Mutagenetix > Incidental Mutation

Incidental Mutation 'R1934:Cenpb'

215647

Institutional Source

Beutler Lab

Gene Symbol

Cenpb

Ensembl Gene

ENSMUSG00000068267

Gene Name

centromere protein B

Synonyms

MMRRC Submission

039952-MU

Accession Numbers

Essential gene?

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

Stock #

R1934 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

131019209-131021974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131021184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 205 (S205P)

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 benign
Transcript: ENSMUST00000089510
AA Change: S205P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086938
Gene: ENSMUSG00000068267
AA Change: S205P

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,626,792 (GRCm39)	L548P	probably damaging	Het
Abca6	A	G	11: 110,100,909 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,871,235 (GRCm39)		probably null	Het
Acacb	G	A	5: 114,336,343 (GRCm39)	A686T	probably benign	Het
Acot6	T	C	12: 84,153,367 (GRCm39)	V203A	probably benign	Het
Adam25	A	T	8: 41,207,922 (GRCm39)	Y396F	probably benign	Het
Adamts9	A	G	6: 92,920,102 (GRCm39)	L12P	possibly damaging	Het
Adamtsl2	A	T	2: 26,979,605 (GRCm39)	D258V	probably damaging	Het
Aox4	G	A	1: 58,285,095 (GRCm39)	V616I	probably benign	Het
Ap1m1	A	G	8: 73,009,637 (GRCm39)	I382V	probably damaging	Het
Arhgef2	G	A	3: 88,537,098 (GRCm39)	R8Q	probably damaging	Het
Arhgef37	T	G	18: 61,657,014 (GRCm39)	E17A	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Arih1	T	C	9: 59,302,215 (GRCm39)	D431G	probably damaging	Het
Astn2	C	T	4: 65,353,426 (GRCm39)	V1115M	probably damaging	Het
Atg7	T	A	6: 114,678,196 (GRCm39)	M280K	probably damaging	Het
Birc2	T	C	9: 7,854,500 (GRCm39)	T397A	possibly damaging	Het
Ccdc110	A	G	8: 46,396,287 (GRCm39)	N726S	probably damaging	Het
Cdadc1	A	T	14: 59,827,309 (GRCm39)	S121T	possibly damaging	Het
Cdh16	A	G	8: 105,344,595 (GRCm39)	V7A	possibly damaging	Het
Chsy1	T	C	7: 65,821,991 (GRCm39)	V742A	probably damaging	Het
Col12a1	G	A	9: 79,511,804 (GRCm39)	R133*	probably null	Het
Col18a1	A	C	10: 76,948,578 (GRCm39)	S311R	possibly damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Coq2	T	A	5: 100,809,731 (GRCm39)	R17S	probably damaging	Het
Ctf1	A	G	7: 127,311,936 (GRCm39)	R4G	probably damaging	Het
Cwc27	T	C	13: 104,768,184 (GRCm39)	D437G	probably benign	Het
Cyp4f14	T	C	17: 33,125,289 (GRCm39)	N430D	probably damaging	Het
Dars2	A	G	1: 160,890,811 (GRCm39)		probably null	Het
Dgkz	A	T	2: 91,767,449 (GRCm39)	M848K	possibly damaging	Het
Dnhd1	T	G	7: 105,357,789 (GRCm39)	V3208G	probably benign	Het
Dsg1b	A	G	18: 20,528,963 (GRCm39)	Y233C	probably damaging	Het
Edem3	A	T	1: 151,680,034 (GRCm39)	D460V	probably damaging	Het
Ednra	A	G	8: 78,415,747 (GRCm39)	S167P	possibly damaging	Het
Eif3m	A	T	2: 104,831,624 (GRCm39)	V180D	probably damaging	Het
Fam217a	T	A	13: 35,094,864 (GRCm39)	R207S	probably damaging	Het
Fcgbp	G	A	7: 27,806,518 (GRCm39)	G2162D	probably damaging	Het
Fhod3	A	T	18: 25,223,335 (GRCm39)	I894F	probably benign	Het
Fpgs	A	T	2: 32,577,993 (GRCm39)	I143N	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,152 (GRCm39)	S70P	probably benign	Het
Frs2	T	C	10: 116,914,806 (GRCm39)	M38V	probably damaging	Het
Fsip2	A	G	2: 82,810,902 (GRCm39)	N2407S	possibly damaging	Het
Gabrg2	T	A	11: 41,811,297 (GRCm39)	T283S	probably benign	Het
Gas2l1	T	A	11: 5,011,408 (GRCm39)	T474S	probably benign	Het
Gli1	A	T	10: 127,167,108 (GRCm39)	M715K	possibly damaging	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5800	T	A	14: 51,949,396 (GRCm39)	N183I	possibly damaging	Het
Gm8674	T	A	13: 50,055,471 (GRCm39)		noncoding transcript	Het
Gnat3	A	T	5: 18,224,508 (GRCm39)	I303F	possibly damaging	Het
Grin2d	C	T	7: 45,506,251 (GRCm39)	V547M	probably damaging	Het
Grpr	C	A	X: 162,332,137 (GRCm39)	V53L	probably benign	Het
Heatr5b	T	C	17: 79,103,347 (GRCm39)	I1169V	possibly damaging	Het
Icam5	A	G	9: 20,946,082 (GRCm39)	T305A	probably benign	Het
Itga11	T	A	9: 62,651,796 (GRCm39)	N309K	probably damaging	Het
Itgb6	T	C	2: 60,499,493 (GRCm39)	D100G	probably benign	Het
Kdm3b	A	G	18: 34,946,597 (GRCm39)	K862R	probably benign	Het
Kif7	T	C	7: 79,361,286 (GRCm39)	D135G	probably benign	Het
Lrp4	A	G	2: 91,310,777 (GRCm39)	D606G	probably damaging	Het
Lrrtm1	A	T	6: 77,221,949 (GRCm39)		probably null	Het
Metap1d	A	T	2: 71,352,927 (GRCm39)	H252L	possibly damaging	Het
Mfhas1	A	G	8: 36,058,251 (GRCm39)	K909E	possibly damaging	Het
Mrgprh	C	T	17: 13,095,838 (GRCm39)	T26I	probably damaging	Het
Myo15b	T	C	11: 115,754,310 (GRCm39)	S937P	probably benign	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nod2	T	C	8: 89,390,347 (GRCm39)	I196T	probably benign	Het
Nvl	T	G	1: 180,926,693 (GRCm39)	T788P	probably damaging	Het
Or13a25	C	A	7: 140,247,951 (GRCm39)	C243*	probably null	Het
Or2h2	A	T	17: 37,396,906 (GRCm39)	D50E	possibly damaging	Het
Pax3	G	A	1: 78,080,117 (GRCm39)	T423I	possibly damaging	Het
Pde4dip	A	G	3: 97,600,007 (GRCm39)	V2403A	possibly damaging	Het
Phip	C	T	9: 82,785,235 (GRCm39)	V827I	probably benign	Het
Plcb3	A	G	19: 6,941,977 (GRCm39)	F285L	probably damaging	Het
Pnp2	A	G	14: 51,193,675 (GRCm39)	I16V	probably benign	Het
Pola2	A	G	19: 6,003,769 (GRCm39)	L202P	probably damaging	Het
Ppfia1	A	T	7: 144,058,847 (GRCm39)	N651K	probably benign	Het
Prss53	T	C	7: 127,485,920 (GRCm39)		probably null	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Rasgrf2	A	T	13: 92,131,825 (GRCm39)		probably null	Het
Rccd1	T	A	7: 79,970,272 (GRCm39)	N115I	possibly damaging	Het
Rpgrip1	A	T	14: 52,352,101 (GRCm39)	T26S	possibly damaging	Het
Rpn1	T	A	6: 88,070,841 (GRCm39)	V237E	probably damaging	Het
Sema4f	G	T	6: 82,907,908 (GRCm39)	P180Q	probably damaging	Het
Slc36a4	T	C	9: 15,632,085 (GRCm39)	V87A	probably damaging	Het
Slc5a4b	A	T	10: 75,917,307 (GRCm39)	V243E	possibly damaging	Het
Sos2	T	G	12: 69,695,315 (GRCm39)	I141L	probably damaging	Het
Srbd1	A	G	17: 86,410,321 (GRCm39)	V537A	probably damaging	Het
Sugp1	A	G	8: 70,509,225 (GRCm39)	E166G	possibly damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tshr	T	C	12: 91,503,955 (GRCm39)	S298P	probably damaging	Het
Tspan14	T	C	14: 40,656,209 (GRCm39)	Y6C	probably damaging	Het
Ttn	A	T	2: 76,577,384 (GRCm39)	V24503E	probably damaging	Het
Vcan	T	A	13: 89,851,045 (GRCm39)	N1305I	probably damaging	Het
Vmn2r81	A	G	10: 79,083,628 (GRCm39)	M1V	probably null	Het
Vps39	A	T	2: 120,148,558 (GRCm39)	V873E	probably damaging	Het
Vstm2a	A	T	11: 16,359,734 (GRCm39)	D270V	unknown	Het
Wdr24	A	T	17: 26,043,240 (GRCm39)	M21L	possibly damaging	Het
Wee1	A	G	7: 109,721,698 (GRCm39)	T48A	probably benign	Het
Zfp369	T	C	13: 65,444,965 (GRCm39)	C703R	probably damaging	Het
Zfp532	A	T	18: 65,818,682 (GRCm39)	D1114V	probably damaging	Het
Zfp758	A	G	17: 22,592,633 (GRCm39)	T46A	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
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
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'- CCTTCGAGTTGGCAGTGTAG -3'
(R):5'- ACGACTTCACTGCTTCCAACG -3'

Sequencing Primer
(F):5'- TGTAGTCGCAGGGCAGAC -3'
(R):5'- TTCCAACGGCTGGCTGGATC -3'

Posted On

2014-07-14