Mutagenetix > Incidental Mutation

Incidental Mutation 'R4035:Cep350'

313647

Institutional Source

Beutler Lab

Gene Symbol

Cep350

Ensembl Gene

ENSMUSG00000033671

Gene Name

centrosomal protein 350

Synonyms

4933409L06Rik, 6430546F08Rik

MMRRC Submission

041613-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4035 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155720710-155849001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155835541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 52 (T52A)

Ref Sequence

ENSEMBL: ENSMUSP00000120085 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000124495

Predicted Effect

probably benign
Transcript: ENSMUST00000138762
AA Change: T52A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: T52A

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

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,333,879 (GRCm39)	F34L	probably benign	Het
Abcb8	A	G	5: 24,605,619 (GRCm39)	S168G	probably benign	Het
Ano5	A	G	7: 51,216,233 (GRCm39)		probably benign	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Bhlhe41	A	G	6: 145,808,754 (GRCm39)	S353P	probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Coro2b	A	G	9: 62,333,071 (GRCm39)		probably benign	Het
Ctcf	A	T	8: 106,390,789 (GRCm39)	E132V	possibly damaging	Het
Cwf19l2	A	T	9: 3,456,803 (GRCm39)	H712L	probably benign	Het
Cxcl2	A	T	5: 91,052,272 (GRCm39)	Q87L	possibly damaging	Het
Dop1a	T	C	9: 86,376,486 (GRCm39)	V240A	probably damaging	Het
Etfdh	C	T	3: 79,521,018 (GRCm39)	V294I	probably benign	Het
Fnip2	C	T	3: 79,386,808 (GRCm39)	V973I	probably benign	Het
Fyco1	T	C	9: 123,630,348 (GRCm39)	T1286A	probably benign	Het
Gbp10	T	A	5: 105,372,324 (GRCm39)	E145D	possibly damaging	Het
Gsdme	A	T	6: 50,206,428 (GRCm39)	N138K	possibly damaging	Het
Hcn4	A	G	9: 58,751,172 (GRCm39)	D266G	probably benign	Het
Henmt1	T	C	3: 108,866,001 (GRCm39)	V199A	probably damaging	Het
Hmcn2	A	T	2: 31,226,624 (GRCm39)	K200*	probably null	Het
Hmgcr	C	G	13: 96,787,571 (GRCm39)	L852F	probably damaging	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Isl2	A	G	9: 55,449,754 (GRCm39)	S119G	probably benign	Het
Krba1	A	G	6: 48,388,614 (GRCm39)	N538D	probably damaging	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Ndst4	C	T	3: 125,232,385 (GRCm39)	T318M	probably damaging	Het
Nlrp4f	T	C	13: 65,341,821 (GRCm39)	N608S	probably benign	Het
Nolc1	GCA	GCACCA	19: 46,069,797 (GRCm39)		probably benign	Het
Or6d12	A	G	6: 116,493,590 (GRCm39)	N284S	possibly damaging	Het
Or8b4	G	A	9: 37,829,937 (GRCm39)		probably benign	Het
Osbpl2	G	A	2: 179,803,353 (GRCm39)	R475H	probably damaging	Het
Ppfibp1	A	G	6: 146,898,334 (GRCm39)	K97E	probably damaging	Het
Pramel26	T	A	4: 143,537,026 (GRCm39)	D435V	probably benign	Het
Prpsap1	A	T	11: 116,363,834 (GRCm39)	M263K	probably benign	Het
Prtg	G	T	9: 72,749,991 (GRCm39)	E132*	probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rttn	T	C	18: 89,013,777 (GRCm39)	V482A	probably benign	Het
Samsn1	A	G	16: 75,706,073 (GRCm39)	M1T	probably null	Het
Scel	A	G	14: 103,767,440 (GRCm39)	N33S	probably damaging	Het
Sema4g	A	T	19: 44,989,853 (GRCm39)	Y644F	probably damaging	Het
Slc39a10	G	A	1: 46,851,234 (GRCm39)	T752M	probably damaging	Het
Snx27	T	C	3: 94,431,551 (GRCm39)	D281G	probably damaging	Het
Spesp1	T	A	9: 62,180,318 (GRCm39)	I197L	probably benign	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Tpgs1	A	G	10: 79,505,199 (GRCm39)		probably null	Het
Trpc2	G	A	7: 101,733,711 (GRCm39)	S220N	probably damaging	Het
Ttk	C	A	9: 83,736,890 (GRCm39)	P450T	possibly damaging	Het
Ttn	T	G	2: 76,740,165 (GRCm39)	Q3458P	probably benign	Het
Ube2z	A	G	11: 95,951,893 (GRCm39)	F152L	probably damaging	Het
Utp20	C	T	10: 88,598,668 (GRCm39)	V103I	probably benign	Het
Zfa-ps	T	A	10: 52,420,636 (GRCm39)		noncoding transcript	Het
Zfp267	T	G	3: 36,218,989 (GRCm39)	H337Q	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
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

Predicted Primers

PCR Primer
(F):5'- AAATGCAGGCGTGGCGTATG -3'
(R):5'- AGCATAGCCTTTCATAATGGTAGG -3'

Sequencing Primer
(F):5'- GTATGTGCATCTATCCCCACAAG -3'
(R):5'- GATTATGCGGTCTCTCTCC -3'

Posted On

2015-04-30