Incidental Mutation 'IGL01804:Cetn3'
ID155617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cetn3
Ensembl Gene ENSMUSG00000021537
Gene Namecentrin 3
SynonymsMmCEN3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.603) question?
Stock #IGL01804
Quality Score
Status
Chromosome13
Chromosomal Location81783077-81797155 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 81784660 bp
ZygosityHeterozygous
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]
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: 71,276,183 N1860D probably benign Het
Abca2 T A 2: 25,446,625 C2248S probably damaging Het
Adamts16 G A 13: 70,800,961 Q194* probably null Het
Cldn18 T A 9: 99,698,848 K116* probably null Het
Cntn5 T A 9: 9,831,537 I613F probably damaging Het
Cyp46a1 A G 12: 108,355,486 I324V probably benign Het
Ddb1 A C 19: 10,613,018 E303A probably damaging Het
Dnajc2 A G 5: 21,757,363 V539A probably damaging Het
Dock2 T A 11: 34,262,433 Y1236F probably benign Het
Dpf1 T A 7: 29,316,501 C383S probably damaging Het
Edc4 T A 8: 105,890,657 I1052N possibly damaging Het
Ehmt1 A G 2: 24,791,954 L1243P probably damaging Het
Exoc6b A G 6: 84,908,166 S264P probably damaging Het
Gbx2 T C 1: 89,928,981 E229G probably benign Het
Hip1r T A 5: 124,001,550 probably null Het
Lig1 A G 7: 13,309,206 K859E probably benign Het
Ly6g6f T C 17: 35,081,170 D234G possibly damaging Het
Mmp11 G T 10: 75,928,470 L54I probably benign Het
Naip5 A T 13: 100,221,584 L1048Q probably damaging Het
Olfr1228 C A 2: 89,249,222 M157I probably benign Het
Olfr146 T C 9: 39,019,401 I47V probably benign Het
Olfr427 A G 1: 174,099,835 I126V probably damaging Het
Olfr834 T A 9: 18,988,840 M284K probably benign Het
Pappa2 T C 1: 158,936,519 D474G probably benign Het
Plxna1 A G 6: 89,329,646 Y1401H probably damaging Het
Prrg4 T A 2: 104,832,690 E190D probably damaging Het
Rnf213 T C 11: 119,442,266 F2767S probably damaging Het
Scgb1b2 T A 7: 31,291,730 probably benign Het
Sec31a A G 5: 100,375,206 probably null Het
Slc12a4 A G 8: 105,944,401 S1014P probably damaging Het
Spns2 A T 11: 72,457,304 I279N possibly damaging Het
Spta1 A T 1: 174,244,180 H2242L probably benign Het
Tcaf3 T A 6: 42,597,129 I50F probably damaging Het
Tnfaip8l1 G A 17: 56,172,214 S168N probably benign Het
Trak1 C T 9: 121,442,685 probably benign Het
Trpv4 A T 5: 114,644,786 N38K possibly damaging Het
Ube2o T C 11: 116,544,373 T530A probably benign Het
Vmn2r2 A G 3: 64,134,256 V346A possibly damaging Het
Vmn2r86 A C 10: 130,452,989 D214E probably damaging Het
Wwc1 C A 11: 35,841,924 D986Y probably damaging Het
Xdh T C 17: 73,892,759 D1184G probably damaging Het
Other mutations in Cetn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1982:Cetn3 UTSW 13 81784697 missense probably damaging 1.00
R4879:Cetn3 UTSW 13 81792149 unclassified probably benign
R6169:Cetn3 UTSW 13 81791978 missense probably damaging 1.00
R6452:Cetn3 UTSW 13 81784678 nonsense probably null
Posted On2014-02-04