Incidental Mutation 'R0587:Cep76'
ID 55825
Institutional Source Beutler Lab
Gene Symbol Cep76
Ensembl Gene ENSMUSG00000073542
Gene Name centrosomal protein 76
Synonyms 6230425F05Rik
MMRRC Submission 038777-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0587 (G1)
Quality Score 198
Status Validated
Chromosome 18
Chromosomal Location 67750870-67774406 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 67756245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 529 (E529*)
Ref Sequence ENSEMBL: ENSMUSP00000095149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097542]
AlphaFold Q0VEJ0
Predicted Effect probably null
Transcript: ENSMUST00000097542
AA Change: E529*
SMART Domains Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542
AA Change: E529*

DomainStartEndE-ValueType
Pfam:CEP76-C2 99 258 4.1e-64 PFAM
low complexity region 383 393 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
Blast:KIND 604 654 2e-27 BLAST
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 94% (34/36)
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 regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik T C 17: 36,203,855 (GRCm39) *212W probably null Het
Abca1 A G 4: 53,107,035 (GRCm39) Y231H probably benign Het
Abca5 T G 11: 110,202,203 (GRCm39) I401L probably benign Het
Ak2 A G 4: 128,896,171 (GRCm39) D112G probably damaging Het
Ankrd60 T A 2: 173,410,644 (GRCm39) D292V possibly damaging Het
Bank1 A G 3: 135,919,798 (GRCm39) probably benign Het
Bod1l G A 5: 41,978,980 (GRCm39) S778L probably benign Het
Col24a1 T C 3: 144,998,906 (GRCm39) V13A possibly damaging Het
Ctsc T A 7: 87,946,437 (GRCm39) H154Q probably benign Het
Ctsf A G 19: 4,905,766 (GRCm39) E87G probably benign Het
Dmxl1 A T 18: 50,068,374 (GRCm39) T2716S probably benign Het
Espl1 A G 15: 102,212,382 (GRCm39) probably benign Het
Fcsk T A 8: 111,609,957 (GRCm39) Q1019L probably damaging Het
Hnrnpul1 T A 7: 25,444,657 (GRCm39) Y217F possibly damaging Het
Kmt2a A T 9: 44,758,831 (GRCm39) M1039K probably damaging Het
Large1 T C 8: 73,585,961 (GRCm39) N382D probably damaging Het
Madd A G 2: 90,977,230 (GRCm39) V1402A probably damaging Het
Mlh3 C T 12: 85,313,193 (GRCm39) V998M probably benign Het
Myo1c A G 11: 75,548,616 (GRCm39) Y71C probably damaging Het
Myt1l G A 12: 29,861,634 (GRCm39) D139N unknown Het
Nes C A 3: 87,885,876 (GRCm39) H1378Q probably benign Het
Or4c12 T C 2: 89,773,736 (GRCm39) H241R probably damaging Het
Otud6b T C 4: 14,815,661 (GRCm39) E243G probably benign Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Pcm1 G T 8: 41,739,088 (GRCm39) R912L probably damaging Het
Piezo2 A G 18: 63,155,497 (GRCm39) I2449T possibly damaging Het
Slc12a5 G A 2: 164,818,453 (GRCm39) M217I probably damaging Het
Sorl1 C A 9: 41,895,802 (GRCm39) W1784C probably damaging Het
Spatc1l A G 10: 76,400,011 (GRCm39) R178G possibly damaging Het
Strada A C 11: 106,061,790 (GRCm39) Y154D probably damaging Het
Syt6 A G 3: 103,532,887 (GRCm39) T424A probably damaging Het
Tbx1 C T 16: 18,402,243 (GRCm39) A245T possibly damaging Het
Tmem143 T C 7: 45,556,478 (GRCm39) L161P probably damaging Het
Other mutations in Cep76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Cep76 APN 18 67,773,187 (GRCm39) missense probably benign 0.01
IGL01344:Cep76 APN 18 67,756,467 (GRCm39) missense possibly damaging 0.95
IGL02426:Cep76 APN 18 67,767,987 (GRCm39) missense probably benign
IGL02544:Cep76 APN 18 67,768,020 (GRCm39) splice site probably benign
IGL02711:Cep76 APN 18 67,771,406 (GRCm39) missense probably benign
IGL03283:Cep76 APN 18 67,773,139 (GRCm39) missense possibly damaging 0.76
R0117:Cep76 UTSW 18 67,759,744 (GRCm39) missense possibly damaging 0.91
R0450:Cep76 UTSW 18 67,767,850 (GRCm39) missense probably benign 0.30
R0469:Cep76 UTSW 18 67,767,850 (GRCm39) missense probably benign 0.30
R0658:Cep76 UTSW 18 67,756,374 (GRCm39) missense probably damaging 1.00
R0667:Cep76 UTSW 18 67,767,848 (GRCm39) missense possibly damaging 0.85
R1508:Cep76 UTSW 18 67,756,358 (GRCm39) missense probably damaging 1.00
R1511:Cep76 UTSW 18 67,758,028 (GRCm39) missense probably benign
R4280:Cep76 UTSW 18 67,773,229 (GRCm39) missense probably benign 0.39
R4355:Cep76 UTSW 18 67,759,710 (GRCm39) missense probably benign 0.02
R4702:Cep76 UTSW 18 67,767,968 (GRCm39) missense possibly damaging 0.48
R4847:Cep76 UTSW 18 67,752,639 (GRCm39) missense probably benign 0.04
R5650:Cep76 UTSW 18 67,758,136 (GRCm39) missense probably damaging 1.00
R5897:Cep76 UTSW 18 67,771,398 (GRCm39) missense probably benign 0.00
R6648:Cep76 UTSW 18 67,752,804 (GRCm39) missense probably benign 0.27
R7193:Cep76 UTSW 18 67,774,204 (GRCm39) missense possibly damaging 0.70
R7822:Cep76 UTSW 18 67,774,219 (GRCm39) nonsense probably null
R7846:Cep76 UTSW 18 67,762,975 (GRCm39) missense probably damaging 1.00
R8870:Cep76 UTSW 18 67,773,190 (GRCm39) missense probably benign 0.02
R8883:Cep76 UTSW 18 67,766,540 (GRCm39) missense probably benign 0.02
R9025:Cep76 UTSW 18 67,767,885 (GRCm39) missense probably damaging 1.00
R9221:Cep76 UTSW 18 67,767,977 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCTCACAACTGTCTCATGGCTTC -3'
(R):5'- TGTCAGCCCTCAGATGCAGTAGAG -3'

Sequencing Primer
(F):5'- cccaggttcagttcccag -3'
(R):5'- GCAGTAGAGACCTGCATATTTG -3'
Posted On 2013-07-11