Incidental Mutation 'IGL03083:Pcna'
ID 417944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcna
Ensembl Gene ENSMUSG00000027342
Gene Name proliferating cell nuclear antigen
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03083
Quality Score
Status
Chromosome 2
Chromosomal Location 132091206-132095100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132093673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 109 (E109K)
Ref Sequence ENSEMBL: ENSMUSP00000028817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028816] [ENSMUST00000028817] [ENSMUST00000110163] [ENSMUST00000110164] [ENSMUST00000180286]
AlphaFold P17918
Predicted Effect probably benign
Transcript: ENSMUST00000028816
SMART Domains Protein: ENSMUSP00000028816
Gene: ENSMUSG00000027341

DomainStartEndE-ValueType
Pfam:DUF872 14 118 5.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028817
AA Change: E109K

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028817
Gene: ENSMUSG00000027342
AA Change: E109K

DomainStartEndE-ValueType
Pfam:PCNA_N 1 125 1.4e-61 PFAM
Pfam:Rad1 1 236 2e-10 PFAM
Pfam:Rad9 12 245 1.3e-9 PFAM
Pfam:PCNA_C 127 254 8.2e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110163
SMART Domains Protein: ENSMUSP00000105792
Gene: ENSMUSG00000027341

DomainStartEndE-ValueType
Pfam:DUF872 14 118 5.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110164
SMART Domains Protein: ENSMUSP00000105793
Gene: ENSMUSG00000027341

DomainStartEndE-ValueType
Pfam:DUF872 14 118 5.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141813
Predicted Effect probably benign
Transcript: ENSMUST00000180286
SMART Domains Protein: ENSMUSP00000136826
Gene: ENSMUSG00000027341

DomainStartEndE-ValueType
Pfam:DUF872 3 118 1.7e-22 PFAM
Meta Mutation Damage Score 0.2269 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation due to defects in DNA replication. Mice homozygous for a knock-in allele show partial embryonic lethality during organogenesis, absent germ cells, infertility, and altered somatic hypermutation frequency. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, knock-out(1) Targeted, other(4) Gene trapped(2)

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T probably benign Het
Other mutations in Pcna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Pcna APN 2 132,093,852 (GRCm39) missense probably benign 0.12
IGL00839:Pcna APN 2 132,093,340 (GRCm39) missense probably benign 0.00
IGL01463:Pcna APN 2 132,093,349 (GRCm39) missense probably damaging 1.00
IGL02437:Pcna APN 2 132,093,155 (GRCm39) unclassified probably benign
IGL03084:Pcna APN 2 132,093,673 (GRCm39) missense probably benign 0.10
IGL03094:Pcna APN 2 132,093,673 (GRCm39) missense probably benign 0.10
IGL03124:Pcna APN 2 132,093,673 (GRCm39) missense probably benign 0.10
IGL03046:Pcna UTSW 2 132,093,673 (GRCm39) missense probably benign 0.10
NA:Pcna UTSW 2 132,091,804 (GRCm39) missense probably benign 0.01
R0722:Pcna UTSW 2 132,093,155 (GRCm39) unclassified probably benign
R1928:Pcna UTSW 2 132,093,817 (GRCm39) unclassified probably benign
R3857:Pcna UTSW 2 132,091,541 (GRCm39) missense probably benign 0.00
R7211:Pcna UTSW 2 132,091,792 (GRCm39) missense probably damaging 1.00
R7296:Pcna UTSW 2 132,094,797 (GRCm39) missense probably benign 0.10
R7917:Pcna UTSW 2 132,094,929 (GRCm39) missense probably benign 0.03
R8318:Pcna UTSW 2 132,093,348 (GRCm39) missense probably damaging 0.98
R8411:Pcna UTSW 2 132,093,850 (GRCm39) missense probably benign
R8793:Pcna UTSW 2 132,093,193 (GRCm39) missense probably benign 0.06
R8965:Pcna UTSW 2 132,094,769 (GRCm39) missense possibly damaging 0.94
R9780:Pcna UTSW 2 132,094,794 (GRCm39) missense probably benign 0.17
Posted On 2016-08-02