Mutagenetix > Incidental Mutation

Incidental Mutation 'R7390:Cep350'

573338

Institutional Source

Beutler Lab

Gene Symbol

Cep350

Ensembl Gene

ENSMUSG00000033671

Gene Name

centrosomal protein 350

Synonyms

4933409L06Rik, 6430546F08Rik

MMRRC Submission

045472-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7390 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155720710-155849001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155741833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2146 (E2146G)

Ref Sequence

ENSEMBL: ENSMUSP00000120085 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138762
AA Change: E2146G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: E2146G

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,152 (GRCm39)	D291E	probably benign	Het
Abca9	C	T	11: 110,036,487 (GRCm39)	V541I	probably benign	Het
Adamts15	A	T	9: 30,822,404 (GRCm39)		probably null	Het
Adgrg7	A	G	16: 56,553,207 (GRCm39)	I630T	probably damaging	Het
Ahnak	A	G	19: 8,980,569 (GRCm39)	I618V	probably benign	Het
Amotl2	T	A	9: 102,608,889 (GRCm39)	V801E	probably damaging	Het
Ankrd17	T	C	5: 90,430,779 (GRCm39)	T1002A	probably benign	Het
Bmp7	C	T	2: 172,711,998 (GRCm39)	D409N	probably damaging	Het
Bpifb2	A	G	2: 153,731,726 (GRCm39)	N293S	possibly damaging	Het
Ccdc162	A	G	10: 41,510,044 (GRCm39)	C854R	probably benign	Het
Ccdc171	A	G	4: 83,736,304 (GRCm39)	E1225G	probably damaging	Het
Ces1a	A	C	8: 93,771,469 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,368,925 (GRCm39)	D444E	probably benign	Het
Cfap61	T	C	2: 145,843,802 (GRCm39)	V296A	probably benign	Het
Cgnl1	C	T	9: 71,552,931 (GRCm39)	R1011H	probably benign	Het
Cops4	C	T	5: 100,691,741 (GRCm39)	R347C	probably damaging	Het
D16Ertd472e	G	T	16: 78,344,576 (GRCm39)	D177E	probably benign	Het
Dcdc2a	T	C	13: 25,291,600 (GRCm39)	V195A	possibly damaging	Het
Dipk2a	A	G	9: 94,419,436 (GRCm39)	S165P	probably damaging	Het
Dpagt1	G	A	9: 44,243,319 (GRCm39)	V285I	probably benign	Het
Dspp	G	T	5: 104,323,552 (GRCm39)	A232S	probably damaging	Het
Efcab3	T	C	11: 104,615,411 (GRCm39)	I726T	possibly damaging	Het
Ephx2	G	A	14: 66,347,904 (GRCm39)			Het
Fat1	T	C	8: 45,405,511 (GRCm39)	V754A	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Gldc	A	T	19: 30,077,314 (GRCm39)	S953T	possibly damaging	Het
Gm1123	T	C	9: 98,893,033 (GRCm39)	N315S	probably benign	Het
Golga2	A	G	2: 32,178,202 (GRCm39)	E37G		Het
Gpr139	T	A	7: 118,743,835 (GRCm39)	Q250L	probably benign	Het
Grik3	C	T	4: 125,543,532 (GRCm39)	R283C	probably damaging	Het
Haao	A	C	17: 84,154,081 (GRCm39)	V22G	probably damaging	Het
Hspg2	T	A	4: 137,266,490 (GRCm39)	F1884I	probably damaging	Het
Hyal3	G	A	9: 107,462,166 (GRCm39)	G67S	probably damaging	Het
Kbtbd3	T	A	9: 4,330,424 (GRCm39)	I266K	probably benign	Het
Klhl26	A	C	8: 70,905,499 (GRCm39)	L137R	probably damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lars1	A	G	18: 42,343,083 (GRCm39)		probably null	Het
Lats1	C	T	10: 7,577,859 (GRCm39)	Q328*	probably null	Het
Lingo3	G	A	10: 80,670,463 (GRCm39)	T489I	probably damaging	Het
Lmtk2	T	C	5: 144,066,261 (GRCm39)	V65A	possibly damaging	Het
Lysmd1	T	C	3: 95,045,795 (GRCm39)	S211P	probably damaging	Het
Med15	C	T	16: 17,540,626 (GRCm39)	S21N	unknown	Het
Nav1	T	C	1: 135,512,656 (GRCm39)	T135A	probably benign	Het
Nt5c1a	G	C	4: 123,102,272 (GRCm39)	R66T	probably benign	Het
Pclo	T	C	5: 14,732,024 (GRCm39)	Y3509H	unknown	Het
Pkp4	G	A	2: 59,140,484 (GRCm39)	G397R	possibly damaging	Het
Ppp1r21	G	A	17: 88,856,958 (GRCm39)	A138T	probably benign	Het
Pum3	A	T	19: 27,401,642 (GRCm39)	V136D	probably benign	Het
Rab11fip3	A	T	17: 26,287,126 (GRCm39)	D342E	possibly damaging	Het
Rcvrn	T	A	11: 67,590,883 (GRCm39)	W156R	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Serpina1d	T	C	12: 103,734,037 (GRCm39)	D89G	possibly damaging	Het
Sgsm3	T	A	15: 80,893,021 (GRCm39)	V366E	possibly damaging	Het
Shank3	T	G	15: 89,433,515 (GRCm39)	L1420R	probably benign	Het
Sirpb1b	A	T	3: 15,608,100 (GRCm39)	L215*	probably null	Het
Slc16a13	C	T	11: 70,109,797 (GRCm39)	V235I	probably benign	Het
Slc16a14	T	C	1: 84,907,187 (GRCm39)	D29G	probably benign	Het
Speer1a	T	C	5: 11,394,879 (GRCm39)	V122A	probably benign	Het
Spns2	T	A	11: 72,347,704 (GRCm39)	T329S	possibly damaging	Het
Sufu	G	A	19: 46,439,108 (GRCm39)		probably null	Het
Tll2	A	G	19: 41,108,608 (GRCm39)		probably null	Het
Trim10	G	A	17: 37,180,773 (GRCm39)	M1I	probably null	Het
Trim42	A	C	9: 97,241,182 (GRCm39)	N683K	probably damaging	Het
Trmt5	A	G	12: 73,328,394 (GRCm39)	S270P	probably damaging	Het
Vmn1r59	C	A	7: 5,456,986 (GRCm39)	R258L	possibly damaging	Het
Vmn2r32	A	G	7: 7,482,851 (GRCm39)	L41S	probably benign	Het
Vmn2r93	A	T	17: 18,525,329 (GRCm39)	E329V	probably damaging	Het
Ywhae	G	T	11: 75,655,487 (GRCm39)	E253*	probably null	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
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'- GCCCAAGAGTTTCTCTTCAGAG -3'
(R):5'- CTGATGCCTCATGGTCTCTG -3'

Sequencing Primer
(F):5'- ATCCTGTCAGTAACCAGTCTGAG -3'
(R):5'- GTCTCATTGAGTTTATCCACAGAG -3'

Posted On

2019-09-13