Incidental Mutation 'R0356:Cenpj'
ID 29842
Institutional Source Beutler Lab
Gene Symbol Cenpj
Ensembl Gene ENSMUSG00000064128
Gene Name centromere protein J
Synonyms 4932437H03Rik, Sas4
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0356 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56764218-56812882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56786953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 917 (E917G)
Ref Sequence ENSEMBL: ENSMUSP00000153013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065302] [ENSMUST00000225951]
AlphaFold Q569L8
Predicted Effect probably damaging
Transcript: ENSMUST00000065302
AA Change: E917G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: E917G

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 damaging
Transcript: ENSMUST00000225951
AA Change: E917G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000229861
AA Change: E208G
Meta Mutation Damage Score 0.1413 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A 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
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
R1889:Cenpj UTSW 14 56,796,182 (GRCm39) missense probably benign 0.43
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'- GGGACTTCAGCCTTCCAGCTTC -3'
(R):5'- TGGTTCCGTGGCAAACCTTCTTG -3'

Sequencing Primer
(F):5'- aacttctgatgctcctgcc -3'
(R):5'- GCAAACCTTCTTGGCTGTTG -3'
Posted On 2013-04-24