Incidental Mutation 'IGL02437:Pcna'
ID293343
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 #IGL02437
Quality Score
Status
Chromosome2
Chromosomal Location132249162-132253314 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 132251235 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136826 (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
SMART Domains Protein: ENSMUSP00000028817
Gene: ENSMUSG00000027342

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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca16 T G 7: 120,533,729 C1294G probably benign Het
Abca7 T A 10: 80,008,389 S1410T probably damaging Het
Abhd12 T C 2: 150,834,369 D356G probably benign Het
BC004004 T C 17: 29,298,697 L295P probably damaging Het
Bpifc T C 10: 85,988,731 S215G probably damaging Het
Bptf C T 11: 107,074,695 M1109I probably benign Het
Brat1 C T 5: 140,712,808 A245V possibly damaging Het
Cask G A X: 13,537,621 T16I probably damaging Het
Clic6 A T 16: 92,530,929 I541F probably damaging Het
Clnk C T 5: 38,774,566 probably null Het
Cntnap1 T A 11: 101,186,851 I1113N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26a1 T C 19: 37,698,495 S132P probably benign Het
Cyp4f13 G T 17: 32,930,608 H85N probably benign Het
Dcaf15 C T 8: 84,101,816 G215D probably damaging Het
Dip2a T C 10: 76,298,267 T500A probably benign Het
Fam92b T C 8: 120,174,786 E60G probably damaging Het
Gbe1 T A 16: 70,434,658 probably benign Het
Gli2 T A 1: 118,836,003 I1473F probably damaging Het
Gm5129 A T 5: 29,735,863 probably benign Het
Hdgf C T 3: 87,914,485 R168C probably damaging Het
Heph A G X: 96,473,027 T342A probably benign Het
Kdelr3 T C 15: 79,525,787 Y158H probably damaging Het
Lamb3 C T 1: 193,327,945 R289C probably damaging Het
Leng8 C T 7: 4,142,093 A164V probably damaging Het
Ltn1 T C 16: 87,398,001 T1337A probably benign Het
Mast3 C A 8: 70,780,558 R316L possibly damaging Het
Nampt A G 12: 32,830,216 Y36C probably damaging Het
Ncapd3 T A 9: 27,063,968 probably benign Het
Nipbl T C 15: 8,359,074 D354G probably damaging Het
Nsd1 A T 13: 55,313,441 R2494W probably damaging Het
Nt5c1a A G 4: 123,214,241 N239S probably benign Het
Ogfr A G 2: 180,589,536 E19G possibly damaging Het
Olfr48 A G 2: 89,844,784 L63P probably damaging Het
Olfr747 A T 14: 50,681,200 S145T probably benign Het
Pdia3 T A 2: 121,433,648 V326E probably damaging Het
Phf8 T A X: 151,631,360 L1002Q possibly damaging Het
Rhobtb2 T C 14: 69,795,916 E535G probably damaging Het
Rusc2 G T 4: 43,415,545 D284Y probably damaging Het
Samd8 A G 14: 21,775,423 Y212C probably benign Het
Sash3 C A X: 48,158,795 Q169K probably benign Het
Scyl1 C T 19: 5,766,196 G324S probably damaging Het
Sec62 G A 3: 30,818,847 G360R unknown Het
Sis T C 3: 72,919,614 probably null Het
Slc6a1 T A 6: 114,308,617 I338N probably damaging Het
Snrnp200 A G 2: 127,216,110 D264G probably damaging Het
Tgm3 G T 2: 130,030,041 probably null Het
Tmem2 T C 19: 21,811,978 probably null Het
Tnrc6b T G 15: 80,880,457 L720R probably damaging Het
Tspyl4 A T 10: 34,298,232 Q240L probably damaging Het
Tube1 G A 10: 39,140,850 V80I probably damaging Het
Uap1l1 C T 2: 25,363,933 V304M probably damaging Het
Wtap T C 17: 12,967,733 N309S probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfyve26 T C 12: 79,268,847 D1285G probably benign Het
Zscan20 G A 4: 128,588,417 T484I probably damaging 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
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
IGL03124: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 On2015-04-16