Incidental Mutation 'IGL01141:Cep83'
ID52158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep83
Ensembl Gene ENSMUSG00000020024
Gene Namecentrosomal protein 83
Synonyms4921537D05Rik, Ccdc41, 5730513H21Rik, 2600001G24Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01141
Quality Score
Status
Chromosome10
Chromosomal Location94688654-94790853 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 94788757 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 632 (T632K)
Ref Sequence ENSEMBL: ENSMUSP00000020212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020212] [ENSMUST00000099337]
Predicted Effect probably benign
Transcript: ENSMUST00000020212
AA Change: T632K

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: T632K

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 probably benign
Transcript: ENSMUST00000099337
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:Sema 87 431 5.5e-10 PFAM
PSI 454 507 5.28e-12 SMART
PSI 590 634 1.07e-3 SMART
Pfam:TIG 665 752 3.7e-9 PFAM
IPT 755 847 5.14e-7 SMART
IPT 849 954 1.8e-2 SMART
low complexity region 978 997 N/A INTRINSIC
Pfam:Plexin_cytopl 1018 1541 1.4e-199 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218201
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,937,730 D1447E probably damaging Het
Atp2a3 T C 11: 72,982,665 I788T probably damaging Het
Axin1 G A 17: 26,190,041 E672K probably damaging Het
Ccno A G 13: 112,989,027 D175G probably damaging Het
Ckmt1 A T 2: 121,362,993 I345F probably benign Het
Cntnap1 G A 11: 101,178,807 probably benign Het
Edem2 A G 2: 155,709,028 Y340H probably benign Het
Erich3 A G 3: 154,714,016 K249R probably benign Het
Fndc9 T C 11: 46,237,699 I15T probably benign Het
Gm4758 A G 16: 36,308,064 E7G probably benign Het
Grip2 G T 6: 91,782,897 Q300K probably benign Het
Herc2 T C 7: 56,212,841 V4050A possibly damaging Het
Jup A T 11: 100,386,249 D44E probably benign Het
Lingo3 G T 10: 80,835,313 P261Q probably damaging Het
Lrrfip2 C T 9: 111,219,715 R311W probably damaging Het
Mansc1 C A 6: 134,621,785 L56F probably benign Het
Map1b A G 13: 99,434,761 I484T probably damaging Het
Mpeg1 T A 19: 12,462,785 F536I probably damaging Het
Mrgprb1 T G 7: 48,448,027 T46P probably benign Het
Mug1 A G 6: 121,870,499 N612S probably benign Het
Olfr477 T C 7: 107,990,551 F62S probably damaging Het
Olfr805 T A 10: 129,722,945 I200L probably benign Het
Pax8 A G 2: 24,441,150 S178P probably damaging Het
Peak1 A G 9: 56,258,527 F706L probably benign Het
Prkdc A G 16: 15,726,704 T1853A probably damaging Het
Reln A C 5: 21,969,033 F2024C probably damaging Het
Reln G T 5: 21,919,069 P2813Q probably damaging Het
Riox1 A G 12: 83,951,794 Q368R probably damaging Het
Rspry1 T C 8: 94,649,855 V335A probably benign Het
Scn3a T C 2: 65,495,113 N1020S possibly damaging Het
Scyl2 A G 10: 89,640,635 V876A probably benign Het
Sdhaf3 T A 6: 6,956,141 F39I probably damaging Het
Sfxn4 T C 19: 60,851,014 E202G possibly damaging Het
Slc1a4 A T 11: 20,308,644 probably benign Het
Sln A G 9: 53,853,500 I10V probably benign Het
Ssh2 A G 11: 77,449,726 E568G probably damaging Het
Supt7l G A 5: 31,518,435 P270S probably benign Het
Tanc2 A G 11: 105,886,474 probably benign Het
Tatdn1 A T 15: 58,909,567 probably benign Het
Tfip11 C T 5: 112,329,503 P117L possibly damaging Het
Vpreb1 T C 16: 16,869,087 M9V probably benign Het
Other mutations in Cep83
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Cep83 APN 10 94789764 missense possibly damaging 0.77
IGL00912:Cep83 APN 10 94737866 nonsense probably null
R0358:Cep83 UTSW 10 94719731 missense probably benign
R0530:Cep83 UTSW 10 94719588 splice site probably benign
R0579:Cep83 UTSW 10 94749053 missense possibly damaging 0.58
R1140:Cep83 UTSW 10 94737890 missense probably damaging 1.00
R1573:Cep83 UTSW 10 94788663 missense probably damaging 1.00
R1756:Cep83 UTSW 10 94750267 missense probably damaging 1.00
R3121:Cep83 UTSW 10 94786838 missense probably damaging 1.00
R3684:Cep83 UTSW 10 94786825 missense probably benign 0.01
R5115:Cep83 UTSW 10 94768889 missense probably benign
R5325:Cep83 UTSW 10 94737906 missense probably damaging 0.98
R5439:Cep83 UTSW 10 94789738 missense probably benign 0.03
R5782:Cep83 UTSW 10 94749032 missense probably damaging 1.00
R5891:Cep83 UTSW 10 94725675 missense probably benign 0.12
R7229:Cep83 UTSW 10 94719665 missense probably damaging 1.00
R7632:Cep83 UTSW 10 94750640 missense probably damaging 1.00
R8043:Cep83 UTSW 10 94737942 missense probably damaging 0.99
R8167:Cep83 UTSW 10 94728717 missense possibly damaging 0.56
R8171:Cep83 UTSW 10 94768935 missense possibly damaging 0.83
Posted On2013-06-21