Incidental Mutation 'R5720:Primpol'
| ID |
451413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Primpol
|
| Ensembl Gene |
ENSMUSG00000038225 |
| Gene Name |
primase and polymerase (DNA-directed) |
| Synonyms |
Ccdc111 |
| MMRRC Submission |
043188-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5720 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47028629-47070247 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47034677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 417
(V417A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034045]
[ENSMUST00000040468]
[ENSMUST00000093518]
[ENSMUST00000135432]
[ENSMUST00000136335]
[ENSMUST00000209787]
[ENSMUST00000211400]
|
| AlphaFold |
Q6P1E7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034045
|
| SMART Domains |
Protein: ENSMUSP00000034045
Gene: ENSMUSG00000031629
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
66 |
N/A |
INTRINSIC |
|
Pfam:CENP-U
|
138 |
312 |
6.5e-74 |
PFAM |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040468
AA Change: V417A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225
AA Change: V417A
| 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: ENSMUST00000093518
|
| SMART Domains |
Protein: ENSMUSP00000091239
Gene: ENSMUSG00000031629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-U
|
39 |
162 |
4.6e-61 |
PFAM |
|
low complexity region
|
190 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136724
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209787
AA Change: V417A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211400
AA Change: V417A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
4: 140,308,930 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,228,802 (GRCm39) |
T1125A |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,233,171 (GRCm39) |
N1165K |
probably benign |
Het |
| Ctf1 |
A |
T |
7: 127,316,174 (GRCm39) |
|
probably null |
Het |
| Defb26 |
T |
C |
2: 152,350,122 (GRCm39) |
N53D |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,907,825 (GRCm39) |
T787A |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,552,979 (GRCm39) |
L96P |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gpr65 |
A |
T |
12: 98,241,361 (GRCm39) |
S5C |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Itga8 |
G |
A |
2: 12,115,898 (GRCm39) |
S76L |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,205,931 (GRCm39) |
F1810Y |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,306,038 (GRCm39) |
L126P |
probably damaging |
Het |
| Or4a77 |
T |
C |
2: 89,487,299 (GRCm39) |
Y162C |
probably benign |
Het |
| Pus1 |
C |
T |
5: 110,925,584 (GRCm39) |
E79K |
probably damaging |
Het |
| Rspo2 |
C |
T |
15: 43,033,210 (GRCm39) |
C4Y |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 104,004,563 (GRCm39) |
D23G |
probably benign |
Het |
| Serpind1 |
A |
T |
16: 17,157,696 (GRCm39) |
R297S |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc17a6 |
C |
T |
7: 51,275,145 (GRCm39) |
P68L |
probably damaging |
Het |
| Slc6a5 |
C |
T |
7: 49,606,264 (GRCm39) |
P724L |
possibly damaging |
Het |
| Spaca7 |
A |
G |
8: 12,649,004 (GRCm39) |
E166G |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,021,993 (GRCm39) |
S345P |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 76,014,441 (GRCm39) |
D3211N |
probably benign |
Het |
| Tmem132e |
G |
A |
11: 82,333,276 (GRCm39) |
|
probably null |
Het |
| Trappc14 |
A |
G |
5: 138,261,964 (GRCm39) |
V44A |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,013,587 (GRCm39) |
S536P |
probably benign |
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 |
|
IGL02421:Primpol
|
APN |
8 |
47,060,830 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAATAGCAGACTTACTTCAGTGG -3'
(R):5'- ACACGAGTGCTTTGCCCATG -3'
Sequencing Primer
(F):5'- AGCAGACTTACTTCAGTGGGTAATG -3'
(R):5'- GCCATGAGTGTTATTTTTAGCAACC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation