Incidental Mutation 'R6673:Cenpb'
ID 527187
Institutional Source Beutler Lab
Gene Symbol Cenpb
Ensembl Gene ENSMUSG00000068267
Gene Name centromere protein B
Synonyms
MMRRC Submission 044793-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R6673 (G1)
Quality Score 204.009
Status Not validated
Chromosome 2
Chromosomal Location 131019209-131021974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131021165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 211 (L211H)
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

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 probably damaging
Transcript: ENSMUST00000089510
AA Change: L211H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086938
Gene: ENSMUSG00000068267
AA Change: L211H

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armh4 T A 14: 50,008,049 (GRCm39) M475L probably benign Het
Ckmt1 C T 2: 121,190,151 (GRCm39) P82S probably damaging Het
Cspg4b C T 13: 113,504,366 (GRCm39) Q1832* probably null Het
Fbxo38 A G 18: 62,666,986 (GRCm39) C138R probably damaging Het
Hkdc1 A G 10: 62,239,385 (GRCm39) V306A probably damaging Het
Mecom T C 3: 30,034,851 (GRCm39) N275S probably benign Het
Mpdz T C 4: 81,274,667 (GRCm39) D185G probably benign Het
Prtg T A 9: 72,758,964 (GRCm39) N439K probably damaging Het
Rsf1 GGCGGCGG GGCGGCGGGGGCGGCGG 7: 97,229,125 (GRCm39) probably benign Het
Serpina3b A G 12: 104,096,928 (GRCm39) N70D probably damaging Het
Shc1 T C 3: 89,329,269 (GRCm39) S38P possibly damaging Het
Slc13a2 T A 11: 78,288,657 (GRCm39) I540F probably benign Het
Tmem33 T C 5: 67,443,468 (GRCm39) V215A probably benign Het
Trappc8 A G 18: 21,018,314 (GRCm39) V53A probably benign Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Other mutations in Cenpb
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGACTCCACCCTTCGAGTTG -3'
(R):5'- ACTTCACTGCTTCCAACGGC -3'

Sequencing Primer
(F):5'- ACCCTTCGAGTTGGCAGTG -3'
(R):5'- TTCCAACGGCTGGCTGGATC -3'
Posted On 2018-07-23