Incidental Mutation 'R5105:Cep135'
ID 401977
Institutional Source Beutler Lab
Gene Symbol Cep135
Ensembl Gene ENSMUSG00000036403
Gene Name centrosomal protein 135
Synonyms Cep4, LOC381644
MMRRC Submission 042693-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5105 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 76736545-76794313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76741939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 125 (V125A)
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: V125A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: V125A

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: V125A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: V125A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (52/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btbd8 T G 5: 107,658,337 (GRCm39) S1124A possibly damaging Het
Camsap1 A G 2: 25,830,941 (GRCm39) S445P probably damaging Het
Ccdc92 G A 5: 124,912,858 (GRCm39) P224S probably damaging Het
Cep192 T A 18: 67,999,612 (GRCm39) C2159S probably benign Het
Col1a1 G T 11: 94,833,211 (GRCm39) R404L unknown Het
Col6a3 A T 1: 90,725,862 (GRCm39) M1382K possibly damaging Het
Cyp4a12b T C 4: 115,290,958 (GRCm39) S329P probably damaging Het
Dclk1 T G 3: 55,163,360 (GRCm39) S151A probably benign Het
Ddhd1 A T 14: 45,894,864 (GRCm39) V202E probably benign Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Dnah10 A G 5: 124,888,546 (GRCm39) E3050G probably benign Het
Dync1h1 T A 12: 110,584,366 (GRCm39) F590I probably damaging Het
Eif4b T C 15: 101,992,631 (GRCm39) Y63H probably benign Het
Fscb T C 12: 64,520,110 (GRCm39) E452G possibly damaging Het
Gpx3 A T 11: 54,797,980 (GRCm39) T39S possibly damaging Het
Grin2b T A 6: 135,709,439 (GRCm39) Y1369F probably benign Het
Kank4 A T 4: 98,667,396 (GRCm39) N350K probably benign Het
Kdm5d A G Y: 941,752 (GRCm39) K1318E probably benign Het
Large1 A T 8: 73,578,872 (GRCm39) Y444* probably null Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Lrrc47 A G 4: 154,096,673 (GRCm39) Q156R probably damaging Het
Lrriq4 T C 3: 30,704,632 (GRCm39) L220P probably damaging Het
Matn2 A G 15: 34,355,814 (GRCm39) D273G possibly damaging Het
Myo18b T A 5: 112,988,644 (GRCm39) I981F probably damaging Het
Or1q1 G A 2: 36,887,469 (GRCm39) probably null Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or5aq1 A G 2: 86,966,554 (GRCm39) I37T probably benign Het
Or6b13 A G 7: 139,782,462 (GRCm39) Y74H probably damaging Het
Or8d6 T C 9: 39,853,694 (GRCm39) V46A probably benign Het
Pkdrej T C 15: 85,700,585 (GRCm39) T1784A probably damaging Het
Ppp3cb A G 14: 20,559,490 (GRCm39) V422A possibly damaging Het
Rlf G A 4: 121,007,564 (GRCm39) T472I probably damaging Het
Scaf11 T C 15: 96,318,313 (GRCm39) E417G probably damaging Het
Shisa2 A T 14: 59,867,263 (GRCm39) T172S possibly damaging Het
Siglec1 T A 2: 130,922,320 (GRCm39) Q585L possibly damaging Het
Sorcs1 A T 19: 50,213,579 (GRCm39) M716K possibly damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Stxbp5l C A 16: 36,962,734 (GRCm39) V774F probably benign Het
Tcaf3 A G 6: 42,568,259 (GRCm39) F699S probably damaging Het
Tmem87b T C 2: 128,673,509 (GRCm39) V251A probably damaging Het
Trpc6 T A 9: 8,649,471 (GRCm39) N560K probably benign Het
Trpv4 T A 5: 114,764,981 (GRCm39) I678F probably damaging Het
Ttc3 A T 16: 94,267,793 (GRCm39) H1935L possibly damaging Het
Vmn2r59 T A 7: 41,696,529 (GRCm39) Y71F probably benign Het
Wdfy3 A G 5: 102,003,415 (GRCm39) I2900T probably damaging Het
Zfp184 A G 13: 22,143,799 (GRCm39) T502A possibly damaging Het
Zmym6 A G 4: 127,017,551 (GRCm39) I1019V 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
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'- AGTGGCAGACAGTGACTTC -3'
(R):5'- GGAAACCAGAGCGTTACCAG -3'

Sequencing Primer
(F):5'- AGTGACTTCGGCTTCCTACAGAG -3'
(R):5'- TACCAGGGGTCTGCACTATAG -3'
Posted On 2016-07-22