Incidental Mutation 'IGL03124:Pcna'
ID410103
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcna
Ensembl Gene ENSMUSG00000027342
Gene Nameproliferating cell nuclear antigen
Synonyms
Accession Numbers

Genbank: NM_011045.2

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03124
Quality Score
Status
Chromosome2
Chromosomal Location132249162-132253314 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 132251753 bp
ZygosityHeterozygous
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]
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: ENSMUST00000140338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149627
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T C 4: 41,507,287 N170D possibly damaging Het
1700018B08Rik C A 8: 121,541,710 probably benign Het
4931414P19Rik A G 14: 54,595,139 V193A probably benign Het
Acap3 T C 4: 155,905,033 S645P probably benign Het
Alms1 A G 6: 85,678,419 I3316V probably benign Het
Apc T G 18: 34,299,985 H424Q probably damaging Het
BC003331 A G 1: 150,386,425 V88A probably benign Het
Camsap2 A T 1: 136,274,799 probably null Het
Car13 C T 3: 14,656,940 P182L possibly damaging Het
Ccdc87 T G 19: 4,841,054 S525A probably damaging Het
Ces1f T C 8: 93,275,384 N39D probably benign Het
Cyp2j13 C A 4: 96,061,922 A281S possibly damaging Het
Cyp4f15 G A 17: 32,685,812 probably null Het
Fam208b A T 13: 3,574,704 Y1749N probably benign Het
Fat4 C A 3: 38,981,552 R3118S possibly damaging Het
Glg1 C T 8: 111,200,171 V171M probably damaging Het
Hivep1 G T 13: 42,158,904 G1540V possibly damaging Het
Ighm T C 12: 113,421,638 D234G unknown Het
Igsf10 T C 3: 59,319,665 T2196A probably benign Het
Kctd19 T A 8: 105,387,070 Q657L possibly damaging Het
Klhl40 T A 9: 121,780,685 I512N probably damaging Het
Lima1 A T 15: 99,796,734 probably benign Het
Map2k4 A C 11: 65,690,791 I365S probably damaging Het
Mast4 T A 13: 102,738,245 K1346N probably damaging Het
Met T A 6: 17,492,078 F280I probably benign Het
Ncapg A G 5: 45,671,209 T101A probably benign Het
Nup214 T C 2: 31,996,440 F605L probably benign Het
Olfr291 T A 7: 84,856,723 M118K probably damaging Het
Olfr639 G T 7: 104,011,794 Q303K probably benign Het
Olfr873 T A 9: 20,301,163 M322K probably benign Het
Pck2 C T 14: 55,545,333 T373I probably damaging Het
Pecr A C 1: 72,277,340 S69A probably benign Het
Pitpnb A G 5: 111,330,830 E6G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Plbd2 A T 5: 120,493,077 F212I possibly damaging Het
Rfk T A 19: 17,398,595 H84Q possibly damaging Het
Scp2 T A 4: 108,063,906 I36F probably damaging Het
Slc9a4 A G 1: 40,580,735 T74A probably damaging Het
St6galnac1 G A 11: 116,775,299 A35V probably benign Het
Tmem8 G A 17: 26,116,834 R65Q probably damaging Het
Trav17 T C 14: 53,806,649 V4A probably benign Het
Vmn1r57 A T 7: 5,221,022 H182L possibly damaging Het
Vwa8 A T 14: 79,058,815 probably benign Het
Zgpat A G 2: 181,366,180 Y170C probably benign Het
Other mutations in Pcna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Pcna APN 2 132251932 missense probably benign 0.12
IGL00839:Pcna APN 2 132251420 missense probably benign 0.00
IGL01463:Pcna APN 2 132251429 missense probably damaging 1.00
IGL02437:Pcna APN 2 132251235 unclassified probably benign
IGL03083:Pcna APN 2 132251753 missense probably benign 0.10
IGL03084:Pcna APN 2 132251753 missense probably benign 0.10
IGL03094:Pcna APN 2 132251753 missense probably benign 0.10
IGL03046:Pcna UTSW 2 132251753 missense probably benign 0.10
NA:Pcna UTSW 2 132249884 missense probably benign 0.01
R0722:Pcna UTSW 2 132251235 unclassified probably benign
R1928:Pcna UTSW 2 132251897 unclassified probably benign
R3857:Pcna UTSW 2 132249621 missense probably benign 0.00
R7211:Pcna UTSW 2 132249872 missense probably damaging 1.00
R7296:Pcna UTSW 2 132252877 missense probably benign 0.10
Posted On2016-08-02