Incidental Mutation 'R3748:Primpol'
| ID |
309925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Primpol
|
| Ensembl Gene |
ENSMUSG00000038225 |
| Gene Name |
primase and polymerase (DNA-directed) |
| Synonyms |
Ccdc111 |
| MMRRC Submission |
040733-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47028629-47070247 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47052848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 154
(D154E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040468]
[ENSMUST00000136335]
[ENSMUST00000209787]
[ENSMUST00000211400]
|
| AlphaFold |
Q6P1E7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040468
AA Change: D154E
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225
AA Change: D154E
| 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: ENSMUST00000136335
AA Change: D154E
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209787
AA Change: D154E
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211400
AA Change: D154E
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.0962 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,112,422 (GRCm39) |
|
probably benign |
Het |
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Abca13 |
T |
C |
11: 9,266,119 (GRCm39) |
|
probably benign |
Het |
| Acaca |
A |
G |
11: 84,202,235 (GRCm39) |
|
probably null |
Het |
| Adam2 |
C |
T |
14: 66,297,361 (GRCm39) |
V182I |
probably benign |
Het |
| Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
| Cfap68 |
A |
G |
9: 50,677,050 (GRCm39) |
C14R |
probably benign |
Het |
| Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,276,849 (GRCm39) |
Y393N |
probably damaging |
Het |
| Cmss1 |
T |
C |
16: 57,122,635 (GRCm39) |
E253G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,956,071 (GRCm39) |
N3379H |
probably damaging |
Het |
| Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
| Daam1 |
C |
A |
12: 72,017,940 (GRCm39) |
D716E |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
| Fam221a |
A |
G |
6: 49,349,630 (GRCm39) |
D2G |
probably damaging |
Het |
| Golgb1 |
G |
C |
16: 36,739,274 (GRCm39) |
D2538H |
probably benign |
Het |
| Hoxc12 |
A |
G |
15: 102,846,813 (GRCm39) |
E235G |
probably damaging |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,770,132 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nrp1 |
T |
C |
8: 129,184,461 (GRCm39) |
W369R |
probably damaging |
Het |
| Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
| Or13a19 |
T |
C |
7: 139,903,041 (GRCm39) |
L143P |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Tdh |
T |
C |
14: 63,733,442 (GRCm39) |
T149A |
probably benign |
Het |
| Tnip3 |
C |
T |
6: 65,591,747 (GRCm39) |
L249F |
probably damaging |
Het |
| Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,854 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,207,351 (GRCm39) |
I97V |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTACCGGATATAGACAGGGC -3'
(R):5'- CAGTGTCCTGGTGATGACTC -3'
Sequencing Primer
(F):5'- GCAAGAGCTTAGGGCACTC -3'
(R):5'- AGTGTCCTGGTGATGACTCATCTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation