Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02475:Cep350'

294887

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: 0.963) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

155720710-155849001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155738341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 2501 (R2501W)

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 damaging
Transcript: ENSMUST00000138762
AA Change: R2501W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: R2501W

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,119,343 (GRCm39)		probably benign	Het
5730409E04Rik	A	G	4: 126,505,742 (GRCm39)	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849 (GRCm38)	I27N	probably damaging	Het
Akap6	A	T	12: 53,186,277 (GRCm39)	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,646,317 (GRCm39)	V31A	possibly damaging	Het
Cnga3	A	G	1: 37,297,072 (GRCm39)		probably null	Het
Crcp	T	C	5: 130,088,699 (GRCm39)		probably benign	Het
Creb5	G	A	6: 53,670,909 (GRCm39)	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,296 (GRCm39)	D38G	probably benign	Het
Fam171a1	A	G	2: 3,224,527 (GRCm39)	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,748,561 (GRCm39)	V396A	possibly damaging	Het
Gm10340	G	A	14: 14,832,274 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,544,310 (GRCm39)	T344A	probably benign	Het
Itga7	T	C	10: 128,769,958 (GRCm39)	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936 (GRCm39)		probably benign	Het
Neb	G	T	2: 52,182,831 (GRCm39)	N1038K	probably damaging	Het
Nf1	T	C	11: 79,426,493 (GRCm39)	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,406,872 (GRCm39)	T632K	possibly damaging	Het
Nme1nme2	A	G	11: 93,846,400 (GRCm39)	V16A	probably damaging	Het
Nts	A	G	10: 102,326,108 (GRCm39)		probably benign	Het
Olfml2b	A	G	1: 170,509,743 (GRCm39)	D697G	probably damaging	Het
Or5ac23	A	T	16: 59,149,088 (GRCm39)	H261Q	probably benign	Het
Or5m8	T	C	2: 85,822,376 (GRCm39)	F72L	probably benign	Het
Or9i1	T	A	19: 13,839,663 (GRCm39)	C169S	probably damaging	Het
Otof	T	C	5: 30,534,026 (GRCm39)	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,525,633 (GRCm39)	S479P		Het
Rnaseh2b	T	A	14: 62,584,064 (GRCm39)	F37I	probably damaging	Het
Rtn4	T	A	11: 29,683,801 (GRCm39)	I1031N	probably damaging	Het
Rxfp2	A	G	5: 149,987,151 (GRCm39)	E344G	probably benign	Het
Scel	A	G	14: 103,774,444 (GRCm39)	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,621,055 (GRCm39)	E39G	probably benign	Het
Slc6a12	T	A	6: 121,331,334 (GRCm39)		probably null	Het
Snapc3	C	A	4: 83,368,333 (GRCm39)	H277N	probably benign	Het
Susd2	A	G	10: 75,473,333 (GRCm39)		probably null	Het
Tagap1	T	C	17: 7,223,826 (GRCm39)	Q290R	probably benign	Het
Tenm3	A	T	8: 48,732,233 (GRCm39)		probably benign	Het
Tmem54	A	T	4: 129,002,073 (GRCm39)	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 84,889,721 (GRCm39)	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,777,131 (GRCm39)	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,141,667 (GRCm39)	V17M	probably benign	Het
Trip11	T	A	12: 101,861,942 (GRCm39)	T208S	probably benign	Het
Ttc17	C	A	2: 94,194,721 (GRCm39)	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,471,302 (GRCm39)	W222R	probably damaging	Het
Xkr8	A	T	4: 132,455,512 (GRCm39)	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,926,066 (GRCm39)	G354C	probably null	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	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
IGL02528:Cep350	APN	1	155,770,361 (GRCm39)	missense	probably damaging	1.00
IGL02598:Cep350	APN	1	155,738,713 (GRCm39)	missense	probably benign	0.00
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