Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Cep135'

46062

Institutional Source

Beutler Lab

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

Cep4, LOC381644

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0564 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

76736545-76794313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76763557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 516 (E516K)

Ref Sequence

ENSEMBL: ENSMUSP00000112602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049060] [ENSMUST00000121979]

AlphaFold

Q6P5D4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049060
AA Change: E516K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: E516K

Domain	Start	End	E-Value	Type
internal_repeat_1	47	71	1.87e-5	PROSPERO
low complexity region	78	92	N/A	INTRINSIC
internal_repeat_1	100	124	1.87e-5	PROSPERO
coiled coil region	125	153	N/A	INTRINSIC
coiled coil region	194	245	N/A	INTRINSIC
coiled coil region	267	420	N/A	INTRINSIC
coiled coil region	445	470	N/A	INTRINSIC
Blast:HAMP	492	527	5e-11	BLAST
Blast:SPEC	760	863	6e-21	BLAST
low complexity region	1060	1072	N/A	INTRINSIC
coiled coil region	1075	1117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121979
AA Change: E516K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: E516K

Domain	Start	End	E-Value	Type
internal_repeat_1	47	71	1.87e-5	PROSPERO
low complexity region	78	92	N/A	INTRINSIC
internal_repeat_1	100	124	1.87e-5	PROSPERO
coiled coil region	125	153	N/A	INTRINSIC
coiled coil region	194	245	N/A	INTRINSIC
coiled coil region	267	420	N/A	INTRINSIC
coiled coil region	445	470	N/A	INTRINSIC
Blast:HAMP	492	527	5e-11	BLAST
Blast:SPEC	760	863	6e-21	BLAST
low complexity region	1060	1072	N/A	INTRINSIC
coiled coil region	1075	1117	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130651

Meta Mutation Damage Score

0.0969

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,180,681 (GRCm39)	V127A	probably damaging	Het
Alox12	T	A	11: 70,143,662 (GRCm39)	D202V	probably damaging	Het
Ankib1	A	G	5: 3,779,655 (GRCm39)	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,609,593 (GRCm39)	M18K	probably damaging	Het
Atad2	C	A	15: 57,989,229 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,932,238 (GRCm39)		probably benign	Het
Ccdc126	T	C	6: 49,311,076 (GRCm39)	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,831,618 (GRCm39)	D617V	probably damaging	Het
Col6a3	A	C	1: 90,735,456 (GRCm39)	V731G	probably damaging	Het
Cstdc6	A	T	16: 36,143,346 (GRCm39)	Y34*	probably null	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Dip2b	C	A	15: 100,060,600 (GRCm39)	Y258*	probably null	Het
Dnah17	A	G	11: 117,973,807 (GRCm39)	V1900A	probably damaging	Het
Dpysl2	A	T	14: 67,042,895 (GRCm39)		probably benign	Het
Dync2h1	A	T	9: 7,139,432 (GRCm39)	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,000,506 (GRCm39)	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,111,308 (GRCm39)	V154D	probably benign	Het
Frem2	A	G	3: 53,563,530 (GRCm39)	F326L	probably damaging	Het
Gm4922	T	A	10: 18,659,813 (GRCm39)	N303I	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,523,523 (GRCm39)	V214M	probably damaging	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Mcc	A	G	18: 44,601,574 (GRCm39)	L410P	probably damaging	Het
Mfn2	A	G	4: 147,967,712 (GRCm39)	F452S	probably damaging	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Micu2	A	G	14: 58,156,831 (GRCm39)	F335L	possibly damaging	Het
Mpp3	T	G	11: 101,896,173 (GRCm39)	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,489,714 (GRCm39)	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,448,585 (GRCm39)	I263V	probably benign	Het
Or52p2	T	C	7: 102,237,738 (GRCm39)	I71V	probably benign	Het
Or6c76	T	G	10: 129,612,005 (GRCm39)	V74G	probably damaging	Het
Pdk1	G	A	2: 71,710,383 (GRCm39)	W113*	probably null	Het
Phaf1	T	A	8: 105,966,603 (GRCm39)		probably benign	Het
Phxr4	A	T	9: 13,342,993 (GRCm39)		probably benign	Het
Rad51ap2	T	A	12: 11,507,897 (GRCm39)	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,829,670 (GRCm39)	I187K	possibly damaging	Het
Rps27	A	G	3: 90,120,230 (GRCm39)		probably benign	Het
Sema3e	T	A	5: 14,286,099 (GRCm39)		probably null	Het
Sh2d3c	G	A	2: 32,643,064 (GRCm39)	C749Y	probably damaging	Het
Siah2	T	C	3: 58,583,656 (GRCm39)	D210G	probably benign	Het
Smap2	G	A	4: 120,834,174 (GRCm39)	P155S	probably benign	Het
Snrk	C	T	9: 121,995,610 (GRCm39)	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,233,964 (GRCm39)		probably benign	Het
Tmem132d	C	T	5: 127,861,842 (GRCm39)	E760K	probably damaging	Het
Tmem184c	A	T	8: 78,332,789 (GRCm39)		probably null	Het
Tmem235	A	T	11: 117,751,674 (GRCm39)	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,629,175 (GRCm39)		probably null	Het
Top1	G	A	2: 160,556,185 (GRCm39)	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,908 (GRCm39)	N527D	probably damaging	Het
Upf3a	A	G	8: 13,845,656 (GRCm39)	K252E	probably benign	Het

Other mutations in Cep135

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Cep135	APN	5	76,749,306 (GRCm39)	missense	probably damaging	0.98
IGL01154:Cep135	APN	5	76,754,643 (GRCm39)	splice site	probably benign
IGL01323:Cep135	APN	5	76,739,612 (GRCm39)	missense	probably benign	0.29
IGL01599:Cep135	APN	5	76,741,194 (GRCm39)	missense	possibly damaging	0.93
IGL01923:Cep135	APN	5	76,788,829 (GRCm39)	makesense	probably null
IGL02178:Cep135	APN	5	76,743,321 (GRCm39)	missense	probably damaging	1.00
IGL02276:Cep135	APN	5	76,782,093 (GRCm39)	missense	probably benign	0.00
IGL02344:Cep135	APN	5	76,764,668 (GRCm39)	missense	probably benign
IGL02394:Cep135	APN	5	76,779,318 (GRCm39)	missense	probably benign	0.02
IGL02740:Cep135	APN	5	76,786,115 (GRCm39)	critical splice donor site	probably null
IGL02832:Cep135	APN	5	76,788,796 (GRCm39)	missense	probably damaging	0.98
R0026:Cep135	UTSW	5	76,754,581 (GRCm39)	nonsense	probably null
R0060:Cep135	UTSW	5	76,769,197 (GRCm39)	missense	probably benign	0.20
R0325:Cep135	UTSW	5	76,763,590 (GRCm39)	missense	probably damaging	0.98
R0336:Cep135	UTSW	5	76,749,349 (GRCm39)	missense	probably benign	0.07
R0564:Cep135	UTSW	5	76,786,796 (GRCm39)	missense	probably benign	0.03
R0600:Cep135	UTSW	5	76,769,152 (GRCm39)	missense	probably benign
R0636:Cep135	UTSW	5	76,763,504 (GRCm39)	missense	probably benign	0.07
R0704:Cep135	UTSW	5	76,778,796 (GRCm39)	missense	possibly damaging	0.62
R0835:Cep135	UTSW	5	76,763,553 (GRCm39)	missense	probably benign	0.40
R1015:Cep135	UTSW	5	76,788,844 (GRCm39)	critical splice donor site	probably null
R1167:Cep135	UTSW	5	76,772,484 (GRCm39)	missense	probably damaging	1.00
R1252:Cep135	UTSW	5	76,741,962 (GRCm39)	missense	possibly damaging	0.67
R1554:Cep135	UTSW	5	76,782,060 (GRCm39)	nonsense	probably null
R1770:Cep135	UTSW	5	76,751,042 (GRCm39)	missense	possibly damaging	0.95
R1804:Cep135	UTSW	5	76,784,779 (GRCm39)	missense	probably benign	0.22
R1968:Cep135	UTSW	5	76,772,594 (GRCm39)	missense	possibly damaging	0.96
R1987:Cep135	UTSW	5	76,745,275 (GRCm39)	missense	probably benign	0.00
R1996:Cep135	UTSW	5	76,780,113 (GRCm39)	missense	probably benign	0.08
R2004:Cep135	UTSW	5	76,780,176 (GRCm39)	critical splice donor site	probably null
R2178:Cep135	UTSW	5	76,779,297 (GRCm39)	missense	probably benign	0.00
R2305:Cep135	UTSW	5	76,743,236 (GRCm39)	splice site	probably benign
R2679:Cep135	UTSW	5	76,772,507 (GRCm39)	missense	probably benign
R3125:Cep135	UTSW	5	76,769,210 (GRCm39)	critical splice donor site	probably null
R3623:Cep135	UTSW	5	76,772,586 (GRCm39)	missense	probably benign	0.00
R4359:Cep135	UTSW	5	76,759,561 (GRCm39)	missense	possibly damaging	0.47
R4407:Cep135	UTSW	5	76,772,514 (GRCm39)	missense	probably benign
R4561:Cep135	UTSW	5	76,786,040 (GRCm39)	missense	possibly damaging	0.95
R4666:Cep135	UTSW	5	76,764,701 (GRCm39)	missense	probably benign
R4945:Cep135	UTSW	5	76,745,275 (GRCm39)	missense	probably benign	0.00
R5105:Cep135	UTSW	5	76,741,939 (GRCm39)	missense	probably benign	0.00
R5117:Cep135	UTSW	5	76,779,276 (GRCm39)	missense	probably benign	0.01
R5176:Cep135	UTSW	5	76,784,873 (GRCm39)	missense	probably benign	0.04
R5194:Cep135	UTSW	5	76,763,624 (GRCm39)	missense	probably benign	0.05
R5233:Cep135	UTSW	5	76,739,690 (GRCm39)	small deletion	probably benign
R5275:Cep135	UTSW	5	76,741,051 (GRCm39)	missense	possibly damaging	0.94
R5295:Cep135	UTSW	5	76,741,051 (GRCm39)	missense	possibly damaging	0.94
R5412:Cep135	UTSW	5	76,764,709 (GRCm39)	missense	probably benign	0.00
R5427:Cep135	UTSW	5	76,786,049 (GRCm39)	missense	probably benign	0.00
R5801:Cep135	UTSW	5	76,778,523 (GRCm39)	missense	probably damaging	1.00
R5975:Cep135	UTSW	5	76,788,737 (GRCm39)	missense	possibly damaging	0.94
R6087:Cep135	UTSW	5	76,763,638 (GRCm39)	critical splice donor site	probably null
R6176:Cep135	UTSW	5	76,772,490 (GRCm39)	missense	probably benign
R6210:Cep135	UTSW	5	76,772,570 (GRCm39)	missense	probably benign	0.15
R6456:Cep135	UTSW	5	76,739,571 (GRCm39)	start gained	probably benign
R6467:Cep135	UTSW	5	76,769,187 (GRCm39)	missense	possibly damaging	0.50
R6622:Cep135	UTSW	5	76,788,815 (GRCm39)	missense	probably benign	0.00
R6650:Cep135	UTSW	5	76,781,548 (GRCm39)	missense	possibly damaging	0.77
R6838:Cep135	UTSW	5	76,780,062 (GRCm39)	missense	probably damaging	1.00
R7028:Cep135	UTSW	5	76,764,695 (GRCm39)	missense	probably benign
R7049:Cep135	UTSW	5	76,754,585 (GRCm39)	missense	probably benign	0.01
R7095:Cep135	UTSW	5	76,741,905 (GRCm39)	missense	probably benign	0.10
R7207:Cep135	UTSW	5	76,780,090 (GRCm39)	missense	probably benign	0.00
R7330:Cep135	UTSW	5	76,754,592 (GRCm39)	nonsense	probably null
R7369:Cep135	UTSW	5	76,741,100 (GRCm39)	missense	possibly damaging	0.94
R7741:Cep135	UTSW	5	76,778,817 (GRCm39)	missense	probably damaging	0.99
R7850:Cep135	UTSW	5	76,739,720 (GRCm39)	critical splice donor site	probably null
R7869:Cep135	UTSW	5	76,788,803 (GRCm39)	missense	probably benign	0.00
R7923:Cep135	UTSW	5	76,757,539 (GRCm39)	missense	possibly damaging	0.90
R8303:Cep135	UTSW	5	76,759,575 (GRCm39)	missense	probably damaging	1.00
R8312:Cep135	UTSW	5	76,784,746 (GRCm39)	missense	probably damaging	1.00
R8424:Cep135	UTSW	5	76,741,906 (GRCm39)	missense	possibly damaging	0.64
R8490:Cep135	UTSW	5	76,786,054 (GRCm39)	missense	probably benign	0.00
R8967:Cep135	UTSW	5	76,751,165 (GRCm39)	missense	probably damaging	1.00
R8968:Cep135	UTSW	5	76,754,576 (GRCm39)	missense	possibly damaging	0.88
R9126:Cep135	UTSW	5	76,781,550 (GRCm39)	missense	probably benign	0.08
R9726:Cep135	UTSW	5	76,741,151 (GRCm39)	missense	probably benign
Z1177:Cep135	UTSW	5	76,739,673 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTCACCAGCAGGATTGTGACAAC -3'
(R):5'- CAGGCACTCTAACTTGGAGGCTAAC -3'

Sequencing Primer
(F):5'- CAGGATTGTGACAACCATGC -3'
(R):5'- CCAAGGACAATTTTGGCTCAG -3'

Posted On

2013-06-11