Incidental Mutation 'IGL03141:Cenpt'
ID 410692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpt
Ensembl Gene ENSMUSG00000036672
Gene Name centromere protein T
Synonyms G630055P03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03141
Quality Score
Status
Chromosome 8
Chromosomal Location 106571305-106579910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106578573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 15 (T15S)
Ref Sequence ENSEMBL: ENSMUSP00000038188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040445] [ENSMUST00000040776] [ENSMUST00000212431] [ENSMUST00000212552] [ENSMUST00000212839]
AlphaFold Q3TJM4
Predicted Effect probably benign
Transcript: ENSMUST00000040445
SMART Domains Protein: ENSMUSP00000048994
Gene: ENSMUSG00000036442

DomainStartEndE-ValueType
THAP 4 86 2.39e-8 SMART
DM3 23 85 1.26e-9 SMART
coiled coil region 97 122 N/A INTRINSIC
low complexity region 140 155 N/A INTRINSIC
low complexity region 188 213 N/A INTRINSIC
coiled coil region 246 292 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000040776
AA Change: T15S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038188
Gene: ENSMUSG00000036672
AA Change: T15S

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 possibly damaging
Transcript: ENSMUST00000212431
AA Change: T15S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212552
AA Change: T15S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212839
AA Change: T15S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212797
Coding Region Coverage
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 T C 15: 89,207,531 (GRCm39) I14T probably benign Het
AY761185 G A 8: 21,434,576 (GRCm39) R51C possibly damaging Het
Cotl1 T C 8: 120,537,022 (GRCm39) K131E possibly damaging Het
D5Ertd579e T A 5: 36,770,621 (GRCm39) D1258V possibly damaging Het
Decr1 A T 4: 15,932,902 (GRCm39) I88K probably damaging Het
Efcab3 T C 11: 104,986,696 (GRCm39) S5408P probably damaging Het
Gsto2 T C 19: 47,863,312 (GRCm39) Y63H probably damaging Het
Lrp2 A T 2: 69,307,370 (GRCm39) D2896E probably damaging Het
Lrrc3b T G 14: 15,358,390 (GRCm38) D72A probably damaging Het
Npas1 T C 7: 16,199,063 (GRCm39) E164G probably damaging Het
Or6f1 T A 7: 85,970,909 (GRCm39) I84F probably damaging Het
Parp14 C A 16: 35,659,663 (GRCm39) R1653L probably benign Het
Polq A G 16: 36,837,720 (GRCm39) probably benign Het
Sec31b A T 19: 44,514,759 (GRCm39) probably benign Het
Slc7a11 C T 3: 50,336,334 (GRCm39) A337T possibly damaging Het
Snapc3 A G 4: 83,353,523 (GRCm39) I187M probably damaging Het
Sorcs2 T C 5: 36,222,699 (GRCm39) E352G probably benign Het
Spout1 A C 2: 30,065,067 (GRCm39) V311G probably damaging Het
Syne1 T A 10: 5,374,261 (GRCm39) K182M probably damaging Het
Vmn2r110 A G 17: 20,803,976 (GRCm39) S200P possibly 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
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
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
Posted On 2016-08-02