Incidental Mutation 'IGL00435:Pcna'
| ID |
7022 |
| 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 # |
IGL00435
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132091206-132095100 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132093852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 97
(D97G)
|
| 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: D97G
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000028817
Gene: ENSMUSG00000027342
AA Change: D97G
| 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: ENSMUST00000140338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149627
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
A |
T |
17: 68,152,796 (GRCm39) |
D657E |
probably damaging |
Het |
| Cd200l1 |
A |
T |
16: 45,264,483 (GRCm39) |
L25Q |
probably damaging |
Het |
| Cd68 |
T |
C |
11: 69,556,676 (GRCm39) |
T44A |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,733,678 (GRCm39) |
T555M |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,701,628 (GRCm39) |
Q169R |
probably damaging |
Het |
| Cs |
T |
C |
10: 128,195,912 (GRCm39) |
F374L |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,393,226 (GRCm39) |
E181G |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,625 (GRCm39) |
T133A |
probably benign |
Het |
| Esr2 |
G |
A |
12: 76,180,653 (GRCm39) |
R423W |
probably damaging |
Het |
| Eya4 |
T |
C |
10: 23,034,995 (GRCm39) |
Y120C |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,206,202 (GRCm39) |
M582T |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,863,953 (GRCm39) |
D2575V |
probably damaging |
Het |
| Ghsr |
A |
G |
3: 27,426,532 (GRCm39) |
E196G |
possibly damaging |
Het |
| Gm10024 |
G |
A |
10: 77,547,295 (GRCm39) |
|
probably benign |
Het |
| Gpr65 |
A |
G |
12: 98,241,815 (GRCm39) |
E156G |
probably damaging |
Het |
| Gtf3c3 |
T |
C |
1: 54,466,694 (GRCm39) |
Y249C |
possibly damaging |
Het |
| H2-T23 |
G |
A |
17: 36,342,673 (GRCm39) |
A155V |
probably damaging |
Het |
| Hadha |
A |
G |
5: 30,327,171 (GRCm39) |
S556P |
probably benign |
Het |
| Hdac7 |
T |
A |
15: 97,707,376 (GRCm39) |
K187N |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,452,255 (GRCm39) |
I332V |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,407,600 (GRCm39) |
D1198G |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,129,410 (GRCm39) |
L159P |
probably damaging |
Het |
| Me2 |
T |
C |
18: 73,903,713 (GRCm39) |
E585G |
probably benign |
Het |
| Nfu1 |
A |
T |
6: 86,992,577 (GRCm39) |
T64S |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,166,728 (GRCm39) |
D632G |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,265,612 (GRCm39) |
|
probably benign |
Het |
| Phactr1 |
C |
A |
13: 43,110,122 (GRCm39) |
R2S |
probably damaging |
Het |
| Psmd11 |
T |
A |
11: 80,361,210 (GRCm39) |
I347N |
possibly damaging |
Het |
| Rad21l |
T |
C |
2: 151,495,436 (GRCm39) |
T416A |
probably benign |
Het |
| Ruvbl2 |
A |
T |
7: 45,074,596 (GRCm39) |
S181T |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,253,049 (GRCm39) |
T109A |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,490,494 (GRCm39) |
Y3785F |
probably damaging |
Het |
| Sec16a |
T |
C |
2: 26,320,113 (GRCm39) |
T1442A |
probably benign |
Het |
| Slc6a14 |
T |
A |
X: 21,600,363 (GRCm39) |
|
probably benign |
Het |
| Slco2b1 |
G |
A |
7: 99,309,259 (GRCm39) |
Q691* |
probably null |
Het |
| Tent5c |
A |
G |
3: 100,380,672 (GRCm39) |
V28A |
probably damaging |
Het |
| Them5 |
A |
G |
3: 94,253,496 (GRCm39) |
T169A |
possibly damaging |
Het |
| Trav13-2 |
T |
C |
14: 53,872,688 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tst |
A |
T |
15: 78,289,661 (GRCm39) |
S125T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,630,868 (GRCm39) |
T14179A |
probably benign |
Het |
| Vps37b |
A |
G |
5: 124,148,850 (GRCm39) |
Y62H |
probably damaging |
Het |
|
| Other mutations in Pcna |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation