Mutagenetix > Incidental Mutation

Incidental Mutation 'R1873:Cep120'

210985

Institutional Source

Beutler Lab

Gene Symbol

Cep120

Ensembl Gene

ENSMUSG00000048799

Gene Name

centrosomal protein 120

Synonyms

Ccdc100

MMRRC Submission

039895-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R1873 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53814795-53877680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53871560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 104 (E104G)

Ref Sequence

ENSEMBL: ENSMUSP00000062433 (fasta)

Gene Model

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

AlphaFold

Q7TSG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000049811
AA Change: E104G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: E104G

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

Meta Mutation Damage Score

0.1332

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

98% (82/84)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,870,781 (GRCm39)	I124L	probably benign	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam34	A	C	8: 44,104,843 (GRCm39)	N267K	probably benign	Het
Anxa5	T	C	3: 36,503,551 (GRCm39)	D301G	probably damaging	Het
Atf7ip	G	T	6: 136,536,886 (GRCm39)	D40Y	probably damaging	Het
Cacna2d2	T	G	9: 107,391,071 (GRCm39)	M400R	probably damaging	Het
Cd96	C	A	16: 45,938,335 (GRCm39)	L43F	probably damaging	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cfhr4	C	T	1: 139,702,398 (GRCm39)	E29K	probably damaging	Het
Chil4	C	T	3: 106,113,414 (GRCm39)	E168K	probably benign	Het
Clca3a1	A	G	3: 144,452,590 (GRCm39)	V631A	probably damaging	Het
Cluh	C	T	11: 74,552,902 (GRCm39)	A649V	possibly damaging	Het
Commd9	A	G	2: 101,727,502 (GRCm39)	T99A	probably benign	Het
Csgalnact1	T	C	8: 68,854,036 (GRCm39)	N255S	probably benign	Het
Cyth3	T	A	5: 143,683,516 (GRCm39)	H138Q	possibly damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fyco1	A	G	9: 123,652,303 (GRCm39)	V1135A	probably benign	Het
Glcci1	C	A	6: 8,537,837 (GRCm39)	H152N	probably benign	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gnrhr	A	G	5: 86,330,060 (GRCm39)	L320P	probably damaging	Het
Gorasp1	A	T	9: 119,759,306 (GRCm39)	S138T	probably benign	Het
Hars1	C	A	18: 36,900,294 (GRCm39)	Q469H	probably damaging	Het
Homer2	T	C	7: 81,286,111 (GRCm39)	K34E	probably damaging	Het
Hscb	T	C	5: 110,978,823 (GRCm39)	I198V	probably benign	Het
Kat6b	T	C	14: 21,567,057 (GRCm39)	S39P	probably damaging	Het
Kcnk12	G	T	17: 88,053,499 (GRCm39)	Q388K	probably damaging	Het
Kcnq3	A	G	15: 65,874,104 (GRCm39)	I548T	probably benign	Het
Mark2	A	G	19: 7,261,880 (GRCm39)	Y351H	probably damaging	Het
Masp2	A	T	4: 148,698,952 (GRCm39)	I678F	probably damaging	Het
Mc4r	A	T	18: 66,992,531 (GRCm39)	I194N	probably damaging	Het
Ms4a6d	A	G	19: 11,579,223 (GRCm39)	S85P	probably damaging	Het
Myh4	T	A	11: 67,145,569 (GRCm39)	Y1351N	probably benign	Het
Myo16	A	G	8: 10,322,789 (GRCm39)	D73G	probably damaging	Het
Mzt1	C	T	14: 99,278,097 (GRCm39)		probably null	Het
Nalcn	G	A	14: 123,521,013 (GRCm39)	H1631Y	probably benign	Het
Ncf2	A	G	1: 152,701,661 (GRCm39)	N213S	probably benign	Het
Nf1	C	A	11: 79,437,987 (GRCm39)	T99K	probably damaging	Het
Nsf	T	C	11: 103,749,843 (GRCm39)	S547G	probably damaging	Het
Ntrk3	T	A	7: 78,112,587 (GRCm39)	I190F	probably benign	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Ogdh	A	T	11: 6,290,438 (GRCm39)		probably benign	Het
Or2ag12	T	A	7: 106,277,691 (GRCm39)	M1L	probably damaging	Het
Or5b12	C	T	19: 12,896,852 (GRCm39)	V274M	probably damaging	Het
Otog	G	A	7: 45,918,767 (GRCm39)	V948I	probably damaging	Het
Plekhm1	T	C	11: 103,264,824 (GRCm39)	D880G	probably benign	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Polg	A	G	7: 79,106,241 (GRCm39)	L678S	probably benign	Het
Ptprm	C	T	17: 66,995,350 (GRCm39)	V1293I	probably damaging	Het
Pwwp3a	T	A	10: 80,068,442 (GRCm39)	D195E	possibly damaging	Het
Rhou	A	T	8: 124,387,990 (GRCm39)	R241W	probably damaging	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Sez6l	T	C	5: 112,621,276 (GRCm39)		probably benign	Het
Sost	T	C	11: 101,855,069 (GRCm39)	E80G	probably damaging	Het
Spag16	C	T	1: 69,935,744 (GRCm39)		probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Taf1b	T	A	12: 24,606,668 (GRCm39)	L496Q	possibly damaging	Het
Tarbp1	A	G	8: 127,173,786 (GRCm39)	I976T	probably damaging	Het
Tex14	T	A	11: 87,390,431 (GRCm39)	V376D	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tm9sf1	T	C	14: 55,873,680 (GRCm39)	D606G	probably damaging	Het
Tmc2	A	C	2: 130,090,676 (GRCm39)	N674T	possibly damaging	Het
Top3a	C	A	11: 60,638,810 (GRCm39)	E562*	probably null	Het
Umodl1	A	T	17: 31,201,238 (GRCm39)	D389V	probably damaging	Het
Uso1	T	C	5: 92,340,718 (GRCm39)		probably benign	Het
Vmn1r205	A	G	13: 22,776,223 (GRCm39)	V293A	possibly damaging	Het
Vmn2r107	A	G	17: 20,565,840 (GRCm39)	T52A	probably benign	Het
Vmn2r4	C	T	3: 64,298,479 (GRCm39)	V461I	possibly damaging	Het
Vmn2r99	A	T	17: 19,582,415 (GRCm39)	I7F	probably benign	Het
Vps11	A	G	9: 44,271,233 (GRCm39)	F80S	probably damaging	Het
Wdr43	A	G	17: 71,940,647 (GRCm39)	S258G	probably benign	Het
Zbtb24	A	G	10: 41,327,123 (GRCm39)	D3G	probably benign	Het
Zc3hav1	C	T	6: 38,309,692 (GRCm39)	V377I	possibly damaging	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		probably null	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
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
R9225:Cep120	UTSW	18	53,839,896 (GRCm39)	missense	probably benign	0.00
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'- GGGGCAGTTCCTTTTACACAG -3'
(R):5'- TCTTGCGGCTTGGAGAAAG -3'

Sequencing Primer
(F):5'- TTTCCTGGAGAAAGATGGCTCAC -3'
(R):5'- CTTGGAGAAAGCTGGCTTAAGC -3'

Posted On

2014-06-30