Incidental Mutation 'IGL01804:Cetn3'
ID 155617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cetn3
Ensembl Gene ENSMUSG00000021537
Gene Name centrin 3
Synonyms MmCEN3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # IGL01804
Quality Score
Status
Chromosome 13
Chromosomal Location 81931196-81945274 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 81932779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 13 (K13*)
Ref Sequence ENSEMBL: ENSMUSP00000022009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022009] [ENSMUST00000223793] [ENSMUST00000224433] [ENSMUST00000224574] [ENSMUST00000226007]
AlphaFold O35648
Predicted Effect probably null
Transcript: ENSMUST00000022009
AA Change: K13*
SMART Domains Protein: ENSMUSP00000022009
Gene: ENSMUSG00000021537
AA Change: K13*

DomainStartEndE-ValueType
EFh 29 57 3.82e-7 SMART
EFh 65 93 1.87e0 SMART
EFh 102 130 2.33e-2 SMART
EFh 138 166 1.26e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181520
Predicted Effect probably benign
Transcript: ENSMUST00000223793
Predicted Effect probably benign
Transcript: ENSMUST00000224433
Predicted Effect probably benign
Transcript: ENSMUST00000224574
Predicted Effect probably benign
Transcript: ENSMUST00000224705
Predicted Effect probably benign
Transcript: ENSMUST00000226007
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 contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,315,342 (GRCm39) N1860D probably benign Het
Abca2 T A 2: 25,336,637 (GRCm39) C2248S probably damaging Het
Adamts16 G A 13: 70,949,080 (GRCm39) Q194* probably null Het
Cldn18 T A 9: 99,580,901 (GRCm39) K116* probably null Het
Cntn5 T A 9: 9,831,542 (GRCm39) I613F probably damaging Het
Cyp46a1 A G 12: 108,321,745 (GRCm39) I324V probably benign Het
Ddb1 A C 19: 10,590,382 (GRCm39) E303A probably damaging Het
Dnajc2 A G 5: 21,962,361 (GRCm39) V539A probably damaging Het
Dock2 T A 11: 34,212,433 (GRCm39) Y1236F probably benign Het
Dpf1 T A 7: 29,015,926 (GRCm39) C383S probably damaging Het
Edc4 T A 8: 106,617,289 (GRCm39) I1052N possibly damaging Het
Ehmt1 A G 2: 24,681,966 (GRCm39) L1243P probably damaging Het
Exoc6b A G 6: 84,885,148 (GRCm39) S264P probably damaging Het
Gbx2 T C 1: 89,856,703 (GRCm39) E229G probably benign Het
Hip1r T A 5: 124,139,613 (GRCm39) probably null Het
Lig1 A G 7: 13,043,131 (GRCm39) K859E probably benign Het
Ly6g6f T C 17: 35,300,146 (GRCm39) D234G possibly damaging Het
Mmp11 G T 10: 75,764,304 (GRCm39) L54I probably benign Het
Naip5 A T 13: 100,358,092 (GRCm39) L1048Q probably damaging Het
Or4c122 C A 2: 89,079,566 (GRCm39) M157I probably benign Het
Or6k14 A G 1: 173,927,401 (GRCm39) I126V probably damaging Het
Or7g12 T A 9: 18,900,136 (GRCm39) M284K probably benign Het
Or8g17 T C 9: 38,930,697 (GRCm39) I47V probably benign Het
Pappa2 T C 1: 158,764,089 (GRCm39) D474G probably benign Het
Plxna1 A G 6: 89,306,628 (GRCm39) Y1401H probably damaging Het
Prrg4 T A 2: 104,663,035 (GRCm39) E190D probably damaging Het
Rnf213 T C 11: 119,333,092 (GRCm39) F2767S probably damaging Het
Scgb1b2 T A 7: 30,991,155 (GRCm39) probably benign Het
Sec31a A G 5: 100,523,065 (GRCm39) probably null Het
Slc12a4 A G 8: 106,671,033 (GRCm39) S1014P probably damaging Het
Spns2 A T 11: 72,348,130 (GRCm39) I279N possibly damaging Het
Spta1 A T 1: 174,071,746 (GRCm39) H2242L probably benign Het
Tcaf3 T A 6: 42,574,063 (GRCm39) I50F probably damaging Het
Tnfaip8l1 G A 17: 56,479,214 (GRCm39) S168N probably benign Het
Trak1 C T 9: 121,271,751 (GRCm39) probably benign Het
Trpv4 A T 5: 114,782,847 (GRCm39) N38K possibly damaging Het
Ube2o T C 11: 116,435,199 (GRCm39) T530A probably benign Het
Vmn2r2 A G 3: 64,041,677 (GRCm39) V346A possibly damaging Het
Vmn2r86 A C 10: 130,288,858 (GRCm39) D214E probably damaging Het
Wwc1 C A 11: 35,732,751 (GRCm39) D986Y probably damaging Het
Xdh T C 17: 74,199,754 (GRCm39) D1184G probably damaging Het
Other mutations in Cetn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1982:Cetn3 UTSW 13 81,932,816 (GRCm39) missense probably damaging 1.00
R4879:Cetn3 UTSW 13 81,940,268 (GRCm39) unclassified probably benign
R6169:Cetn3 UTSW 13 81,940,097 (GRCm39) missense probably damaging 1.00
R6452:Cetn3 UTSW 13 81,932,797 (GRCm39) nonsense probably null
Posted On 2014-02-04