Incidental Mutation 'R1140:Cep83'
ID 102047
Institutional Source Beutler Lab
Gene Symbol Cep83
Ensembl Gene ENSMUSG00000020024
Gene Name centrosomal protein 83
Synonyms Ccdc41, 5730513H21Rik, 4921537D05Rik, 2600001G24Rik
MMRRC Submission 039213-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1140 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 94524476-94626201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94573752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 214 (K214E)
Ref Sequence ENSEMBL: ENSMUSP00000020212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020212]
AlphaFold Q9D5R3
Predicted Effect probably damaging
Transcript: ENSMUST00000020212
AA Change: K214E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: K214E

DomainStartEndE-ValueType
coiled coil region 31 100 N/A INTRINSIC
coiled coil region 121 602 N/A INTRINSIC
coiled coil region 656 689 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220052
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik T A 8: 120,876,874 (GRCm39) S161T probably damaging Het
Ahnak T A 19: 8,981,609 (GRCm39) D964E probably damaging Het
Aldh18a1 T C 19: 40,562,729 (GRCm39) I215V probably benign Het
Arfgef3 T A 10: 18,473,096 (GRCm39) I1656F possibly damaging Het
Aurka T C 2: 172,199,149 (GRCm39) D285G probably damaging Het
Dis3l2 A T 1: 86,749,160 (GRCm39) T209S probably benign Het
Dock7 A G 4: 98,953,643 (GRCm39) M363T possibly damaging Het
Dsc2 C A 18: 20,165,269 (GRCm39) K901N probably damaging Het
Fam234b A T 6: 135,202,756 (GRCm39) H370L probably benign Het
Fanca A C 8: 124,039,868 (GRCm39) probably null Het
Fastkd5 C T 2: 130,458,135 (GRCm39) V152I probably benign Het
Fndc1 T C 17: 7,994,258 (GRCm39) R337G unknown Het
Fsip2 T A 2: 82,805,378 (GRCm39) Y566N probably damaging Het
Gsc A T 12: 104,439,361 (GRCm39) M5K probably damaging Het
Muc5b A G 7: 141,412,733 (GRCm39) E1893G unknown Het
Myh7 T C 14: 55,210,339 (GRCm39) T1789A probably damaging Het
Npr2 A G 4: 43,648,353 (GRCm39) T884A possibly damaging Het
Or1e29 T A 11: 73,667,680 (GRCm39) M158L probably benign Het
Parg T C 14: 32,018,200 (GRCm39) S432P probably benign Het
Ptdss1 T C 13: 67,111,420 (GRCm39) V162A probably benign Het
Samsn1 C T 16: 75,685,630 (GRCm39) E43K possibly damaging Het
Sis C T 3: 72,858,949 (GRCm39) V361I probably damaging Het
Speg A T 1: 75,405,739 (GRCm39) N2981I probably damaging Het
Stk32c C T 7: 138,705,095 (GRCm39) R23Q probably damaging Het
Taok3 T C 5: 117,366,118 (GRCm39) S231P possibly damaging Het
Tbc1d2b A G 9: 90,108,429 (GRCm39) V374A possibly damaging Het
Xxylt1 T A 16: 30,826,666 (GRCm39) probably null Het
Other mutations in Cep83
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Cep83 APN 10 94,625,626 (GRCm39) missense possibly damaging 0.77
IGL00912:Cep83 APN 10 94,573,728 (GRCm39) nonsense probably null
IGL01141:Cep83 APN 10 94,624,619 (GRCm39) missense probably benign 0.39
R0358:Cep83 UTSW 10 94,555,593 (GRCm39) missense probably benign
R0530:Cep83 UTSW 10 94,555,450 (GRCm39) splice site probably benign
R0579:Cep83 UTSW 10 94,584,915 (GRCm39) missense possibly damaging 0.58
R1573:Cep83 UTSW 10 94,624,525 (GRCm39) missense probably damaging 1.00
R1756:Cep83 UTSW 10 94,586,129 (GRCm39) missense probably damaging 1.00
R3121:Cep83 UTSW 10 94,622,700 (GRCm39) missense probably damaging 1.00
R3684:Cep83 UTSW 10 94,622,687 (GRCm39) missense probably benign 0.01
R5115:Cep83 UTSW 10 94,604,751 (GRCm39) missense probably benign
R5325:Cep83 UTSW 10 94,573,768 (GRCm39) missense probably damaging 0.98
R5439:Cep83 UTSW 10 94,625,600 (GRCm39) missense probably benign 0.03
R5782:Cep83 UTSW 10 94,584,894 (GRCm39) missense probably damaging 1.00
R5891:Cep83 UTSW 10 94,561,537 (GRCm39) missense probably benign 0.12
R7229:Cep83 UTSW 10 94,555,527 (GRCm39) missense probably damaging 1.00
R7632:Cep83 UTSW 10 94,586,502 (GRCm39) missense probably damaging 1.00
R7953:Cep83 UTSW 10 94,573,804 (GRCm39) missense probably damaging 0.99
R8043:Cep83 UTSW 10 94,573,804 (GRCm39) missense probably damaging 0.99
R8167:Cep83 UTSW 10 94,564,579 (GRCm39) missense possibly damaging 0.56
R8171:Cep83 UTSW 10 94,604,797 (GRCm39) missense possibly damaging 0.83
R8409:Cep83 UTSW 10 94,573,839 (GRCm39) nonsense probably null
R9079:Cep83 UTSW 10 94,564,541 (GRCm39) missense possibly damaging 0.62
R9195:Cep83 UTSW 10 94,604,801 (GRCm39) missense possibly damaging 0.90
R9522:Cep83 UTSW 10 94,586,184 (GRCm39) missense probably damaging 1.00
R9604:Cep83 UTSW 10 94,554,939 (GRCm39) missense possibly damaging 0.90
Predicted Primers
Posted On 2014-01-15