Mutagenetix > Incidental Mutation

Incidental Mutation 'R0039:Cep120'

15432

Institutional Source

Beutler Lab

Gene Symbol

Cep120

Ensembl Gene

ENSMUSG00000048799

Gene Name

centrosomal protein 120

Synonyms

Ccdc100

MMRRC Submission

038333-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R0039 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

53814795-53877680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53819033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 886 (R886H)

Ref Sequence

ENSEMBL: ENSMUSP00000062433 (fasta)

Gene Model

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

AlphaFold

Q7TSG1

Predicted Effect

probably benign
Transcript: ENSMUST00000049811
AA Change: R886H

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: R886H

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

Meta Mutation Damage Score

0.1520

Coding Region Coverage

1x: 82.5%
3x: 74.4%
10x: 54.3%
20x: 37.4%

Validation Efficiency

95% (60/63)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	C	T	12: 52,565,518 (GRCm39)	Q830*	probably null	Het
Atic	A	T	1: 71,617,009 (GRCm39)	E523V	possibly damaging	Het
Cass4	T	A	2: 172,268,900 (GRCm39)	F329L	probably damaging	Het
Cdk17	A	T	10: 93,062,640 (GRCm39)		probably benign	Het
Cep170	A	C	1: 176,610,061 (GRCm39)		probably null	Het
Dsg3	A	G	18: 20,654,541 (GRCm39)	K82E	probably benign	Het
Dtd1	C	T	2: 144,588,896 (GRCm39)	R185W	probably damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Hectd1	T	G	12: 51,800,608 (GRCm39)	E2070A	possibly damaging	Het
Ifit1bl2	T	A	19: 34,596,846 (GRCm39)	K257*	probably null	Het
Ighv8-5	T	A	12: 115,031,207 (GRCm39)	T111S	possibly damaging	Het
Lmtk2	G	T	5: 144,103,205 (GRCm39)	L321F	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mfn1	T	C	3: 32,592,416 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mroh8	T	C	2: 157,071,849 (GRCm39)	H552R	possibly damaging	Het
Myh2	T	A	11: 67,069,103 (GRCm39)	L304Q	probably damaging	Het
Prune1	T	A	3: 95,169,678 (GRCm39)	T175S	probably damaging	Het
Rdh10	C	T	1: 16,199,508 (GRCm39)	T238I	probably damaging	Het
Rlf	T	A	4: 121,004,039 (GRCm39)	H1647L	possibly damaging	Het
Rreb1	C	T	13: 38,083,613 (GRCm39)	T92M	probably damaging	Het
Scn9a	A	T	2: 66,392,788 (GRCm39)	M268K	probably damaging	Het
Sec16a	A	G	2: 26,313,926 (GRCm39)	V1893A	probably benign	Het
Snd1	T	A	6: 28,745,209 (GRCm39)	L518Q	probably damaging	Het
Stat1	T	A	1: 52,179,819 (GRCm39)	V343D	probably damaging	Het
Topors	A	G	4: 40,262,772 (GRCm39)	S171P	probably damaging	Het
Tubd1	C	T	11: 86,440,221 (GRCm39)	Q82*	probably null	Het
Unc13c	A	G	9: 73,576,847 (GRCm39)		probably benign	Het
Wdr43	G	T	17: 71,960,487 (GRCm39)	G590*	probably null	Het

Other mutations in Cep120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Cep120	APN	18	53,819,033 (GRCm39)	missense	probably benign	0.24
IGL01774:Cep120	APN	18	53,839,902 (GRCm39)	missense	possibly damaging	0.92
IGL01862:Cep120	APN	18	53,847,839 (GRCm39)	missense	probably benign	0.01
IGL01906:Cep120	APN	18	53,847,984 (GRCm39)	missense	probably benign
IGL01941:Cep120	APN	18	53,856,220 (GRCm39)	missense	probably benign	0.00
IGL02952:Cep120	APN	18	53,816,300 (GRCm39)	utr 3 prime	probably benign
IGL03248:Cep120	APN	18	53,868,844 (GRCm39)	missense	probably benign	0.04
IGL03379:Cep120	APN	18	53,842,208 (GRCm39)	missense	probably benign
R0019:Cep120	UTSW	18	53,842,119 (GRCm39)	splice site	probably benign
R0763:Cep120	UTSW	18	53,854,809 (GRCm39)	missense	probably benign	0.00
R1015:Cep120	UTSW	18	53,836,193 (GRCm39)	critical splice donor site	probably null
R1340:Cep120	UTSW	18	53,857,463 (GRCm39)	missense	probably damaging	1.00
R1507:Cep120	UTSW	18	53,830,729 (GRCm39)	missense	probably damaging	0.99
R1649:Cep120	UTSW	18	53,857,648 (GRCm39)	missense	probably damaging	1.00
R1727:Cep120	UTSW	18	53,860,801 (GRCm39)	missense	probably benign	0.01
R1739:Cep120	UTSW	18	53,852,286 (GRCm39)	critical splice donor site	probably null
R1873:Cep120	UTSW	18	53,871,560 (GRCm39)	missense	probably damaging	0.98
R1913:Cep120	UTSW	18	53,856,358 (GRCm39)	missense	probably benign	0.26
R1968:Cep120	UTSW	18	53,856,313 (GRCm39)	missense	probably benign	0.42
R1995:Cep120	UTSW	18	53,873,208 (GRCm39)	missense	probably damaging	1.00
R2042:Cep120	UTSW	18	53,868,814 (GRCm39)	missense	possibly damaging	0.50
R2074:Cep120	UTSW	18	53,852,384 (GRCm39)	missense	possibly damaging	0.83
R2116:Cep120	UTSW	18	53,873,208 (GRCm39)	missense	probably damaging	1.00
R2215:Cep120	UTSW	18	53,860,707 (GRCm39)	missense	probably damaging	1.00
R2697:Cep120	UTSW	18	53,873,197 (GRCm39)	missense	probably benign	0.00
R3813:Cep120	UTSW	18	53,873,284 (GRCm39)	splice site	probably benign
R4012:Cep120	UTSW	18	53,871,654 (GRCm39)	missense	probably damaging	0.99
R4368:Cep120	UTSW	18	53,818,957 (GRCm39)	splice site	probably null
R4615:Cep120	UTSW	18	53,847,913 (GRCm39)	missense	probably damaging	1.00
R4772:Cep120	UTSW	18	53,851,561 (GRCm39)	missense	probably damaging	1.00
R4780:Cep120	UTSW	18	53,857,608 (GRCm39)	missense	probably benign	0.12
R5195:Cep120	UTSW	18	53,854,770 (GRCm39)	missense	probably damaging	1.00
R5991:Cep120	UTSW	18	53,854,870 (GRCm39)	missense	probably benign
R6156:Cep120	UTSW	18	53,836,295 (GRCm39)	missense	probably benign	0.00
R6188:Cep120	UTSW	18	53,857,529 (GRCm39)	missense	probably benign	0.03
R6688:Cep120	UTSW	18	53,857,608 (GRCm39)	missense	probably benign	0.12
R6961:Cep120	UTSW	18	53,836,277 (GRCm39)	nonsense	probably null
R7143:Cep120	UTSW	18	53,816,457 (GRCm39)	missense	probably benign	0.00
R7282:Cep120	UTSW	18	53,873,161 (GRCm39)	missense	probably damaging	1.00
R7813:Cep120	UTSW	18	53,871,578 (GRCm39)	missense	probably damaging	1.00
R7818:Cep120	UTSW	18	53,856,175 (GRCm39)	missense	probably benign
R8677:Cep120	UTSW	18	53,871,633 (GRCm39)	missense	possibly damaging	0.90
R8724:Cep120	UTSW	18	53,856,199 (GRCm39)	missense	possibly damaging	0.88
R9164:Cep120	UTSW	18	53,852,318 (GRCm39)	missense	probably benign	0.02
R9225:Cep120	UTSW	18	53,839,896 (GRCm39)	missense	probably benign	0.00
R9300:Cep120	UTSW	18	53,852,369 (GRCm39)	missense	probably damaging	0.99
R9312:Cep120	UTSW	18	53,860,713 (GRCm39)	missense	probably benign	0.08
R9377:Cep120	UTSW	18	53,851,592 (GRCm39)	missense	possibly damaging	0.66
R9390:Cep120	UTSW	18	53,839,984 (GRCm39)	nonsense	probably null
R9499:Cep120	UTSW	18	53,819,033 (GRCm39)	missense	possibly damaging	0.94
R9551:Cep120	UTSW	18	53,819,033 (GRCm39)	missense	possibly damaging	0.94

Posted On

2012-12-21