Incidental Mutation 'R0704:Cep135'
ID 63087
Institutional Source Beutler Lab
Gene Symbol Cep135
Ensembl Gene ENSMUSG00000036403
Gene Name centrosomal protein 135
Synonyms Cep4, LOC381644
MMRRC Submission 038887-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0704 (G1)
Quality Score 153
Status Not validated
Chromosome 5
Chromosomal Location 76736545-76794313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76778796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 741 (E741G)
Ref Sequence ENSEMBL: ENSMUSP00000112602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049060] [ENSMUST00000121979]
AlphaFold Q6P5D4
Predicted Effect possibly damaging
Transcript: ENSMUST00000049060
AA Change: E741G

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: E741G

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 possibly damaging
Transcript: ENSMUST00000121979
AA Change: E741G

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: E741G

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,643,381 (GRCm39) L441Q probably damaging Het
Abca15 A T 7: 119,953,746 (GRCm39) E550V probably damaging Het
Adcy4 A G 14: 56,010,213 (GRCm39) F690L probably benign Het
Aspg T A 12: 112,080,906 (GRCm39) N132K probably damaging Het
B430305J03Rik A T 3: 61,271,414 (GRCm39) Y110* probably null Het
Cplane1 T C 15: 8,239,567 (GRCm39) V1256A possibly damaging Het
Dkkl1 T C 7: 44,859,539 (GRCm39) K128E probably damaging Het
Duox2 A T 2: 122,115,249 (GRCm39) M1101K probably benign Het
Gpr89 T C 3: 96,787,484 (GRCm39) probably null Het
Hormad1 T C 3: 95,473,997 (GRCm39) probably null Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Itga2 A G 13: 114,998,911 (GRCm39) F658S possibly damaging Het
Kcnc4 T C 3: 107,355,279 (GRCm39) I390V possibly damaging Het
Krt84 G T 15: 101,441,112 (GRCm39) H27N probably benign Het
Lama5 A G 2: 179,821,277 (GRCm39) I3095T possibly damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Ms4a1 T C 19: 11,230,596 (GRCm39) T202A probably benign Het
Nrbp2 A G 15: 75,960,801 (GRCm39) S294P probably damaging Het
Or6b13 A G 7: 139,782,548 (GRCm39) V45A probably benign Het
Or6c215 A G 10: 129,638,172 (GRCm39) V74A probably benign Het
Pde4b C T 4: 102,344,589 (GRCm39) L155F probably damaging Het
Pds5a A G 5: 65,777,928 (GRCm39) S6P probably damaging Het
Ralgapa2 A T 2: 146,293,704 (GRCm39) L150Q probably damaging Het
Reln C T 5: 22,101,809 (GRCm39) V3374I probably damaging Het
Rgs12 T G 5: 35,180,466 (GRCm39) S253A possibly damaging Het
Sap130 C A 18: 31,786,607 (GRCm39) T266K probably damaging Het
Sis T C 3: 72,857,155 (GRCm39) I379V possibly damaging Het
Slc39a10 T A 1: 46,875,021 (GRCm39) I94F possibly damaging Het
Sptb A T 12: 76,630,368 (GRCm39) N2263K probably damaging Het
Srsf12 A G 4: 33,231,069 (GRCm39) R188G probably damaging Het
Ssxb9 T G X: 8,238,022 (GRCm39) S130R probably damaging Het
Tg A G 15: 66,629,729 (GRCm39) D470G probably benign Het
Urb1 T C 16: 90,573,095 (GRCm39) Q979R probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Zfp78 T A 7: 6,382,251 (GRCm39) C402S 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
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'- ATGACTGTCAGCACCGACTTTCC -3'
(R):5'- ACTGTGACCTTCAACTGGGCAATG -3'

Sequencing Primer
(F):5'- AGGTGAACTTGAATCAGCCC -3'
(R):5'- AAGAGCTGACGTGGCTTC -3'
Posted On 2013-07-30