Mutagenetix > Incidental Mutation

Incidental Mutation 'R5617:Cenpb'

439566

Institutional Source

Beutler Lab

Gene Symbol

Cenpb

Ensembl Gene

ENSMUSG00000068267

Gene Name

centromere protein B

Synonyms

MMRRC Submission

043276-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R5617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131019209-131021974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131020934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 288 (E288G)

Ref Sequence

ENSEMBL: ENSMUSP00000086938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028801] [ENSMUST00000089510] [ENSMUST00000110218]

AlphaFold

P27790

Predicted Effect

probably benign
Transcript: ENSMUST00000028801

SMART Domains

Protein: ENSMUSP00000028801
Gene: ENSMUSG00000027329

Domain	Start	End	E-Value	Type
Pfam:CH_2	13	109	9.3e-36	PFAM
Pfam:CAMSAP_CH	14	96	7.9e-24	PFAM
coiled coil region	182	234	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000089510
AA Change: E288G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086938
Gene: ENSMUSG00000068267
AA Change: E288G

Domain	Start	End	E-Value	Type
Pfam:CENP-B_N	2	56	1.6e-26	PFAM
CENPB	71	136	7.05e-23	SMART
low complexity region	140	158	N/A	INTRINSIC
Pfam:DDE_1	222	384	4.9e-44	PFAM
coiled coil region	402	439	N/A	INTRINSIC
Pfam:CENP-B_dimeris	499	598	5.8e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110218

SMART Domains

Protein: ENSMUSP00000105847
Gene: ENSMUSG00000027329

Domain	Start	End	E-Value	Type
Pfam:CH	10	103	1.2e-7	PFAM
Pfam:DUF1042	13	164	5.7e-58	PFAM
Pfam:CAMSAP_CH	14	96	9e-23	PFAM
coiled coil region	182	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127987

SMART Domains

Protein: ENSMUSP00000114178
Gene: ENSMUSG00000027329

Domain	Start	End	E-Value	Type
Pfam:CH_2	7	103	1.7e-36	PFAM
Pfam:CAMSAP_CH	8	90	6e-24	PFAM

Meta Mutation Damage Score

0.1718

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display decreased body weight, small testis, oligospermia, and an age- and background-dependent reduction in female reproductive competence associated with abnormalities in uterus morphology, metral environment, gestational length, and parturition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,227,891 (GRCm39)	L645F	probably benign	Het
Acss3	T	C	10: 106,787,851 (GRCm39)	Y522C	probably damaging	Het
Asb18	A	G	1: 89,882,184 (GRCm39)	V118A	possibly damaging	Het
Aste1	T	A	9: 105,275,034 (GRCm39)	C8S	probably benign	Het
Atp10a	A	G	7: 58,453,423 (GRCm39)	S834G	probably benign	Het
Cdh18	A	G	15: 23,226,854 (GRCm39)	D105G	probably damaging	Het
Clcnka	C	T	4: 141,116,628 (GRCm39)	G541D	probably null	Het
Dctn3	T	C	4: 41,716,407 (GRCm39)	I134V	possibly damaging	Het
Dennd4b	T	C	3: 90,182,933 (GRCm39)	S917P	probably benign	Het
Fam135b	A	T	15: 71,493,865 (GRCm39)	D21E	probably damaging	Het
Fam174a	T	C	1: 95,241,972 (GRCm39)	V144A	probably damaging	Het
Fbxo38	A	G	18: 62,639,042 (GRCm39)	Y1087H	probably damaging	Het
Gm7275	A	T	16: 47,894,527 (GRCm39)		noncoding transcript	Het
Gm9271	G	T	7: 39,013,076 (GRCm39)		noncoding transcript	Het
Grm2	T	C	9: 106,528,275 (GRCm39)		probably null	Het
Htt	T	A	5: 35,028,150 (GRCm39)	V1802D	possibly damaging	Het
Ighv1-75	C	A	12: 115,797,874 (GRCm39)	G16V	probably benign	Het
Krt78	G	A	15: 101,856,044 (GRCm39)	T589I	probably damaging	Het
Lama3	T	C	18: 12,631,993 (GRCm39)		probably benign	Het
Lbr	A	T	1: 181,656,467 (GRCm39)	V227D	probably benign	Het
Lsamp	T	C	16: 41,954,786 (GRCm39)	V211A	probably damaging	Het
Map3k19	G	A	1: 127,750,703 (GRCm39)	R883C	probably damaging	Het
Marchf8	A	C	6: 116,380,481 (GRCm39)	I111L	possibly damaging	Het
Mrps10	T	A	17: 47,689,167 (GRCm39)	M187K	probably benign	Het
Ncdn	G	A	4: 126,638,840 (GRCm39)	R660C	probably damaging	Het
Notum	A	T	11: 120,547,171 (GRCm39)	Y332*	probably null	Het
Nr1h5	A	T	3: 102,855,145 (GRCm39)	L319I	probably damaging	Het
Or51q1	A	T	7: 103,628,921 (GRCm39)	H180L	possibly damaging	Het
Or8k35	T	A	2: 86,424,345 (GRCm39)	I276L	probably benign	Het
Osbpl5	T	C	7: 143,246,684 (GRCm39)	D765G	possibly damaging	Het
Parp3	C	T	9: 106,351,704 (GRCm39)	V170M	possibly damaging	Het
Pcdh15	A	G	10: 74,471,504 (GRCm39)		probably benign	Het
Pcdha9	T	G	18: 37,131,869 (GRCm39)	S313A	probably benign	Het
Pfkm	A	G	15: 98,020,107 (GRCm39)	R201G	possibly damaging	Het
Pgm5	G	A	19: 24,727,765 (GRCm39)	R375*	probably null	Het
Phactr2	A	G	10: 13,349,809 (GRCm39)	S72P	possibly damaging	Het
Plaat1	A	T	16: 29,039,162 (GRCm39)	R81*	probably null	Het
Plec	A	G	15: 76,058,732 (GRCm39)	L3600P	probably damaging	Het
Pou6f1	G	A	15: 100,483,874 (GRCm39)	T208M	possibly damaging	Het
Rabep1	C	T	11: 70,808,355 (GRCm39)	S394L	probably damaging	Het
Ranbp2	T	G	10: 58,301,489 (GRCm39)	F687C	probably damaging	Het
Ranbp6	A	G	19: 29,789,863 (GRCm39)	F163S	probably damaging	Het
Rcor3	T	C	1: 191,804,430 (GRCm39)	N240D	probably benign	Het
Samd13	C	A	3: 146,352,065 (GRCm39)	K95N	probably benign	Het
Slc25a17	G	T	15: 81,244,975 (GRCm39)		probably benign	Het
Slfn8	G	T	11: 82,895,547 (GRCm39)	H420N	probably benign	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Stim2	G	A	5: 54,267,075 (GRCm39)	E21K	probably damaging	Het
Tmem163	A	G	1: 127,479,067 (GRCm39)	Y151H	possibly damaging	Het
Trio	A	G	15: 27,902,834 (GRCm39)	I209T	probably benign	Het
Tubal3	T	A	13: 3,983,432 (GRCm39)	L404H	probably damaging	Het
Ubqln3	A	G	7: 103,791,640 (GRCm39)	F150S	probably damaging	Het
Ubr5	T	C	15: 38,030,901 (GRCm39)	S425G	possibly damaging	Het
Vmn2r52	T	A	7: 9,904,861 (GRCm39)	H326L	probably damaging	Het

Other mutations in Cenpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02421:Cenpb	APN	2	131,021,601 (GRCm39)	missense	probably damaging	1.00
R0183:Cenpb	UTSW	2	131,020,373 (GRCm39)	unclassified	probably benign
R1378:Cenpb	UTSW	2	131,020,230 (GRCm39)	unclassified	probably benign
R1934:Cenpb	UTSW	2	131,021,184 (GRCm39)	missense	probably benign
R2086:Cenpb	UTSW	2	131,020,517 (GRCm39)	unclassified	probably benign
R2132:Cenpb	UTSW	2	131,021,226 (GRCm39)	missense	probably damaging	1.00
R4776:Cenpb	UTSW	2	131,020,103 (GRCm39)	unclassified	probably benign
R5056:Cenpb	UTSW	2	131,020,091 (GRCm39)	unclassified	probably benign
R5120:Cenpb	UTSW	2	131,021,738 (GRCm39)	missense	probably benign	0.00
R6297:Cenpb	UTSW	2	131,020,289 (GRCm39)	unclassified	probably benign
R6467:Cenpb	UTSW	2	131,021,477 (GRCm39)	missense	probably damaging	1.00
R6673:Cenpb	UTSW	2	131,021,165 (GRCm39)	missense	probably damaging	0.98
R6916:Cenpb	UTSW	2	131,021,544 (GRCm39)	missense	probably benign	0.04
R7102:Cenpb	UTSW	2	131,020,799 (GRCm39)	missense	probably damaging	0.99
R7888:Cenpb	UTSW	2	131,021,762 (GRCm39)	missense	probably damaging	0.99
R8809:Cenpb	UTSW	2	131,020,322 (GRCm39)	missense	unknown
R8968:Cenpb	UTSW	2	131,020,547 (GRCm39)	missense	unknown
R9180:Cenpb	UTSW	2	131,021,463 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGGCCTTGAGCAACATCGC -3'
(R):5'- AGCCTGTGGTACGACTTTCTG -3'

Sequencing Primer
(F):5'- TTGAGCAACATCGCCTGGC -3'
(R):5'- ACTTTCTGTCGGACCAGGC -3'

Posted On

2016-11-08