Incidental Mutation 'R6582:Cenpt'
ID 524162
Institutional Source Beutler Lab
Gene Symbol Cenpt
Ensembl Gene ENSMUSG00000036672
Gene Name centromere protein T
Synonyms G630055P03Rik
MMRRC Submission 044706-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6582 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106571305-106579910 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 106575833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 171 (L171*)
Ref Sequence ENSEMBL: ENSMUSP00000038188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034365] [ENSMUST00000040776] [ENSMUST00000212431] [ENSMUST00000212552] [ENSMUST00000212839] [ENSMUST00000212566]
AlphaFold Q3TJM4
Predicted Effect probably benign
Transcript: ENSMUST00000034365
SMART Domains Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893

DomainStartEndE-ValueType
Pfam:TSNAXIP1_N 98 209 3.5e-33 PFAM
coiled coil region 304 342 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000040776
AA Change: L171*
SMART Domains Protein: ENSMUSP00000038188
Gene: ENSMUSG00000036672
AA Change: L171*

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 probably benign
Transcript: ENSMUST00000212839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212625
Predicted Effect probably benign
Transcript: ENSMUST00000212566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212797
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,384 (GRCm39) T2369A probably benign Het
Abhd6 T G 14: 8,042,828 (GRCm38) probably null Het
Abhd6 G T 14: 8,042,826 (GRCm38) G128C probably damaging Het
Acsm3 A G 7: 119,378,896 (GRCm39) E426G probably benign Het
Ankrd11 T C 8: 123,618,368 (GRCm39) D1828G probably benign Het
Asmt T A X: 169,108,766 (GRCm39) probably null Het
Casp4 A G 9: 5,324,884 (GRCm39) Q232R probably benign Het
Chd3 AGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGG 11: 69,259,982 (GRCm39) probably benign Het
Col5a2 G T 1: 45,429,275 (GRCm39) H948N possibly damaging Het
Dnah9 G T 11: 65,951,923 (GRCm39) H1859N probably damaging Het
Dscaml1 G A 9: 45,664,104 (GRCm39) R1993Q probably benign Het
Fbxw8 C A 5: 118,263,028 (GRCm39) R217L probably benign Het
Flnb T G 14: 7,892,275 (GRCm38) probably null Het
Fyb2 A G 4: 104,802,739 (GRCm39) N214D probably benign Het
Gbp2b A G 3: 142,316,801 (GRCm39) E484G possibly damaging Het
Gzmk A G 13: 113,317,045 (GRCm39) Y45H probably damaging Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kcnj6 A G 16: 94,633,685 (GRCm39) V142A possibly damaging Het
Klri2 A T 6: 129,716,096 (GRCm39) I81K possibly damaging Het
Lama3 T A 18: 12,710,897 (GRCm39) V3144E probably damaging Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mbd3l1 T C 9: 18,396,024 (GRCm39) Y50H probably benign Het
Mcat T C 15: 83,433,383 (GRCm39) N220S probably benign Het
Muc2 A G 7: 141,282,941 (GRCm39) E81G probably benign Het
Neto1 A T 18: 86,512,985 (GRCm39) K327* probably null Het
Or10j3 G T 1: 173,031,847 (GRCm39) R308L probably benign Het
Or4a67 A T 2: 88,598,587 (GRCm39) L24Q probably damaging Het
Or52p1 A T 7: 104,267,648 (GRCm39) Y254F probably damaging Het
Or52u1 T C 7: 104,237,218 (GRCm39) L69P probably damaging Het
Pidd1 A T 7: 141,019,494 (GRCm39) V722D probably damaging Het
Ppp2r2a G T 14: 67,257,253 (GRCm39) H326N probably damaging Het
Smarca5 G A 8: 81,446,281 (GRCm39) T473I probably damaging Het
Spg11 C A 2: 121,922,773 (GRCm39) W892L probably damaging Het
Tas2r110 T A 6: 132,845,248 (GRCm39) I93N possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r71 T A 7: 10,482,608 (GRCm39) I27F probably benign Het
Vsnl1 A G 12: 11,376,489 (GRCm39) V132A probably benign Het
Wdsub1 T C 2: 59,708,652 (GRCm39) T74A probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C 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
R4117:Cenpt UTSW 8 106,576,332 (GRCm39) missense probably benign
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
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'- GCCAAGGATGAAACATCAGC -3'
(R):5'- ACGGTGAATTTCCCTCATAGGC -3'

Sequencing Primer
(F):5'- AGCACTCCTACTCCTACGTGG -3'
(R):5'- GGATCCCCAGAAACTAAAATTGGGC -3'
Posted On 2018-06-22