Incidental Mutation 'IGL02178:Cep135'
ID283214
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 #IGL02178
Quality Score
Status
Chromosome5
Chromosomal Location76588698-76646466 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76595474 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 185 (Y185C)
Ref Sequence ENSEMBL: ENSMUSP00000112602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049060] [ENSMUST00000121979]
Predicted Effect probably damaging
Transcript: ENSMUST00000049060
AA Change: Y185C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: Y185C

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: Y185C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: Y185C

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,662,461 T516S possibly damaging Het
6820408C15Rik T C 2: 152,428,001 probably benign Het
Ak5 T C 3: 152,526,785 D331G probably benign Het
Ar A G X: 98,305,438 D675G probably damaging Het
Arhgap23 A G 11: 97,452,353 D276G probably benign Het
Arhgef3 C T 14: 27,265,529 R40* probably null Het
Atp1b4 G T X: 38,332,818 R293L possibly damaging Het
Borcs8 T C 8: 70,165,247 L85P probably damaging Het
Carmil1 T G 13: 24,094,403 K194N probably damaging Het
Catsper4 T A 4: 134,227,326 K4N probably benign Het
Ccdc30 T C 4: 119,349,724 probably benign Het
Cd101 A G 3: 100,993,766 S997P probably damaging Het
Cdkl5 G A X: 160,816,893 T792I probably benign Het
Clcn5 A G X: 7,186,324 Y59H possibly damaging Het
Col6a1 A T 10: 76,711,075 I771N unknown Het
Crispld1 C T 1: 17,762,103 probably benign Het
Fam109b T A 15: 82,343,326 D15E possibly damaging Het
Fbxl13 A G 5: 21,620,720 I128T possibly damaging Het
Gga1 T A 15: 78,892,047 M430K probably benign Het
Has2 A G 15: 56,682,060 Y49H probably damaging Het
Ivd A G 2: 118,871,434 I116V probably benign Het
Krt75 T C 15: 101,572,791 N183D probably benign Het
Map3k9 A T 12: 81,743,837 I314N probably damaging Het
Map6d1 T G 16: 20,236,698 E129D probably damaging Het
Mettl22 T C 16: 8,478,282 V145A probably benign Het
Muc5ac T A 7: 141,805,447 probably benign Het
Mycbp2 A G 14: 103,224,366 F1416L probably benign Het
Nlrc4 T C 17: 74,446,843 I182V probably damaging Het
Olfr1351 T C 10: 79,017,720 Y133H possibly damaging Het
Olfr1444 T A 19: 12,862,543 I256N possibly damaging Het
Phc3 T C 3: 30,929,863 T668A possibly damaging Het
Ppp2r2a T C 14: 67,023,097 Y244C probably damaging Het
Prkcq A C 2: 11,277,040 Y460S possibly damaging Het
Prmt8 T A 6: 127,697,807 E286V probably benign Het
Ptprb A T 10: 116,322,532 M503L probably benign Het
Ptprq A T 10: 107,686,319 D590E probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rps6kc1 A T 1: 190,871,836 S196R possibly damaging Het
Ryr3 A G 2: 112,825,799 Y1951H probably benign Het
Sbno1 A T 5: 124,400,195 probably null Het
Sde2 T G 1: 180,851,231 L20R possibly damaging Het
Slco1a5 A T 6: 142,262,688 C81* probably null Het
Snx2 A G 18: 53,199,785 E177G possibly damaging Het
Spg11 A T 2: 122,097,302 V667D probably damaging Het
Tas2r115 T C 6: 132,737,308 T227A probably benign Het
Tmed9 A G 13: 55,593,295 H41R possibly damaging Het
Vmn1r35 T G 6: 66,679,102 S28R probably damaging Het
Vmn2r110 A C 17: 20,584,444 probably null Het
Vstm2l T C 2: 157,935,417 Y72H probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zbtb4 A T 11: 69,776,429 R187* probably null Het
Zfp598 A G 17: 24,677,543 D198G probably damaging Het
Zp2 G T 7: 120,133,750 A629E possibly damaging 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
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
IGL02832:Cep135 APN 5 76640949 missense probably damaging 0.98
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
Posted On2015-04-16