Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02598:Cep350'

299949

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep350

Ensembl Gene

ENSMUSG00000033671

Gene Name

centrosomal protein 350

Synonyms

4933409L06Rik, 6430546F08Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL02598

Quality Score

Status

Chromosome

Chromosomal Location

155720710-155849001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155738713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2377 (I2377V)

Ref Sequence

ENSEMBL: ENSMUSP00000120085 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000129865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132189

Predicted Effect

probably benign
Transcript: ENSMUST00000138762
AA Change: I2377V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: I2377V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195048

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,834,448 (GRCm39)	M1K	probably null	Het
Abca13	C	T	11: 9,381,898 (GRCm39)	T3850I	probably damaging	Het
Abcc4	A	T	14: 118,905,781 (GRCm39)	L95*	probably null	Het
Acacb	A	G	5: 114,384,098 (GRCm39)	Y2209C	probably damaging	Het
Acadm	A	G	3: 153,644,181 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,269,417 (GRCm39)	V1177M	probably damaging	Het
Atp8a1	A	T	5: 67,840,099 (GRCm39)		probably null	Het
Catsperd	A	G	17: 56,954,815 (GRCm39)		probably null	Het
Cd28	A	G	1: 60,802,498 (GRCm39)		probably benign	Het
Cep164	A	G	9: 45,682,002 (GRCm39)	Y1934H	probably damaging	Het
Csmd3	T	C	15: 47,533,086 (GRCm39)	K1581E	probably damaging	Het
Dab2	A	T	15: 6,458,847 (GRCm39)	N232I	probably damaging	Het
Dyrk4	G	A	6: 126,860,982 (GRCm39)		probably benign	Het
Efcab14	T	A	4: 115,597,631 (GRCm39)	C75*	probably null	Het
Elovl1	T	C	4: 118,288,616 (GRCm39)		probably null	Het
Eps8l2	T	G	7: 140,934,849 (GRCm39)		probably benign	Het
Grik1	A	T	16: 87,744,872 (GRCm39)	V460E	probably damaging	Het
Gtf2f2	A	G	14: 76,245,182 (GRCm39)	S35P	probably benign	Het
Ifi203	A	G	1: 173,762,568 (GRCm39)		probably benign	Het
Ifi209	T	C	1: 173,472,281 (GRCm39)	V374A	probably damaging	Het
Kics2	G	A	10: 121,575,876 (GRCm39)		probably benign	Het
Lars1	A	G	18: 42,360,342 (GRCm39)	S705P	possibly damaging	Het
Lcmt1	A	G	7: 123,020,871 (GRCm39)		probably benign	Het
Limd1	T	C	9: 123,345,933 (GRCm39)	S571P	probably benign	Het
Limd1	T	A	9: 123,309,236 (GRCm39)	Y312N	probably benign	Het
Lin28b	A	T	10: 45,296,622 (GRCm39)	D125E	possibly damaging	Het
Lmtk3	T	C	7: 45,442,564 (GRCm39)	S416P	probably damaging	Het
Map7d3	T	C	X: 55,855,146 (GRCm39)	T446A	probably benign	Het
Masp1	T	A	16: 23,278,381 (GRCm39)	M523L	probably benign	Het
Mroh4	C	A	15: 74,483,092 (GRCm39)		probably null	Het
Mtmr6	G	A	14: 60,537,953 (GRCm39)	A651T	probably damaging	Het
Myocd	A	G	11: 65,074,296 (GRCm39)	S738P	probably benign	Het
Or10a2	A	T	7: 106,673,923 (GRCm39)	N296I	possibly damaging	Het
Or4d5	A	T	9: 40,011,861 (GRCm39)	F308L	probably benign	Het
Or52l1	A	G	7: 104,830,163 (GRCm39)	V134A	probably damaging	Het
Or5d46	A	T	2: 88,170,595 (GRCm39)	I229F	possibly damaging	Het
Or6c3b	A	T	10: 129,527,142 (GRCm39)	I256N	possibly damaging	Het
Parg	G	T	14: 31,936,281 (GRCm39)	V479L	probably damaging	Het
Pcdhb10	C	A	18: 37,546,834 (GRCm39)	H637N	possibly damaging	Het
Plekhg2	G	A	7: 28,059,900 (GRCm39)	T1118I	possibly damaging	Het
Podxl	T	C	6: 31,501,355 (GRCm39)	E400G	probably damaging	Het
Prss54	C	A	8: 96,292,337 (GRCm39)	V81F	probably damaging	Het
Pzp	A	G	6: 128,464,420 (GRCm39)	L1369P	probably benign	Het
Rfx8	A	T	1: 39,735,128 (GRCm39)		probably benign	Het
Rgs6	C	T	12: 83,138,571 (GRCm39)	P302S	probably benign	Het
Rnf148	A	C	6: 23,654,456 (GRCm39)	I180S	probably damaging	Het
Sacm1l	A	G	9: 123,408,061 (GRCm39)	D350G	probably benign	Het
Slc33a1	C	T	3: 63,850,753 (GRCm39)	G524S	probably benign	Het
Slc5a7	A	G	17: 54,591,221 (GRCm39)	V237A	probably benign	Het
Spink7	T	C	18: 62,727,356 (GRCm39)	D56G	probably damaging	Het
Syn3	A	G	10: 86,303,063 (GRCm39)	S31P	probably damaging	Het
Tesl1	A	T	X: 23,773,710 (GRCm39)	T404S	probably benign	Het
Thrb	C	A	14: 18,008,606 (GRCm38)	P110Q	possibly damaging	Het
Vmn2r76	G	T	7: 85,877,879 (GRCm39)	T506K	probably benign	Het
Vps45	A	G	3: 95,938,354 (GRCm39)	L486P	probably benign	Het
Zan	G	A	5: 137,444,473 (GRCm39)	T1823M	unknown	Het
Zdhhc6	T	A	19: 55,302,959 (GRCm39)	Q14L	probably benign	Het
Zfp990	A	T	4: 145,263,533 (GRCm39)	N177I	possibly damaging	Het

Other mutations in Cep350

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Cep350	APN	1	155,816,492 (GRCm39)	missense	possibly damaging	0.68
IGL00821:Cep350	APN	1	155,737,950 (GRCm39)	missense	probably benign
IGL00837:Cep350	APN	1	155,829,137 (GRCm39)	missense	probably damaging	1.00
IGL00977:Cep350	APN	1	155,808,611 (GRCm39)	missense	probably null	0.99
IGL01544:Cep350	APN	1	155,828,933 (GRCm39)	missense	probably damaging	1.00
IGL01616:Cep350	APN	1	155,828,993 (GRCm39)	missense	probably benign	0.00
IGL01695:Cep350	APN	1	155,819,904 (GRCm39)	missense	probably damaging	1.00
IGL01902:Cep350	APN	1	155,737,731 (GRCm39)	missense	probably damaging	1.00
IGL01977:Cep350	APN	1	155,787,714 (GRCm39)	missense	probably benign	0.01
IGL02388:Cep350	APN	1	155,829,499 (GRCm39)	missense	probably benign	0.28
IGL02475:Cep350	APN	1	155,738,341 (GRCm39)	missense	probably damaging	1.00
IGL02528:Cep350	APN	1	155,770,361 (GRCm39)	missense	probably damaging	1.00
IGL02676:Cep350	APN	1	155,737,977 (GRCm39)	missense	possibly damaging	0.82
IGL02728:Cep350	APN	1	155,828,968 (GRCm39)	missense	probably benign	0.02
IGL02744:Cep350	APN	1	155,807,279 (GRCm39)	missense	probably damaging	0.98
IGL02817:Cep350	APN	1	155,804,588 (GRCm39)	missense	probably damaging	1.00
IGL02892:Cep350	APN	1	155,744,552 (GRCm39)	missense	possibly damaging	0.51
IGL03156:Cep350	APN	1	155,733,788 (GRCm39)	missense	probably damaging	1.00
IGL03166:Cep350	APN	1	155,739,346 (GRCm39)	missense	possibly damaging	0.78
IGL03216:Cep350	APN	1	155,736,373 (GRCm39)	missense	probably benign	0.06
IGL03268:Cep350	APN	1	155,829,295 (GRCm39)	missense	probably benign	0.16
IGL03358:Cep350	APN	1	155,804,285 (GRCm39)	missense	probably benign
primed	UTSW	1	155,829,334 (GRCm39)	missense	probably damaging	0.98
stoked	UTSW	1	155,791,321 (GRCm39)	missense	probably benign	0.03
NA:Cep350	UTSW	1	155,834,394 (GRCm39)	missense	probably damaging	1.00
R0060:Cep350	UTSW	1	155,804,372 (GRCm39)	missense	probably damaging	1.00
R0060:Cep350	UTSW	1	155,804,372 (GRCm39)	missense	probably damaging	1.00
R0066:Cep350	UTSW	1	155,786,964 (GRCm39)	missense	probably damaging	0.99
R0066:Cep350	UTSW	1	155,786,964 (GRCm39)	missense	probably damaging	0.99
R0172:Cep350	UTSW	1	155,829,193 (GRCm39)	missense	probably benign	0.00
R0365:Cep350	UTSW	1	155,782,317 (GRCm39)	missense	probably benign	0.00
R0472:Cep350	UTSW	1	155,790,469 (GRCm39)	missense	probably damaging	0.99
R0502:Cep350	UTSW	1	155,776,629 (GRCm39)	splice site	probably null
R0538:Cep350	UTSW	1	155,724,366 (GRCm39)	missense	possibly damaging	0.80
R0547:Cep350	UTSW	1	155,777,181 (GRCm39)	splice site	probably null
R0565:Cep350	UTSW	1	155,836,941 (GRCm39)	splice site	probably benign
R0607:Cep350	UTSW	1	155,747,794 (GRCm39)	missense	probably damaging	1.00
R0645:Cep350	UTSW	1	155,816,458 (GRCm39)	splice site	probably null
R0675:Cep350	UTSW	1	155,835,499 (GRCm39)	missense	possibly damaging	0.63
R0828:Cep350	UTSW	1	155,828,992 (GRCm39)	missense	probably benign	0.00
R0863:Cep350	UTSW	1	155,737,981 (GRCm39)	missense	probably benign	0.00
R0969:Cep350	UTSW	1	155,816,572 (GRCm39)	missense	possibly damaging	0.81
R1102:Cep350	UTSW	1	155,807,264 (GRCm39)	missense	probably damaging	1.00
R1186:Cep350	UTSW	1	155,751,122 (GRCm39)	missense	probably damaging	1.00
R1552:Cep350	UTSW	1	155,786,484 (GRCm39)	missense	possibly damaging	0.92
R1560:Cep350	UTSW	1	155,804,825 (GRCm39)	missense	possibly damaging	0.48
R1698:Cep350	UTSW	1	155,829,104 (GRCm39)	missense	possibly damaging	0.62
R1729:Cep350	UTSW	1	155,787,727 (GRCm39)	missense	probably benign	0.17
R1735:Cep350	UTSW	1	155,828,960 (GRCm39)	missense	probably damaging	0.99
R1740:Cep350	UTSW	1	155,804,579 (GRCm39)	missense	probably damaging	1.00
R1783:Cep350	UTSW	1	155,804,611 (GRCm39)	missense	probably damaging	1.00
R1844:Cep350	UTSW	1	155,724,374 (GRCm39)	missense	probably damaging	0.99
R1848:Cep350	UTSW	1	155,829,397 (GRCm39)	missense	probably benign	0.28
R1988:Cep350	UTSW	1	155,808,850 (GRCm39)	missense	possibly damaging	0.82
R2008:Cep350	UTSW	1	155,790,467 (GRCm39)	missense	probably benign	0.16
R2241:Cep350	UTSW	1	155,834,302 (GRCm39)	splice site	probably null
R2245:Cep350	UTSW	1	155,754,766 (GRCm39)	missense	probably benign	0.10
R2402:Cep350	UTSW	1	155,738,882 (GRCm39)	missense	probably benign
R2566:Cep350	UTSW	1	155,835,464 (GRCm39)	critical splice donor site	probably null
R3160:Cep350	UTSW	1	155,738,910 (GRCm39)	missense	probably benign	0.00
R3162:Cep350	UTSW	1	155,738,910 (GRCm39)	missense	probably benign	0.00
R3769:Cep350	UTSW	1	155,828,950 (GRCm39)	missense	probably damaging	1.00
R4035:Cep350	UTSW	1	155,835,541 (GRCm39)	missense	probably benign	0.06
R4158:Cep350	UTSW	1	155,808,621 (GRCm39)	missense	probably damaging	1.00
R4160:Cep350	UTSW	1	155,808,621 (GRCm39)	missense	probably damaging	1.00
R4213:Cep350	UTSW	1	155,811,707 (GRCm39)	missense	probably damaging	1.00
R4483:Cep350	UTSW	1	155,802,214 (GRCm39)	missense	probably benign	0.01
R4648:Cep350	UTSW	1	155,778,344 (GRCm39)	missense	possibly damaging	0.85
R4694:Cep350	UTSW	1	155,804,332 (GRCm39)	missense	probably damaging	1.00
R4836:Cep350	UTSW	1	155,804,579 (GRCm39)	missense	probably damaging	1.00
R4839:Cep350	UTSW	1	155,804,240 (GRCm39)	missense	probably benign	0.00
R4969:Cep350	UTSW	1	155,736,025 (GRCm39)	missense	probably damaging	0.99
R5014:Cep350	UTSW	1	155,803,952 (GRCm39)	missense	probably benign	0.00
R5027:Cep350	UTSW	1	155,809,100 (GRCm39)	missense	probably benign	0.01
R5144:Cep350	UTSW	1	155,786,896 (GRCm39)	missense	probably damaging	0.99
R5153:Cep350	UTSW	1	155,811,692 (GRCm39)	missense	probably damaging	1.00
R5165:Cep350	UTSW	1	155,804,114 (GRCm39)	missense	probably damaging	1.00
R5182:Cep350	UTSW	1	155,733,854 (GRCm39)	missense	probably damaging	1.00
R5445:Cep350	UTSW	1	155,770,469 (GRCm39)	missense	probably benign	0.01
R5738:Cep350	UTSW	1	155,741,824 (GRCm39)	missense	probably damaging	1.00
R5809:Cep350	UTSW	1	155,809,087 (GRCm39)	missense	probably damaging	0.98
R5855:Cep350	UTSW	1	155,829,508 (GRCm39)	missense	probably benign	0.00
R6103:Cep350	UTSW	1	155,800,322 (GRCm39)	missense	probably benign	0.05
R6139:Cep350	UTSW	1	155,829,025 (GRCm39)	missense	probably benign	0.03
R6285:Cep350	UTSW	1	155,829,120 (GRCm39)	missense	possibly damaging	0.48
R6430:Cep350	UTSW	1	155,770,419 (GRCm39)	missense	probably damaging	1.00
R6446:Cep350	UTSW	1	155,737,900 (GRCm39)	missense	probably benign
R6520:Cep350	UTSW	1	155,809,082 (GRCm39)	missense	probably benign	0.02
R6712:Cep350	UTSW	1	155,733,852 (GRCm39)	missense	possibly damaging	0.93
R6940:Cep350	UTSW	1	155,804,297 (GRCm39)	missense	probably benign	0.01
R7020:Cep350	UTSW	1	155,804,077 (GRCm39)	missense	probably damaging	1.00
R7056:Cep350	UTSW	1	155,724,373 (GRCm39)	missense	probably damaging	1.00
R7141:Cep350	UTSW	1	155,790,494 (GRCm39)	missense	probably damaging	1.00
R7215:Cep350	UTSW	1	155,770,453 (GRCm39)	missense	possibly damaging	0.89
R7247:Cep350	UTSW	1	155,786,499 (GRCm39)	missense	probably damaging	1.00
R7272:Cep350	UTSW	1	155,829,334 (GRCm39)	missense	probably damaging	0.98
R7336:Cep350	UTSW	1	155,738,022 (GRCm39)	missense	probably benign	0.17
R7361:Cep350	UTSW	1	155,777,237 (GRCm39)	missense	probably damaging	1.00
R7390:Cep350	UTSW	1	155,741,833 (GRCm39)	missense	possibly damaging	0.94
R7402:Cep350	UTSW	1	155,803,961 (GRCm39)	missense	probably benign	0.00
R7428:Cep350	UTSW	1	155,770,365 (GRCm39)	missense	probably benign	0.00
R7440:Cep350	UTSW	1	155,816,518 (GRCm39)	missense	probably damaging	0.98
R7520:Cep350	UTSW	1	155,791,375 (GRCm39)	missense	probably benign	0.05
R7529:Cep350	UTSW	1	155,737,669 (GRCm39)	missense	probably benign	0.08
R7635:Cep350	UTSW	1	155,754,767 (GRCm39)	nonsense	probably null
R7806:Cep350	UTSW	1	155,737,809 (GRCm39)	missense	probably benign	0.00
R8100:Cep350	UTSW	1	155,829,148 (GRCm39)	missense	probably damaging	0.97
R8192:Cep350	UTSW	1	155,816,529 (GRCm39)	missense	possibly damaging	0.94
R8193:Cep350	UTSW	1	155,737,825 (GRCm39)	missense	probably benign	0.01
R8351:Cep350	UTSW	1	155,747,780 (GRCm39)	missense	probably damaging	0.99
R8406:Cep350	UTSW	1	155,798,164 (GRCm39)	missense	probably benign	0.00
R8451:Cep350	UTSW	1	155,747,780 (GRCm39)	missense	probably damaging	0.99
R8467:Cep350	UTSW	1	155,791,321 (GRCm39)	missense	probably benign	0.03
R8543:Cep350	UTSW	1	155,738,122 (GRCm39)	missense	probably damaging	0.98
R8714:Cep350	UTSW	1	155,736,477 (GRCm39)	missense	probably damaging	0.98
R8810:Cep350	UTSW	1	155,803,862 (GRCm39)	missense	probably damaging	1.00
R8837:Cep350	UTSW	1	155,737,518 (GRCm39)	missense	probably benign	0.09
R8933:Cep350	UTSW	1	155,739,161 (GRCm39)	missense	probably benign	0.01
R9043:Cep350	UTSW	1	155,773,228 (GRCm39)	missense	probably damaging	1.00
R9050:Cep350	UTSW	1	155,738,687 (GRCm39)	missense	possibly damaging	0.81
R9067:Cep350	UTSW	1	155,737,485 (GRCm39)	missense	probably benign	0.00
R9105:Cep350	UTSW	1	155,835,561 (GRCm39)	missense	probably damaging	1.00
R9295:Cep350	UTSW	1	155,738,051 (GRCm39)	nonsense	probably null
R9304:Cep350	UTSW	1	155,829,464 (GRCm39)	missense	probably damaging	0.98
R9456:Cep350	UTSW	1	155,744,457 (GRCm39)	missense	probably benign	0.00
R9575:Cep350	UTSW	1	155,751,113 (GRCm39)	missense	probably benign	0.03
R9715:Cep350	UTSW	1	155,751,107 (GRCm39)	missense	probably benign	0.00
R9749:Cep350	UTSW	1	155,828,985 (GRCm39)	missense	probably benign	0.02
R9758:Cep350	UTSW	1	155,770,433 (GRCm39)	missense	probably damaging	0.96
R9767:Cep350	UTSW	1	155,739,018 (GRCm39)	missense	probably benign	0.01
RF020:Cep350	UTSW	1	155,791,224 (GRCm39)	missense	probably benign	0.34
X0018:Cep350	UTSW	1	155,829,032 (GRCm39)	missense	probably benign	0.13

Posted On

2015-04-16