Incidental Mutation 'IGL03403:Cenpt'
ID421498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpt
Ensembl Gene ENSMUSG00000036672
Gene Namecentromere protein T
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.889) question?
Stock #IGL03403
Quality Score
Status
Chromosome8
Chromosomal Location105844673-105853278 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 105849665 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 85 (Q85*)
Ref Sequence ENSEMBL: ENSMUSP00000038188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034365] [ENSMUST00000040776] [ENSMUST00000212431] [ENSMUST00000212552] [ENSMUST00000212566] [ENSMUST00000212839]
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: Q85*
SMART Domains Protein: ENSMUSP00000038188
Gene: ENSMUSG00000036672
AA Change: Q85*

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: ENSMUST00000212566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212803
Predicted Effect probably benign
Transcript: ENSMUST00000212839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212873
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A C 15: 8,201,342 K1034N probably damaging Het
Adamts12 T A 15: 11,241,488 I382N probably damaging Het
Adamts5 T C 16: 85,863,014 T797A probably damaging Het
Ahr A T 12: 35,504,326 V598E possibly damaging Het
Akap10 A G 11: 61,915,273 S210P probably benign Het
Asb5 G T 8: 54,583,547 probably benign Het
AU041133 T C 10: 82,138,344 V31A probably damaging Het
Bcar3 T C 3: 122,512,969 V197A probably benign Het
Bptf A G 11: 107,099,733 V510A possibly damaging Het
Ccar2 A T 14: 70,140,068 D712E probably damaging Het
Ciita C A 16: 10,503,872 H98N probably damaging Het
Csn1s1 T A 5: 87,667,293 M16K probably benign Het
Fah A G 7: 84,593,209 I297T probably damaging Het
Fbxo25 A G 8: 13,929,423 N214D probably benign Het
Frem3 A C 8: 80,611,090 D4A probably benign Het
Gm12800 T C 4: 101,909,928 S125P probably benign Het
Gm3409 A G 5: 146,539,524 K162E probably benign Het
Gxylt1 T C 15: 93,261,775 D148G possibly damaging Het
Hoxd4 A T 2: 74,728,337 E168V possibly damaging Het
Ifna6 A G 4: 88,827,458 S15G possibly damaging Het
Iqck T A 7: 118,876,271 H97Q probably benign Het
Kif16b T A 2: 142,711,869 E1003V probably damaging Het
Lrp1b G A 2: 40,702,824 P3761L probably benign Het
Mc4r C T 18: 66,859,526 C172Y possibly damaging Het
Olfr373 A G 8: 72,100,497 T246A probably benign Het
Oosp1 T A 19: 11,687,380 N104I probably damaging Het
Pram1 A T 17: 33,642,143 I513F probably damaging Het
Rasef A G 4: 73,734,534 S577P probably damaging Het
Rfx8 T C 1: 39,690,173 D144G possibly damaging Het
Rreb1 A C 13: 37,929,574 N303T possibly damaging Het
Rrn3 A T 16: 13,799,945 K351* probably null Het
Sox30 A T 11: 46,017,208 E734V probably damaging Het
Spns1 C T 7: 126,371,536 probably null Het
Tgfbr2 T A 9: 116,110,302 E177D probably benign Het
Tnfaip8l3 A G 9: 54,027,457 M78T possibly damaging Het
Vmn2r92 C T 17: 18,166,852 T151I probably damaging Het
Wwc1 A G 11: 35,915,284 Y41H possibly damaging Het
Zfp407 A T 18: 84,560,797 N730K probably damaging Het
Other mutations in Cenpt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Cenpt APN 8 105846665 missense possibly damaging 0.52
IGL01970:Cenpt APN 8 105845116 missense probably damaging 1.00
IGL03141:Cenpt APN 8 105851941 missense probably damaging 0.99
R0089:Cenpt UTSW 8 105846368 missense probably benign 0.00
R0508:Cenpt UTSW 8 105849515 missense possibly damaging 0.81
R0648:Cenpt UTSW 8 105844960 missense probably damaging 0.99
R1460:Cenpt UTSW 8 105848888 missense probably damaging 1.00
R1839:Cenpt UTSW 8 105849014 missense possibly damaging 0.95
R4117:Cenpt UTSW 8 105849700 missense probably benign
R4732:Cenpt UTSW 8 105847136 missense probably benign 0.00
R4733:Cenpt UTSW 8 105847136 missense probably benign 0.00
R6246:Cenpt UTSW 8 105849259 missense possibly damaging 0.95
R6413:Cenpt UTSW 8 105846341 missense possibly damaging 0.64
R6582:Cenpt UTSW 8 105849201 nonsense probably null
R7299:Cenpt UTSW 8 105849904 nonsense probably null
Posted On2016-08-02