Incidental Mutation 'IGL02832:Cep135'
ID361463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep135
Ensembl Gene ENSMUSG00000036403
Gene Namecentrosomal protein 135
SynonymsLOC381644, Cep4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02832
Quality Score
Status
Chromosome5
Chromosomal Location76588698-76646466 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 76640949 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 1130 (S1130T)
Ref Sequence ENSEMBL: ENSMUSP00000112602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049060] [ENSMUST00000121979]
Predicted Effect probably damaging
Transcript: ENSMUST00000049060
AA Change: S1130T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: S1130T

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 damaging
Transcript: ENSMUST00000121979
AA Change: S1130T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: S1130T

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
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
Adamts9 G A 6: 92,807,175 T985M probably damaging Het
Alpk1 A G 3: 127,679,943 S804P possibly damaging Het
Ap3b1 A G 13: 94,528,327 I925V unknown Het
Cers3 A T 7: 66,781,825 M183L probably benign Het
Col5a1 A G 2: 27,952,340 E409G unknown Het
Cyp4a32 G T 4: 115,614,621 V410F probably damaging Het
Ddx1 G A 12: 13,227,317 Q528* probably null Het
Dio2 G A 12: 90,729,404 probably benign Het
Dnah9 G T 11: 66,040,346 A2008E probably damaging Het
Dnajc2 A G 5: 21,760,410 V457A probably benign Het
Dytn T C 1: 63,643,373 T372A probably benign Het
Fam135a T C 1: 24,028,633 I152V probably benign Het
Fmnl2 C T 2: 52,858,249 A36V possibly damaging Het
Galnt7 G A 8: 57,552,497 T234I probably damaging Het
Gba A C 3: 89,203,502 I6L probably benign Het
Gja10 A G 4: 32,602,147 V79A probably damaging Het
Gpd2 T A 2: 57,338,979 V265E probably damaging Het
Gpld1 T C 13: 24,952,878 Y60H probably damaging Het
Heatr9 A G 11: 83,518,846 probably benign Het
Hist3h2ba A G 11: 58,949,043 K35R probably benign Het
Krt75 T A 15: 101,568,073 D419V probably benign Het
Lrig3 A T 10: 126,007,002 I599F probably benign Het
Lrp4 A G 2: 91,511,580 D1846G probably damaging Het
Mamdc2 C T 19: 23,303,851 A653T probably damaging Het
Myo7a A T 7: 98,091,020 probably null Het
Notch2 A G 3: 98,137,373 D1537G probably benign Het
Olfr370 G A 8: 83,541,471 C109Y probably damaging Het
Olfr559 G T 7: 102,723,651 H280N probably benign Het
Olfr608 A T 7: 103,470,698 I220L probably benign Het
Papss1 A C 3: 131,582,519 D84A probably damaging Het
Pcdhb16 T A 18: 37,478,474 D162E probably damaging Het
Rab11fip1 C T 8: 27,152,812 R653Q possibly damaging Het
Rap1gap2 A T 11: 74,412,455 probably benign Het
Rasal2 T C 1: 157,157,207 D990G probably damaging Het
Rnf32 T C 5: 29,205,703 probably null Het
Rp1 T C 1: 4,349,713 D392G probably benign Het
Scn9a T C 2: 66,568,029 D79G probably damaging Het
Selenon A T 4: 134,540,908 V438D probably damaging Het
Slc47a1 G A 11: 61,363,413 H158Y probably benign Het
Slc5a12 A T 2: 110,640,815 E463D probably benign Het
Taf2 C T 15: 55,016,563 V1126M probably benign Het
Tas2r143 G T 6: 42,400,325 V30L possibly damaging Het
Tcea3 G A 4: 136,268,113 V256M probably damaging Het
Thy1 A G 9: 44,046,814 T80A probably benign Het
Tmem9 A G 1: 136,019,731 N47S probably damaging Het
Tmprss11g T C 5: 86,497,269 Q101R probably benign Het
Trim66 C T 7: 109,460,497 C792Y probably damaging Het
Tstd2 A T 4: 46,124,949 M226K probably damaging Het
Utrn G T 10: 12,738,193 T378K possibly damaging Het
Vmn2r23 A G 6: 123,704,396 I88V probably benign Het
Other mutations in Cep135
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Cep135 APN 5 76601459 missense probably damaging 0.98
IGL01154:Cep135 APN 5 76606796 splice site probably benign
IGL01323:Cep135 APN 5 76591765 missense probably benign 0.29
IGL01599:Cep135 APN 5 76593347 missense possibly damaging 0.93
IGL01923:Cep135 APN 5 76640982 makesense probably null
IGL02178:Cep135 APN 5 76595474 missense probably damaging 1.00
IGL02276:Cep135 APN 5 76634246 missense probably benign 0.00
IGL02344:Cep135 APN 5 76616821 missense probably benign
IGL02394:Cep135 APN 5 76631471 missense probably benign 0.02
IGL02740:Cep135 APN 5 76638268 critical splice donor site probably null
R0026:Cep135 UTSW 5 76606734 nonsense probably null
R0060:Cep135 UTSW 5 76621350 missense probably benign 0.20
R0325:Cep135 UTSW 5 76615743 missense probably damaging 0.98
R0336:Cep135 UTSW 5 76601502 missense probably benign 0.07
R0564:Cep135 UTSW 5 76615710 missense probably damaging 1.00
R0564:Cep135 UTSW 5 76638949 missense probably benign 0.03
R0600:Cep135 UTSW 5 76621305 missense probably benign
R0636:Cep135 UTSW 5 76615657 missense probably benign 0.07
R0704:Cep135 UTSW 5 76630949 missense possibly damaging 0.62
R0835:Cep135 UTSW 5 76615706 missense probably benign 0.40
R1015:Cep135 UTSW 5 76640997 critical splice donor site probably null
R1167:Cep135 UTSW 5 76624637 missense probably damaging 1.00
R1252:Cep135 UTSW 5 76594115 missense possibly damaging 0.67
R1554:Cep135 UTSW 5 76634213 nonsense probably null
R1770:Cep135 UTSW 5 76603195 missense possibly damaging 0.95
R1804:Cep135 UTSW 5 76636932 missense probably benign 0.22
R1968:Cep135 UTSW 5 76624747 missense possibly damaging 0.96
R1987:Cep135 UTSW 5 76597428 missense probably benign 0.00
R1996:Cep135 UTSW 5 76632266 missense probably benign 0.08
R2004:Cep135 UTSW 5 76632329 critical splice donor site probably null
R2178:Cep135 UTSW 5 76631450 missense probably benign 0.00
R2305:Cep135 UTSW 5 76595389 splice site probably benign
R2679:Cep135 UTSW 5 76624660 missense probably benign
R3125:Cep135 UTSW 5 76621363 critical splice donor site probably null
R3623:Cep135 UTSW 5 76624739 missense probably benign 0.00
R4359:Cep135 UTSW 5 76611714 missense possibly damaging 0.47
R4407:Cep135 UTSW 5 76624667 missense probably benign
R4561:Cep135 UTSW 5 76638193 missense possibly damaging 0.95
R4666:Cep135 UTSW 5 76616854 missense probably benign
R4945:Cep135 UTSW 5 76597428 missense probably benign 0.00
R5105:Cep135 UTSW 5 76594092 missense probably benign 0.00
R5117:Cep135 UTSW 5 76631429 missense probably benign 0.01
R5176:Cep135 UTSW 5 76637026 missense probably benign 0.04
R5194:Cep135 UTSW 5 76615777 missense probably benign 0.05
R5233:Cep135 UTSW 5 76591843 small deletion probably benign
R5275:Cep135 UTSW 5 76593204 missense possibly damaging 0.94
R5295:Cep135 UTSW 5 76593204 missense possibly damaging 0.94
R5412:Cep135 UTSW 5 76616862 missense probably benign 0.00
R5427:Cep135 UTSW 5 76638202 missense probably benign 0.00
R5801:Cep135 UTSW 5 76630676 missense probably damaging 1.00
R5975:Cep135 UTSW 5 76640890 missense possibly damaging 0.94
R6087:Cep135 UTSW 5 76615791 critical splice donor site probably null
R6176:Cep135 UTSW 5 76624643 missense probably benign
R6210:Cep135 UTSW 5 76624723 missense probably benign 0.15
R6456:Cep135 UTSW 5 76591724 start gained probably benign
R6467:Cep135 UTSW 5 76621340 missense possibly damaging 0.50
R6622:Cep135 UTSW 5 76640968 missense probably benign 0.00
R6650:Cep135 UTSW 5 76633701 missense possibly damaging 0.77
R6838:Cep135 UTSW 5 76632215 missense probably damaging 1.00
R7028:Cep135 UTSW 5 76616848 missense probably benign
R7049:Cep135 UTSW 5 76606738 missense probably benign 0.01
R7095:Cep135 UTSW 5 76594058 missense probably benign 0.10
R7207:Cep135 UTSW 5 76632243 missense probably benign 0.00
R7330:Cep135 UTSW 5 76606745 nonsense probably null
R7369:Cep135 UTSW 5 76593253 missense possibly damaging 0.94
R7741:Cep135 UTSW 5 76630970 missense probably damaging 0.99
Posted On2015-12-18