Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01906:Cep120'

179682

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep120

Ensembl Gene

ENSMUSG00000048799

Gene Name

centrosomal protein 120

Synonyms

Ccdc100

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.791) question?

Stock #

IGL01906

Quality Score

Status

Chromosome

Chromosomal Location

53681724-53744547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53714912 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 625 (V625E)

Ref Sequence

ENSEMBL: ENSMUSP00000062433 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000049811
AA Change: V625E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: V625E

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

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,216,225	Q24L	probably damaging	Het
Adam1b	A	T	5: 121,501,475	N502K	probably benign	Het
Adam6a	T	A	12: 113,544,331	M108K	probably benign	Het
Akr1b10	A	G	6: 34,387,811	K69R	probably benign	Het
Ap5b1	T	A	19: 5,570,979	L809*	probably null	Het
Asxl3	A	T	18: 22,522,281	H1116L	probably benign	Het
Birc6	A	G	17: 74,638,358	T2794A	probably damaging	Het
Bst1	T	C	5: 43,837,519	F248L	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Cgnl1	T	C	9: 71,724,567	M501V	probably benign	Het
Col19a1	T	A	1: 24,317,429	D661V	probably damaging	Het
Copb2	A	T	9: 98,580,330	E456V	probably benign	Het
Csk	A	G	9: 57,629,021	I201T	probably damaging	Het
Cttnbp2	G	T	6: 18,378,376	S977*	probably null	Het
Ddr2	A	G	1: 169,982,099	W770R	probably damaging	Het
Dnah7b	T	C	1: 46,175,453	I1126T	probably damaging	Het
Dusp27	A	C	1: 166,099,523	L840R	probably damaging	Het
Ephb4	A	T	5: 137,361,194	E342V	probably damaging	Het
Erc2	T	A	14: 28,141,306	L496Q	probably damaging	Het
Faim2	G	A	15: 99,514,433	T140I	probably damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Haus3	A	C	5: 34,168,323		probably benign	Het
Hmcn1	T	C	1: 150,667,887	T2846A	probably benign	Het
Mto1	T	C	9: 78,464,931	V561A	probably benign	Het
Myb	T	C	10: 21,152,634	Y110C	probably damaging	Het
Olfr1280	T	C	2: 111,315,901	C141R	probably damaging	Het
Plcd3	T	C	11: 103,076,856	Y420C	probably damaging	Het
Plk4	G	T	3: 40,810,381	M603I	probably null	Het
Scgb1b24	T	C	7: 33,744,113	C66R	probably damaging	Het
Sec23a	T	C	12: 59,007,044	Y56C	probably damaging	Het
Setd1b	C	A	5: 123,157,667	D1099E	unknown	Het
Sh2d7	G	A	9: 54,539,466		probably benign	Het
Slc30a10	A	T	1: 185,456,396	K221*	probably null	Het
Slc5a1	T	C	5: 33,154,653	L463P	probably damaging	Het
Strc	T	C	2: 121,377,634	T419A	probably benign	Het
Ttc39a	T	C	4: 109,421,394	M82T	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps13b	T	C	15: 35,639,847		probably benign	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
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
R0019:Cep120	UTSW	18	53709047	splice site	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

Posted On

2014-05-07