Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01463:Pcna'

88041

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 #

IGL01463

Quality Score

Status

Chromosome

Chromosomal Location

132091206-132095100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132093349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 133 (Y133N)

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

Domain	Start	End	E-Value	Type
Pfam:DUF872	14	118	5.5e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000028817
AA Change: Y133N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028817
Gene: ENSMUSG00000027342
AA Change: Y133N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:DUF872	14	118	5.5e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110164

SMART Domains

Protein: ENSMUSP00000105793
Gene: ENSMUSG00000027341

Domain	Start	End	E-Value	Type
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: ENSMUST00000141813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143782

Predicted Effect

probably benign
Transcript: ENSMUST00000180286

SMART Domains

Protein: ENSMUSP00000136826
Gene: ENSMUSG00000027341

Domain	Start	End	E-Value	Type
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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,142,790 (GRCm39)	D773G	probably damaging	Het
Clvs1	A	G	4: 9,429,818 (GRCm39)	T274A	probably benign	Het
Cyp2c50	G	T	19: 40,079,422 (GRCm39)	C172F	probably damaging	Het
Fam83h	G	T	15: 75,875,637 (GRCm39)	R567S	possibly damaging	Het
Fastkd1	A	G	2: 69,520,405 (GRCm39)		probably null	Het
Gmds	A	T	13: 32,418,341 (GRCm39)	Y48N	probably damaging	Het
Mov10	C	T	3: 104,707,640 (GRCm39)	R578H	probably damaging	Het
Rhag	T	C	17: 41,139,646 (GRCm39)	I126T	probably damaging	Het
Sdr16c6	C	T	4: 4,063,238 (GRCm39)	G179D	probably damaging	Het
Sv2b	C	T	7: 74,786,203 (GRCm39)	G406S	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Vmn2r93	T	A	17: 18,525,150 (GRCm39)	N269K	probably damaging	Het

Other mutations in Pcna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2013-11-18