Incidental Mutation 'R9717:Cenpj'
ID 730565
Institutional Source Beutler Lab
Gene Symbol Cenpj
Ensembl Gene ENSMUSG00000064128
Gene Name centromere protein J
Synonyms 4932437H03Rik, Sas4
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9717 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 56764218-56812882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56790453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 532 (E532G)
Ref Sequence ENSEMBL: ENSMUSP00000065949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065302] [ENSMUST00000225951]
AlphaFold Q569L8
Predicted Effect probably benign
Transcript: ENSMUST00000065302
AA Change: E532G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: E532G

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: E532G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000229861
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,668,900 (GRCm39) N2552I probably damaging Het
Amph G T 13: 19,309,253 (GRCm39) A444S probably benign Het
Ankrd52 A G 10: 128,216,457 (GRCm39) N157S probably benign Het
Arhgap29 T C 3: 121,797,920 (GRCm39) F537L probably benign Het
Asic1 A C 15: 99,590,657 (GRCm39) T136P probably damaging Het
Atg2b T C 12: 105,605,561 (GRCm39) Y1468C probably benign Het
Atm A G 9: 53,427,817 (GRCm39) L431P probably damaging Het
Atosb T C 4: 43,036,050 (GRCm39) H227R probably damaging Het
Btaf1 A G 19: 36,922,646 (GRCm39) T17A probably benign Het
Car10 A G 11: 93,195,367 (GRCm39) N58S probably benign Het
Cd79b A T 11: 106,202,845 (GRCm39) D252E probably damaging Het
Cdipt C T 7: 126,576,202 (GRCm39) probably benign Het
Cebpe T C 14: 54,949,165 (GRCm39) D84G probably damaging Het
Cherp A G 8: 73,216,920 (GRCm39) probably null Het
Chuk T C 19: 44,071,109 (GRCm39) D532G possibly damaging Het
Clec1b C T 6: 129,374,603 (GRCm39) T9I probably benign Het
Clspn G T 4: 126,458,756 (GRCm39) A280S possibly damaging Het
Cts3 T G 13: 61,712,799 (GRCm39) Y307S probably benign Het
Cyp2c39 T C 19: 39,556,493 (GRCm39) M443T possibly damaging Het
Dhx57 C T 17: 80,582,447 (GRCm39) R386H probably damaging Het
Dhx58 A T 11: 100,592,133 (GRCm39) M305K probably benign Het
Dlgap3 T C 4: 127,129,287 (GRCm39) L894P probably damaging Het
Dnah3 A T 7: 119,574,299 (GRCm39) N2164K probably damaging Het
Dnajb14 A G 3: 137,608,044 (GRCm39) N183S probably benign Het
Drd5 G T 5: 38,478,090 (GRCm39) R361L probably damaging Het
Duoxa1 T C 2: 122,135,622 (GRCm39) E159G probably damaging Het
Exoc1 T A 5: 76,711,079 (GRCm39) S659R probably benign Het
Fbln7 T C 2: 128,719,314 (GRCm39) I37T probably benign Het
Fcgrt T G 7: 44,744,853 (GRCm39) E205A possibly damaging Het
Fcho2 A T 13: 98,900,202 (GRCm39) S304T probably damaging Het
Gbp9 C A 5: 105,253,587 (GRCm39) G43* probably null Het
Gucy2d A G 7: 98,123,868 (GRCm39) K151R probably benign Het
Heatr4 T A 12: 84,024,829 (GRCm39) I331F probably damaging Het
Hmcn1 G A 1: 150,485,378 (GRCm39) T4408I probably damaging Het
Hoxc9 C T 15: 102,890,551 (GRCm39) T156M probably benign Het
Hrnr A T 3: 93,227,987 (GRCm39) E35V probably damaging Het
Idua C T 5: 108,818,037 (GRCm39) Q70* probably null Het
Klf5 A T 14: 99,539,189 (GRCm39) I201F probably damaging Het
Lonrf1 T C 8: 36,701,164 (GRCm39) K349E probably damaging Het
Lrp1b A T 2: 41,158,395 (GRCm39) D1721E Het
Mdh1 T A 11: 21,521,870 (GRCm39) probably benign Het
Mllt11 T C 3: 95,127,521 (GRCm39) H83R probably benign Het
Mrgprb4 A C 7: 47,848,583 (GRCm39) I115S possibly damaging Het
Mrpl38 A G 11: 116,023,296 (GRCm39) F319S probably damaging Het
Naif1 A T 2: 32,344,907 (GRCm39) M204L probably benign Het
Ncan T A 8: 70,554,628 (GRCm39) D1063V probably damaging Het
Noto A T 6: 85,401,327 (GRCm39) R119W possibly damaging Het
Or4c115 G A 2: 88,927,573 (GRCm39) L233F probably benign Het
Or51h7 A T 7: 102,591,165 (GRCm39) D206E probably damaging Het
Or6c69 T A 10: 129,748,048 (GRCm39) Y33F probably damaging Het
Or8b3 A T 9: 38,314,841 (GRCm39) I224F probably damaging Het
Ovch2 A G 7: 107,393,584 (GRCm39) W181R probably damaging Het
Palm G C 10: 79,655,117 (GRCm39) G292R probably damaging Het
Pdgfrb T A 18: 61,205,787 (GRCm39) L591* probably null Het
Pik3c2g T C 6: 139,841,910 (GRCm39) S772P Het
Prx C A 7: 27,217,411 (GRCm39) D776E probably benign Het
Ptpra A G 2: 130,384,366 (GRCm39) E562G possibly damaging Het
Rbm4b A G 19: 4,807,359 (GRCm39) Y25C probably damaging Het
Reln T C 5: 22,136,427 (GRCm39) T2534A probably benign Het
Rnf123 T C 9: 107,954,963 (GRCm39) S14G probably benign Het
Rock2 A G 12: 17,015,602 (GRCm39) H833R probably benign Het
Rxfp3 A G 15: 11,037,111 (GRCm39) V87A possibly damaging Het
S100b G A 10: 76,092,936 (GRCm39) G23D probably damaging Het
Scn9a T A 2: 66,357,002 (GRCm39) M1100L probably benign Het
Septin11 T A 5: 93,296,266 (GRCm39) S55T possibly damaging Het
Speer4a3 T C 5: 26,154,829 (GRCm39) E257G probably damaging Het
Sv2b T A 7: 74,769,676 (GRCm39) Q622L probably benign Het
Taar7a T C 10: 23,868,799 (GRCm39) D194G probably benign Het
Trappc3 T C 4: 126,169,014 (GRCm39) I168T probably benign Het
Trim27 T C 13: 21,374,296 (GRCm39) probably null Het
Wdr49 G A 3: 75,304,359 (GRCm39) T109I probably benign Het
Wdr64 T C 1: 175,544,854 (GRCm39) Y96H probably damaging Het
Zfp219 A T 14: 52,247,049 (GRCm39) L26Q probably damaging Het
Zfp758 T A 17: 22,593,829 (GRCm39) V105D possibly damaging Het
Zfp975 C G 7: 42,312,332 (GRCm39) E94Q possibly damaging Het
Zfyve9 C T 4: 108,539,334 (GRCm39) A289T probably benign Het
Zscan5b T C 7: 6,234,525 (GRCm39) S184P possibly damaging 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
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
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'- GTAGAAGACAGCCTGTGACC -3'
(R):5'- ATGGACAGTTTAGACACCAGG -3'

Sequencing Primer
(F):5'- TGTGACCGTCGCAGATCTG -3'
(R):5'- CACCAGGTCAAAGGAGAACG -3'
Posted On 2022-10-06