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?

Probably essential (E-score: 0.773) question?

Stock #

R9225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53814795-53877680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53839896 bp (GRCm39)

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: 88,120,433 (GRCm39)	V397L	probably benign	Het
Adam26b	G	T	8: 43,973,453 (GRCm39)	Y516*	probably null	Het
Afap1	A	G	5: 36,133,968 (GRCm39)	K468E	possibly damaging	Het
Ank2	A	G	3: 126,736,111 (GRCm39)	S3258P	unknown	Het
Ap1g1	A	G	8: 110,585,509 (GRCm39)	K783E	probably benign	Het
Apbb1	A	G	7: 105,218,063 (GRCm39)	S20P		Het
Atg13	T	C	2: 91,519,128 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,188 (GRCm39)	V16A	probably benign	Het
Atp11a	G	A	8: 12,867,005 (GRCm39)	R144Q	probably benign	Het
Avpr1a	A	T	10: 122,285,466 (GRCm39)	T253S	probably benign	Het
B4galnt3	T	C	6: 120,195,928 (GRCm39)	T300A	probably damaging	Het
Bag4	A	G	8: 26,261,270 (GRCm39)	V157A	probably benign	Het
Brsk2	A	G	7: 141,547,039 (GRCm39)	H494R	probably damaging	Het
Cacna2d2	G	A	9: 107,403,403 (GRCm39)	G955S	probably benign	Het
Ccdc42	A	T	11: 68,479,061 (GRCm39)	E83V	probably damaging	Het
Cnbd1	A	G	4: 18,907,010 (GRCm39)	I188T	probably benign	Het
Col6a6	C	T	9: 105,659,437 (GRCm39)	E503K	possibly damaging	Het
Cpt1c	A	T	7: 44,610,213 (GRCm39)	L661H	probably damaging	Het
Cyp2a22	T	C	7: 26,637,202 (GRCm39)	D194G	possibly damaging	Het
Cyp2c70	C	A	19: 40,168,912 (GRCm39)	R125L	probably damaging	Het
Cyp3a41a	A	T	5: 145,650,414 (GRCm39)	D76E	probably benign	Het
Cyp4f13	A	T	17: 33,144,319 (GRCm39)	I458N	probably damaging	Het
Cyp4f13	T	C	17: 33,148,175 (GRCm39)	Q350R	probably damaging	Het
Ddx60	G	A	8: 62,470,875 (GRCm39)	V1456I	probably benign	Het
Dgkh	T	C	14: 78,962,507 (GRCm39)	H8R	probably damaging	Het
Diaph3	A	G	14: 87,244,760 (GRCm39)		probably null	Het
Dnah8	A	C	17: 30,854,647 (GRCm39)	D103A	probably benign	Het
Dock4	G	A	12: 40,879,669 (GRCm39)	R1551Q	probably benign	Het
Eps8	A	T	6: 137,507,561 (GRCm39)	S56T	probably benign	Het
Fam171b	T	A	2: 83,710,386 (GRCm39)	L686Q	probably damaging	Het
Fndc3b	A	C	3: 27,510,680 (GRCm39)	L814*	probably null	Het
Gcnt2	T	A	13: 41,014,336 (GRCm39)	L169Q	probably damaging	Het
Gm21103	T	A	14: 17,484,877 (GRCm39)	I56F	possibly damaging	Het
Gpc1	A	T	1: 92,783,742 (GRCm39)	K276N	probably damaging	Het
Hivep1	T	A	13: 42,337,184 (GRCm39)	V2421D	probably damaging	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Ifi208	A	G	1: 173,518,294 (GRCm39)	D467G	possibly damaging	Het
Klhl22	A	G	16: 17,594,617 (GRCm39)	M249V	probably damaging	Het
Kmt2b	A	G	7: 30,286,172 (GRCm39)	V240A	unknown	Het
Lacc1	A	T	14: 77,272,414 (GRCm39)	Y127*	probably null	Het
Lgr4	C	A	2: 109,842,485 (GRCm39)	H823Q	probably benign	Het
Llgl1	T	C	11: 60,600,889 (GRCm39)	S662P	probably damaging	Het
Lrrc1	G	A	9: 77,359,955 (GRCm39)	T279I	probably benign	Het
Lrrc8e	T	A	8: 4,284,561 (GRCm39)	V262E	probably damaging	Het
Magi1	G	T	6: 93,762,511 (GRCm39)	P292T	possibly damaging	Het
Mccc1	T	A	3: 36,018,511 (GRCm39)	I608F	probably benign	Het
Mroh8	T	A	2: 157,107,010 (GRCm39)	I220L	probably damaging	Het
Mtcl3	A	T	10: 29,072,327 (GRCm39)	K540*	probably null	Het
Mycn	C	A	12: 12,987,609 (GRCm39)	D263Y	probably damaging	Het
Myrip	A	G	9: 120,293,850 (GRCm39)	K782E	probably damaging	Het
Ncoa6	T	A	2: 155,249,441 (GRCm39)	I1288F	possibly damaging	Het
Nebl	A	G	2: 17,405,322 (GRCm39)	I399T	possibly damaging	Het
Neurod1	A	T	2: 79,284,731 (GRCm39)	H217Q	probably benign	Het
Nlrp5	T	C	7: 23,117,371 (GRCm39)	V365A	probably benign	Het
Or1e1	C	A	11: 73,244,595 (GRCm39)	N5K	probably damaging	Het
Or2ag12	A	G	7: 106,276,976 (GRCm39)	V239A	probably benign	Het
Or5b100-ps1	G	C	19: 12,994,371 (GRCm39)	*261Y	probably null	Het
Or5b100-ps1	A	G	19: 12,994,370 (GRCm39)	*261W	probably null	Het
Otud7a	A	G	7: 63,407,469 (GRCm39)	T591A	possibly damaging	Het
Pbx3	T	C	2: 34,260,938 (GRCm39)		probably benign	Het
Pcdhb4	A	T	18: 37,441,695 (GRCm39)	Q335L	possibly damaging	Het
Plxnc1	C	A	10: 94,629,061 (GRCm39)	C1571F	probably damaging	Het
Pola2	G	A	19: 6,000,492 (GRCm39)	P330S	probably benign	Het
Ppm1l	A	T	3: 69,460,244 (GRCm39)	N274Y	probably benign	Het
Ppp4r3b	A	G	11: 29,155,648 (GRCm39)	D538G	possibly damaging	Het
Ptx4	C	T	17: 25,341,696 (GRCm39)	T57I	probably benign	Het
Rchy1	A	T	5: 92,105,396 (GRCm39)	C108*	probably null	Het
Rif1	A	G	2: 52,001,862 (GRCm39)	E130G	probably benign	Het
Rmdn1	A	T	4: 19,601,385 (GRCm39)	Y219F	probably damaging	Het
Rnf144a	A	G	12: 26,377,606 (GRCm39)	C46R	probably damaging	Het
Rpl13a	C	A	7: 44,775,627 (GRCm39)	G146V	probably damaging	Het
Rpl13a	C	A	7: 44,775,628 (GRCm39)	G146W	probably damaging	Het
Rtn3	A	T	19: 7,434,854 (GRCm39)	N379K	probably damaging	Het
Sdc1	G	T	12: 8,821,817 (GRCm39)	R19L	unknown	Het
Shank1	A	G	7: 43,983,470 (GRCm39)	I651V	unknown	Het
Slamf6	T	C	1: 171,764,270 (GRCm39)	V221A	probably benign	Het
Sp9	C	A	2: 73,103,839 (GRCm39)	S131*	probably null	Het
Spen	T	C	4: 141,202,943 (GRCm39)	T1895A	possibly damaging	Het
Taf6l	CGCAGCCGCACCTG	CG	19: 8,751,688 (GRCm39)		probably benign	Het
Thada	G	T	17: 84,749,172 (GRCm39)	H600N	possibly damaging	Het
Trmt11	G	T	10: 30,423,753 (GRCm39)	P384Q	probably damaging	Het
Tsnaxip1	T	C	8: 106,566,659 (GRCm39)	L165P	probably damaging	Het
Ttc7	A	G	17: 87,637,502 (GRCm39)	Y419C	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,560 (GRCm39)	F122S	probably benign	Het
Vmn1r218	G	A	13: 23,320,824 (GRCm39)	C57Y	probably benign	Het
Vmn2r14	T	C	5: 109,369,288 (GRCm39)	N95S	probably damaging	Het
Vmn2r2	G	T	3: 64,034,021 (GRCm39)	H500Q	probably benign	Het
Vmn2r70	T	A	7: 85,208,242 (GRCm39)	Y745F	probably damaging	Het
Zfp189	C	T	4: 49,530,193 (GRCm39)	S432F	probably benign	Het
Zscan2	C	T	7: 80,513,021 (GRCm39)	A2V	probably damaging	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
R0039:Cep120	UTSW	18	53,819,033 (GRCm39)	missense	probably benign	0.24
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
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

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