Mutagenetix > Incidental Mutation

Incidental Mutation 'R0089:Cenpt'

20067

Institutional Source

Beutler Lab

Gene Symbol

Cenpt

Ensembl Gene

ENSMUSG00000036672

Gene Name

centromere protein T

Synonyms

G630055P03Rik

MMRRC Submission

038376-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0089 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106571305-106579910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106573000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 364 (T364A)

Ref Sequence

ENSEMBL: ENSMUSP00000038188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034365] [ENSMUST00000040776] [ENSMUST00000212431] [ENSMUST00000212552] [ENSMUST00000212566] [ENSMUST00000212839]

AlphaFold

Q3TJM4

Predicted Effect

probably benign
Transcript: ENSMUST00000034365

SMART Domains

Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893

Domain	Start	End	E-Value	Type
Pfam:TSNAXIP1_N	98	209	3.5e-33	PFAM
coiled coil region	304	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040776
AA Change: T364A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038188
Gene: ENSMUSG00000036672
AA Change: T364A

Domain	Start	End	E-Value	Type
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: ENSMUST00000212797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212625

Predicted Effect

probably benign
Transcript: ENSMUST00000212839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212873

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,303 (GRCm39)	H163L	probably benign	Het
Abca13	T	A	11: 9,242,886 (GRCm39)	V1583E	possibly damaging	Het
Ablim1	G	T	19: 57,031,463 (GRCm39)	S654Y	probably damaging	Het
Acbd4	T	C	11: 102,994,819 (GRCm39)	F59S	probably damaging	Het
Acot1	T	C	12: 84,063,708 (GRCm39)	I272T	probably damaging	Het
Ankhd1	A	G	18: 36,773,409 (GRCm39)	D1402G	probably damaging	Het
Birc6	T	A	17: 74,945,371 (GRCm39)	F2800I	possibly damaging	Het
Brd1	T	C	15: 88,585,401 (GRCm39)	E811G	probably benign	Het
Catspere2	C	T	1: 177,874,555 (GRCm39)	P141S	unknown	Het
Ccdc106	A	G	7: 5,059,220 (GRCm39)		probably null	Het
Ccdc81	G	T	7: 89,542,324 (GRCm39)	A184E	possibly damaging	Het
Crybg2	T	C	4: 133,808,505 (GRCm39)	S1060P	probably damaging	Het
Dnttip2	A	G	3: 122,069,111 (GRCm39)	T109A	possibly damaging	Het
Dpy19l2	A	G	9: 24,607,089 (GRCm39)	L124P	probably benign	Het
Eif1ad19	A	T	12: 87,740,283 (GRCm39)	I92N	probably damaging	Het
Fat3	T	C	9: 15,849,501 (GRCm39)	D3967G	probably benign	Het
Fbxo21	T	A	5: 118,146,208 (GRCm39)	F610L	probably benign	Het
Fmo9	T	C	1: 166,494,878 (GRCm39)	D341G	probably benign	Het
Frem3	A	T	8: 81,342,507 (GRCm39)	H1600L	possibly damaging	Het
Fry	A	T	5: 150,263,892 (GRCm39)	K133N	possibly damaging	Het
Gm10647	A	G	9: 66,705,612 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,906,119 (GRCm39)	F472S	probably benign	Het
Grb10	T	C	11: 11,884,192 (GRCm39)		probably benign	Het
Grm6	G	A	11: 50,750,792 (GRCm39)	G652S	probably damaging	Het
Heca	G	T	10: 17,783,848 (GRCm39)	D468E	probably damaging	Het
Heg1	C	T	16: 33,583,985 (GRCm39)	S1033L	probably damaging	Het
Hepacam2	A	G	6: 3,487,094 (GRCm39)	S12P	probably damaging	Het
Impdh1	G	T	6: 29,206,325 (GRCm39)	H195N	probably benign	Het
Ipo7	T	C	7: 109,649,972 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,251,520 (GRCm39)		probably null	Het
Kcnh6	G	A	11: 105,899,848 (GRCm39)	C39Y	probably benign	Het
Kif26a	T	C	12: 112,143,837 (GRCm39)	S1364P	probably damaging	Het
Lins1	T	A	7: 66,361,796 (GRCm39)		probably benign	Het
Lrpap1	C	T	5: 35,252,232 (GRCm39)	V328M	possibly damaging	Het
Lyn	T	G	4: 3,748,768 (GRCm39)	L249V	probably benign	Het
Mpp7	A	G	18: 7,439,555 (GRCm39)		probably benign	Het
Mtmr9	A	G	14: 63,765,696 (GRCm39)	F400L	possibly damaging	Het
Mto1	G	A	9: 78,381,154 (GRCm39)	S666N	probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nsg1	T	C	5: 38,312,974 (GRCm39)	E75G	probably benign	Het
Nsun4	A	G	4: 115,892,970 (GRCm39)	M283T	probably benign	Het
Obscn	A	G	11: 58,890,888 (GRCm39)	S7215P	unknown	Het
Or11j4	T	C	14: 50,630,321 (GRCm39)	I36T	probably benign	Het
Or13a20	T	C	7: 140,232,224 (GRCm39)	S111P	probably damaging	Het
Or1j12	G	A	2: 36,343,107 (GRCm39)	R170K	probably benign	Het
Or2y13	G	A	11: 49,415,033 (GRCm39)	S161N	possibly damaging	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5al1	A	C	2: 85,989,918 (GRCm39)	S265R	possibly damaging	Het
Or9m1b	T	C	2: 87,836,331 (GRCm39)	I264V	probably damaging	Het
Per1	T	C	11: 68,994,869 (GRCm39)	F563S	probably benign	Het
Pik3c3	T	A	18: 30,436,131 (GRCm39)		probably benign	Het
Pitrm1	A	T	13: 6,605,675 (GRCm39)	K207N	probably damaging	Het
Prdm10	C	T	9: 31,227,526 (GRCm39)	R44C	probably damaging	Het
Rab40c	A	T	17: 26,104,122 (GRCm39)	I90N	probably damaging	Het
Rbl1	A	G	2: 157,041,334 (GRCm39)		probably null	Het
Rnf17	G	A	14: 56,751,563 (GRCm39)	G1467E	probably damaging	Het
Rpgrip1	A	G	14: 52,386,841 (GRCm39)		probably benign	Het
Sall1	A	T	8: 89,756,896 (GRCm39)	N1069K	probably benign	Het
Scap	T	C	9: 110,201,290 (GRCm39)	I93T	possibly damaging	Het
Sez6	T	C	11: 77,865,170 (GRCm39)		probably benign	Het
Slc22a30	A	T	19: 8,347,561 (GRCm39)	S280T	probably benign	Het
Slc26a5	A	C	5: 22,016,342 (GRCm39)		probably null	Het
St18	T	C	1: 6,919,172 (GRCm39)	V901A	probably benign	Het
Syne2	T	C	12: 76,010,650 (GRCm39)	L2519P	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tmem51	T	C	4: 141,759,236 (GRCm39)	T171A	probably benign	Het
Tns4	A	T	11: 98,966,024 (GRCm39)	I453N	probably damaging	Het
Trank1	A	T	9: 111,221,978 (GRCm39)	H2905L	probably benign	Het
Trim13	C	T	14: 61,842,166 (GRCm39)	T61I	possibly damaging	Het
Trim75	T	C	8: 65,435,580 (GRCm39)	Q290R	possibly damaging	Het
Ttn	C	A	2: 76,559,544 (GRCm39)	R29619L	probably damaging	Het
Ugt2b38	T	A	5: 87,568,417 (GRCm39)	M293L	probably benign	Het
Vmn1r22	T	A	6: 57,877,513 (GRCm39)	N155Y	probably benign	Het
Vmn2r18	T	C	5: 151,508,269 (GRCm39)	Y285C	probably benign	Het
Vmn2r84	C	T	10: 130,222,588 (GRCm39)		probably benign	Het
Vwde	A	C	6: 13,220,004 (GRCm39)	L49R	probably damaging	Het
Yipf2	T	A	9: 21,503,262 (GRCm39)	E68D	possibly damaging	Het
Zfand5	C	A	19: 21,257,122 (GRCm39)		probably benign	Het

Other mutations in Cenpt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGCTGTGCTTGACAATCATCC -3'
(R):5'- GGAAACTTCTGCTAGGCCAGGTAAG -3'

Sequencing Primer
(F):5'- GTGCTTGACAATCATCCGTATAGC -3'
(R):5'- GTCTTACAGAAGAGAATTTGCCCC -3'

Posted On

2013-04-11