Mutagenetix > Incidental Mutations

Incidental Mutation 'R2086:Cenpb'

229970

Institutional Source

Beutler Lab

Gene Symbol

Cenpb

Ensembl Gene

ENSMUSG00000068267

Gene Name

centromere protein B

Synonyms

MMRRC Submission

040091-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R2086 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

131175182-131180067 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 131178597 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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

unknown
Transcript: ENSMUST00000089510
AA Change: E427G

SMART Domains

Protein: ENSMUSP00000086938
Gene: ENSMUSG00000068267
AA Change: E427G

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

0.0892

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,595	M53T	unknown	Het
Abcb11	T	A	2: 69,259,476		probably benign	Het
Acap2	C	G	16: 31,110,945	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,228,012	R302G	probably damaging	Het
Ap2b1	T	G	11: 83,351,118	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,352,298	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,757,852	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,550,067	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,316,782	V37D	probably damaging	Het
Cacna1d	T	C	14: 30,047,357	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,109,411	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,203	E256G	probably damaging	Het
Cd5	A	G	19: 10,723,256	S295P	probably benign	Het
Cntnap3	A	G	13: 64,794,262	M218T	possibly damaging	Het
Colec11	C	T	12: 28,594,787	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098		probably benign	Het
Csnk2a1	A	G	2: 152,254,281	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,312,308	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,743,659	Q98L	probably null	Het
Dnah11	G	T	12: 118,113,871	Q1296K	possibly damaging	Het
Doxl2	A	G	6: 48,977,602	E558G	probably damaging	Het
Edc4	T	A	8: 105,888,002	D105E	probably damaging	Het
Eid2b	C	T	7: 28,277,773		probably benign	Het
Exoc1	A	T	5: 76,532,846	K28*	probably null	Het
Fam114a1	A	G	5: 64,980,059	D115G	probably benign	Het
Fam151a	A	T	4: 106,735,563		probably null	Het
Gc	T	C	5: 89,438,342	Y313C	probably damaging	Het
Gdpd1	A	G	11: 87,035,268	Y284H	probably benign	Het
Gm21957	T	A	7: 125,219,706		noncoding transcript	Het
Golm1	G	A	13: 59,645,185	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281	V813A	probably damaging	Het
Itih1	C	T	14: 30,937,843	A279T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lama1	T	C	17: 67,817,623	C2893R	probably damaging	Het
Lama3	T	A	18: 12,524,830	N334K	probably benign	Het
Loxhd1	A	G	18: 77,384,946	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,398,385	K316R	probably benign	Het
Mapre3	A	C	5: 30,863,202		probably null	Het
Mfsd7a	C	T	5: 108,445,621	R117H	probably damaging	Het
Mgam	T	A	6: 40,761,028		probably null	Het
Mical2	A	C	7: 112,318,603	H389P	probably benign	Het
Mtmr2	A	G	9: 13,799,952	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,634,071	L1309F	probably benign	Het
Nid2	G	A	14: 19,778,043	G516S	probably benign	Het
Nodal	A	T	10: 61,423,298	E171D	possibly damaging	Het
Notch2	T	C	3: 98,102,367	S537P	probably damaging	Het
Obox6	A	G	7: 15,833,607	L305S	probably damaging	Het
Obscn	T	C	11: 59,078,256	D2715G	probably damaging	Het
Olfr154	A	C	2: 85,663,746	S229R	probably benign	Het
Olfr728	T	A	14: 50,140,123	N172I	probably damaging	Het
Pcca	T	C	14: 122,686,115	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,380,471	S407P	probably damaging	Het
Plekha5	C	A	6: 140,570,318		probably null	Het
Ptdss1	A	G	13: 66,953,555	N72S	probably benign	Het
Ptprs	T	C	17: 56,454,984	I43V	probably null	Het
Pygm	G	A	19: 6,391,481		probably null	Het
Rab7	C	T	6: 88,012,318	V57I	probably benign	Het
Rasl10a	A	G	11: 5,059,431		probably null	Het
Rergl	T	C	6: 139,494,834	T106A	probably benign	Het
Rnf17	T	G	14: 56,483,380	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,593,967	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,872,969	M1V	probably null	Het
Rps6ka5	T	C	12: 100,619,615	T140A	possibly damaging	Het
Sbno2	T	A	10: 80,057,856	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,675,262	I68N	probably damaging	Het
Slc35a5	A	G	16: 45,144,265	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,760,946	S93W	probably damaging	Het
Smc1b	A	G	15: 85,121,851		probably benign	Het
Spag1	T	C	15: 36,227,141	L648P	probably damaging	Het
Tagap1	T	C	17: 6,956,703	D198G	probably benign	Het
Tedc2	T	C	17: 24,217,900	E287G	probably damaging	Het
Tjp1	C	A	7: 65,312,921	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446		probably benign	Het
Ttc38	T	A	15: 85,838,727	D125E	probably benign	Het
Uggt1	C	T	1: 36,192,414	R490Q	probably null	Het
Uroc1	T	G	6: 90,344,114	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,777,193	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,676,687	L99V	probably damaging	Het
Vps13c	C	T	9: 67,950,289	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830	L932P	probably damaging	Het

Other mutations in Cenpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02421:Cenpb	APN	2	131179681	missense	probably damaging	1.00
R0183:Cenpb	UTSW	2	131178453	unclassified	probably benign
R1378:Cenpb	UTSW	2	131178310	unclassified	probably benign
R1934:Cenpb	UTSW	2	131179264	missense	probably benign
R2132:Cenpb	UTSW	2	131179306	missense	probably damaging	1.00
R4776:Cenpb	UTSW	2	131178183	unclassified	probably benign
R5056:Cenpb	UTSW	2	131178171	unclassified	probably benign
R5120:Cenpb	UTSW	2	131179818	missense	probably benign	0.00
R5617:Cenpb	UTSW	2	131179014	missense	probably damaging	0.99
R6297:Cenpb	UTSW	2	131178369	unclassified	probably benign
R6467:Cenpb	UTSW	2	131179557	missense	probably damaging	1.00
R6673:Cenpb	UTSW	2	131179245	missense	probably damaging	0.98
R6916:Cenpb	UTSW	2	131179624	missense	probably benign	0.04
R7102:Cenpb	UTSW	2	131178879	missense	probably damaging	0.99
R7888:Cenpb	UTSW	2	131179842	missense	probably damaging	0.99
R7971:Cenpb	UTSW	2	131179842	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCTCTTCCTGGACACTATAAC -3'
(R):5'- ATCCCTCAGGCTTGCAACTG -3'

Sequencing Primer
(F):5'- TTCCTGGACACTATAACCCCCAAAAC -3'
(R):5'- AGGCCCTGCACTTTGTG -3'

Posted On

2014-09-18