Incidental Mutation 'IGL03094:Pcna'
ID 418484
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 # IGL03094
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: ENSMUST00000136676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149627
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,074,938 (GRCm39) N1375S probably benign Het
Adamts15 A T 9: 30,815,768 (GRCm39) probably benign Het
Ahnak G A 19: 8,980,911 (GRCm39) V732M possibly damaging Het
Akr1c19 G A 13: 4,286,184 (GRCm39) V61I probably benign Het
BC025920 C A 10: 81,444,906 (GRCm39) R10S probably benign Het
Cdh11 T C 8: 103,385,035 (GRCm39) I347V probably benign Het
Cyp11b2 A G 15: 74,724,886 (GRCm39) probably null Het
Cyp4a31 T A 4: 115,435,305 (GRCm39) probably benign Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Glra3 C A 8: 56,578,207 (GRCm39) H421Q probably benign Het
Gtf2f1 T C 17: 57,314,049 (GRCm39) N145S probably damaging Het
Hsd17b12 A T 2: 93,864,339 (GRCm39) V256E probably damaging Het
Ighv1-34 C T 12: 114,814,958 (GRCm39) G68E probably damaging Het
Ipo5 T C 14: 121,181,089 (GRCm39) probably benign Het
Knop1 T A 7: 118,452,374 (GRCm39) D63V possibly damaging Het
Krt39 T C 11: 99,411,628 (GRCm39) probably benign Het
Ldhb T C 6: 142,451,253 (GRCm39) K5R probably benign Het
Loxhd1 A T 18: 77,518,809 (GRCm39) I1872F possibly damaging Het
Lrfn5 A G 12: 61,886,532 (GRCm39) N107D probably benign Het
Mks1 A G 11: 87,746,291 (GRCm39) probably benign Het
Nup93 C T 8: 95,023,130 (GRCm39) T236I probably benign Het
Olig3 T C 10: 19,232,878 (GRCm39) S168P probably benign Het
Or1i2 A G 10: 78,447,953 (GRCm39) I174T possibly damaging Het
Per3 A C 4: 151,093,755 (GRCm39) I1020R probably damaging Het
Plbd2 T C 5: 120,624,845 (GRCm39) N441S probably damaging Het
Plec A G 15: 76,075,519 (GRCm39) S398P probably damaging Het
Ppm1m T G 9: 106,073,610 (GRCm39) K314T probably damaging Het
Prmt2 T A 10: 76,046,224 (GRCm39) probably benign Het
Rbm19 T C 5: 120,261,023 (GRCm39) S216P probably damaging Het
Sart1 A G 19: 5,434,109 (GRCm39) probably benign Het
Tmem225 A T 9: 40,059,682 (GRCm39) I21L possibly damaging Het
Tnnt2 T C 1: 135,777,200 (GRCm39) probably null Het
Trappc10 A T 10: 78,064,754 (GRCm39) probably benign Het
Trip13 A G 13: 74,081,075 (GRCm39) L97P probably benign Het
Zmat2 T G 18: 36,929,119 (GRCm39) V89G probably damaging 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
IGL03083:Pcna APN 2 132,093,673 (GRCm39) missense probably benign 0.10
IGL03084: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