Mutagenetix > Incidental Mutation

Incidental Mutation 'R9225:Cep120'

699827

Institutional Source

Beutler Lab

Gene Symbol

Cep120

Ensembl Gene

ENSMUSG00000048799

Gene Name

centrosomal protein 120

Synonyms

Ccdc100

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.741) question?

Stock #

R9225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53681724-53744547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53706824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 788 (Q788R)

Ref Sequence

ENSEMBL: ENSMUSP00000062433 (fasta)

Gene Model

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

AlphaFold

Q7TSG1

Predicted Effect

probably benign
Transcript: ENSMUST00000049811
AA Change: Q788R

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

SMART Domains

Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: Q788R

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	T	5: 87,972,574	V397L	probably benign	Het
Adam26b	G	T	8: 43,520,416	Y516*	probably null	Het
Afap1	A	G	5: 35,976,624	K468E	possibly damaging	Het
Ank2	A	G	3: 126,942,462	S3258P	unknown	Het
Ap1g1	A	G	8: 109,858,877	K783E	probably benign	Het
Apbb1	A	G	7: 105,568,856	S20P		Het
Atg13	T	C	2: 91,688,783		probably null	Het
Atg16l2	A	G	7: 101,301,981	V16A	probably benign	Het
Atp11a	G	A	8: 12,817,005	R144Q	probably benign	Het
Avpr1a	A	T	10: 122,449,561	T253S	probably benign	Het
B4galnt3	T	C	6: 120,218,967	T300A	probably damaging	Het
Bag4	A	G	8: 25,771,242	V157A	probably benign	Het
Brsk2	A	G	7: 141,993,302	H494R	probably damaging	Het
Cacna2d2	G	A	9: 107,526,204	G955S	probably benign	Het
Ccdc42	A	T	11: 68,588,235	E83V	probably damaging	Het
Cnbd1	A	G	4: 18,907,010	I188T	probably benign	Het
Col6a6	C	T	9: 105,782,238	E503K	possibly damaging	Het
Cpt1c	A	T	7: 44,960,789	L661H	probably damaging	Het
Cyp2a22	T	C	7: 26,937,777	D194G	possibly damaging	Het
Cyp2c70	C	A	19: 40,180,468	R125L	probably damaging	Het
Cyp3a41a	A	T	5: 145,713,604	D76E	probably benign	Het
Cyp4f13	A	T	17: 32,925,345	I458N	probably damaging	Het
Cyp4f13	T	C	17: 32,929,201	Q350R	probably damaging	Het
Ddx60	G	A	8: 62,017,841	V1456I	probably benign	Het
Dgkh	T	C	14: 78,725,067	H8R	probably damaging	Het
Diaph3	A	G	14: 87,007,324		probably null	Het
Dnah8	A	C	17: 30,635,673	D103A	probably benign	Het
Dock4	G	A	12: 40,829,670	R1551Q	probably benign	Het
Eps8	A	T	6: 137,530,563	S56T	probably benign	Het
Fam171b	T	A	2: 83,880,042	L686Q	probably damaging	Het
Fndc3b	A	C	3: 27,456,531	L814*	probably null	Het
Gcnt2	T	A	13: 40,860,860	L169Q	probably damaging	Het
Gm21103	T	A	14: 6,303,883	I56F	possibly damaging	Het
Gpc1	A	T	1: 92,856,020	K276N	probably damaging	Het
Hivep1	T	A	13: 42,183,708	V2421D	probably damaging	Het
Hoxb1	T	C	11: 96,366,293	L156P	probably benign	Het
Ifi208	A	G	1: 173,690,728	D467G	possibly damaging	Het
Klhl22	A	G	16: 17,776,753	M249V	probably damaging	Het
Kmt2b	A	G	7: 30,586,747	V240A	unknown	Het
Lacc1	A	T	14: 77,034,974	Y127*	probably null	Het
Lgr4	C	A	2: 110,012,140	H823Q	probably benign	Het
Llgl1	T	C	11: 60,710,063	S662P	probably damaging	Het
Lrrc1	G	A	9: 77,452,673	T279I	probably benign	Het
Lrrc8e	T	A	8: 4,234,561	V262E	probably damaging	Het
Magi1	G	T	6: 93,785,530	P292T	possibly damaging	Het
Mccc1	T	A	3: 35,964,362	I608F	probably benign	Het
Mroh8	T	A	2: 157,265,090	I220L	probably damaging	Het
Mycn	C	A	12: 12,937,608	D263Y	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ncoa6	T	A	2: 155,407,521	I1288F	possibly damaging	Het
Nebl	A	G	2: 17,400,511	I399T	possibly damaging	Het
Neurod1	A	T	2: 79,454,387	H217Q	probably benign	Het
Nlrp5	T	C	7: 23,417,946	V365A	probably benign	Het
Olfr1452-ps1	A	G	19: 13,017,006	*261W	probably null	Het
Olfr1452-ps1	G	C	19: 13,017,007	*261Y	probably null	Het
Olfr20	C	A	11: 73,353,769	N5K	probably damaging	Het
Olfr693	A	G	7: 106,677,769	V239A	probably benign	Het
Otud7a	A	G	7: 63,757,721	T591A	possibly damaging	Het
Pbx3	T	C	2: 34,370,926		probably benign	Het
Pcdhb4	A	T	18: 37,308,642	Q335L	possibly damaging	Het
Plxnc1	C	A	10: 94,793,199	C1571F	probably damaging	Het
Pola2	G	A	19: 5,950,464	P330S	probably benign	Het
Ppm1l	A	T	3: 69,552,911	N274Y	probably benign	Het
Ppp4r3b	A	G	11: 29,205,648	D538G	possibly damaging	Het
Ptx4	C	T	17: 25,122,722	T57I	probably benign	Het
Rchy1	A	T	5: 91,957,537	C108*	probably null	Het
Rif1	A	G	2: 52,111,850	E130G	probably benign	Het
Rmdn1	A	T	4: 19,601,385	Y219F	probably damaging	Het
Rnf144a	A	G	12: 26,327,607	C46R	probably damaging	Het
Rpl13a	C	A	7: 45,126,203	G146V	probably damaging	Het
Rpl13a	C	A	7: 45,126,204	G146W	probably damaging	Het
Rtn3	A	T	19: 7,457,489	N379K	probably damaging	Het
Sdc1	G	T	12: 8,771,817	R19L	unknown	Het
Shank1	A	G	7: 44,334,046	I651V	unknown	Het
Slamf6	T	C	1: 171,936,703	V221A	probably benign	Het
Soga3	A	T	10: 29,196,331	K540*	probably null	Het
Sp9	C	A	2: 73,273,495	S131*	probably null	Het
Spen	T	C	4: 141,475,632	T1895A	possibly damaging	Het
Taf6l	CGCAGCCGCACCTG	CG	19: 8,774,324		probably benign	Het
Thada	G	T	17: 84,441,744	H600N	possibly damaging	Het
Trmt11	G	T	10: 30,547,757	P384Q	probably damaging	Het
Tsnaxip1	T	C	8: 105,840,027	L165P	probably damaging	Het
Ttc7	A	G	17: 87,330,074	Y419C	probably damaging	Het
Ugt1a6a	T	C	1: 88,138,838	F122S	probably benign	Het
Vmn1r218	G	A	13: 23,136,654	C57Y	probably benign	Het
Vmn2r14	T	C	5: 109,221,422	N95S	probably damaging	Het
Vmn2r2	G	T	3: 64,126,600	H500Q	probably benign	Het
Vmn2r70	T	A	7: 85,559,034	Y745F	probably damaging	Het
Zfp189	C	T	4: 49,530,193	S432F	probably benign	Het
Zscan2	C	T	7: 80,863,273	A2V	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGGTTCTAGAAAGCACTGGATTG -3'
(R):5'- GGCGACTAACGGTGCTTTTC -3'

Sequencing Primer
(F):5'- CTAGAAAGCACTGGATTGTTTAAGG -3'
(R):5'- TCCTTTCAGCTTCAGAGAGAGAG -3'

Posted On

2022-02-07