Incidental Mutation 'R5233:Cep135'
ID 398090
Institutional Source Beutler Lab
Gene Symbol Cep135
Ensembl Gene ENSMUSG00000036403
Gene Name centrosomal protein 135
Synonyms Cep4, LOC381644
MMRRC Submission 042805-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5233 (G1)
Quality Score 217
Status Validated
Chromosome 5
Chromosomal Location 76736545-76794313 bp(+) (GRCm39)
Type of Mutation small deletion (4 aa in frame mutation)
DNA Base Change (assembly) AGTCTGCCTTTGG to A at 76739690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049060] [ENSMUST00000121979]
AlphaFold Q6P5D4
Predicted Effect probably benign
Transcript: ENSMUST00000049060
SMART Domains Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000121979
SMART Domains Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (56/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030619P08Rik T A 15: 75,301,801 (GRCm39) noncoding transcript Het
Aadat A G 8: 60,979,656 (GRCm39) I173V probably benign Het
Acsl6 G A 11: 54,216,432 (GRCm39) V200I possibly damaging Het
Alms1 T A 6: 85,633,353 (GRCm39) probably null Het
Arhgef17 A T 7: 100,530,576 (GRCm39) D1403E possibly damaging Het
Atp10b A G 11: 43,121,387 (GRCm39) T1017A probably benign Het
Capg C T 6: 72,532,509 (GRCm39) R25C probably damaging Het
Cd22 A G 7: 30,576,959 (GRCm39) I116T probably damaging Het
Ciita A T 16: 10,327,265 (GRCm39) I277F possibly damaging Het
Col15a1 T C 4: 47,296,112 (GRCm39) V943A possibly damaging Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Csn3 C T 5: 88,077,694 (GRCm39) P67S probably benign Het
Csrnp3 A G 2: 65,852,684 (GRCm39) T359A possibly damaging Het
Cttnbp2nl A G 3: 104,912,357 (GRCm39) L509P probably damaging Het
Dclk3 A G 9: 111,297,749 (GRCm39) D431G probably benign Het
Dtx3l A T 16: 35,753,608 (GRCm39) C333S possibly damaging Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Fam171a1 G C 2: 3,179,390 (GRCm39) G72A probably damaging Het
Fbxw17 T C 13: 50,586,390 (GRCm39) probably benign Het
Fry A G 5: 150,393,185 (GRCm39) D605G possibly damaging Het
Fyn T C 10: 39,405,936 (GRCm39) F240S probably benign Het
Gcfc2 T C 6: 81,930,271 (GRCm39) L646P probably damaging Het
Gm5087 C T 14: 13,158,788 (GRCm38) noncoding transcript Het
Got2 T A 8: 96,602,477 (GRCm39) N91I probably benign Het
Hspa4 C T 11: 53,177,802 (GRCm39) V103I possibly damaging Het
Itgad A G 7: 127,792,600 (GRCm39) probably null Het
Krt33a A G 11: 99,904,961 (GRCm39) S182P probably damaging Het
Mcph1 T C 8: 18,721,254 (GRCm39) I694T probably damaging Het
Mmp15 T C 8: 96,097,696 (GRCm39) V502A probably benign Het
Mov10l1 T C 15: 88,867,235 (GRCm39) V23A probably benign Het
Myo9a T A 9: 59,817,900 (GRCm39) N2322K probably damaging Het
Ndst4 A G 3: 125,503,766 (GRCm39) Y11C probably damaging Het
Nell1 T C 7: 49,826,062 (GRCm39) F199S probably damaging Het
Nup210 C T 6: 91,003,951 (GRCm39) V646M probably damaging Het
Nup98 A T 7: 101,845,029 (GRCm39) S13R unknown Het
Nxf1 T C 19: 8,741,293 (GRCm39) I54T possibly damaging Het
Or8b38 A G 9: 37,973,446 (GRCm39) T277A probably damaging Het
Pcdh10 C A 3: 45,338,626 (GRCm39) R928S probably damaging Het
Pou3f3 A G 1: 42,737,438 (GRCm39) N378S probably benign Het
Rfx6 T A 10: 51,588,187 (GRCm39) Y109* probably null Het
Rorc T A 3: 94,304,632 (GRCm39) V339D probably benign Het
Scin T A 12: 40,127,558 (GRCm39) I411F probably benign Het
Serpind1 A G 16: 17,154,758 (GRCm39) Y195C probably damaging Het
Tas2r117 T C 6: 132,780,585 (GRCm39) V241A possibly damaging Het
Tet3 T A 6: 83,363,045 (GRCm39) E709V probably damaging Het
Trbc1 T A 6: 41,515,383 (GRCm39) probably benign Het
Vmn1r212 C A 13: 23,067,304 (GRCm39) G343V unknown Het
Vmn2r42 T A 7: 8,197,837 (GRCm39) K261* probably null Het
Xrcc5 T A 1: 72,379,209 (GRCm39) L438Q probably damaging Het
Zfp142 T C 1: 74,624,608 (GRCm39) N72S probably damaging Het
Zfp292 A T 4: 34,809,755 (GRCm39) S1096R probably damaging Het
Other mutations in Cep135
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0564:Cep135 UTSW 5 76,763,557 (GRCm39) missense probably damaging 1.00
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
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'- TTAGTACTATAGAGCACTGACGAC -3'
(R):5'- TGAGGACCAGGCTTAGGATG -3'

Sequencing Primer
(F):5'- CTATAGAGCACTGACGACATTAAAAG -3'
(R):5'- CCAGGCTTAGGATGAAAGAGAGACC -3'
Posted On 2016-07-06