Incidental Mutation 'IGL02647:Cenpj'
ID 301983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpj
Ensembl Gene ENSMUSG00000064128
Gene Name centromere protein J
Synonyms 4932437H03Rik, Sas4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02647
Quality Score
Status
Chromosome 14
Chromosomal Location 56764218-56812882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56767536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1203 (V1203M)
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: V1203M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: V1203M

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: V1203M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226026
Predicted Effect probably benign
Transcript: ENSMUST00000229861
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A T 14: 29,712,847 (GRCm39) R497W probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bmx T C X: 162,988,231 (GRCm39) E495G probably damaging Het
Cbx5 T C 15: 103,109,330 (GRCm39) probably null Het
Ces1b T C 8: 93,783,672 (GRCm39) H516R probably benign Het
D430041D05Rik T C 2: 104,078,611 (GRCm39) N1235S probably damaging Het
Depdc1a A T 3: 159,228,503 (GRCm39) K418N probably damaging Het
Dysf G A 6: 84,114,355 (GRCm39) V1215M probably damaging Het
Flacc1 T C 1: 58,709,613 (GRCm39) T181A probably benign Het
Foxf2 A T 13: 31,811,218 (GRCm39) N386Y probably damaging Het
Frem1 A T 4: 82,919,991 (GRCm39) V455E probably damaging Het
Fzd7 C A 1: 59,523,554 (GRCm39) P479Q probably damaging Het
Hnmt G A 2: 23,904,319 (GRCm39) S114F possibly damaging Het
Irf3 A G 7: 44,649,800 (GRCm39) N6S probably benign Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lrba A G 3: 86,267,038 (GRCm39) D1576G probably benign Het
Lsg1 A T 16: 30,404,370 (GRCm39) probably null Het
Mal2 T C 15: 54,451,833 (GRCm39) F85L probably damaging Het
Me2 A C 18: 73,930,974 (GRCm39) S106R probably benign Het
Med21 T C 6: 146,550,731 (GRCm39) S81P probably benign Het
Mos T C 4: 3,870,961 (GRCm39) Y285C probably damaging Het
Mtmr1 A G X: 70,436,939 (GRCm39) N256S probably damaging Het
Or7e174 T A 9: 20,012,505 (GRCm39) M150K probably benign Het
Prl3d2 A C 13: 27,309,999 (GRCm39) T155P probably benign Het
R3hdm2 C T 10: 127,295,353 (GRCm39) S240L probably damaging Het
Semp2l2a T C 8: 13,886,979 (GRCm39) T371A probably damaging Het
Skint6 A T 4: 112,985,088 (GRCm39) probably benign Het
Ubr5 A G 15: 37,992,326 (GRCm39) S1933P probably damaging Het
Veph1 A T 3: 66,066,869 (GRCm39) probably benign Het
Xpo7 A G 14: 70,922,905 (GRCm39) F557S probably damaging Het
Zfp647 T C 15: 76,801,915 (GRCm39) E30G probably damaging Het
Zfp655 A T 5: 145,179,816 (GRCm39) I75L probably benign Het
Zfp981 C A 4: 146,621,709 (GRCm39) Y211* probably null 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
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
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
Posted On 2015-04-16