	12: 88,176,022	H275Q	probably benign	Het
Gm5878	T	C	6: 85,118,592	N83S	probably benign	Het
Gm8165	C	T	14: 43,676,237	A57T	unknown	Het
Gpr179	A	G	11: 97,337,900	V1143A	probably damaging	Het
Hat1	T	C	2: 71,421,260	Y218H	probably damaging	Het
Hfm1	T	A	5: 106,878,823	N885I	probably benign	Het
Inha	T	C	1: 75,509,447	S129P	probably damaging	Het
Ints9	T	C	14: 64,993,008	I128T	probably damaging	Het
Klra9	T	C	6: 130,191,186		probably null	Het
Lrba	A	G	3: 86,776,049	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,801,398	N3356D	probably benign	Het
Map3k5	A	G	10: 20,118,292	D1008G	possibly damaging	Het
Med4	T	A	14: 73,517,975	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,338,742	V254A	possibly damaging	Het
Napg	C	T	18: 62,994,304		probably benign	Het
Olfr173	C	T	16: 58,797,480	R122H	probably benign	Het
Olfr339	T	C	2: 36,422,144	S249P	possibly damaging	Het
Olfr823	T	A	10: 130,112,618	R57S	probably damaging	Het
Olfr853	A	G	9: 19,537,846	F28S	possibly damaging	Het
Olfr924	T	C	9: 38,848,926	S271P	probably damaging	Het
Pias1	T	A	9: 62,923,644	S161C	probably damaging	Het
Pias1	G	T	9: 62,923,645	N160K	possibly damaging	Het
Pigp	G	A	16: 94,367,607	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,092,327	V1070E	probably benign	Het
Prepl	T	C	17: 85,070,582	T457A	probably damaging	Het
Psg23	G	A	7: 18,606,928	A467V	probably benign	Het
Rad54l	T	C	4: 116,122,949	R13G	probably benign	Het
Rassf5	T	C	1: 131,180,599	D248G	probably damaging	Het
Rspo1	A	G	4: 125,005,162	N92S	probably damaging	Het
Scube1	G	A	15: 83,659,016		probably benign	Het
Sec31b	C	A	19: 44,523,115	V616F	probably damaging	Het
Sema3a	T	C	5: 13,565,914	V435A	probably damaging	Het
Slc7a10	T	A	7: 35,197,698	I208N	probably damaging	Het
Stab2	A	T	10: 86,856,556	M2151K	possibly damaging	Het
Tacc1	T	C	8: 25,175,219	D50G	probably damaging	Het
Tas2r121	G	T	6: 132,700,517	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,704,715	W570R	probably damaging	Het
Telo2	A	T	17: 25,104,654	F600I	probably damaging	Het
Trim36	T	A	18: 46,172,602	H426L	probably benign	Het
Trpm6	A	T	19: 18,809,652	N531Y	possibly damaging	Het
Ttc30a1	T	A	2: 75,980,849	M297L	probably benign	Het
Ttc39a	T	C	4: 109,442,723	C470R	probably damaging	Het
Ttn	C	T	2: 76,784,939	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,468,811	I1253F	probably damaging	Het
Unc79	A	T	12: 103,122,429	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,715,016	C89S	probably benign	Het
Wdr55	A	G	18: 36,763,382	E375G	probably benign	Het

Other mutations in Cep350

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Cep350	APN	1	155940746	missense	possibly damaging	0.68
IGL00821:Cep350	APN	1	155862204	missense	probably benign
IGL00837:Cep350	APN	1	155953391	missense	probably damaging	1.00
IGL00977:Cep350	APN	1	155932865	missense	probably null	0.99
IGL01544:Cep350	APN	1	155953187	missense	probably damaging	1.00
IGL01616:Cep350	APN	1	155953247	missense	probably benign	0.00
IGL01695:Cep350	APN	1	155944158	missense	probably damaging	1.00
IGL01902:Cep350	APN	1	155861985	missense	probably damaging	1.00
IGL01977:Cep350	APN	1	155911968	missense	probably benign	0.01
IGL02388:Cep350	APN	1	155953753	missense	probably benign	0.28
IGL02475:Cep350	APN	1	155862595	missense	probably damaging	1.00
IGL02528:Cep350	APN	1	155894615	missense	probably damaging	1.00
IGL02598:Cep350	APN	1	155862967	missense	probably benign	0.00
IGL02676:Cep350	APN	1	155862231	missense	possibly damaging	0.82
IGL02744:Cep350	APN	1	155931533	missense	probably damaging	0.98
IGL02817:Cep350	APN	1	155928842	missense	probably damaging	1.00
IGL02892:Cep350	APN	1	155868806	missense	possibly damaging	0.51
IGL03156:Cep350	APN	1	155858042	missense	probably damaging	1.00
IGL03166:Cep350	APN	1	155863600	missense	possibly damaging	0.78
IGL03216:Cep350	APN	1	155860627	missense	probably benign	0.06
IGL03268:Cep350	APN	1	155953549	missense	probably benign	0.16
IGL03358:Cep350	APN	1	155928539	missense	probably benign
NA:Cep350	UTSW	1	155958648	missense	probably damaging	1.00
R0060:Cep350	UTSW	1	155928626	missense	probably damaging	1.00
R0060:Cep350	UTSW	1	155928626	missense	probably damaging	1.00
R0066:Cep350	UTSW	1	155911218	missense	probably damaging	0.99
R0066:Cep350	UTSW	1	155911218	missense	probably damaging	0.99
R0172:Cep350	UTSW	1	155953447	missense	probably benign	0.00
R0365:Cep350	UTSW	1	155906571	missense	probably benign	0.00
R0472:Cep350	UTSW	1	155914723	missense	probably damaging	0.99
R0502:Cep350	UTSW	1	155900883	splice site	probably null
R0538:Cep350	UTSW	1	155848620	missense	possibly damaging	0.80
R0547:Cep350	UTSW	1	155901435	splice site	probably null
R0565:Cep350	UTSW	1	155961195	splice site	probably benign
R0607:Cep350	UTSW	1	155872048	missense	probably damaging	1.00
R0645:Cep350	UTSW	1	155940712	splice site	probably null
R0675:Cep350	UTSW	1	155959753	missense	possibly damaging	0.63
R0828:Cep350	UTSW	1	155953246	missense	probably benign	0.00
R0863:Cep350	UTSW	1	155862235	missense	probably benign	0.00
R0969:Cep350	UTSW	1	155940826	missense	possibly damaging	0.81
R1102:Cep350	UTSW	1	155931518	missense	probably damaging	1.00
R1186:Cep350	UTSW	1	155875376	missense	probably damaging	1.00
R1552:Cep350	UTSW	1	155910738	missense	possibly damaging	0.92
R1560:Cep350	UTSW	1	155929079	missense	possibly damaging	0.48
R1698:Cep350	UTSW	1	155953358	missense	possibly damaging	0.62
R1729:Cep350	UTSW	1	155911981	missense	probably benign	0.17
R1735:Cep350	UTSW	1	155953214	missense	probably damaging	0.99
R1740:Cep350	UTSW	1	155928833	missense	probably damaging	1.00
R1783:Cep350	UTSW	1	155928865	missense	probably damaging	1.00
R1844:Cep350	UTSW	1	155848628	missense	probably damaging	0.99
R1848:Cep350	UTSW	1	155953651	missense	probably benign	0.28
R1988:Cep350	UTSW	1	155933104	missense	possibly damaging	0.82
R2008:Cep350	UTSW	1	155914721	missense	probably benign	0.16
R2241:Cep350	UTSW	1	155958556	splice site	probably null
R2245:Cep350	UTSW	1	155879020	missense	probably benign	0.10
R2402:Cep350	UTSW	1	155863136	missense	probably benign
R2566:Cep350	UTSW	1	155959718	critical splice donor site	probably null
R3160:Cep350	UTSW	1	155863164	missense	probably benign	0.00
R3162:Cep350	UTSW	1	155863164	missense	probably benign	0.00
R3769:Cep350	UTSW	1	155953204	missense	probably damaging	1.00
R4035:Cep350	UTSW	1	155959795	missense	probably benign	0.06
R4158:Cep350	UTSW	1	155932875	missense	probably damaging	1.00
R4160:Cep350	UTSW	1	155932875	missense	probably damaging	1.00
R4213:Cep350	UTSW	1	155935961	missense	probably damaging	1.00
R4483:Cep350	UTSW	1	155926468	missense	probably benign	0.01
R4648:Cep350	UTSW	1	155902598	missense	possibly damaging	0.85
R4694:Cep350	UTSW	1	155928586	missense	probably damaging	1.00
R4836:Cep350	UTSW	1	155928833	missense	probably damaging	1.00
R4839:Cep350	UTSW	1	155928494	missense	probably benign	0.00
R4969:Cep350	UTSW	1	155860279	missense	probably damaging	0.99
R5014:Cep350	UTSW	1	155928206	missense	probably benign	0.00
R5027:Cep350	UTSW	1	155933354	missense	probably benign	0.01
R5144:Cep350	UTSW	1	155911150	missense	probably damaging	0.99
R5153:Cep350	UTSW	1	155935946	missense	probably damaging	1.00
R5165:Cep350	UTSW	1	155928368	missense	probably damaging	1.00
R5182:Cep350	UTSW	1	155858108	missense	probably damaging	1.00
R5445:Cep350	UTSW	1	155894723	missense	probably benign	0.01
R5738:Cep350	UTSW	1	155866078	missense	probably damaging	1.00
R5809:Cep350	UTSW	1	155933341	missense	probably damaging	0.98
R5855:Cep350	UTSW	1	155953762	missense	probably benign	0.00
R6103:Cep350	UTSW	1	155924576	missense	probably benign	0.05
R6139:Cep350	UTSW	1	155953279	missense	probably benign	0.03
R6285:Cep350	UTSW	1	155953374	missense	possibly damaging	0.48
R6430:Cep350	UTSW	1	155894673	missense	probably damaging	1.00
R6446:Cep350	UTSW	1	155862154	missense	probably benign
R6520:Cep350	UTSW	1	155933336	missense	probably benign	0.02
R6712:Cep350	UTSW	1	155858106	missense	possibly damaging	0.93
R6940:Cep350	UTSW	1	155928551	missense	probably benign	0.01
R7020:Cep350	UTSW	1	155928331	missense	probably damaging	1.00
R7056:Cep350	UTSW	1	155848627	missense	probably damaging	1.00
R7141:Cep350	UTSW	1	155914748	missense	probably damaging	1.00
R7215:Cep350	UTSW	1	155894707	missense	possibly damaging	0.89
R7247:Cep350	UTSW	1	155910753	missense	probably damaging	1.00
R7272:Cep350	UTSW	1	155953588	missense	probably damaging	0.98
R7336:Cep350	UTSW	1	155862276	missense	probably benign	0.17
R7361:Cep350	UTSW	1	155901491	missense	probably damaging	1.00
R7390:Cep350	UTSW	1	155866087	missense	possibly damaging	0.94
R7402:Cep350	UTSW	1	155928215	missense	probably benign	0.00
R7428:Cep350	UTSW	1	155894619	missense	probably benign	0.00
R7440:Cep350	UTSW	1	155940772	missense	probably damaging	0.98
R7520:Cep350	UTSW	1	155915629	missense	probably benign	0.05
R7529:Cep350	UTSW	1	155861923	missense	probably benign	0.08
R7635:Cep350	UTSW	1	155879021	nonsense	probably null
R7806:Cep350	UTSW	1	155862063	missense	probably benign	0.00
RF020:Cep350	UTSW	1	155915478	missense	probably benign	0.34
X0018:Cep350	UTSW	1	155953286	missense	probably benign	0.13

Posted On

2015-04-16