Mutagenetix > Incidental Mutation

Incidental Mutation 'R0508:Cenpt'

47728

Institutional Source

Beutler Lab

Gene Symbol

Cenpt

Ensembl Gene

ENSMUSG00000036672

Gene Name

centromere protein T

Synonyms

G630055P03Rik

MMRRC Submission

038703-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0508 (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 106576147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 100 (E100G)

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

possibly damaging
Transcript: ENSMUST00000040776
AA Change: E100G

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038188
Gene: ENSMUSG00000036672
AA Change: E100G

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: 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

Meta Mutation Damage Score

0.0883

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,211,162 (GRCm39)	L632P	probably damaging	Het
4833439L19Rik	A	G	13: 54,700,863 (GRCm39)		probably null	Het
Abca4	T	C	3: 121,917,200 (GRCm39)		probably benign	Het
Adamts10	G	T	17: 33,762,692 (GRCm39)	G557V	probably damaging	Het
Adgrg6	T	C	10: 14,326,360 (GRCm39)	H424R	probably benign	Het
Ano4	T	C	10: 88,816,839 (GRCm39)	Q623R	probably damaging	Het
Ap1g1	T	A	8: 110,564,364 (GRCm39)		probably benign	Het
Ap3b1	T	C	13: 94,702,222 (GRCm39)	S1092P	unknown	Het
Arhgap32	A	T	9: 32,101,364 (GRCm39)		probably benign	Het
Arhgap40	A	T	2: 158,388,670 (GRCm39)	S535C	probably damaging	Het
Atp9a	T	C	2: 168,491,446 (GRCm39)		probably null	Het
Bicral	A	T	17: 47,136,327 (GRCm39)	H294Q	possibly damaging	Het
Ccdc121rt3	T	C	5: 112,502,685 (GRCm39)	K340E	probably damaging	Het
Cdhr5	T	A	7: 140,852,812 (GRCm39)	H58L	probably benign	Het
Cep97	A	G	16: 55,750,969 (GRCm39)	S16P	probably benign	Het
Clec2i	T	A	6: 128,870,663 (GRCm39)	V67D	probably damaging	Het
Col22a1	A	G	15: 71,805,262 (GRCm39)	L146P	unknown	Het
Coq6	G	T	12: 84,414,913 (GRCm39)		probably benign	Het
Cyp1a1	A	G	9: 57,607,588 (GRCm39)	Q72R	probably benign	Het
Ep400	A	G	5: 110,887,374 (GRCm39)	S570P	probably benign	Het
Erbin	T	C	13: 103,970,535 (GRCm39)	N1027S	probably damaging	Het
Exog	T	A	9: 119,277,444 (GRCm39)		probably benign	Het
Fahd1	A	C	17: 25,068,975 (GRCm39)	V34G	probably benign	Het
Fetub	C	T	16: 22,748,045 (GRCm39)	R74W	probably benign	Het
Fhip2a	T	A	19: 57,367,174 (GRCm39)	L239Q	probably benign	Het
Frmpd1	G	A	4: 45,284,938 (GRCm39)	G1253D	unknown	Het
Galnt12	A	G	4: 47,104,255 (GRCm39)	D171G	probably damaging	Het
Gm973	G	T	1: 59,621,649 (GRCm39)		probably benign	Het
Hdlbp	C	A	1: 93,342,533 (GRCm39)		probably null	Het
Il1rl1	T	A	1: 40,490,877 (GRCm39)	I386N	possibly damaging	Het
Itgav	T	C	2: 83,623,002 (GRCm39)		probably benign	Het
Magoh	A	C	4: 107,742,195 (GRCm39)	K114Q	possibly damaging	Het
Mdfic2	T	C	6: 98,215,005 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,302,075 (GRCm39)	D986E	probably benign	Het
Muc4	G	A	16: 32,570,131 (GRCm39)	S397N	possibly damaging	Het
Nckap5	T	C	1: 125,909,121 (GRCm39)		probably null	Het
Neu1	A	G	17: 35,151,760 (GRCm39)	I185V	probably benign	Het
Nkiras1	T	A	14: 18,278,524 (GRCm38)	D79E	probably damaging	Het
Nkx3-1	A	G	14: 69,428,350 (GRCm39)	E66G	probably benign	Het
Or51a5	A	T	7: 102,771,193 (GRCm39)	I262N	possibly damaging	Het
Osbpl11	T	A	16: 33,016,465 (GRCm39)	N73K	probably benign	Het
Otulin	C	T	15: 27,608,944 (GRCm39)	V2I	possibly damaging	Het
Pdss2	CGGAG	CG	10: 43,097,927 (GRCm39)		probably benign	Het
Pld2	T	C	11: 70,443,368 (GRCm39)	M421T	probably damaging	Het
Rgs11	A	G	17: 26,426,443 (GRCm39)		probably benign	Het
Rrad	A	T	8: 105,356,500 (GRCm39)	D133E	possibly damaging	Het
Scaf11	A	G	15: 96,318,368 (GRCm39)	S399P	probably damaging	Het
Sccpdh	A	G	1: 179,508,080 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,548,186 (GRCm39)	E1126G	probably damaging	Het
Selenop	T	G	15: 3,305,202 (GRCm39)	D119E	probably benign	Het
Serpinb3c	T	A	1: 107,204,651 (GRCm39)	S32C	probably damaging	Het
Serpine1	C	A	5: 137,093,770 (GRCm39)	K315N	probably benign	Het
Slc27a1	T	C	8: 72,032,872 (GRCm39)		probably benign	Het
Slc4a8	G	A	15: 100,686,973 (GRCm39)	R259Q	probably benign	Het
Smtnl2	C	T	11: 72,293,962 (GRCm39)	R198Q	probably damaging	Het
Spta1	A	C	1: 174,052,023 (GRCm39)	Y1819S	probably damaging	Het
Stard3	T	A	11: 98,263,140 (GRCm39)	I65N	probably damaging	Het
Tfrc	T	C	16: 32,448,997 (GRCm39)	L712P	probably damaging	Het
Tmem201	G	A	4: 149,816,343 (GRCm39)	R62C	probably damaging	Het
Trim5	A	T	7: 103,914,811 (GRCm39)	F410L	probably null	Het
Txndc2	T	A	17: 65,944,948 (GRCm39)	I410F	probably benign	Het
Urb1	C	T	16: 90,580,150 (GRCm39)		probably benign	Het
Vmn1r34	A	T	6: 66,614,392 (GRCm39)	F115L	probably benign	Het
Vnn1	T	C	10: 23,770,910 (GRCm39)	V46A	probably benign	Het
Xrn1	T	A	9: 95,933,789 (GRCm39)	S1615R	probably benign	Het
Zfand4	T	A	6: 116,262,828 (GRCm39)	C118S	probably damaging	Het
Zfp952	G	A	17: 33,221,979 (GRCm39)	E115K	possibly damaging	Het
Zfpm1	T	C	8: 123,061,872 (GRCm39)	F368L	probably damaging	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
R0089:Cenpt	UTSW	8	106,573,000 (GRCm39)	missense	probably benign	0.00
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'- AGTTCAGGAAGGTGTAGCTCCAGG -3'
(R):5'- TGGCAGATCGACTCGTGTTCAAGG -3'

Sequencing Primer
(F):5'- TAGCTCCAGGCTGTAAGGATG -3'
(R):5'- ACTCGTGTTCAAGGTCGTG -3'

Posted On

2013-06-12