Mutagenetix > Incidental Mutation

Incidental Mutation 'R2074:Cep120'

227480

Institutional Source

Beutler Lab

Gene Symbol

Cep120

Ensembl Gene

ENSMUSG00000048799

Gene Name

centrosomal protein 120

Synonyms

Ccdc100

MMRRC Submission

040079-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.777) question?

Stock #

R2074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53681724-53744547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53719312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 498 (V498A)

Ref Sequence

ENSEMBL: ENSMUSP00000062433 (fasta)

Gene Model

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

AlphaFold

Q7TSG1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049811
AA Change: V498A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: V498A

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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
1700022I11Rik	A	T	4: 42,974,171	D1168V	probably benign	Het
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Ace	C	T	11: 105,976,623	Q484*	probably null	Het
Ackr3	T	C	1: 90,213,981	I54T	probably damaging	Het
Aco1	G	A	4: 40,183,605	G508S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ankef1	T	C	2: 136,545,738	S192P	possibly damaging	Het
Ankrd16	T	G	2: 11,789,748	C315G	possibly damaging	Het
Ankzf1	T	C	1: 75,196,243	S328P	probably damaging	Het
Aqp2	A	G	15: 99,583,100	I176V	probably benign	Het
Arhgap45	A	G	10: 80,027,180	Y730C	probably damaging	Het
Asxl2	A	G	12: 3,493,779	E316G	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Calu	A	G	6: 29,372,615	Y263C	probably damaging	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Cenpf	T	C	1: 189,656,901	K1578R	probably damaging	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,208,022	M65K	probably damaging	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Cps1	T	A	1: 67,204,638	I1091N	probably benign	Het
Dhx32	T	C	7: 133,721,292	N731S	probably benign	Het
Dhx33	G	A	11: 70,999,843	R177W	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dnah10	T	C	5: 124,814,674	S3259P	probably damaging	Het
Dnah7a	T	C	1: 53,457,696	I3134V	probably benign	Het
Dock3	A	G	9: 106,993,463	F584S	possibly damaging	Het
Dtnb	A	G	12: 3,781,273	T658A	probably benign	Het
Duox2	T	A	2: 122,295,158	S323C	probably damaging	Het
Elovl3	A	T	19: 46,132,167	E33V	probably damaging	Het
Enpp5	T	C	17: 44,085,373	F392S	probably benign	Het
Eogt	T	C	6: 97,131,376	T235A	probably benign	Het
Etv3	T	C	3: 87,536,219	V370A	probably benign	Het
Ewsr1	C	T	11: 5,071,555	R466H	unknown	Het
Fam208a	T	A	14: 27,461,213	I543K	probably benign	Het
Fcgbp	G	A	7: 28,120,389	G2514S	probably damaging	Het
Flt1	A	T	5: 147,599,606	D808E	possibly damaging	Het
Glg1	C	T	8: 111,168,671	G836E	probably damaging	Het
Gm17334	A	G	11: 53,772,828		probably benign	Het
Gpbp1	A	T	13: 111,453,407	D51E	probably benign	Het
Il12rb2	C	G	6: 67,360,552	C115S	probably damaging	Het
Il1rl1	T	C	1: 40,462,044	S527P	probably damaging	Het
Ireb2	A	G	9: 54,881,449	D69G	probably benign	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
M1ap	A	G	6: 82,981,882	I165V	probably benign	Het
Mff	T	A	1: 82,751,700	L287H	probably damaging	Het
Mmp27	A	G	9: 7,577,739	M311V	possibly damaging	Het
Mpped2	T	A	2: 106,744,802	Y77*	probably null	Het
Mybbp1a	G	A	11: 72,441,445	S21N	probably benign	Het
Obscn	G	C	11: 59,069,281	I3253M	probably damaging	Het
Obscn	T	C	11: 59,132,652	D633G	probably damaging	Het
Olfr1247	A	G	2: 89,609,478	V208A	probably benign	Het
Olfr1404	A	T	1: 173,215,810	D53V	probably damaging	Het
Olr1	C	T	6: 129,502,094	V54I	probably benign	Het
Phlpp2	T	C	8: 109,928,492	S605P	possibly damaging	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452		probably benign	Het
Prss8	C	A	7: 127,927,094	R148L	possibly damaging	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Rabgef1	C	A	5: 130,187,561	Q52K	probably benign	Het
Rnf6	C	T	5: 146,210,906	R434H	probably damaging	Het
Rpl26	A	G	11: 68,903,273	E88G	probably benign	Het
Rpn1	T	A	6: 88,100,962	L460Q	probably damaging	Het
Sap130	T	A	18: 31,648,279	I165N	probably damaging	Het
Sash1	A	G	10: 8,756,697	V258A	probably damaging	Het
Scarb1	G	T	5: 125,294,143	N288K	probably benign	Het
Sec16a	A	G	2: 26,440,239	I588T	probably damaging	Het
Shank2	C	A	7: 144,409,540	S295Y	probably damaging	Het
Slc15a3	T	C	19: 10,857,299	S515P	probably damaging	Het
Slc25a13	A	T	6: 6,114,017	M285K	probably benign	Het
Slc39a11	A	G	11: 113,463,974	I143T	probably null	Het
Smarcd2	A	T	11: 106,265,307	L42*	probably null	Het
Smc3	A	G	19: 53,631,533	D620G	probably benign	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar4	A	C	10: 23,961,173	Q227P	probably benign	Het
Tecta	G	T	9: 42,337,279	Y1937*	probably null	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tmem130	T	A	5: 144,755,274	T107S	possibly damaging	Het
Tmem132d	T	C	5: 128,269,131	D109G	probably damaging	Het
Tmem81	A	G	1: 132,507,906	Y150C	probably damaging	Het
Tnrc18	C	T	5: 142,759,706		probably null	Het
Trim43a	A	G	9: 88,586,094	K256R	possibly damaging	Het
Trpm6	A	G	19: 18,877,739	T1921A	probably damaging	Het
Tubb3	C	T	8: 123,421,270	A314V	probably damaging	Het
Ube3b	A	C	5: 114,415,255	N896T	probably benign	Het
Unc80	G	A	1: 66,679,744		probably null	Het
Upb1	A	G	10: 75,424,513	T134A	probably damaging	Het
Vmn2r15	A	T	5: 109,286,753	M695K	possibly damaging	Het
Wwc1	G	T	11: 35,889,353	D258E	possibly damaging	Het
Zfp619	T	A	7: 39,534,761	Y72N	probably benign	Het
Zfp672	G	T	11: 58,316,636	H286Q	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GTGGGCTGACATCAGTGAAC -3'
(R):5'- CACGTCATAGTCCAAGATTTCTACTC -3'

Sequencing Primer
(F):5'- GCTGACATCAGTGAACTAAGGTTTTG -3'
(R):5'- GTGTACCATGAGCCTTGT -3'

Posted On

2014-09-17