Mutagenetix > Incidental Mutation

Incidental Mutation 'R6156:Cep120'

489625

Institutional Source

Beutler Lab

Gene Symbol

Cep120

Ensembl Gene

ENSMUSG00000048799

Gene Name

centrosomal protein 120

Synonyms

Ccdc100

MMRRC Submission

044303-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R6156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53814795-53877680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53836295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 797 (Y797H)

Ref Sequence

ENSEMBL: ENSMUSP00000062433 (fasta)

Gene Model

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

AlphaFold

Q7TSG1

Predicted Effect

probably benign
Transcript: ENSMUST00000049811
AA Change: Y797H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: Y797H

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

0.0589

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,689,488 (GRCm39)		probably null	Het
Ank2	T	C	3: 126,737,886 (GRCm39)	D2579G	probably damaging	Het
Atp6v1b1	G	C	6: 83,735,115 (GRCm39)	G423R	probably damaging	Het
B4galnt3	T	C	6: 120,191,801 (GRCm39)	N644S	probably benign	Het
Bhmt1b	C	A	18: 87,775,231 (GRCm39)	Y251*	probably null	Het
Capsl	T	G	15: 9,465,920 (GRCm39)	M132R	probably damaging	Het
Cimip4	T	C	15: 78,263,013 (GRCm39)	T214A	probably damaging	Het
Clec2e	T	A	6: 129,072,061 (GRCm39)	D106V	possibly damaging	Het
Col6a2	C	T	10: 76,440,004 (GRCm39)	V634I	possibly damaging	Het
Dis3	T	C	14: 99,336,215 (GRCm39)	E97G	probably benign	Het
Dlec1	T	C	9: 118,939,281 (GRCm39)		probably null	Het
Dock2	C	A	11: 34,197,789 (GRCm39)	V1484F	possibly damaging	Het
Ephb2	T	A	4: 136,388,816 (GRCm39)	M593L	probably benign	Het
Fcgrt	T	C	7: 44,751,484 (GRCm39)	T125A	probably benign	Het
Gabbr1	T	C	17: 37,359,319 (GRCm39)	I98T	probably benign	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gfod1	T	C	13: 43,354,514 (GRCm39)	S154G	possibly damaging	Het
Ggt5	C	T	10: 75,445,160 (GRCm39)	T389I	probably damaging	Het
Got2	A	G	8: 96,598,896 (GRCm39)	F169L	probably benign	Het
Gse1	A	G	8: 121,215,866 (GRCm39)	K5E	possibly damaging	Het
Hyal5	T	C	6: 24,891,437 (GRCm39)	I417T	possibly damaging	Het
Igkv4-91	G	T	6: 68,745,607 (GRCm39)	T97K	probably damaging	Het
Il4i1	T	C	7: 44,489,608 (GRCm39)	Y458H	possibly damaging	Het
Impg1	A	T	9: 80,230,106 (GRCm39)	C740S	probably damaging	Het
Itgb1	C	G	8: 129,458,535 (GRCm39)	T788R	possibly damaging	Het
Lman2l	A	G	1: 36,477,907 (GRCm39)	V143A	probably damaging	Het
Ltbp4	G	T	7: 27,029,587 (GRCm39)	T136K	unknown	Het
Macf1	A	G	4: 123,366,073 (GRCm39)	I1331T	probably benign	Het
Mmp11	G	A	10: 75,762,325 (GRCm39)	A336V	probably damaging	Het
Myh2	A	T	11: 67,071,879 (GRCm39)	I536F	probably damaging	Het
Myh4	A	G	11: 67,141,618 (GRCm39)	M826V	probably benign	Het
Naca	T	C	10: 127,875,160 (GRCm39)		probably benign	Het
Nr4a2	A	G	2: 57,002,364 (GRCm39)	Y30H	probably damaging	Het
Or12j4	A	G	7: 140,046,758 (GRCm39)	T215A	probably benign	Het
Or1e35	A	T	11: 73,797,447 (GRCm39)	Y290*	probably null	Het
Or2n1d	T	A	17: 38,646,064 (GRCm39)	N5K	probably damaging	Het
Or4a67	T	A	2: 88,597,934 (GRCm39)	I242L	probably benign	Het
Or4f14d	A	T	2: 111,960,445 (GRCm39)	L237Q	probably damaging	Het
Or4k42	A	T	2: 111,320,095 (GRCm39)	M136K	probably damaging	Het
Or4z4	A	G	19: 12,076,484 (GRCm39)	V173A	possibly damaging	Het
Or8g22	T	A	9: 38,958,671 (GRCm39)	M15L	possibly damaging	Het
Paqr3	A	C	5: 97,256,128 (GRCm39)	L82R	probably damaging	Het
Pex6	C	T	17: 47,031,567 (GRCm39)	P456S	probably benign	Het
Pih1d2	A	T	9: 50,532,452 (GRCm39)	K186I	possibly damaging	Het
Plekhh3	A	G	11: 101,061,013 (GRCm39)		probably benign	Het
Ptpn23	C	A	9: 110,216,849 (GRCm39)		probably benign	Het
Rcor3	T	A	1: 191,812,142 (GRCm39)		probably benign	Het
Rgs11	T	A	17: 26,429,439 (GRCm39)	Y403*	probably null	Het
Scn10a	T	C	9: 119,464,649 (GRCm39)	N984D	probably benign	Het
Snx14	C	T	9: 88,289,392 (GRCm39)	A287T	possibly damaging	Het
Stx3	T	C	19: 11,780,874 (GRCm39)	D33G	probably damaging	Het
Tacc2	A	G	7: 130,227,494 (GRCm39)	K1393R	probably damaging	Het
Tas2r129	T	C	6: 132,928,455 (GRCm39)	S131P	probably benign	Het
Tbx15	G	T	3: 99,220,431 (GRCm39)		probably null	Het
Thada	A	G	17: 84,700,795 (GRCm39)	V1237A	probably damaging	Het
Tnc	A	G	4: 63,888,589 (GRCm39)	Y1735H	probably damaging	Het
Ttc22	A	G	4: 106,495,780 (GRCm39)	K378R	probably benign	Het
Tubg2	A	G	11: 101,051,635 (GRCm39)	K287E	possibly damaging	Het
Ugt3a1	T	C	15: 9,310,762 (GRCm39)	I348T	possibly damaging	Het
Unc79	A	G	12: 103,027,717 (GRCm39)	N436S	probably damaging	Het
Unc80	A	T	1: 66,651,409 (GRCm39)	I1585F	probably benign	Het
Vmn2r104	T	C	17: 20,261,909 (GRCm39)	Y407C	probably damaging	Het
Vmn2r108	T	A	17: 20,692,447 (GRCm39)	L136F	probably benign	Het
Vmn2r38	A	G	7: 9,097,611 (GRCm39)	S161P	probably damaging	Het
Vmn2r90	T	C	17: 17,953,606 (GRCm39)	I590T	probably benign	Het
Washc5	T	C	15: 59,217,248 (GRCm39)	E323G	probably damaging	Het
Wdhd1	C	T	14: 47,505,653 (GRCm39)	G273D	probably damaging	Het
Xpo6	G	T	7: 125,708,016 (GRCm39)	Q851K	probably damaging	Het
Zfp386	T	C	12: 116,023,526 (GRCm39)	S380P	probably damaging	Het
Zfp536	A	G	7: 37,173,281 (GRCm39)	C274R	unknown	Het
Zfp64	A	G	2: 168,768,088 (GRCm39)	I508T	probably benign	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
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'- GAGTCCTGTGCACACGTATTC -3'
(R):5'- GCCATTCCTTCAGGCATTAAG -3'

Sequencing Primer
(F):5'- GCACACGTATTCATTAGTGGC -3'
(R):5'- GCATTAAGCCGTTCAATCCTG -3'

Posted On

2017-10-10