Incidental Mutation 'IGL00839:Pcna'
| ID |
12943 |
| 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)
|
| Stock # |
IGL00839
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132091206-132095100 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132093340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 136
(V136I)
|
| 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 benign
Transcript: ENSMUST00000028817
AA Change: V136I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028817
Gene: ENSMUSG00000027342
AA Change: V136I
| 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: ENSMUST00000143782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141813
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,382,873 (GRCm39) |
S1031T |
probably benign |
Het |
| a |
T |
A |
2: 154,887,593 (GRCm39) |
F18I |
probably benign |
Het |
| Acsl4 |
A |
T |
X: 141,122,948 (GRCm39) |
N421K |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 103,007,010 (GRCm39) |
E745G |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,706,594 (GRCm39) |
N436D |
probably benign |
Het |
| Ap1s2 |
A |
G |
X: 162,709,951 (GRCm39) |
Y160C |
probably damaging |
Het |
| Bms1 |
C |
T |
6: 118,382,252 (GRCm39) |
V429M |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,607,089 (GRCm39) |
E158G |
probably damaging |
Het |
| Cldn34b4 |
T |
A |
X: 75,440,955 (GRCm39) |
C71S |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,531,095 (GRCm39) |
|
probably benign |
Het |
| Crisp3 |
T |
G |
17: 40,550,147 (GRCm39) |
|
probably null |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Defa24 |
T |
A |
8: 22,224,713 (GRCm39) |
L54H |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,706,994 (GRCm39) |
V504A |
probably benign |
Het |
| Eloa |
G |
A |
4: 135,738,670 (GRCm39) |
R97C |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,228,982 (GRCm39) |
|
probably benign |
Het |
| Fgb |
T |
A |
3: 82,950,598 (GRCm39) |
R385S |
possibly damaging |
Het |
| Glod4 |
T |
A |
11: 76,124,104 (GRCm39) |
H223L |
probably benign |
Het |
| Hrh1 |
C |
T |
6: 114,457,283 (GRCm39) |
T188I |
probably damaging |
Het |
| Hsph1 |
G |
T |
5: 149,541,919 (GRCm39) |
A769D |
possibly damaging |
Het |
| Jak2 |
C |
T |
19: 29,279,047 (GRCm39) |
P933S |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,900,017 (GRCm39) |
D107E |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,127,371 (GRCm39) |
S776R |
probably benign |
Het |
| Pde11a |
A |
G |
2: 76,045,729 (GRCm39) |
F365S |
probably damaging |
Het |
| Pi15 |
A |
G |
1: 17,691,747 (GRCm39) |
H183R |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,687,006 (GRCm39) |
Y638C |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,592,299 (GRCm39) |
D1196G |
probably benign |
Het |
| Pramel26 |
T |
C |
4: 143,539,293 (GRCm39) |
T67A |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,456,893 (GRCm39) |
I220V |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,328,274 (GRCm39) |
Y97N |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,909,174 (GRCm39) |
C690* |
probably null |
Het |
| Taf3 |
A |
T |
2: 9,957,728 (GRCm39) |
D146E |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,605,011 (GRCm39) |
T49A |
possibly damaging |
Het |
| Trdn |
T |
C |
10: 33,347,602 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
C |
T |
8: 79,060,385 (GRCm39) |
T435I |
probably benign |
Het |
| Vps37b |
T |
C |
5: 124,148,814 (GRCm39) |
T74A |
possibly damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,820,965 (GRCm39) |
Y687* |
probably null |
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 |
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation