Mutagenetix > Incidental Mutation

Incidental Mutation 'R8724:Cep120'

662317

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 #

R8724 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53681724-53744547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53723127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 406 (V406E)

Ref Sequence

ENSEMBL: ENSMUSP00000062433 (fasta)

Gene Model

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

AlphaFold

Q7TSG1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049811
AA Change: V406E

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: V406E

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: 99.5%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,890,893	V334I	probably damaging	Het
Adamtsl4	C	T	3: 95,677,116	R990Q	possibly damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Ank2	A	T	3: 126,943,756	D2826E	unknown	Het
Asb3	A	T	11: 31,101,120	I486F	probably damaging	Het
Atg4b	A	T	1: 93,768,301	Y54F	probably damaging	Het
Atp1a2	T	A	1: 172,279,378	I792F	probably benign	Het
Ccser1	A	C	6: 61,311,215	S121R	probably damaging	Het
Cdc40	C	T	10: 40,841,484	D404N	probably damaging	Het
Ces2g	C	A	8: 104,966,323	A331D	probably benign	Het
Csnk1g2	G	A	10: 80,638,926	R299H	probably damaging	Het
Dlat	G	T	9: 50,649,667	A360E	probably damaging	Het
Dock10	T	G	1: 80,592,627	I371L	probably benign	Het
Dpp9	T	A	17: 56,205,867	T114S	probably benign	Het
Dusp13	T	C	14: 21,746,407	R160G	probably benign	Het
Edem3	A	G	1: 151,775,873	K122R	possibly damaging	Het
Ehbp1l1	A	G	19: 5,715,858	S1486P	possibly damaging	Het
Elf3	A	G	1: 135,254,360	I361T	probably damaging	Het
Epha3	C	T	16: 63,583,455	C761Y	probably damaging	Het
Ephb2	A	G	4: 136,771,057	I237T	probably damaging	Het
Eya1	A	T	1: 14,208,982	D346E	probably benign	Het
Fat2	T	C	11: 55,282,960	Y2309C	probably damaging	Het
Fbn1	T	C	2: 125,360,146	D1269G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Fnbp4	T	C	2: 90,746,753	V143A	probably damaging	Het
Foxo6	A	G	4: 120,286,912	I114T	probably damaging	Het
Gm6741	T	C	17: 91,237,136	I109T	probably benign	Het
Gtf2h5	C	CA	17: 6,084,558		probably null	Het
Hsf1	C	T	15: 76,497,799	S199L	probably damaging	Het
Htr3a	T	C	9: 48,904,681	N152S	probably damaging	Het
Ikzf2	T	A	1: 69,577,941	E82D	probably benign	Het
Kank2	T	G	9: 21,794,621	K367T	possibly damaging	Het
Kif20b	T	A	19: 34,938,746		probably benign	Het
Ktn1	G	A	14: 47,693,878	V643I	probably benign	Het
Lipk	G	A	19: 34,018,720	V11M	probably benign	Het
Med4	T	A	14: 73,513,809	L66*	probably null	Het
Mtus1	T	C	8: 40,998,463	K379E	probably damaging	Het
Nat1	T	A	8: 67,491,791	I276N	probably damaging	Het
Nav2	G	A	7: 49,491,436	V910M	possibly damaging	Het
Olfr1115	T	A	2: 87,252,360	I141N	probably damaging	Het
Olfr1253	A	T	2: 89,752,029	D266E	probably damaging	Het
Pcdh9	A	G	14: 93,887,147	V529A	probably benign	Het
Pcdhga7	C	T	18: 37,715,093	T51I	probably benign	Het
Pdcd1	A	G	1: 94,041,231	Y121H	probably damaging	Het
Pdia6	A	G	12: 17,283,981	D438G	unknown	Het
Pgm2	A	G	4: 99,929,767	T68A	probably benign	Het
Pik3c2g	G	A	6: 139,967,893	V1006I	unknown	Het
Plk4	C	T	3: 40,813,587	T855I	probably damaging	Het
Pnldc1	T	A	17: 12,892,816	N335Y	probably damaging	Het
Prkcq	C	T	2: 11,299,973	P658S	probably benign	Het
Rbl2	T	C	8: 91,115,209	I1011T	possibly damaging	Het
Rev1	A	C	1: 38,088,069	V370G	probably damaging	Het
Rtn4	A	G	11: 29,693,316	E43G	unknown	Het
Rtp2	C	T	16: 23,927,314	G189D	possibly damaging	Het
Ryr1	G	A	7: 29,117,377	A78V	probably benign	Het
Sel1l3	A	C	5: 53,135,823	Y850*	probably null	Het
Senp3	T	C	11: 69,673,593	Q547R	probably damaging	Het
Siglecf	T	C	7: 43,355,552	L402P	probably damaging	Het
Slc24a1	T	C	9: 64,948,171	I485V	probably benign	Het
Slc45a2	T	A	15: 11,012,524	H204Q	probably benign	Het
Slc9a4	T	G	1: 40,584,141	I180S	probably damaging	Het
Smyd1	T	A	6: 71,216,783	Y420F	probably damaging	Het
Sorcs1	A	G	19: 50,151,220	I1168T	probably benign	Het
Syne1	T	C	10: 5,083,861	E7737G	possibly damaging	Het
Trappc4	T	A	9: 44,405,263	H145L	probably benign	Het
Wdr34	T	C	2: 30,033,949	D188G	probably benign	Het
Wdr75	T	A	1: 45,817,400	W528R	probably damaging	Het
Zc3h13	T	C	14: 75,332,072	V1453A	probably benign	Het
Zfp143	T	C	7: 110,081,903	I318T	probably benign	Het
Zfp846	G	A	9: 20,594,056	R404H	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
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
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'- AGTGACTGTAGACCCTGCTC -3'
(R):5'- GGGAAAGGAAGCGTGTACTTTC -3'

Sequencing Primer
(F):5'- CCCTGCGTGTGAGTCACTGTAG -3'
(R):5'- GCGTGTACTTTCTAAAAAGCAACG -3'

Posted On

2021-03-08