Mutagenetix > Incidental Mutation

Incidental Mutation 'R9050:Cep350'

688277

Institutional Source

Beutler Lab

Gene Symbol

Cep350

Ensembl Gene

ENSMUSG00000033671

Gene Name

centrosomal protein 350

Synonyms

4933409L06Rik, 6430546F08Rik

MMRRC Submission

068876-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R9050 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155720710-155849001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155738687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2385 (D2385E)

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

possibly damaging
Transcript: ENSMUST00000138762
AA Change: D2385E

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: D2385E

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,208,605 (GRCm39)	Y332H	probably benign	Het
Apoc3	A	G	9: 46,144,592 (GRCm39)	F77L	probably benign	Het
Atp5f1c	A	T	2: 10,069,049 (GRCm39)	D99E	probably damaging	Het
Atxn3	A	T	12: 101,924,387 (GRCm39)		probably benign	Het
Calcoco1	A	G	15: 102,618,400 (GRCm39)	V463A	probably damaging	Het
Cby3	A	G	11: 50,248,617 (GRCm39)	T20A	possibly damaging	Het
Cdhr2	A	G	13: 54,883,133 (GRCm39)	D1256G	probably benign	Het
Clec9a	G	C	6: 129,396,561 (GRCm39)	A170P	possibly damaging	Het
Col5a3	C	T	9: 20,697,691 (GRCm39)	G871S	probably damaging	Het
Fmo4	A	G	1: 162,635,099 (GRCm39)	S159P	probably benign	Het
Gabbr2	A	G	4: 46,798,659 (GRCm39)	F272L	probably benign	Het
Glp1r	G	A	17: 31,137,892 (GRCm39)	G108S	probably damaging	Het
Herpud1	T	C	8: 95,117,454 (GRCm39)	S13P	probably benign	Het
Hps5	T	C	7: 46,422,607 (GRCm39)	D574G	probably benign	Het
Il7	A	G	3: 7,669,170 (GRCm39)	V22A	possibly damaging	Het
Kmt5c	A	G	7: 4,745,281 (GRCm39)	T91A	probably benign	Het
Mrpl39	A	C	16: 84,531,844 (GRCm39)		probably benign	Het
Mtr	T	C	13: 12,231,748 (GRCm39)	D652G	probably null	Het
Neb	C	T	2: 52,079,901 (GRCm39)	V5768M	probably damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nicol1	G	C	5: 34,140,874 (GRCm39)	A29P	unknown	Het
Nmrk1	T	A	19: 18,618,539 (GRCm39)	M74K	probably benign	Het
Obox8	A	G	7: 14,066,870 (GRCm39)	L58P	unknown	Het
Oga	T	C	19: 45,756,354 (GRCm39)	T430A	probably damaging	Het
Or1o4	A	G	17: 37,590,820 (GRCm39)	Y164H	probably damaging	Het
Or2b2	A	G	13: 21,887,150 (GRCm39)		probably benign	Het
Or2y1e	T	C	11: 49,218,930 (GRCm39)	S231P	possibly damaging	Het
Or5p62	A	C	7: 107,771,087 (GRCm39)	L288W	probably damaging	Het
Pcdhb17	T	G	18: 37,620,286 (GRCm39)	V692G	probably damaging	Het
Pfas	A	G	11: 68,882,567 (GRCm39)	V829A	probably benign	Het
Pramel24	A	T	4: 143,453,329 (GRCm39)	T146S	probably benign	Het
Pth	A	G	7: 112,985,043 (GRCm39)	V110A	probably benign	Het
Rabggta	T	A	14: 55,959,056 (GRCm39)	Q37L	probably benign	Het
Rin3	A	G	12: 102,335,738 (GRCm39)	T550A	probably damaging	Het
Scn8a	G	A	15: 100,906,161 (GRCm39)	V785I	possibly damaging	Het
Sec24d	T	C	3: 123,144,374 (GRCm39)	V617A	probably benign	Het
Slc47a1	T	C	11: 61,235,160 (GRCm39)	I558V	probably benign	Het
Slc6a15	A	T	10: 103,252,516 (GRCm39)	M560L	possibly damaging	Het
Slfn9	G	A	11: 82,879,120 (GRCm39)	T3I	probably benign	Het
Spag9	A	G	11: 93,935,294 (GRCm39)	H35R	probably damaging	Het
Spats2	G	T	15: 99,110,010 (GRCm39)	R469L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Ssx2ip	C	T	3: 146,144,512 (GRCm39)	S592L	possibly damaging	Het
Ston1	A	G	17: 88,944,228 (GRCm39)	T545A	probably benign	Het
Suz12	C	T	11: 79,913,023 (GRCm39)	L379F	probably damaging	Het
Tbc1d24	C	A	17: 24,404,899 (GRCm39)	V82L	probably benign	Het
Tbc1d24	A	T	17: 24,404,898 (GRCm39)	V82E	possibly damaging	Het
Thada	A	G	17: 84,736,629 (GRCm39)	I884T	probably damaging	Het
Tln1	C	A	4: 43,549,786 (GRCm39)	E542*	probably null	Het
Togaram2	T	C	17: 72,007,878 (GRCm39)	L401P	probably damaging	Het
Ttbk2	A	T	2: 120,637,319 (GRCm39)	N115K	probably benign	Het
Tubgcp4	G	A	2: 121,004,079 (GRCm39)	S40N	probably benign	Het
Wrn	T	C	8: 33,833,021 (GRCm39)	D157G	probably damaging	Het
Zer1	A	T	2: 30,001,294 (GRCm39)	F70Y	probably damaging	Het
Zfp791	T	C	8: 85,837,334 (GRCm39)	I177V	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCTTCATTAGCTCTGTGGG -3'
(R):5'- CAGTACAGATGACCGCAGTC -3'

Sequencing Primer
(F):5'- TCCAGCAGCCTTTCCGAGTG -3'
(R):5'- GTACAGATGACCGCAGTCCAGAC -3'

Posted On

2021-11-19