Incidental Mutation 'R0183:Cenpb'
ID 23858
Institutional Source Beutler Lab
Gene Symbol Cenpb
Ensembl Gene ENSMUSG00000068267
Gene Name centromere protein B
Synonyms
MMRRC Submission 038448-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # R0183 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 131019209-131021974 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 131020373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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

DomainStartEndE-ValueType
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: D475G
SMART Domains Protein: ENSMUSP00000086938
Gene: ENSMUSG00000068267
AA Change: D475G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:CH_2 7 103 1.7e-36 PFAM
Pfam:CAMSAP_CH 8 90 6e-24 PFAM
Meta Mutation Damage Score 0.0632 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 84% (42/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C T 5: 77,034,082 (GRCm39) D490N probably benign Het
Aatf A T 11: 84,401,251 (GRCm39) probably null Het
Amer3 T A 1: 34,626,838 (GRCm39) I359K probably damaging Het
Appl1 A T 14: 26,684,811 (GRCm39) D79E probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Baz1a T A 12: 54,958,172 (GRCm39) E1026D probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Card14 C T 11: 119,217,524 (GRCm39) R386C probably damaging Het
Clcn4 G A 7: 7,298,090 (GRCm39) Q40* probably null Het
Clec16a T C 16: 10,377,886 (GRCm39) Y28H probably damaging Het
Cul4a T C 8: 13,183,790 (GRCm39) S393P probably damaging Het
Dcbld2 A G 16: 58,265,722 (GRCm39) D194G possibly damaging Het
Dnah6 C T 6: 73,059,906 (GRCm39) V2841I probably damaging Het
Eaf1 T A 14: 31,217,272 (GRCm39) L16Q probably damaging Het
Eef1e1 C T 13: 38,840,162 (GRCm39) A48T probably damaging Het
Exoc3l C A 8: 106,021,932 (GRCm39) R57L probably damaging Het
Faf1 A G 4: 109,792,807 (GRCm39) N593S probably benign Het
Fosb A G 7: 19,041,310 (GRCm39) I61T probably damaging Het
Fstl5 A C 3: 76,229,579 (GRCm39) I127L possibly damaging Het
Gas2l2 T A 11: 83,319,882 (GRCm39) M125L probably benign Het
Gcnt1 C T 19: 17,306,481 (GRCm39) D415N probably benign Het
Gtpbp4 A G 13: 9,024,997 (GRCm39) M531T probably benign Het
Gucy1b2 T A 14: 62,656,589 (GRCm39) K256M probably damaging Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Jkamp T C 12: 72,140,809 (GRCm39) I118T possibly damaging Het
Kalrn A T 16: 33,991,749 (GRCm39) probably null Het
Kcnma1 A T 14: 23,558,120 (GRCm39) D317E probably damaging Het
Lipo2 A T 19: 33,726,951 (GRCm39) probably null Het
Lrig3 T A 10: 125,846,061 (GRCm39) I830K probably damaging Het
Map3k4 A G 17: 12,454,015 (GRCm39) I1429T probably damaging Het
Mkks G A 2: 136,722,606 (GRCm39) L184F probably benign Het
Mmp19 C T 10: 128,634,872 (GRCm39) T424I possibly damaging Het
Mrps23 A G 11: 88,100,980 (GRCm39) E57G probably damaging Het
Myh7 T C 14: 55,216,333 (GRCm39) T1282A probably benign Het
Or2y10 A G 11: 49,455,675 (GRCm39) D309G probably benign Het
Or8k1 T A 2: 86,047,173 (GRCm39) S294C probably damaging Het
Phf19 T C 2: 34,801,214 (GRCm39) N75S probably damaging Het
Pink1 T G 4: 138,041,490 (GRCm39) H477P probably damaging Het
Ppp6r2 G A 15: 89,169,990 (GRCm39) C835Y probably damaging Het
Prkcq T C 2: 11,257,973 (GRCm39) I295T probably damaging Het
Ptpn13 T C 5: 103,664,274 (GRCm39) S421P probably benign Het
Ptpn6 A G 6: 124,705,914 (GRCm39) S77P probably damaging Het
Ptpre G T 7: 135,271,574 (GRCm39) M389I probably benign Het
Ranbp9 T C 13: 43,578,599 (GRCm39) D158G probably damaging Het
Sec14l3 C T 11: 4,025,547 (GRCm39) S357L probably benign Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Spef2 A T 15: 9,716,445 (GRCm39) D323E possibly damaging Het
Taf2 T A 15: 54,919,186 (GRCm39) K396N possibly damaging Het
Tcf12 A T 9: 71,824,309 (GRCm39) V94E probably damaging Het
Trim24 T A 6: 37,920,415 (GRCm39) I404N possibly damaging Het
Other mutations in Cenpb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02421:Cenpb APN 2 131,021,601 (GRCm39) missense probably damaging 1.00
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
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'- CTGGCATGGTTCTTCCTAGTCACG -3'
(R):5'- CCCTCGGACATAGCAACTTGCTTTC -3'

Sequencing Primer
(F):5'- cctcatcaccatcctcatcatc -3'
(R):5'- gagggagaggaagaggagg -3'
Posted On 2013-04-16