Mutagenetix > Incidental Mutation

Incidental Mutation 'R1968:Cep120'

219340

Institutional Source

Beutler Lab

Gene Symbol

Cep120

Ensembl Gene

ENSMUSG00000048799

Gene Name

centrosomal protein 120

Synonyms

Ccdc100

MMRRC Submission

039981-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R1968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53681724-53744547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53723241 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 368 (T368I)

Ref Sequence

ENSEMBL: ENSMUSP00000062433 (fasta)

Gene Model

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

AlphaFold

Q7TSG1

Predicted Effect

probably benign
Transcript: ENSMUST00000049811
AA Change: T368I

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: T368I

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: 98.5%
10x: 96.8%
20x: 94.2%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,322,199 (GRCm38)	L528Q	probably damaging	Het
Adam18	T	A	8: 24,646,447 (GRCm38)	T353S	probably benign	Het
Aldh1a3	A	G	7: 66,411,500 (GRCm38)		probably null	Het
Aldh3b2	T	A	19: 3,980,705 (GRCm38)	M390K	probably benign	Het
Arhgap45	T	C	10: 80,027,702 (GRCm38)	I793T	probably damaging	Het
Arsb	A	G	13: 93,807,559 (GRCm38)	M253V	probably benign	Het
Atcay	T	C	10: 81,212,478 (GRCm38)	D258G	possibly damaging	Het
Atf1	G	T	15: 100,254,514 (GRCm38)		probably null	Het
Atp1a4	C	T	1: 172,240,164 (GRCm38)	E511K	probably benign	Het
Atp8a1	A	G	5: 67,667,657 (GRCm38)	V777A	probably benign	Het
Baz1a	T	C	12: 54,900,337 (GRCm38)	T1173A	possibly damaging	Het
Bdh2	A	T	3: 135,285,609 (GRCm38)	D15V	probably benign	Het
Cacna1e	T	C	1: 154,700,494 (GRCm38)	Y69C	probably damaging	Het
Caskin2	A	G	11: 115,803,614 (GRCm38)	L387P	probably benign	Het
Cat	T	C	2: 103,484,989 (GRCm38)	E17G	probably benign	Het
Ccdc15	T	C	9: 37,347,795 (GRCm38)	I54M	probably benign	Het
Cdhr1	T	G	14: 37,079,725 (GRCm38)	I754L	probably benign	Het
Cep126	C	A	9: 8,100,908 (GRCm38)	D542Y	probably damaging	Het
Cep135	T	C	5: 76,624,747 (GRCm38)	S660P	possibly damaging	Het
Cfap70	A	T	14: 20,420,811 (GRCm38)	S455R	possibly damaging	Het
Chd8	A	G	14: 52,220,993 (GRCm38)	M886T	probably damaging	Het
Ckap5	T	C	2: 91,586,343 (GRCm38)	S1098P	probably benign	Het
Clec4e	A	T	6: 123,283,574 (GRCm38)	I204N	probably damaging	Het
Cntnap5c	G	A	17: 58,359,296 (GRCm38)	R1107H	probably damaging	Het
Cramp1l	T	C	17: 24,964,939 (GRCm38)	D1234G	probably damaging	Het
Csf1r	A	T	18: 61,112,795 (GRCm38)	I275L	probably benign	Het
Cyp27a1	A	G	1: 74,737,276 (GRCm38)	E457G	probably benign	Het
Cyp2d11	T	C	15: 82,389,548 (GRCm38)	T410A	probably benign	Het
Cyp2d22	G	C	15: 82,373,172 (GRCm38)	T264S	probably benign	Het
Cyr61	T	C	3: 145,648,210 (GRCm38)	Y275C	probably damaging	Het
Daam2	G	A	17: 49,483,060 (GRCm38)	R390W	probably damaging	Het
Decr2	T	C	17: 26,083,079 (GRCm38)	S226G	probably benign	Het
Dennd6b	T	C	15: 89,190,341 (GRCm38)	D91G	possibly damaging	Het
Dglucy	T	C	12: 100,859,644 (GRCm38)	V515A	possibly damaging	Het
Dlg5	A	T	14: 24,164,119 (GRCm38)	L734*	probably null	Het
Dopey2	A	G	16: 93,782,419 (GRCm38)	N1690D	probably damaging	Het
Exoc5	A	G	14: 49,034,890 (GRCm38)	Y356H	probably benign	Het
Fut7	T	A	2: 25,425,726 (GRCm38)	V332D	probably benign	Het
Gm436	A	G	4: 144,670,623 (GRCm38)	Y180H	possibly damaging	Het
Gnas	T	C	2: 174,298,733 (GRCm38)	S232P	probably damaging	Het
Gramd4	A	G	15: 86,132,905 (GRCm38)	E522G	probably damaging	Het
Gys1	A	G	7: 45,443,546 (GRCm38)	T297A	probably damaging	Het
Herc4	T	C	10: 63,273,525 (GRCm38)	S180P	probably benign	Het
Hivep3	C	T	4: 120,096,238 (GRCm38)	P584S	possibly damaging	Het
Itpk1	G	T	12: 102,675,470 (GRCm38)		probably null	Het
Jmjd1c	A	T	10: 67,225,440 (GRCm38)	S1191C	probably damaging	Het
Lima1	T	C	15: 99,819,684 (GRCm38)	N147S	probably benign	Het
Lrmp	T	A	6: 145,169,773 (GRCm38)	S310T	probably damaging	Het
Map4k5	G	A	12: 69,818,492 (GRCm38)	T506I	probably damaging	Het
Mat1a	A	T	14: 41,111,034 (GRCm38)	E58V	probably damaging	Het
Mfsd13a	T	C	19: 46,372,053 (GRCm38)	L348P	probably damaging	Het
Mon2	A	G	10: 123,009,565 (GRCm38)	Y1413H	probably damaging	Het
Mpp3	C	A	11: 102,018,552 (GRCm38)		probably benign	Het
Mpp4	T	A	1: 59,144,802 (GRCm38)	I260F	probably damaging	Het
Myocd	C	A	11: 65,200,907 (GRCm38)	G70C	probably damaging	Het
Nckap1	C	T	2: 80,517,942 (GRCm38)	S889N	probably benign	Het
Nckap5	T	A	1: 126,014,630 (GRCm38)	D209V	probably damaging	Het
Nlrp9a	A	G	7: 26,564,941 (GRCm38)	K707R	probably benign	Het
Npr3	A	G	15: 11,904,969 (GRCm38)	L224S	probably benign	Het
Olfr1036	T	A	2: 86,075,205 (GRCm38)	L155Q	probably damaging	Het
Olfr1153	T	A	2: 87,897,039 (GRCm38)	V280E	probably damaging	Het
Olfr821	A	G	10: 130,033,733 (GRCm38)	S36G	probably damaging	Het
Otof	C	T	5: 30,388,654 (GRCm38)	D467N	probably damaging	Het
Paxx	T	C	2: 25,460,628 (GRCm38)		probably benign	Het
Pcmt1	G	A	10: 7,640,710 (GRCm38)	R179*	probably null	Het
Phkb	T	A	8: 85,970,951 (GRCm38)	V463D	probably benign	Het
Prkcq	T	C	2: 11,245,397 (GRCm38)	V175A	probably damaging	Het
Rasl11b	T	G	5: 74,196,136 (GRCm38)	I58S	probably damaging	Het
Rb1cc1	A	T	1: 6,248,195 (GRCm38)		probably null	Het
Reck	T	A	4: 43,913,771 (GRCm38)		probably null	Het
Riox1	G	T	12: 83,951,382 (GRCm38)	D231Y	probably damaging	Het
Rlf	T	A	4: 121,148,420 (GRCm38)	N1231I	probably damaging	Het
Rpn1	A	G	6: 88,095,548 (GRCm38)	D291G	possibly damaging	Het
Samsn1	C	T	16: 75,945,573 (GRCm38)		noncoding transcript	Het
Scara5	T	C	14: 65,689,800 (GRCm38)	C49R	possibly damaging	Het
Serpini1	A	G	3: 75,614,478 (GRCm38)	D92G	probably benign	Het
Setdb2	A	T	14: 59,419,409 (GRCm38)	L153Q	probably damaging	Het
Sh3rf3	C	T	10: 58,813,987 (GRCm38)	T138M	probably benign	Het
Shkbp1	C	T	7: 27,355,400 (GRCm38)		probably null	Het
Slc22a29	G	A	19: 8,218,343 (GRCm38)	P111S	probably benign	Het
Smarca1	A	G	X: 47,852,687 (GRCm38)	V618A	probably damaging	Het
Spef2	T	A	15: 9,609,516 (GRCm38)	M1308L	probably damaging	Het
Spink5	A	G	18: 43,990,708 (GRCm38)	N354S	probably benign	Het
Srrm2	T	C	17: 23,821,491 (GRCm38)	S2370P	probably damaging	Het
Ssxb3	A	T	X: 8,588,666 (GRCm38)	I28N	probably damaging	Het
Sucla2	A	G	14: 73,593,679 (GRCm38)	T411A	probably damaging	Het
Tex38	A	C	4: 115,780,340 (GRCm38)	S89A	probably benign	Het
Tjp2	A	T	19: 24,111,073 (GRCm38)	D723E	probably damaging	Het
Tln2	A	T	9: 67,255,901 (GRCm38)	N1121K	probably damaging	Het
Tti1	T	C	2: 158,009,046 (GRCm38)	E91G	possibly damaging	Het
Wbp2	A	T	11: 116,082,365 (GRCm38)	M72K	possibly damaging	Het
Wdfy4	C	A	14: 33,106,044 (GRCm38)	C1062F	possibly damaging	Het
Wiz	A	G	17: 32,359,372 (GRCm38)	Y389H	probably damaging	Het
Zcchc3	T	C	2: 152,414,092 (GRCm38)	K229R	probably damaging	Het
Zmat3	C	A	3: 32,360,982 (GRCm38)	D60Y	probably damaging	Het

Other mutations in Cep120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Cep120	APN	18	53,685,961 (GRCm38)	missense	probably benign	0.24
IGL01774:Cep120	APN	18	53,706,830 (GRCm38)	missense	possibly damaging	0.92
IGL01862:Cep120	APN	18	53,714,767 (GRCm38)	missense	probably benign	0.01
IGL01906:Cep120	APN	18	53,714,912 (GRCm38)	missense	probably benign
IGL01941:Cep120	APN	18	53,723,148 (GRCm38)	missense	probably benign	0.00
IGL02952:Cep120	APN	18	53,683,228 (GRCm38)	utr 3 prime	probably benign
IGL03248:Cep120	APN	18	53,735,772 (GRCm38)	missense	probably benign	0.04
IGL03379:Cep120	APN	18	53,709,136 (GRCm38)	missense	probably benign
R0019:Cep120	UTSW	18	53,709,047 (GRCm38)	splice site	probably benign
R0039:Cep120	UTSW	18	53,685,961 (GRCm38)	missense	probably benign	0.24
R0763:Cep120	UTSW	18	53,721,737 (GRCm38)	missense	probably benign	0.00
R1015:Cep120	UTSW	18	53,703,121 (GRCm38)	critical splice donor site	probably null
R1340:Cep120	UTSW	18	53,724,391 (GRCm38)	missense	probably damaging	1.00
R1507:Cep120	UTSW	18	53,697,657 (GRCm38)	missense	probably damaging	0.99
R1649:Cep120	UTSW	18	53,724,576 (GRCm38)	missense	probably damaging	1.00
R1727:Cep120	UTSW	18	53,727,729 (GRCm38)	missense	probably benign	0.01
R1739:Cep120	UTSW	18	53,719,214 (GRCm38)	critical splice donor site	probably null
R1873:Cep120	UTSW	18	53,738,488 (GRCm38)	missense	probably damaging	0.98
R1913:Cep120	UTSW	18	53,723,286 (GRCm38)	missense	probably benign	0.26
R1995:Cep120	UTSW	18	53,740,136 (GRCm38)	missense	probably damaging	1.00
R2042:Cep120	UTSW	18	53,735,742 (GRCm38)	missense	possibly damaging	0.50
R2074:Cep120	UTSW	18	53,719,312 (GRCm38)	missense	possibly damaging	0.83
R2116:Cep120	UTSW	18	53,740,136 (GRCm38)	missense	probably damaging	1.00
R2215:Cep120	UTSW	18	53,727,635 (GRCm38)	missense	probably damaging	1.00
R2697:Cep120	UTSW	18	53,740,125 (GRCm38)	missense	probably benign	0.00
R3813:Cep120	UTSW	18	53,740,212 (GRCm38)	splice site	probably benign
R4012:Cep120	UTSW	18	53,738,582 (GRCm38)	missense	probably damaging	0.99
R4368:Cep120	UTSW	18	53,685,885 (GRCm38)	splice site	probably null
R4615:Cep120	UTSW	18	53,714,841 (GRCm38)	missense	probably damaging	1.00
R4772:Cep120	UTSW	18	53,718,489 (GRCm38)	missense	probably damaging	1.00
R4780:Cep120	UTSW	18	53,724,536 (GRCm38)	missense	probably benign	0.12
R5195:Cep120	UTSW	18	53,721,698 (GRCm38)	missense	probably damaging	1.00
R5991:Cep120	UTSW	18	53,721,798 (GRCm38)	missense	probably benign
R6156:Cep120	UTSW	18	53,703,223 (GRCm38)	missense	probably benign	0.00
R6188:Cep120	UTSW	18	53,724,457 (GRCm38)	missense	probably benign	0.03
R6688:Cep120	UTSW	18	53,724,536 (GRCm38)	missense	probably benign	0.12
R6961:Cep120	UTSW	18	53,703,205 (GRCm38)	nonsense	probably null
R7143:Cep120	UTSW	18	53,683,385 (GRCm38)	missense	probably benign	0.00
R7282:Cep120	UTSW	18	53,740,089 (GRCm38)	missense	probably damaging	1.00
R7813:Cep120	UTSW	18	53,738,506 (GRCm38)	missense	probably damaging	1.00
R7818:Cep120	UTSW	18	53,723,103 (GRCm38)	missense	probably benign
R8677:Cep120	UTSW	18	53,738,561 (GRCm38)	missense	possibly damaging	0.90
R8724:Cep120	UTSW	18	53,723,127 (GRCm38)	missense	possibly damaging	0.88
R9164:Cep120	UTSW	18	53,719,246 (GRCm38)	missense	probably benign	0.02
R9225:Cep120	UTSW	18	53,706,824 (GRCm38)	missense	probably benign	0.00
R9300:Cep120	UTSW	18	53,719,297 (GRCm38)	missense	probably damaging	0.99
R9312:Cep120	UTSW	18	53,727,641 (GRCm38)	missense	probably benign	0.08
R9377:Cep120	UTSW	18	53,718,520 (GRCm38)	missense	possibly damaging	0.66
R9390:Cep120	UTSW	18	53,706,912 (GRCm38)	nonsense	probably null
R9499:Cep120	UTSW	18	53,685,961 (GRCm38)	missense	possibly damaging	0.94
R9551:Cep120	UTSW	18	53,685,961 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGTCACTGTAGACCCCACTC -3'
(R):5'- GGAAAGGAAGCGTGTACTTTC -3'

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

Posted On

2014-08-25