Incidental Mutation 'R6622:Cep135'
ID 524507
Institutional Source Beutler Lab
Gene Symbol Cep135
Ensembl Gene ENSMUSG00000036403
Gene Name centrosomal protein 135
Synonyms Cep4, LOC381644
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6622 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 76736545-76794313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76788815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1136 (D1136G)
Ref Sequence ENSEMBL: ENSMUSP00000112602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049060] [ENSMUST00000121979]
AlphaFold Q6P5D4
Predicted Effect probably benign
Transcript: ENSMUST00000049060
AA Change: D1136G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: D1136G

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
AA Change: D1136G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: D1136G

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A C 5: 81,942,606 (GRCm39) D1412A probably benign Het
Arhgap26 A G 18: 39,032,916 (GRCm39) probably benign Het
Card14 A G 11: 119,224,814 (GRCm39) M614V probably benign Het
Cbx2 A G 11: 118,919,961 (GRCm39) T509A probably damaging Het
Cep170 T A 1: 176,583,898 (GRCm39) Q827L probably damaging Het
Clock A T 5: 76,389,801 (GRCm39) I349K probably damaging Het
Cnppd1 A T 1: 75,113,539 (GRCm39) V243E probably damaging Het
Cops3 A G 11: 59,723,960 (GRCm39) F93L probably damaging Het
Cplane1 C A 15: 8,273,706 (GRCm39) A2563D probably damaging Het
Cxxc5 T G 18: 35,992,372 (GRCm39) C258G possibly damaging Het
Cycs G A 6: 50,543,443 (GRCm39) probably benign Het
Cyp2c40 A T 19: 39,790,990 (GRCm39) H280Q probably damaging Het
Cyp4f14 C T 17: 33,133,619 (GRCm39) R79H probably benign Het
Dnajc27 A G 12: 4,153,114 (GRCm39) S197G probably benign Het
Dscam C T 16: 96,446,273 (GRCm39) G1456E probably benign Het
Dst G A 1: 34,218,332 (GRCm39) V1591I probably benign Het
Epha5 A G 5: 84,385,387 (GRCm39) S315P possibly damaging Het
Frmd4a A G 2: 4,610,873 (GRCm39) T1012A probably benign Het
Fxr2 G A 11: 69,532,416 (GRCm39) probably null Het
Hcn4 T A 9: 58,765,010 (GRCm39) V534E unknown Het
Hrh4 A G 18: 13,155,454 (GRCm39) Y331C probably damaging Het
Insyn1 A G 9: 58,406,533 (GRCm39) I148V probably benign Het
Kif16b T A 2: 142,554,362 (GRCm39) H812L probably benign Het
Krt14 T A 11: 100,094,786 (GRCm39) R451S probably benign Het
Man2b1 A G 8: 85,811,108 (GRCm39) T80A probably damaging Het
Nedd4l A G 18: 65,307,305 (GRCm39) T383A probably damaging Het
Pcdha9 T A 18: 37,131,707 (GRCm39) L259M possibly damaging Het
Pdgfd T C 9: 6,293,818 (GRCm39) C131R probably damaging Het
Prrc2a C G 17: 35,374,396 (GRCm39) R1418P probably damaging Het
Ptpra G T 2: 30,327,589 (GRCm39) E114D probably damaging Het
Ptprt A T 2: 161,395,760 (GRCm39) C1157S probably damaging Het
Rnf126 A T 10: 79,597,397 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sel1l3 A G 5: 53,297,202 (GRCm39) V748A probably damaging Het
Serinc5 T A 13: 92,825,194 (GRCm39) S208T probably benign Het
Sftpb A G 6: 72,282,639 (GRCm39) I74V possibly damaging Het
Slc22a14 A C 9: 118,999,643 (GRCm39) I516S possibly damaging Het
Slco2a1 G A 9: 102,951,704 (GRCm39) C411Y possibly damaging Het
Spata31f1e T A 4: 42,793,111 (GRCm39) L340F probably damaging Het
Tent5a G T 9: 85,208,509 (GRCm39) R105S probably damaging Het
Tet3 G A 6: 83,380,426 (GRCm39) P581S probably benign Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Tnrc6b T A 15: 80,763,385 (GRCm39) W296R probably damaging Het
Trpm1 T A 7: 63,890,343 (GRCm39) L982H probably damaging Het
Ttn C A 2: 76,550,862 (GRCm39) R23183I possibly damaging Het
Tuft1 T A 3: 94,542,726 (GRCm39) Y46F probably damaging Het
Vmn1r167 T A 7: 23,205,014 (GRCm39) M1L probably null Het
Zfp808 A G 13: 62,319,646 (GRCm39) R292G possibly damaging Het
Zp2 T C 7: 119,731,748 (GRCm39) E669G probably benign Het
Zp2 C T 7: 119,741,136 (GRCm39) M129I probably benign 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
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
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'- GCACTAGCAGGTGTTCTGTAG -3'
(R):5'- CACAGTGAAATGCAGAGCAC -3'

Sequencing Primer
(F):5'- GTGTTCTGTAGTGGACTAATAACCCC -3'
(R):5'- TGTGACTATGACATGCCACC -3'
Posted On 2018-06-22