Incidental Mutation 'R5802:Cep70'
ID 448794
Institutional Source Beutler Lab
Gene Symbol Cep70
Ensembl Gene ENSMUSG00000056267
Gene Name centrosomal protein 70
Synonyms C030018L16Rik, 6720484E09Rik
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 99125420-99182457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99178458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 519 (N519D)
Ref Sequence ENSEMBL: ENSMUSP00000139816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093795] [ENSMUST00000191335]
AlphaFold Q6IQY5
Predicted Effect probably damaging
Transcript: ENSMUST00000093795
AA Change: N519D

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091312
Gene: ENSMUSG00000056267
AA Change: N519D

DomainStartEndE-ValueType
coiled coil region 96 210 N/A INTRINSIC
coiled coil region 278 299 N/A INTRINSIC
low complexity region 319 335 N/A INTRINSIC
low complexity region 528 544 N/A INTRINSIC
low complexity region 591 602 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187883
Predicted Effect probably damaging
Transcript: ENSMUST00000191335
AA Change: N519D

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139816
Gene: ENSMUSG00000056267
AA Change: N519D

DomainStartEndE-ValueType
coiled coil region 96 210 N/A INTRINSIC
coiled coil region 278 299 N/A INTRINSIC
low complexity region 319 335 N/A INTRINSIC
low complexity region 528 544 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191492
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 12,021,188 (GRCm39) D383V probably damaging Het
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Abca4 A T 3: 121,847,881 (GRCm39) L67F probably damaging Het
Abcc9 C A 6: 142,602,402 (GRCm39) probably null Het
Atp2a3 T C 11: 72,863,708 (GRCm39) V175A probably damaging Het
B3galt4 T A 17: 34,169,731 (GRCm39) D169V probably damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Camkk2 T C 5: 122,872,307 (GRCm39) E90G probably damaging Het
Cdon T A 9: 35,365,716 (GRCm39) I155N probably damaging Het
Clgn T C 8: 84,152,243 (GRCm39) S582P probably damaging Het
Cnga3 T C 1: 37,300,006 (GRCm39) F280S probably damaging Het
Dennd4c C T 4: 86,729,690 (GRCm39) T764M probably benign Het
Dis3 A T 14: 99,337,100 (GRCm39) S4T probably damaging Het
Dlgap1 T C 17: 71,073,086 (GRCm39) probably null Het
Dnah17 C T 11: 117,927,272 (GRCm39) V3839I possibly damaging Het
Dnajc1 A G 2: 18,289,550 (GRCm39) Y286H probably benign Het
Dynap T A 18: 70,374,073 (GRCm39) D151V unknown Het
Ednrb A G 14: 104,059,150 (GRCm39) F292S probably damaging Het
Eef1a1 A G 9: 78,386,318 (GRCm39) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm39) F324S probably benign Het
Fbxw11 T A 11: 32,661,790 (GRCm39) S56T probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm39) V209L probably benign Homo
Gm5592 C T 7: 40,868,529 (GRCm39) probably benign Het
Gpr137 C T 19: 6,919,373 (GRCm39) W51* probably null Het
H2-T9 A G 17: 36,422,179 (GRCm39) probably benign Het
Hbb-bs T C 7: 103,475,879 (GRCm39) Y146C probably damaging Het
Herc1 G T 9: 66,370,160 (GRCm39) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,495,400 (GRCm39) N309K unknown Het
Hydin A T 8: 111,178,692 (GRCm39) I1096F possibly damaging Het
Klf12 A G 14: 100,260,330 (GRCm39) V133A probably benign Het
Lats2 A T 14: 57,931,875 (GRCm39) Y848N probably damaging Het
Loxl3 A G 6: 83,026,270 (GRCm39) T453A possibly damaging Het
Ltn1 T G 16: 87,212,569 (GRCm39) H664P probably benign Het
Lypd6 C T 2: 50,063,613 (GRCm39) T40I probably benign Het
Nbeal1 A T 1: 60,311,380 (GRCm39) T1817S probably benign Het
Nub1 A C 5: 24,907,439 (GRCm39) Y350S possibly damaging Het
Pbp2 A G 6: 135,286,874 (GRCm39) Y158H possibly damaging Het
Ptpru C T 4: 131,515,688 (GRCm39) E827K possibly damaging Het
Rap1a A G 3: 105,653,252 (GRCm39) Y32H probably damaging Het
Raph1 T C 1: 60,527,832 (GRCm39) N1143S possibly damaging Het
Rbl1 T C 2: 157,003,353 (GRCm39) T859A probably benign Het
Rom1 A G 19: 8,906,188 (GRCm39) L117P probably damaging Het
Senp6 T C 9: 80,025,926 (GRCm39) probably benign Het
Sirpb1c T C 3: 15,886,240 (GRCm39) M379V probably benign Het
Slc6a4 C T 11: 76,910,062 (GRCm39) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm39) R141L probably damaging Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Tcstv2c G A 13: 120,616,449 (GRCm39) S96N possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tgds T C 14: 118,370,119 (GRCm39) E8G probably benign Het
Tmem129 A G 5: 33,815,060 (GRCm39) S38P probably damaging Het
Trappc9 T C 15: 72,557,188 (GRCm39) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm39) probably benign Het
Wapl A G 14: 34,414,277 (GRCm39) T380A probably damaging Het
Xylt1 A T 7: 117,255,914 (GRCm39) T829S probably benign Het
Zc3h6 C T 2: 128,857,479 (GRCm39) P666L possibly damaging Het
Zfp1010 T C 2: 176,957,049 (GRCm39) T150A possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Cep70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01445:Cep70 APN 9 99,180,553 (GRCm39) unclassified probably benign
IGL02719:Cep70 APN 9 99,157,775 (GRCm39) missense probably damaging 0.99
IGL02878:Cep70 APN 9 99,163,160 (GRCm39) splice site probably benign
IGL02969:Cep70 APN 9 99,180,557 (GRCm39) missense possibly damaging 0.88
R0426:Cep70 UTSW 9 99,179,737 (GRCm39) missense probably benign 0.02
R0970:Cep70 UTSW 9 99,157,652 (GRCm39) missense possibly damaging 0.93
R1238:Cep70 UTSW 9 99,136,318 (GRCm39) missense probably benign 0.05
R1462:Cep70 UTSW 9 99,145,773 (GRCm39) missense probably benign 0.20
R1462:Cep70 UTSW 9 99,145,773 (GRCm39) missense probably benign 0.20
R2141:Cep70 UTSW 9 99,178,438 (GRCm39) missense probably damaging 1.00
R3922:Cep70 UTSW 9 99,157,632 (GRCm39) makesense probably null
R3964:Cep70 UTSW 9 99,180,587 (GRCm39) missense probably damaging 1.00
R3965:Cep70 UTSW 9 99,180,587 (GRCm39) missense probably damaging 1.00
R4044:Cep70 UTSW 9 99,144,662 (GRCm39) missense possibly damaging 0.66
R4174:Cep70 UTSW 9 99,128,366 (GRCm39) start gained probably benign
R4659:Cep70 UTSW 9 99,178,394 (GRCm39) missense possibly damaging 0.86
R4672:Cep70 UTSW 9 99,136,365 (GRCm39) missense possibly damaging 0.66
R4839:Cep70 UTSW 9 99,178,138 (GRCm39) missense probably benign 0.16
R5108:Cep70 UTSW 9 99,145,865 (GRCm39) splice site probably null
R5288:Cep70 UTSW 9 99,163,128 (GRCm39) missense probably damaging 1.00
R5386:Cep70 UTSW 9 99,163,128 (GRCm39) missense probably damaging 1.00
R5934:Cep70 UTSW 9 99,136,318 (GRCm39) missense probably benign 0.05
R6076:Cep70 UTSW 9 99,180,558 (GRCm39) missense probably damaging 1.00
R6848:Cep70 UTSW 9 99,144,954 (GRCm39) missense probably benign 0.34
R6977:Cep70 UTSW 9 99,173,729 (GRCm39) missense probably damaging 1.00
R7286:Cep70 UTSW 9 99,157,638 (GRCm39) missense probably damaging 1.00
R7437:Cep70 UTSW 9 99,173,582 (GRCm39) missense probably damaging 1.00
R7754:Cep70 UTSW 9 99,163,145 (GRCm39) missense probably damaging 1.00
R7879:Cep70 UTSW 9 99,144,686 (GRCm39) missense possibly damaging 0.54
R8063:Cep70 UTSW 9 99,178,175 (GRCm39) missense probably benign 0.02
R8299:Cep70 UTSW 9 99,144,914 (GRCm39) missense possibly damaging 0.95
R8466:Cep70 UTSW 9 99,160,073 (GRCm39) critical splice donor site probably null
R8684:Cep70 UTSW 9 99,145,842 (GRCm39) missense possibly damaging 0.93
R9017:Cep70 UTSW 9 99,181,829 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- ACCAGAAAGAGGTAACGTTTGATAC -3'
(R):5'- TGAGAACAAGGCAACATTGTC -3'

Sequencing Primer
(F):5'- CGCCGAACTCTCAAACTT -3'
(R):5'- GGCAACATTGTCACCAAACC -3'
Posted On 2016-12-15