Incidental Mutation 'R1378:Cenpb'
ID 162930
Institutional Source Beutler Lab
Gene Symbol Cenpb
Ensembl Gene ENSMUSG00000068267
Gene Name centromere protein B
Synonyms
MMRRC Submission 039442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # R1378 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 131019209-131021974 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 131020230 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: E523K
SMART Domains Protein: ENSMUSP00000086938
Gene: ENSMUSG00000068267
AA Change: E523K

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 0.1862 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 100% (57/57)
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
Afap1 A G 5: 36,126,030 (GRCm39) T342A probably damaging Het
Alg1 A G 16: 5,061,580 (GRCm39) N406D probably damaging Het
Atp13a4 A T 16: 29,239,246 (GRCm39) M825K probably damaging Het
Birc6 T A 17: 74,967,450 (GRCm39) I4117K probably damaging Het
Brinp2 A T 1: 158,074,624 (GRCm39) L499Q possibly damaging Het
Brwd1 A T 16: 95,842,570 (GRCm39) V789D probably benign Het
Ccdc153 C G 9: 44,154,958 (GRCm39) L94V probably null Het
Ccna1 A G 3: 54,957,150 (GRCm39) V237A probably damaging Het
Cct7 T A 6: 85,444,545 (GRCm39) probably null Het
Chrne T A 11: 70,505,956 (GRCm39) probably null Het
Clstn3 T A 6: 124,415,378 (GRCm39) D662V probably damaging Het
Clu G T 14: 66,212,350 (GRCm39) C189F probably damaging Het
Cstdc5 A G 16: 36,179,929 (GRCm39) C63R probably benign Het
Cul7 C T 17: 46,973,052 (GRCm39) R1388C probably damaging Het
Dgka T C 10: 128,571,696 (GRCm39) probably null Het
Dop1b A G 16: 93,567,280 (GRCm39) T1236A probably benign Het
Edn2 A G 4: 120,019,095 (GRCm39) E28G probably benign Het
Elp3 T C 14: 65,830,380 (GRCm39) I24V probably benign Het
Faap24 T C 7: 35,092,326 (GRCm39) E197G probably benign Het
Fam13a T A 6: 58,933,736 (GRCm39) M285L probably benign Het
Gm9944 T A 4: 144,179,773 (GRCm39) probably benign Het
Gsdmc3 T C 15: 63,731,435 (GRCm39) probably benign Het
Gvin3 T A 7: 106,201,373 (GRCm39) I624F probably damaging Het
Ift22 A C 5: 136,941,757 (GRCm39) K133T probably benign Het
Il23r T A 6: 67,429,394 (GRCm39) K316I possibly damaging Het
Klra17 T A 6: 129,842,647 (GRCm39) E217V probably damaging Het
Nell2 A T 15: 95,130,402 (GRCm39) V657E probably damaging Het
Nlrp4d C A 7: 10,098,111 (GRCm39) K850N probably benign Het
Nsmce4a C T 7: 130,139,900 (GRCm39) R276Q probably benign Het
Or10d4 T C 9: 39,580,962 (GRCm39) L203P probably damaging Het
Or4p8 T A 2: 88,727,370 (GRCm39) R190S probably benign Het
Or52s1b T C 7: 102,822,475 (GRCm39) D123G probably damaging Het
Or52z14 A T 7: 103,253,145 (GRCm39) R95* probably null Het
Pclo T C 5: 14,732,327 (GRCm39) S3610P probably benign Het
Pon3 T G 6: 5,230,813 (GRCm39) D238A probably benign Het
Ppp4r4 T C 12: 103,547,751 (GRCm39) probably benign Het
Rad18 T C 6: 112,658,297 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,723,711 (GRCm39) Y1652C probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Sel1l T C 12: 91,799,871 (GRCm39) probably null Het
Soat1 A G 1: 156,294,352 (GRCm39) probably benign Het
Tex15 A T 8: 34,065,244 (GRCm39) N1558I probably damaging Het
Tmem132d A T 5: 128,346,011 (GRCm39) F170L probably benign Het
Tro G T X: 149,438,567 (GRCm39) P30Q probably damaging Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Unc45b G A 11: 82,827,678 (GRCm39) S725N probably benign Het
Vmn2r7 A G 3: 64,599,025 (GRCm39) S511P possibly damaging Het
Vps35l G T 7: 118,393,795 (GRCm39) E515* probably null Het
Vps35l A T 7: 118,393,796 (GRCm39) E515V probably damaging Het
Zfp174 G A 16: 3,667,353 (GRCm39) E181K 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
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'- GTGGACCAGATCGTGTTCC -3'
(R):5'- gagggagaggaagaggagg -3'
Posted On 2014-03-17