Incidental Mutation 'R1889:Cenpj'
ID 209852
Institutional Source Beutler Lab
Gene Symbol Cenpj
Ensembl Gene ENSMUSG00000064128
Gene Name centromere protein J
Synonyms 4932437H03Rik, Sas4
MMRRC Submission 039910-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1889 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56764218-56812882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56796182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 225 (V225A)
Ref Sequence ENSEMBL: ENSMUSP00000153013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065302] [ENSMUST00000225951]
AlphaFold Q569L8
Predicted Effect probably benign
Transcript: ENSMUST00000065302
AA Change: V225A

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: V225A

DomainStartEndE-ValueType
low complexity region 60 76 N/A INTRINSIC
coiled coil region 140 185 N/A INTRINSIC
low complexity region 330 350 N/A INTRINSIC
low complexity region 547 570 N/A INTRINSIC
low complexity region 860 871 N/A INTRINSIC
coiled coil region 899 1046 N/A INTRINSIC
low complexity region 1144 1154 N/A INTRINSIC
Pfam:Tcp10_C 1167 1342 5.1e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225951
AA Change: V225A

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.2%
  • 10x: 93.6%
  • 20x: 88.0%
Validation Efficiency 97% (103/106)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for null alleles exhibit embryonic lethality during early organogenesis and may show failure of embryo turning and absence of centrioles, cilia and centrosomes. Mice homozygous for a hypomorphic allele display partial lethality, dwarfism and a wide range of abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,034,815 (GRCm39) noncoding transcript Het
9130008F23Rik T C 17: 41,191,193 (GRCm39) R79G probably damaging Het
Aco1 A T 4: 40,164,607 (GRCm39) probably null Het
Acp6 C T 3: 97,073,201 (GRCm39) R81W probably damaging Het
Agbl1 A C 7: 76,239,129 (GRCm39) Y543S probably damaging Het
Anapc7 T C 5: 122,571,539 (GRCm39) W205R probably damaging Het
Ap1g2 T A 14: 55,338,886 (GRCm39) M532L probably damaging Het
Appl1 A G 14: 26,647,470 (GRCm39) probably benign Het
Arhgef19 T C 4: 140,976,624 (GRCm39) F462S probably damaging Het
Astn1 A G 1: 158,332,886 (GRCm39) probably null Het
AU015836 T C X: 93,012,985 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cadm2 T C 16: 66,679,683 (GRCm39) D50G probably damaging Het
Ccdc81 G A 7: 89,531,502 (GRCm39) Q324* probably null Het
Cd300lf A G 11: 115,011,206 (GRCm39) V178A probably benign Het
Cdt1 T C 8: 123,298,791 (GRCm39) V476A possibly damaging Het
Cep295 T C 9: 15,243,399 (GRCm39) T1686A possibly damaging Het
Cfap54 A G 10: 92,870,572 (GRCm39) S684P possibly damaging Het
Clip1 C A 5: 123,791,559 (GRCm39) V204F probably damaging Het
Cnpy4 A G 5: 138,191,102 (GRCm39) E226G probably benign Het
Col6a3 T A 1: 90,731,433 (GRCm39) M1000L probably benign Het
Cpsf1 T C 15: 76,486,356 (GRCm39) M335V probably benign Het
Dnmt3b C A 2: 153,518,679 (GRCm39) A614E probably benign Het
Dpm1 C T 2: 168,059,655 (GRCm39) R147Q possibly damaging Het
Dpp7 G T 2: 25,243,691 (GRCm39) probably null Het
Engase T C 11: 118,369,759 (GRCm39) F57S probably damaging Het
Epb41l5 T C 1: 119,476,902 (GRCm39) D718G possibly damaging Het
Fam20a T C 11: 109,564,380 (GRCm39) K458E probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gkn2 T A 6: 87,355,137 (GRCm39) Y115* probably null Het
Gtdc1 A G 2: 44,481,926 (GRCm39) S246P probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Herc2 C T 7: 55,839,561 (GRCm39) S3357L possibly damaging Het
Herc6 T A 6: 57,639,060 (GRCm39) Y840* probably null Het
Hoxa10 GGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTG 6: 52,211,472 (GRCm39) probably benign Het
Ift122 T C 6: 115,871,382 (GRCm39) probably null Het
Ilf3 T A 9: 21,316,063 (GRCm39) probably benign Het
Itgb2 A T 10: 77,384,457 (GRCm39) N193Y possibly damaging Het
Itgb5 T G 16: 33,730,839 (GRCm39) I65S probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Kcnt2 A T 1: 140,512,031 (GRCm39) H995L probably damaging Het
Kif20b T C 19: 34,918,608 (GRCm39) probably benign Het
Kif7 T C 7: 79,360,211 (GRCm39) Y342C probably damaging Het
Klhl21 T C 4: 152,099,877 (GRCm39) V529A possibly damaging Het
Klhl26 T C 8: 70,904,383 (GRCm39) D475G probably damaging Het
Lcor T C 19: 41,547,567 (GRCm39) Y384H probably damaging Het
Lrp1b A T 2: 40,809,179 (GRCm39) C2463* probably null Het
Marchf6 T C 15: 31,459,339 (GRCm39) E909G possibly damaging Het
Mrc1 A T 2: 14,313,488 (GRCm39) probably null Het
Mtrex T C 13: 113,024,024 (GRCm39) N707S probably benign Het
Nipal4 T A 11: 46,041,560 (GRCm39) I212F probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Nwd2 A G 5: 63,965,009 (GRCm39) E1531G possibly damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Opa1 T C 16: 29,444,403 (GRCm39) V863A possibly damaging Het
Or5ac22 T G 16: 59,135,326 (GRCm39) Y148S probably damaging Het
Pabpc4l A T 3: 46,400,798 (GRCm39) M282K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcnx3 T C 19: 5,722,684 (GRCm39) D1336G probably damaging Het
Phlpp1 T C 1: 106,246,580 (GRCm39) V590A possibly damaging Het
Rbck1 T A 2: 152,160,276 (GRCm39) T468S probably damaging Het
Ripor2 T A 13: 24,877,870 (GRCm39) I290N probably damaging Het
Rnf139 T C 15: 58,771,346 (GRCm39) L457P probably damaging Het
Rtn1 C A 12: 72,351,184 (GRCm39) A342S possibly damaging Het
Sema3d A G 5: 12,534,988 (GRCm39) probably null Het
Serpinb2 T A 1: 107,452,337 (GRCm39) V305D probably damaging Het
Sez6l2 T C 7: 126,552,668 (GRCm39) V148A probably damaging Het
Shank2 C A 7: 143,740,595 (GRCm39) S568* probably null Het
Slc10a4 T C 5: 73,169,490 (GRCm39) S372P possibly damaging Het
Slc10a5 T C 3: 10,400,550 (GRCm39) T37A probably benign Het
Slc14a1 T C 18: 78,152,912 (GRCm39) I276V possibly damaging Het
Slc6a20b G T 9: 123,461,269 (GRCm39) D52E probably benign Het
Slc6a5 T C 7: 49,601,182 (GRCm39) M661T probably benign Het
Ssh2 C G 11: 77,340,571 (GRCm39) D574E probably damaging Het
Steap4 G T 5: 8,025,892 (GRCm39) R151L probably damaging Het
Sun5 T A 2: 153,707,915 (GRCm39) I107L probably benign Het
Tacc1 C T 8: 25,665,269 (GRCm39) V488M probably damaging Het
Tgs1 A G 4: 3,614,928 (GRCm39) T829A probably benign Het
Tnxb A G 17: 34,914,799 (GRCm39) E1929G probably damaging Het
Tssc4 A C 7: 142,624,292 (GRCm39) Q200P probably damaging Het
Ttn A G 2: 76,588,876 (GRCm39) W21398R probably damaging Het
Usp50 C T 2: 126,619,818 (GRCm39) probably null Het
Usp9y A T Y: 1,448,829 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,632 (GRCm39) F33I probably benign Het
Zfat T C 15: 67,973,388 (GRCm39) T1118A probably benign Het
Other mutations in Cenpj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Cenpj APN 14 56,790,487 (GRCm39) missense probably benign 0.04
IGL00969:Cenpj APN 14 56,802,420 (GRCm39) missense possibly damaging 0.68
IGL01152:Cenpj APN 14 56,789,757 (GRCm39) missense probably benign 0.01
IGL01475:Cenpj APN 14 56,802,502 (GRCm39) missense possibly damaging 0.80
IGL01548:Cenpj APN 14 56,769,776 (GRCm39) missense probably benign 0.00
IGL01893:Cenpj APN 14 56,790,931 (GRCm39) missense probably damaging 1.00
IGL02647:Cenpj APN 14 56,767,536 (GRCm39) missense probably damaging 0.99
IGL02683:Cenpj APN 14 56,790,409 (GRCm39) missense possibly damaging 0.88
IGL02691:Cenpj APN 14 56,789,547 (GRCm39) missense probably benign 0.28
IGL03008:Cenpj APN 14 56,764,406 (GRCm39) missense probably benign 0.39
R0206:Cenpj UTSW 14 56,801,427 (GRCm39) missense probably benign 0.00
R0208:Cenpj UTSW 14 56,801,427 (GRCm39) missense probably benign 0.00
R0356:Cenpj UTSW 14 56,786,953 (GRCm39) missense probably damaging 1.00
R0942:Cenpj UTSW 14 56,792,666 (GRCm39) unclassified probably benign
R1392:Cenpj UTSW 14 56,772,311 (GRCm39) splice site probably benign
R1564:Cenpj UTSW 14 56,789,523 (GRCm39) missense probably benign 0.43
R1671:Cenpj UTSW 14 56,802,502 (GRCm39) missense probably damaging 0.99
R2059:Cenpj UTSW 14 56,801,412 (GRCm39) missense possibly damaging 0.94
R2140:Cenpj UTSW 14 56,764,389 (GRCm39) missense probably damaging 1.00
R2509:Cenpj UTSW 14 56,769,694 (GRCm39) missense probably null 0.98
R2866:Cenpj UTSW 14 56,789,637 (GRCm39) missense probably benign 0.01
R3813:Cenpj UTSW 14 56,790,679 (GRCm39) missense probably benign 0.05
R4620:Cenpj UTSW 14 56,772,911 (GRCm39) missense probably damaging 0.99
R4670:Cenpj UTSW 14 56,790,840 (GRCm39) missense possibly damaging 0.80
R4671:Cenpj UTSW 14 56,790,840 (GRCm39) missense possibly damaging 0.80
R4765:Cenpj UTSW 14 56,787,002 (GRCm39) nonsense probably null
R4915:Cenpj UTSW 14 56,791,175 (GRCm39) missense probably damaging 0.98
R4930:Cenpj UTSW 14 56,772,238 (GRCm39) nonsense probably null
R5088:Cenpj UTSW 14 56,791,148 (GRCm39) missense probably damaging 1.00
R5523:Cenpj UTSW 14 56,789,880 (GRCm39) missense probably benign 0.00
R5527:Cenpj UTSW 14 56,764,440 (GRCm39) missense probably damaging 1.00
R5717:Cenpj UTSW 14 56,790,978 (GRCm39) frame shift probably null
R5944:Cenpj UTSW 14 56,791,115 (GRCm39) critical splice donor site probably null
R5975:Cenpj UTSW 14 56,801,523 (GRCm39) missense possibly damaging 0.92
R6019:Cenpj UTSW 14 56,772,272 (GRCm39) missense probably benign 0.01
R6291:Cenpj UTSW 14 56,789,433 (GRCm39) missense probably benign 0.01
R6948:Cenpj UTSW 14 56,790,683 (GRCm39) missense probably damaging 0.96
R7212:Cenpj UTSW 14 56,790,109 (GRCm39) missense probably benign 0.00
R7461:Cenpj UTSW 14 56,764,501 (GRCm39) nonsense probably null
R7613:Cenpj UTSW 14 56,764,501 (GRCm39) nonsense probably null
R7634:Cenpj UTSW 14 56,780,257 (GRCm39) missense probably benign 0.00
R7837:Cenpj UTSW 14 56,796,185 (GRCm39) missense probably benign 0.02
R8722:Cenpj UTSW 14 56,772,975 (GRCm39) missense probably damaging 1.00
R8810:Cenpj UTSW 14 56,796,076 (GRCm39) missense possibly damaging 0.78
R8813:Cenpj UTSW 14 56,790,355 (GRCm39) missense probably damaging 1.00
R8842:Cenpj UTSW 14 56,780,329 (GRCm39) missense probably damaging 0.97
R8916:Cenpj UTSW 14 56,790,352 (GRCm39) missense probably damaging 1.00
R8987:Cenpj UTSW 14 56,764,383 (GRCm39) missense possibly damaging 0.75
R9128:Cenpj UTSW 14 56,780,319 (GRCm39) missense probably damaging 1.00
R9227:Cenpj UTSW 14 56,802,176 (GRCm39) missense possibly damaging 0.51
R9229:Cenpj UTSW 14 56,802,176 (GRCm39) missense possibly damaging 0.51
R9624:Cenpj UTSW 14 56,802,387 (GRCm39) missense probably benign 0.01
R9686:Cenpj UTSW 14 56,790,048 (GRCm39) missense probably benign 0.01
R9717:Cenpj UTSW 14 56,790,453 (GRCm39) missense probably benign 0.02
RF007:Cenpj UTSW 14 56,767,505 (GRCm39) critical splice donor site probably null
Z1177:Cenpj UTSW 14 56,790,336 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- TGGCCCTTGTCTTAGGACTAC -3'
(R):5'- TTGTGGGATGAAGGATCACTAC -3'

Sequencing Primer
(F):5'- GTCTTAGGACTACTCGATAACTCAG -3'
(R):5'- CCGGAGATTTAACTCTGC -3'
Posted On 2014-06-30