Incidental Mutation 'IGL03083:Pcna'
ID |
417944 |
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 # |
IGL03083
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
132091206-132095100 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 132093673 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
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: E109K
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000028817 Gene: ENSMUSG00000027342 AA Change: E109K
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: ENSMUST00000149627
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140338
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143782
|
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 |
|
Meta Mutation Damage Score |
0.2269 |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,932,261 (GRCm39) |
|
probably null |
Het |
Acadsb |
A |
C |
7: 131,042,922 (GRCm39) |
|
probably benign |
Het |
Ankk1 |
A |
G |
9: 49,333,166 (GRCm39) |
L106P |
probably benign |
Het |
Ankrd24 |
G |
A |
10: 81,474,483 (GRCm39) |
A72T |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,592,117 (GRCm39) |
Q801L |
probably damaging |
Het |
Avil |
A |
G |
10: 126,852,193 (GRCm39) |
I659M |
probably benign |
Het |
Ccnc |
A |
G |
4: 21,742,683 (GRCm39) |
D170G |
possibly damaging |
Het |
Cfap57 |
T |
C |
4: 118,441,936 (GRCm39) |
K711E |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,174,466 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,914,548 (GRCm39) |
|
probably null |
Het |
Efhb |
A |
T |
17: 53,706,087 (GRCm39) |
W817R |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Fer1l4 |
A |
G |
2: 155,881,286 (GRCm39) |
|
probably benign |
Het |
Fgf8 |
T |
C |
19: 45,725,667 (GRCm39) |
N137S |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,521,576 (GRCm39) |
D533G |
probably benign |
Het |
Fshb |
A |
G |
2: 106,887,812 (GRCm39) |
V69A |
probably benign |
Het |
Galnt7 |
A |
T |
8: 57,979,223 (GRCm39) |
H633Q |
probably damaging |
Het |
Gm5458 |
A |
G |
14: 19,652,451 (GRCm39) |
|
probably null |
Het |
Hjv |
T |
A |
3: 96,435,922 (GRCm39) |
D393E |
probably benign |
Het |
Hpca |
A |
C |
4: 129,012,319 (GRCm39) |
F72L |
probably damaging |
Het |
Inpp5d |
A |
T |
1: 87,638,863 (GRCm39) |
D552V |
probably damaging |
Het |
Lepr |
C |
T |
4: 101,671,876 (GRCm39) |
Q967* |
probably null |
Het |
Lgr5 |
A |
G |
10: 115,288,937 (GRCm39) |
V497A |
probably benign |
Het |
Matr3 |
A |
G |
18: 35,705,471 (GRCm39) |
K132R |
probably damaging |
Het |
Mib1 |
T |
G |
18: 10,752,029 (GRCm39) |
|
probably null |
Het |
Mios |
T |
A |
6: 8,215,156 (GRCm39) |
N117K |
probably damaging |
Het |
Nab1 |
T |
C |
1: 52,529,429 (GRCm39) |
D156G |
probably benign |
Het |
Nfxl1 |
C |
T |
5: 72,698,005 (GRCm39) |
|
probably benign |
Het |
Nutm2 |
G |
A |
13: 50,621,480 (GRCm39) |
G15E |
probably damaging |
Het |
Oca2 |
A |
G |
7: 55,945,232 (GRCm39) |
H280R |
probably benign |
Het |
Or10al2 |
C |
A |
17: 37,983,551 (GRCm39) |
C212* |
probably null |
Het |
Or4d1 |
T |
C |
11: 87,804,914 (GRCm39) |
I273V |
probably benign |
Het |
P2ry1 |
A |
G |
3: 60,911,736 (GRCm39) |
T292A |
probably benign |
Het |
Pidd1 |
A |
G |
7: 141,020,369 (GRCm39) |
|
probably null |
Het |
Pitpnm2 |
T |
C |
5: 124,271,445 (GRCm39) |
E376G |
possibly damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,635,872 (GRCm39) |
|
probably null |
Het |
Sbno2 |
A |
T |
10: 79,893,368 (GRCm39) |
M1311K |
probably damaging |
Het |
Senp7 |
A |
G |
16: 55,992,228 (GRCm39) |
N701S |
probably benign |
Het |
Sirpa |
T |
A |
2: 129,471,848 (GRCm39) |
I211N |
probably damaging |
Het |
Slc9a4 |
A |
G |
1: 40,668,562 (GRCm39) |
E735G |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,302,820 (GRCm39) |
M790I |
probably damaging |
Het |
Sult1e1 |
T |
A |
5: 87,737,983 (GRCm39) |
M33L |
probably benign |
Het |
Tapbpl |
G |
A |
6: 125,205,191 (GRCm39) |
|
probably null |
Het |
Top1 |
A |
G |
2: 160,545,498 (GRCm39) |
T289A |
probably damaging |
Het |
Trim58 |
T |
A |
11: 58,542,216 (GRCm39) |
M392K |
probably benign |
Het |
Uaca |
A |
G |
9: 60,770,945 (GRCm39) |
I371V |
probably benign |
Het |
Vmn1r54 |
T |
C |
6: 90,246,854 (GRCm39) |
I256T |
possibly damaging |
Het |
Wdr19 |
T |
C |
5: 65,388,319 (GRCm39) |
I668T |
probably benign |
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 |
IGL01463:Pcna
|
APN |
2 |
132,093,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02437:Pcna
|
APN |
2 |
132,093,155 (GRCm39) |
unclassified |
probably benign |
|
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 |
2016-08-02 |