Mutagenetix > Incidental Mutation

Incidental Mutation 'R7888:Cenpb'

609149

Institutional Source

Beutler Lab

Gene Symbol

Cenpb

Ensembl Gene

ENSMUSG00000068267

Gene Name

centromere protein B

Synonyms

MMRRC Submission

045940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R7888 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131019209-131021974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131021762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 12 (E12V)

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: E12V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000086938
Gene: ENSMUSG00000068267
AA Change: E12V

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

Meta Mutation Damage Score

0.5409

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	G	T	14: 8,246,415 (GRCm38)	Q459K	probably benign	Het
Ano3	T	A	2: 110,496,773 (GRCm39)	Y792F	probably damaging	Het
Aoc3	C	T	11: 101,223,323 (GRCm39)	H520Y	probably damaging	Het
Atp4b	A	G	8: 13,439,811 (GRCm39)	F137S	probably damaging	Het
Blvrb	A	G	7: 27,165,159 (GRCm39)	T160A	probably damaging	Het
Brd2	G	A	17: 34,335,995 (GRCm39)	R73W	probably damaging	Het
Btaf1	A	G	19: 36,943,036 (GRCm39)	T306A	probably benign	Het
Ccdc154	G	A	17: 25,383,578 (GRCm39)	V212M	possibly damaging	Het
Ccdc40	A	G	11: 119,119,967 (GRCm39)	E3G	unknown	Het
Cnot8	T	C	11: 58,002,137 (GRCm39)	S57P	probably benign	Het
Cryba4	T	C	5: 112,398,918 (GRCm39)	E42G	probably benign	Het
Fam72a	T	A	1: 131,456,578 (GRCm39)	I47N	probably damaging	Het
Gm27027	A	C	2: 93,787,880 (GRCm39)		probably null	Het
Itgb2	T	C	10: 77,400,478 (GRCm39)	V697A	probably benign	Het
Jakmip1	A	G	5: 37,262,208 (GRCm39)	N336D	probably damaging	Het
Kansl1	T	C	11: 104,233,248 (GRCm39)	T760A	probably benign	Het
Lrrc37a	T	A	11: 103,392,307 (GRCm39)	E1039D	probably benign	Het
Meaf6	T	G	4: 125,003,213 (GRCm39)		probably null	Het
Mpz	T	C	1: 170,987,204 (GRCm39)		probably null	Het
Mtss1	A	T	15: 58,844,373 (GRCm39)	M82K	probably damaging	Het
Myo6	T	C	9: 80,203,947 (GRCm39)	S1063P	probably damaging	Het
Niban2	T	A	2: 32,812,137 (GRCm39)	Y406*	probably null	Het
Nsun6	T	A	2: 15,001,355 (GRCm39)	E400D	probably benign	Het
Or10al5	A	T	17: 38,062,888 (GRCm39)	N48Y	probably damaging	Het
Or1e26	T	C	11: 73,480,354 (GRCm39)	D70G	probably damaging	Het
Or1l4b	A	T	2: 37,036,334 (GRCm39)	M37L	probably benign	Het
Or2t26	T	C	11: 49,039,266 (GRCm39)	Y61H	probably damaging	Het
Or52ae7	T	A	7: 103,120,006 (GRCm39)	Y253*	probably null	Het
Or5au1	A	G	14: 52,273,347 (GRCm39)	S74P	probably damaging	Het
Or8j3b	C	A	2: 86,205,270 (GRCm39)	C162F	probably benign	Het
Pfdn5	T	A	15: 102,237,024 (GRCm39)	V92E	probably damaging	Het
Pik3c2g	T	C	6: 139,842,470 (GRCm39)	V801A		Het
Psme2b	T	A	11: 48,836,402 (GRCm39)	T182S	possibly damaging	Het
Ptcd3	G	A	6: 71,860,431 (GRCm39)	A592V	probably damaging	Het
Rabgap1	T	A	2: 37,427,319 (GRCm39)	Y633*	probably null	Het
Rnf39	A	T	17: 37,258,133 (GRCm39)	T222S	probably damaging	Het
Scnn1g	A	G	7: 121,342,878 (GRCm39)	N277S	probably damaging	Het
Slc16a13	T	G	11: 70,109,806 (GRCm39)	I232L	possibly damaging	Het
Slco2b1	T	G	7: 99,338,050 (GRCm39)	R111S	unknown	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Tmc3	T	C	7: 83,249,217 (GRCm39)	W269R	probably damaging	Het
Vmn2r4	T	C	3: 64,313,943 (GRCm39)	E346G	probably damaging	Het
Vps52	A	G	17: 34,184,725 (GRCm39)	N666S	probably damaging	Het
Wdfy4	C	T	14: 32,812,920 (GRCm39)	D1618N		Het
Zfp773	C	A	7: 7,135,978 (GRCm39)	C206F	probably benign	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
R5617:Cenpb	UTSW	2	131,020,934 (GRCm39)	missense	probably damaging	0.99
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
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'- TGCTGGAACCAAGCGATGAG -3'
(R):5'- GTTTTGTCTCTGCCGATGAC -3'

Sequencing Primer
(F):5'- AGCTTGTCGTACGGGGACAG -3'
(R):5'- ATGACCTTTCCCGCGCG -3'

Posted On

2019-12-20