Incidental Mutation 'IGL02421:Primpol'
| ID |
292692 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Primpol
|
| Ensembl Gene |
ENSMUSG00000038225 |
| Gene Name |
primase and polymerase (DNA-directed) |
| Synonyms |
Ccdc111 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02421
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
47028629-47070247 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 47060830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040468]
[ENSMUST00000125319]
[ENSMUST00000136335]
[ENSMUST00000209787]
[ENSMUST00000210264]
[ENSMUST00000211400]
|
| AlphaFold |
Q6P1E7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040468
|
| SMART Domains |
Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Herpes_UL52
|
384 |
448 |
1.3e-19 |
PFAM |
|
low complexity region
|
465 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132472
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136335
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209787
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211400
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mutants are viable and fertile. Mice homozygous for another knock-out allele exhibit selective increase in C to G transversions in B cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
T |
C |
2: 154,892,672 (GRCm39) |
F117S |
probably damaging |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,361,939 (GRCm39) |
T1394A |
probably benign |
Het |
| Adam19 |
A |
G |
11: 46,028,380 (GRCm39) |
N671S |
probably damaging |
Het |
| Akap13 |
A |
T |
7: 75,367,554 (GRCm39) |
N1815I |
possibly damaging |
Het |
| Aloxe3 |
A |
G |
11: 69,020,872 (GRCm39) |
D199G |
possibly damaging |
Het |
| Ap1g2 |
G |
A |
14: 55,339,859 (GRCm39) |
A440V |
probably damaging |
Het |
| Bmt2 |
G |
T |
6: 13,628,841 (GRCm39) |
Q281K |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,717,662 (GRCm39) |
F2243L |
probably damaging |
Het |
| Cenpb |
G |
A |
2: 131,021,601 (GRCm39) |
R66C |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,694,541 (GRCm39) |
H1121L |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,306,148 (GRCm39) |
Y344C |
probably damaging |
Het |
| Cspg5 |
T |
A |
9: 110,076,460 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,150,637 (GRCm39) |
N374D |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,550,215 (GRCm39) |
V3368A |
possibly damaging |
Het |
| Eml4 |
T |
C |
17: 83,785,321 (GRCm39) |
S829P |
probably benign |
Het |
| Got2-ps1 |
T |
C |
5: 138,362,811 (GRCm39) |
|
noncoding transcript |
Het |
| Hal |
T |
C |
10: 93,339,335 (GRCm39) |
C475R |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,850,136 (GRCm39) |
P806S |
possibly damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,921,806 (GRCm39) |
T88S |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,234,479 (GRCm39) |
H237R |
probably damaging |
Het |
| Opn5 |
C |
T |
17: 42,907,446 (GRCm39) |
|
probably benign |
Het |
| Or1d2 |
T |
C |
11: 74,256,017 (GRCm39) |
I174T |
probably damaging |
Het |
| Or4c110 |
T |
C |
2: 88,831,688 (GRCm39) |
|
probably null |
Het |
| Or51f2 |
T |
C |
7: 102,526,966 (GRCm39) |
I213T |
probably damaging |
Het |
| Or56b2 |
A |
G |
7: 104,337,740 (GRCm39) |
N173D |
probably benign |
Het |
| Pira12 |
T |
C |
7: 3,899,994 (GRCm39) |
N203D |
possibly damaging |
Het |
| Polb |
C |
T |
8: 23,130,389 (GRCm39) |
G179D |
probably damaging |
Het |
| Prom2 |
T |
A |
2: 127,373,802 (GRCm39) |
|
probably null |
Het |
| Psmb10 |
A |
G |
8: 106,664,124 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
T |
G |
10: 58,316,376 (GRCm39) |
S2365R |
probably damaging |
Het |
| Sgce |
G |
A |
6: 4,694,187 (GRCm39) |
|
probably benign |
Het |
| Slc25a34 |
A |
G |
4: 141,348,753 (GRCm39) |
V237A |
probably benign |
Het |
| Slc39a2 |
A |
T |
14: 52,131,329 (GRCm39) |
T25S |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,550,535 (GRCm39) |
C423R |
probably damaging |
Het |
| Stt3b |
G |
A |
9: 115,080,920 (GRCm39) |
|
probably benign |
Het |
| Tbl1xr1 |
A |
T |
3: 22,257,327 (GRCm39) |
I397F |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,343,591 (GRCm39) |
V117A |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,271,952 (GRCm39) |
F1035L |
probably benign |
Het |
| Trhde |
T |
A |
10: 114,248,366 (GRCm39) |
K944N |
probably damaging |
Het |
| Vmn1r54 |
G |
A |
6: 90,246,133 (GRCm39) |
A16T |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,415,414 (GRCm39) |
N801K |
probably damaging |
Het |
| Xylt2 |
A |
G |
11: 94,558,588 (GRCm39) |
Y523H |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,902,000 (GRCm39) |
R5G |
probably damaging |
Het |
|
| Other mutations in Primpol |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Primpol
|
APN |
8 |
47,034,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02886:Primpol
|
APN |
8 |
47,046,619 (GRCm39) |
nonsense |
probably null |
|
|
IGL03244:Primpol
|
APN |
8 |
47,039,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Primpol
|
UTSW |
8 |
47,052,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Primpol
|
UTSW |
8 |
47,063,496 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0330:Primpol
|
UTSW |
8 |
47,063,496 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0571:Primpol
|
UTSW |
8 |
47,034,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1266:Primpol
|
UTSW |
8 |
47,046,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1334:Primpol
|
UTSW |
8 |
47,039,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Primpol
|
UTSW |
8 |
47,046,672 (GRCm39) |
missense |
probably benign |
|
|
R1469:Primpol
|
UTSW |
8 |
47,046,672 (GRCm39) |
missense |
probably benign |
|
|
R1524:Primpol
|
UTSW |
8 |
47,039,502 (GRCm39) |
intron |
probably benign |
|
|
R1738:Primpol
|
UTSW |
8 |
47,060,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2144:Primpol
|
UTSW |
8 |
47,039,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3747:Primpol
|
UTSW |
8 |
47,052,848 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3748:Primpol
|
UTSW |
8 |
47,052,848 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3750:Primpol
|
UTSW |
8 |
47,052,848 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4378:Primpol
|
UTSW |
8 |
47,029,218 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4855:Primpol
|
UTSW |
8 |
47,039,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5209:Primpol
|
UTSW |
8 |
47,043,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5497:Primpol
|
UTSW |
8 |
47,045,657 (GRCm39) |
nonsense |
probably null |
|
|
R5720:Primpol
|
UTSW |
8 |
47,034,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Primpol
|
UTSW |
8 |
47,046,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6164:Primpol
|
UTSW |
8 |
47,039,477 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6497:Primpol
|
UTSW |
8 |
47,039,376 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6549:Primpol
|
UTSW |
8 |
47,058,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Primpol
|
UTSW |
8 |
47,063,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7775:Primpol
|
UTSW |
8 |
47,039,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Primpol
|
UTSW |
8 |
47,039,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7824:Primpol
|
UTSW |
8 |
47,039,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8055:Primpol
|
UTSW |
8 |
47,032,197 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8840:Primpol
|
UTSW |
8 |
47,046,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Primpol
|
UTSW |
8 |
47,034,597 (GRCm39) |
splice site |
probably benign |
|
|
R9356:Primpol
|
UTSW |
8 |
47,043,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9388:Primpol
|
UTSW |
8 |
47,034,605 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2015-04-16 |
Incidental Mutation