Mutagenetix > Incidental Mutation

Incidental Mutation 'R0019:Cep120'

15431

Institutional Source

Beutler Lab

Gene Symbol

Cep120

Ensembl Gene

ENSMUSG00000048799

Gene Name

centrosomal protein 120

Synonyms

Ccdc100

MMRRC Submission

038314-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.777) question?

Stock #

R0019 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

53681724-53744547 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 53709047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000062433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049811]

AlphaFold

Q7TSG1

Predicted Effect

probably benign
Transcript: ENSMUST00000049811

SMART Domains

Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799

Domain	Start	End	E-Value	Type
Pfam:C2	9	114	4.8e-5	PFAM
Pfam:DUF3668	118	340	1e-96	PFAM
low complexity region	378	396	N/A	INTRINSIC
Pfam:C2	520	568	1.9e-3	PFAM
low complexity region	632	642	N/A	INTRINSIC
SCOP:d1eq1a_	661	803	2e-4	SMART

Coding Region Coverage

1x: 83.5%
3x: 78.2%
10x: 64.4%
20x: 48.4%

Validation Efficiency

91% (93/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth arrest at E8.5 and die during organogenesis exhibiting abnormal direction of heart looping. Primary mouse embryonic fibroblasts lack cilia and either one or both centrioles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13a	T	A	5: 114,786,081		probably benign	Het
Arhgef12	A	T	9: 42,978,233	W1029R	probably damaging	Het
Aunip	T	A	4: 134,523,512	L256*	probably null	Het
Bahcc1	T	A	11: 120,289,771	M2607K	probably damaging	Het
Cacng6	G	T	7: 3,431,868	M152I	possibly damaging	Het
D130043K22Rik	T	A	13: 24,880,812	V737D	probably damaging	Het
Dock10	A	G	1: 80,605,925	S187P	probably damaging	Het
Eogt	C	T	6: 97,134,273		probably benign	Het
Fasn	A	T	11: 120,807,998		probably benign	Het
Frem2	C	T	3: 53,523,678	V2745M	probably damaging	Het
Fshb	T	C	2: 107,057,345	S110G	probably benign	Het
Gpi1	A	G	7: 34,220,899	Y144H	probably damaging	Het
Gsap	T	C	5: 21,270,622		probably benign	Het
Helz2	C	A	2: 181,232,759	G1981C	probably damaging	Het
Herc3	T	C	6: 58,885,065		probably benign	Het
Il1r2	C	T	1: 40,125,050	T359M	probably damaging	Het
Il6st	T	C	13: 112,501,148	C563R	possibly damaging	Het
Irs1	T	A	1: 82,287,256	K1080*	probably null	Het
Itpr1	T	C	6: 108,354,626	V182A	probably damaging	Het
Kalrn	C	T	16: 34,198,514		probably benign	Het
Kcnj11	G	A	7: 46,098,939	A320V	probably benign	Het
Lrig1	T	A	6: 94,607,349	R905*	probably null	Het
Lrrc43	T	C	5: 123,501,315	L469P	probably damaging	Het
Med29	A	T	7: 28,391,076		probably benign	Het
Mroh7	T	C	4: 106,721,426	I18M	probably benign	Het
Nalcn	A	C	14: 123,507,489	C376G	probably benign	Het
Ncor2	C	T	5: 125,119,481		probably null	Het
Nek1	T	A	8: 61,089,734	M786K	probably benign	Het
Nrxn2	A	G	19: 6,509,957		probably benign	Het
Nxpe2	T	C	9: 48,319,780	I430V	probably benign	Het
Pcolce2	A	G	9: 95,694,964		probably null	Het
Pdcl	A	T	2: 37,351,920	L273M	probably damaging	Het
Pml	A	T	9: 58,220,493	S610R	probably damaging	Het
Polk	C	A	13: 96,504,616	R144S	probably damaging	Het
Rlf	A	G	4: 121,146,572	V1737A	possibly damaging	Het
Rubcnl	T	A	14: 75,048,263		probably benign	Het
Scn3a	A	T	2: 65,461,701	V1567E	probably damaging	Het
Scyl2	A	G	10: 89,659,321	I296T	probably benign	Het
Slc15a3	A	G	19: 10,856,040	I474V	probably damaging	Het
Sstr1	T	C	12: 58,213,149	L186S	probably damaging	Het
Tmem108	A	T	9: 103,489,340	V484D	possibly damaging	Het
Trim69	A	T	2: 122,174,477		probably null	Het
Trim80	T	G	11: 115,447,942	Y533D	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,775,969	T5A	probably damaging	Het
Unc13b	T	C	4: 43,096,990	I121T	possibly damaging	Het
Usp40	T	C	1: 87,978,411	T701A	probably benign	Het
Xpr1	A	G	1: 155,332,399		probably benign	Het
Ywhab	T	A	2: 164,016,170	I219N	probably damaging	Het
Zfp219	G	T	14: 52,009,028	T169K	probably damaging	Het

Other mutations in Cep120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Cep120	APN	18	53685961	missense	probably benign	0.24
IGL01774:Cep120	APN	18	53706830	missense	possibly damaging	0.92
IGL01862:Cep120	APN	18	53714767	missense	probably benign	0.01
IGL01906:Cep120	APN	18	53714912	missense	probably benign
IGL01941:Cep120	APN	18	53723148	missense	probably benign	0.00
IGL02952:Cep120	APN	18	53683228	utr 3 prime	probably benign
IGL03248:Cep120	APN	18	53735772	missense	probably benign	0.04
IGL03379:Cep120	APN	18	53709136	missense	probably benign
R0039:Cep120	UTSW	18	53685961	missense	probably benign	0.24
R0763:Cep120	UTSW	18	53721737	missense	probably benign	0.00
R1015:Cep120	UTSW	18	53703121	critical splice donor site	probably null
R1340:Cep120	UTSW	18	53724391	missense	probably damaging	1.00
R1507:Cep120	UTSW	18	53697657	missense	probably damaging	0.99
R1649:Cep120	UTSW	18	53724576	missense	probably damaging	1.00
R1727:Cep120	UTSW	18	53727729	missense	probably benign	0.01
R1739:Cep120	UTSW	18	53719214	critical splice donor site	probably null
R1873:Cep120	UTSW	18	53738488	missense	probably damaging	0.98
R1913:Cep120	UTSW	18	53723286	missense	probably benign	0.26
R1968:Cep120	UTSW	18	53723241	missense	probably benign	0.42
R1995:Cep120	UTSW	18	53740136	missense	probably damaging	1.00
R2042:Cep120	UTSW	18	53735742	missense	possibly damaging	0.50
R2074:Cep120	UTSW	18	53719312	missense	possibly damaging	0.83
R2116:Cep120	UTSW	18	53740136	missense	probably damaging	1.00
R2215:Cep120	UTSW	18	53727635	missense	probably damaging	1.00
R2697:Cep120	UTSW	18	53740125	missense	probably benign	0.00
R3813:Cep120	UTSW	18	53740212	splice site	probably benign
R4012:Cep120	UTSW	18	53738582	missense	probably damaging	0.99
R4368:Cep120	UTSW	18	53685885	splice site	probably null
R4615:Cep120	UTSW	18	53714841	missense	probably damaging	1.00
R4772:Cep120	UTSW	18	53718489	missense	probably damaging	1.00
R4780:Cep120	UTSW	18	53724536	missense	probably benign	0.12
R5195:Cep120	UTSW	18	53721698	missense	probably damaging	1.00
R5991:Cep120	UTSW	18	53721798	missense	probably benign
R6156:Cep120	UTSW	18	53703223	missense	probably benign	0.00
R6188:Cep120	UTSW	18	53724457	missense	probably benign	0.03
R6688:Cep120	UTSW	18	53724536	missense	probably benign	0.12
R6961:Cep120	UTSW	18	53703205	nonsense	probably null
R7143:Cep120	UTSW	18	53683385	missense	probably benign	0.00
R7282:Cep120	UTSW	18	53740089	missense	probably damaging	1.00
R7813:Cep120	UTSW	18	53738506	missense	probably damaging	1.00
R7818:Cep120	UTSW	18	53723103	missense	probably benign
R8677:Cep120	UTSW	18	53738561	missense	possibly damaging	0.90
R8724:Cep120	UTSW	18	53723127	missense	possibly damaging	0.88
R9164:Cep120	UTSW	18	53719246	missense	probably benign	0.02
R9225:Cep120	UTSW	18	53706824	missense	probably benign	0.00
R9300:Cep120	UTSW	18	53719297	missense	probably damaging	0.99
R9312:Cep120	UTSW	18	53727641	missense	probably benign	0.08
R9377:Cep120	UTSW	18	53718520	missense	possibly damaging	0.66
R9390:Cep120	UTSW	18	53706912	nonsense	probably null
R9499:Cep120	UTSW	18	53685961	missense	possibly damaging	0.94
R9551:Cep120	UTSW	18	53685961	missense	possibly damaging	0.94

Posted On

2012-12-21