Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Cep120'

181160

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep120

Ensembl Gene

ENSMUSG00000048799

Gene Name

centrosomal protein 120

Synonyms

Ccdc100

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.741) question?

Stock #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

53681724-53744547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53723148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 399 (D399G)

Ref Sequence

ENSEMBL: ENSMUSP00000062433 (fasta)

Gene Model

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

AlphaFold

Q7TSG1

Predicted Effect

probably benign
Transcript: ENSMUST00000049811
AA Change: D399G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: D399G

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,044,801	L123Q	probably benign	Het
Abca2	C	T	2: 25,443,095	S1602F	probably benign	Het
Abcc9	C	A	6: 142,605,904	C1191F	probably damaging	Het
Adam3	G	T	8: 24,681,446		probably benign	Het
Aldh1l1	G	T	6: 90,562,695	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,485,937	N57D	possibly damaging	Het
Asic1	A	T	15: 99,699,101	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,403,898	I233T	probably benign	Het
Ccdc129	A	G	6: 55,968,045	R584G	probably benign	Het
Ccdc185	G	T	1: 182,748,204	Q307K	probably benign	Het
Cnn2	G	A	10: 79,992,554	V122M	probably benign	Het
Dgkd	T	C	1: 87,924,559	S472P	probably damaging	Het
Dock5	A	C	14: 67,812,232	I701S	probably damaging	Het
Efl1	A	G	7: 82,697,976	E570G	probably benign	Het
Eln	G	A	5: 134,718,170		probably benign	Het
Fat2	A	G	11: 55,312,005	V81A	probably benign	Het
Fbxw21	T	G	9: 109,148,156	I162L	probably benign	Het
Fhl2	G	A	1: 43,131,672	Q161*	probably null	Het
Gabrg2	A	G	11: 41,971,721	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm7714	A	G	5: 88,282,442	S66G	probably benign	Het
Grik5	A	T	7: 25,065,182	I152N	probably damaging	Het
H2-Ab1	A	T	17: 34,267,434	K156*	probably null	Het
Hecw1	T	C	13: 14,316,310	Y699C	probably benign	Het
Ipo9	A	C	1: 135,408,073	V202G	possibly damaging	Het
Jmjd6	A	T	11: 116,841,358		probably null	Het
Lama5	A	G	2: 180,192,392	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,952,261		probably benign	Het
Mavs	T	C	2: 131,246,605	V443A	probably damaging	Het
Mpdz	A	T	4: 81,286,387	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,638,584	S2059A	probably benign	Het
Olfr1251	A	T	2: 89,667,468	C139*	probably null	Het
Otud7b	G	T	3: 96,155,459	G672C	probably benign	Het
Palld	T	A	8: 61,535,700	T572S	probably benign	Het
Pde6b	T	A	5: 108,423,036	V379E	probably benign	Het
Peak1	A	G	9: 56,258,775	V623A	probably damaging	Het
Prr12	C	T	7: 45,048,659		probably benign	Het
Rxra	T	C	2: 27,754,241	I315T	probably damaging	Het
Slc11a1	C	T	1: 74,377,179	A55V	probably damaging	Het
Slitrk3	T	C	3: 73,051,071	N123D	possibly damaging	Het
Spcs1	A	G	14: 31,000,872	M82T	probably damaging	Het
Sspo	A	G	6: 48,495,182	E113G	probably benign	Het
Syne2	A	G	12: 75,967,220	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,634,660	S310P	probably benign	Het
Ubp1	T	C	9: 113,956,758	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,293,699	C169*	probably null	Het
Vmn1r223	T	A	13: 23,250,237	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 108,995,954	I710N	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdr26	A	G	1: 181,211,070		probably benign	Het
Wnt7a	A	G	6: 91,394,663	F106L	probably benign	Het
Zfp940	C	T	7: 29,846,870	V34M	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
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
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

2014-05-07