Mutagenetix > Incidental Mutation

Incidental Mutation 'R6103:Cep350'

485351

Institutional Source

Beutler Lab

Gene Symbol

Cep350

Ensembl Gene

ENSMUSG00000033671

Gene Name

centrosomal protein 350

Synonyms

6430546F08Rik, 4933409L06Rik

MMRRC Submission

044253-MU

Accession Numbers

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

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155844964-155973255 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155924576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1176 (D1176V)

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: ENSMUST00000138762
AA Change: D1176V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: D1176V

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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
1700021F05Rik	A	T	10: 43,532,920	Y76N	probably benign	Het
Abcc8	A	G	7: 46,119,021	S926P	possibly damaging	Het
Acacb	T	A	5: 114,245,881	M2157K	probably damaging	Het
Aco2	T	C	15: 81,913,251	V636A	probably benign	Het
Adgrf3	T	C	5: 30,196,267	Y51C	probably damaging	Het
Adprhl1	T	C	8: 13,222,055	T1568A	possibly damaging	Het
Ank1	T	A	8: 23,113,983	S937T	probably damaging	Het
Ankrd50	T	C	3: 38,454,429	E340G	probably damaging	Het
Avpr1b	C	T	1: 131,609,417	P90S	probably damaging	Het
Cacna2d3	T	C	14: 29,396,489	H159R	probably damaging	Het
Carmil3	A	T	14: 55,505,427	T1185S	probably benign	Het
Casp2	A	T	6: 42,279,880	R357S	probably damaging	Het
Ccdc34	A	G	2: 110,018,007	D47G	probably benign	Het
Cd109	A	G	9: 78,698,314		probably null	Het
Cd209d	T	C	8: 3,878,304	Y27C	probably damaging	Het
Cpd	A	T	11: 76,799,799	S844T	probably benign	Het
Cyp4x1	A	G	4: 115,111,667	L380P	probably damaging	Het
Dscam	A	G	16: 96,825,581	V376A	probably benign	Het
Enam	T	A	5: 88,502,328	N565K	probably damaging	Het
Fam110c	G	A	12: 31,074,795	W252*	probably null	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Fgb	T	C	3: 83,043,863	D281G	probably benign	Het
Frem2	T	A	3: 53,549,788	T2048S	probably benign	Het
Fut8	A	T	12: 77,331,947		probably benign	Het
Glmp	T	C	3: 88,328,031	S238P	probably benign	Het
Gm35315	T	A	5: 110,078,271	Y434F	probably damaging	Het
Gnpnat1	A	G	14: 45,383,399	F71S	probably damaging	Het
Gpnmb	A	G	6: 49,042,886	R64G	possibly damaging	Het
Grxcr1	T	C	5: 68,166,204	F275S	possibly damaging	Het
Ift140	T	A	17: 25,093,126	C1314S	probably damaging	Het
Kif9	T	C	9: 110,489,849	I127T	possibly damaging	Het
Mmd2	A	G	5: 142,567,863		probably null	Het
Ms4a3	A	T	19: 11,639,218	V20D	possibly damaging	Het
Myh7b	A	G	2: 155,618,743	E272G	probably damaging	Het
Naaladl1	G	A	19: 6,108,713	G292S	probably damaging	Het
Notch2	T	A	3: 98,135,743	Y1475N	possibly damaging	Het
Obp2a	G	A	2: 25,700,151	E21K	probably damaging	Het
Olfr1019	A	G	2: 85,841,432	Y120H	probably damaging	Het
Osbpl10	T	A	9: 115,061,872	Y109*	probably null	Het
Plcd1	A	T	9: 119,072,041	W749R	probably benign	Het
Ptpro	A	G	6: 137,400,706	E718G	possibly damaging	Het
Rbm4	C	T	19: 4,787,919	R295H	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Setdb2	T	C	14: 59,409,532		probably null	Het
Slc25a18	C	A	6: 120,789,438	L131I	probably damaging	Het
Slc4a10	A	G	2: 62,234,465	H221R	probably damaging	Het
Tbc1d32	A	T	10: 56,150,883	W757R	probably damaging	Het
Tmem183a	C	A	1: 134,348,146	V331L	probably benign	Het
Try10	C	A	6: 41,356,550	H76Q	probably damaging	Het
Ttn	T	A	2: 76,918,255	H4150L	probably benign	Het
Vmn2r52	G	A	7: 10,171,400	P171S	probably benign	Het
Vmn2r88	A	G	14: 51,415,369	T450A	probably benign	Het
Yipf7	A	T	5: 69,541,062	V34D	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zg16	A	G	7: 127,050,576	V71A	probably benign	Het

Other mutations in Cep350

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Cep350	APN	1	155,940,746 (GRCm38)	missense	possibly damaging	0.68
IGL00821:Cep350	APN	1	155,862,204 (GRCm38)	missense	probably benign
IGL00837:Cep350	APN	1	155,953,391 (GRCm38)	missense	probably damaging	1.00
IGL00977:Cep350	APN	1	155,932,865 (GRCm38)	missense	probably null	0.99
IGL01544:Cep350	APN	1	155,953,187 (GRCm38)	missense	probably damaging	1.00
IGL01616:Cep350	APN	1	155,953,247 (GRCm38)	missense	probably benign	0.00
IGL01695:Cep350	APN	1	155,944,158 (GRCm38)	missense	probably damaging	1.00
IGL01902:Cep350	APN	1	155,861,985 (GRCm38)	missense	probably damaging	1.00
IGL01977:Cep350	APN	1	155,911,968 (GRCm38)	missense	probably benign	0.01
IGL02388:Cep350	APN	1	155,953,753 (GRCm38)	missense	probably benign	0.28
IGL02475:Cep350	APN	1	155,862,595 (GRCm38)	missense	probably damaging	1.00
IGL02528:Cep350	APN	1	155,894,615 (GRCm38)	missense	probably damaging	1.00
IGL02598:Cep350	APN	1	155,862,967 (GRCm38)	missense	probably benign	0.00
IGL02676:Cep350	APN	1	155,862,231 (GRCm38)	missense	possibly damaging	0.82
IGL02728:Cep350	APN	1	155,953,222 (GRCm38)	missense	probably benign	0.02
IGL02744:Cep350	APN	1	155,931,533 (GRCm38)	missense	probably damaging	0.98
IGL02817:Cep350	APN	1	155,928,842 (GRCm38)	missense	probably damaging	1.00
IGL02892:Cep350	APN	1	155,868,806 (GRCm38)	missense	possibly damaging	0.51
IGL03156:Cep350	APN	1	155,858,042 (GRCm38)	missense	probably damaging	1.00
IGL03166:Cep350	APN	1	155,863,600 (GRCm38)	missense	possibly damaging	0.78
IGL03216:Cep350	APN	1	155,860,627 (GRCm38)	missense	probably benign	0.06
IGL03268:Cep350	APN	1	155,953,549 (GRCm38)	missense	probably benign	0.16
IGL03358:Cep350	APN	1	155,928,539 (GRCm38)	missense	probably benign
primed	UTSW	1	155,953,588 (GRCm38)	missense	probably damaging	0.98
stoked	UTSW	1	155,915,575 (GRCm38)	missense	probably benign	0.03
NA:Cep350	UTSW	1	155,958,648 (GRCm38)	missense	probably damaging	1.00
R0060:Cep350	UTSW	1	155,928,626 (GRCm38)	missense	probably damaging	1.00
R0060:Cep350	UTSW	1	155,928,626 (GRCm38)	missense	probably damaging	1.00
R0066:Cep350	UTSW	1	155,911,218 (GRCm38)	missense	probably damaging	0.99
R0066:Cep350	UTSW	1	155,911,218 (GRCm38)	missense	probably damaging	0.99
R0172:Cep350	UTSW	1	155,953,447 (GRCm38)	missense	probably benign	0.00
R0365:Cep350	UTSW	1	155,906,571 (GRCm38)	missense	probably benign	0.00
R0472:Cep350	UTSW	1	155,914,723 (GRCm38)	missense	probably damaging	0.99
R0502:Cep350	UTSW	1	155,900,883 (GRCm38)	splice site	probably null
R0538:Cep350	UTSW	1	155,848,620 (GRCm38)	missense	possibly damaging	0.80
R0547:Cep350	UTSW	1	155,901,435 (GRCm38)	splice site	probably null
R0565:Cep350	UTSW	1	155,961,195 (GRCm38)	splice site	probably benign
R0607:Cep350	UTSW	1	155,872,048 (GRCm38)	missense	probably damaging	1.00
R0645:Cep350	UTSW	1	155,940,712 (GRCm38)	splice site	probably null
R0675:Cep350	UTSW	1	155,959,753 (GRCm38)	missense	possibly damaging	0.63
R0828:Cep350	UTSW	1	155,953,246 (GRCm38)	missense	probably benign	0.00
R0863:Cep350	UTSW	1	155,862,235 (GRCm38)	missense	probably benign	0.00
R0969:Cep350	UTSW	1	155,940,826 (GRCm38)	missense	possibly damaging	0.81
R1102:Cep350	UTSW	1	155,931,518 (GRCm38)	missense	probably damaging	1.00
R1186:Cep350	UTSW	1	155,875,376 (GRCm38)	missense	probably damaging	1.00
R1552:Cep350	UTSW	1	155,910,738 (GRCm38)	missense	possibly damaging	0.92
R1560:Cep350	UTSW	1	155,929,079 (GRCm38)	missense	possibly damaging	0.48
R1698:Cep350	UTSW	1	155,953,358 (GRCm38)	missense	possibly damaging	0.62
R1729:Cep350	UTSW	1	155,911,981 (GRCm38)	missense	probably benign	0.17
R1735:Cep350	UTSW	1	155,953,214 (GRCm38)	missense	probably damaging	0.99
R1740:Cep350	UTSW	1	155,928,833 (GRCm38)	missense	probably damaging	1.00
R1783:Cep350	UTSW	1	155,928,865 (GRCm38)	missense	probably damaging	1.00
R1844:Cep350	UTSW	1	155,848,628 (GRCm38)	missense	probably damaging	0.99
R1848:Cep350	UTSW	1	155,953,651 (GRCm38)	missense	probably benign	0.28
R1988:Cep350	UTSW	1	155,933,104 (GRCm38)	missense	possibly damaging	0.82
R2008:Cep350	UTSW	1	155,914,721 (GRCm38)	missense	probably benign	0.16
R2241:Cep350	UTSW	1	155,958,556 (GRCm38)	splice site	probably null
R2245:Cep350	UTSW	1	155,879,020 (GRCm38)	missense	probably benign	0.10
R2402:Cep350	UTSW	1	155,863,136 (GRCm38)	missense	probably benign
R2566:Cep350	UTSW	1	155,959,718 (GRCm38)	critical splice donor site	probably null
R3160:Cep350	UTSW	1	155,863,164 (GRCm38)	missense	probably benign	0.00
R3162:Cep350	UTSW	1	155,863,164 (GRCm38)	missense	probably benign	0.00
R3769:Cep350	UTSW	1	155,953,204 (GRCm38)	missense	probably damaging	1.00
R4035:Cep350	UTSW	1	155,959,795 (GRCm38)	missense	probably benign	0.06
R4158:Cep350	UTSW	1	155,932,875 (GRCm38)	missense	probably damaging	1.00
R4160:Cep350	UTSW	1	155,932,875 (GRCm38)	missense	probably damaging	1.00
R4213:Cep350	UTSW	1	155,935,961 (GRCm38)	missense	probably damaging	1.00
R4483:Cep350	UTSW	1	155,926,468 (GRCm38)	missense	probably benign	0.01
R4648:Cep350	UTSW	1	155,902,598 (GRCm38)	missense	possibly damaging	0.85
R4694:Cep350	UTSW	1	155,928,586 (GRCm38)	missense	probably damaging	1.00
R4836:Cep350	UTSW	1	155,928,833 (GRCm38)	missense	probably damaging	1.00
R4839:Cep350	UTSW	1	155,928,494 (GRCm38)	missense	probably benign	0.00
R4969:Cep350	UTSW	1	155,860,279 (GRCm38)	missense	probably damaging	0.99
R5014:Cep350	UTSW	1	155,928,206 (GRCm38)	missense	probably benign	0.00
R5027:Cep350	UTSW	1	155,933,354 (GRCm38)	missense	probably benign	0.01
R5144:Cep350	UTSW	1	155,911,150 (GRCm38)	missense	probably damaging	0.99
R5153:Cep350	UTSW	1	155,935,946 (GRCm38)	missense	probably damaging	1.00
R5165:Cep350	UTSW	1	155,928,368 (GRCm38)	missense	probably damaging	1.00
R5182:Cep350	UTSW	1	155,858,108 (GRCm38)	missense	probably damaging	1.00
R5445:Cep350	UTSW	1	155,894,723 (GRCm38)	missense	probably benign	0.01
R5738:Cep350	UTSW	1	155,866,078 (GRCm38)	missense	probably damaging	1.00
R5809:Cep350	UTSW	1	155,933,341 (GRCm38)	missense	probably damaging	0.98
R5855:Cep350	UTSW	1	155,953,762 (GRCm38)	missense	probably benign	0.00
R6139:Cep350	UTSW	1	155,953,279 (GRCm38)	missense	probably benign	0.03
R6285:Cep350	UTSW	1	155,953,374 (GRCm38)	missense	possibly damaging	0.48
R6430:Cep350	UTSW	1	155,894,673 (GRCm38)	missense	probably damaging	1.00
R6446:Cep350	UTSW	1	155,862,154 (GRCm38)	missense	probably benign
R6520:Cep350	UTSW	1	155,933,336 (GRCm38)	missense	probably benign	0.02
R6712:Cep350	UTSW	1	155,858,106 (GRCm38)	missense	possibly damaging	0.93
R6940:Cep350	UTSW	1	155,928,551 (GRCm38)	missense	probably benign	0.01
R7020:Cep350	UTSW	1	155,928,331 (GRCm38)	missense	probably damaging	1.00
R7056:Cep350	UTSW	1	155,848,627 (GRCm38)	missense	probably damaging	1.00
R7141:Cep350	UTSW	1	155,914,748 (GRCm38)	missense	probably damaging	1.00
R7215:Cep350	UTSW	1	155,894,707 (GRCm38)	missense	possibly damaging	0.89
R7247:Cep350	UTSW	1	155,910,753 (GRCm38)	missense	probably damaging	1.00
R7272:Cep350	UTSW	1	155,953,588 (GRCm38)	missense	probably damaging	0.98
R7336:Cep350	UTSW	1	155,862,276 (GRCm38)	missense	probably benign	0.17
R7361:Cep350	UTSW	1	155,901,491 (GRCm38)	missense	probably damaging	1.00
R7390:Cep350	UTSW	1	155,866,087 (GRCm38)	missense	possibly damaging	0.94
R7402:Cep350	UTSW	1	155,928,215 (GRCm38)	missense	probably benign	0.00
R7428:Cep350	UTSW	1	155,894,619 (GRCm38)	missense	probably benign	0.00
R7440:Cep350	UTSW	1	155,940,772 (GRCm38)	missense	probably damaging	0.98
R7520:Cep350	UTSW	1	155,915,629 (GRCm38)	missense	probably benign	0.05
R7529:Cep350	UTSW	1	155,861,923 (GRCm38)	missense	probably benign	0.08
R7635:Cep350	UTSW	1	155,879,021 (GRCm38)	nonsense	probably null
R7806:Cep350	UTSW	1	155,862,063 (GRCm38)	missense	probably benign	0.00
R8100:Cep350	UTSW	1	155,953,402 (GRCm38)	missense	probably damaging	0.97
R8192:Cep350	UTSW	1	155,940,783 (GRCm38)	missense	possibly damaging	0.94
R8193:Cep350	UTSW	1	155,862,079 (GRCm38)	missense	probably benign	0.01
R8351:Cep350	UTSW	1	155,872,034 (GRCm38)	missense	probably damaging	0.99
R8406:Cep350	UTSW	1	155,922,418 (GRCm38)	missense	probably benign	0.00
R8451:Cep350	UTSW	1	155,872,034 (GRCm38)	missense	probably damaging	0.99
R8467:Cep350	UTSW	1	155,915,575 (GRCm38)	missense	probably benign	0.03
R8543:Cep350	UTSW	1	155,862,376 (GRCm38)	missense	probably damaging	0.98
R8714:Cep350	UTSW	1	155,860,731 (GRCm38)	missense	probably damaging	0.98
R8810:Cep350	UTSW	1	155,928,116 (GRCm38)	missense	probably damaging	1.00
R8837:Cep350	UTSW	1	155,861,772 (GRCm38)	missense	probably benign	0.09
R8933:Cep350	UTSW	1	155,863,415 (GRCm38)	missense	probably benign	0.01
R9043:Cep350	UTSW	1	155,897,482 (GRCm38)	missense	probably damaging	1.00
R9050:Cep350	UTSW	1	155,862,941 (GRCm38)	missense	possibly damaging	0.81
R9067:Cep350	UTSW	1	155,861,739 (GRCm38)	missense	probably benign	0.00
R9105:Cep350	UTSW	1	155,959,815 (GRCm38)	missense	probably damaging	1.00
R9295:Cep350	UTSW	1	155,862,305 (GRCm38)	nonsense	probably null
R9304:Cep350	UTSW	1	155,953,718 (GRCm38)	missense	probably damaging	0.98
R9456:Cep350	UTSW	1	155,868,711 (GRCm38)	missense	probably benign	0.00
R9575:Cep350	UTSW	1	155,875,367 (GRCm38)	missense	probably benign	0.03
R9715:Cep350	UTSW	1	155,875,361 (GRCm38)	missense	probably benign	0.00
R9749:Cep350	UTSW	1	155,953,239 (GRCm38)	missense	probably benign	0.02
R9758:Cep350	UTSW	1	155,894,687 (GRCm38)	missense	probably damaging	0.96
R9767:Cep350	UTSW	1	155,863,272 (GRCm38)	missense	probably benign	0.01
RF020:Cep350	UTSW	1	155,915,478 (GRCm38)	missense	probably benign	0.34
X0018:Cep350	UTSW	1	155,953,286 (GRCm38)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGCTGGCCCTGATTTATAGAG -3'
(R):5'- CCTTGGCAGAGTTGATGGTAGC -3'

Sequencing Primer
(F):5'- GCCCTGATTTATAGAGTTCTTGAATG -3'
(R):5'- AGCAGCTTGGGCGTTCAG -3'

Posted On

2017-08-16