Incidental Mutation 'R4117:Cenpt'
ID 315136
Institutional Source Beutler Lab
Gene Symbol Cenpt
Ensembl Gene ENSMUSG00000036672
Gene Name centromere protein T
Synonyms G630055P03Rik
MMRRC Submission 040991-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4117 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106571305-106579910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106576332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 73 (S73L)
Ref Sequence ENSEMBL: ENSMUSP00000038188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040776] [ENSMUST00000212431] [ENSMUST00000212552] [ENSMUST00000212839]
AlphaFold Q3TJM4
Predicted Effect probably benign
Transcript: ENSMUST00000040776
AA Change: S73L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038188
Gene: ENSMUSG00000036672
AA Change: S73L

DomainStartEndE-ValueType
Pfam:CENP-T_N 1 374 4.2e-174 PFAM
Pfam:CENP-T_C 404 507 5.4e-36 PFAM
Pfam:CENP-S 424 479 3e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212357
Predicted Effect probably benign
Transcript: ENSMUST00000212431
Predicted Effect probably benign
Transcript: ENSMUST00000212552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212803
Predicted Effect probably benign
Transcript: ENSMUST00000212839
Meta Mutation Damage Score 0.0725 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (31/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T C 2: 155,398,313 (GRCm39) F358L probably damaging Het
Adamts16 A G 13: 70,916,111 (GRCm39) Y775H probably benign Het
Bard1 A T 1: 71,085,922 (GRCm39) H594Q probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Ctdnep1 C A 11: 69,879,497 (GRCm39) A7D probably damaging Het
Fam210b T C 2: 172,193,486 (GRCm39) S100P probably benign Het
Fyb1 A C 15: 6,659,597 (GRCm39) D434A probably damaging Het
H2-T15 T C 17: 36,368,496 (GRCm39) D144G probably damaging Het
Heph T C X: 95,544,221 (GRCm39) V615A probably benign Het
Icam5 T A 9: 20,948,886 (GRCm39) V746E probably damaging Het
Maml2 A G 9: 13,617,230 (GRCm39) Q192R probably damaging Het
Npas4 T C 19: 5,037,391 (GRCm39) Y301C probably damaging Het
Nup205 C T 6: 35,217,947 (GRCm39) Q1767* probably null Het
Or51f5 T A 7: 102,423,684 (GRCm39) probably null Het
Pigg A G 5: 108,495,908 (GRCm39) R982G probably benign Het
Plekhg2 A T 7: 28,060,313 (GRCm39) H1005Q probably benign Het
Rdh12 C T 12: 79,260,419 (GRCm39) R172C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Semp2l2b T A 10: 21,943,615 (GRCm39) N122Y probably benign Het
Septin4 T C 11: 87,459,108 (GRCm39) F494S probably damaging Het
Serpinb9 T A 13: 33,199,579 (GRCm39) D291E probably benign Het
She A T 3: 89,759,679 (GRCm39) Y394F probably damaging Het
Sipa1l2 T C 8: 126,195,249 (GRCm39) S830G probably damaging Het
Stmn4 T C 14: 66,598,581 (GRCm39) *217Q probably null Het
Stx17 A G 4: 48,180,689 (GRCm39) D178G probably damaging Het
Tbc1d9 T G 8: 83,992,776 (GRCm39) I960S possibly damaging Het
Ubxn10 G T 4: 138,448,276 (GRCm39) D133E probably benign Het
Vmn2r42 T C 7: 8,197,839 (GRCm39) Y260C probably damaging Het
Vmn2r7 A C 3: 64,623,138 (GRCm39) probably benign Het
Zfp143 C T 7: 109,691,120 (GRCm39) T557I probably damaging Het
Zfp607b A G 7: 27,398,107 (GRCm39) I64V probably damaging Het
Other mutations in Cenpt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Cenpt APN 8 106,573,297 (GRCm39) missense possibly damaging 0.52
IGL01970:Cenpt APN 8 106,571,748 (GRCm39) missense probably damaging 1.00
IGL03141:Cenpt APN 8 106,578,573 (GRCm39) missense probably damaging 0.99
IGL03403:Cenpt APN 8 106,576,297 (GRCm39) nonsense probably null
gold_medal UTSW 8 106,575,646 (GRCm39) missense possibly damaging 0.95
R0089:Cenpt UTSW 8 106,573,000 (GRCm39) missense probably benign 0.00
R0508:Cenpt UTSW 8 106,576,147 (GRCm39) missense possibly damaging 0.81
R0648:Cenpt UTSW 8 106,571,592 (GRCm39) missense probably damaging 0.99
R1460:Cenpt UTSW 8 106,575,520 (GRCm39) missense probably damaging 1.00
R1839:Cenpt UTSW 8 106,575,646 (GRCm39) missense possibly damaging 0.95
R4732:Cenpt UTSW 8 106,573,768 (GRCm39) missense probably benign 0.00
R4733:Cenpt UTSW 8 106,573,768 (GRCm39) missense probably benign 0.00
R6246:Cenpt UTSW 8 106,575,891 (GRCm39) missense possibly damaging 0.95
R6413:Cenpt UTSW 8 106,572,973 (GRCm39) missense possibly damaging 0.64
R6582:Cenpt UTSW 8 106,575,833 (GRCm39) nonsense probably null
R7299:Cenpt UTSW 8 106,576,536 (GRCm39) nonsense probably null
R9057:Cenpt UTSW 8 106,576,405 (GRCm39) makesense probably null
R9232:Cenpt UTSW 8 106,571,793 (GRCm39) missense probably damaging 0.99
R9442:Cenpt UTSW 8 106,575,418 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- CATCACAGTGGACGATTCTGG -3'
(R):5'- CCATACTCTAACAGGCAGGG -3'

Sequencing Primer
(F):5'- CGATTCTGGGGCTATAGAATGAGC -3'
(R):5'- GTAGCCAAACAAAGACAAGTGCTAG -3'
Posted On 2015-05-14