Incidental Mutation 'R0034:Poln'
ID |
15357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Poln
|
Ensembl Gene |
ENSMUSG00000045102 |
Gene Name |
DNA polymerase N |
Synonyms |
POL4P |
MMRRC Submission |
038328-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0034 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
34164523-34326792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 34272762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 398
(V398G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036110
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042954]
[ENSMUST00000202409]
[ENSMUST00000202638]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042954
AA Change: V398G
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000036110 Gene: ENSMUSG00000045102 AA Change: V398G
Domain | Start | End | E-Value | Type |
low complexity region
|
110 |
121 |
N/A |
INTRINSIC |
POLAc
|
605 |
814 |
7.88e-67 |
SMART |
low complexity region
|
829 |
843 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202325
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202409
AA Change: V398G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144578 Gene: ENSMUSG00000045102 AA Change: V398G
Domain | Start | End | E-Value | Type |
low complexity region
|
110 |
121 |
N/A |
INTRINSIC |
coiled coil region
|
448 |
471 |
N/A |
INTRINSIC |
POLAc
|
587 |
796 |
2.6e-69 |
SMART |
low complexity region
|
811 |
825 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202638
AA Change: V398G
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143793 Gene: ENSMUSG00000045102 AA Change: V398G
Domain | Start | End | E-Value | Type |
low complexity region
|
110 |
121 |
N/A |
INTRINSIC |
coiled coil region
|
448 |
471 |
N/A |
INTRINSIC |
POLAc
|
605 |
770 |
3e-37 |
SMART |
low complexity region
|
785 |
799 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4136 |
Coding Region Coverage |
- 1x: 76.6%
- 3x: 64.3%
- 10x: 35.1%
- 20x: 16.8%
|
Validation Efficiency |
87% (59/68) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced meiotic double-strand breaks at a meiotic recombination hot spot harboring insertion/deletion polymorphisms, but are otherwise normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
Chrna7 |
T |
G |
7: 62,798,354 (GRCm39) |
K109N |
possibly damaging |
Het |
Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
Farp1 |
A |
G |
14: 121,492,841 (GRCm39) |
H481R |
probably benign |
Het |
Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
T |
A |
17: 75,354,563 (GRCm39) |
|
probably benign |
Het |
Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
Nat8f5 |
C |
A |
6: 85,794,868 (GRCm39) |
A31S |
probably benign |
Het |
Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
Plcz1 |
A |
T |
6: 139,966,174 (GRCm39) |
|
probably benign |
Het |
Ppp2r2c |
A |
G |
5: 37,084,883 (GRCm39) |
I115V |
probably benign |
Het |
Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
Trim14 |
A |
G |
4: 46,523,627 (GRCm39) |
L137P |
probably damaging |
Het |
Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
Usp50 |
T |
C |
2: 126,619,895 (GRCm39) |
E139G |
possibly damaging |
Het |
Zfp949 |
A |
T |
9: 88,449,693 (GRCm39) |
|
probably benign |
Het |
Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
probably damaging |
Het |
|
Other mutations in Poln |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00803:Poln
|
APN |
5 |
34,280,104 (GRCm39) |
missense |
probably benign |
0.17 |
IGL00938:Poln
|
APN |
5 |
34,286,568 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02081:Poln
|
APN |
5 |
34,286,483 (GRCm39) |
missense |
probably benign |
|
IGL02411:Poln
|
APN |
5 |
34,270,666 (GRCm39) |
nonsense |
probably null |
|
IGL02440:Poln
|
APN |
5 |
34,286,474 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02484:Poln
|
APN |
5 |
34,286,721 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02577:Poln
|
APN |
5 |
34,270,679 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03113:Poln
|
APN |
5 |
34,274,206 (GRCm39) |
missense |
probably benign |
0.01 |
R0034:Poln
|
UTSW |
5 |
34,272,762 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0068:Poln
|
UTSW |
5 |
34,234,432 (GRCm39) |
splice site |
probably benign |
|
R0068:Poln
|
UTSW |
5 |
34,234,432 (GRCm39) |
splice site |
probably benign |
|
R0325:Poln
|
UTSW |
5 |
34,307,108 (GRCm39) |
missense |
probably benign |
0.00 |
R0578:Poln
|
UTSW |
5 |
34,171,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Poln
|
UTSW |
5 |
34,276,302 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1171:Poln
|
UTSW |
5 |
34,261,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R1266:Poln
|
UTSW |
5 |
34,290,453 (GRCm39) |
critical splice donor site |
probably null |
|
R1418:Poln
|
UTSW |
5 |
34,236,319 (GRCm39) |
missense |
probably benign |
0.00 |
R1449:Poln
|
UTSW |
5 |
34,171,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R1558:Poln
|
UTSW |
5 |
34,190,143 (GRCm39) |
missense |
probably benign |
0.04 |
R1723:Poln
|
UTSW |
5 |
34,280,016 (GRCm39) |
missense |
probably benign |
0.16 |
R1806:Poln
|
UTSW |
5 |
34,264,494 (GRCm39) |
splice site |
probably benign |
|
R4124:Poln
|
UTSW |
5 |
34,261,295 (GRCm39) |
missense |
probably benign |
0.32 |
R4125:Poln
|
UTSW |
5 |
34,261,295 (GRCm39) |
missense |
probably benign |
0.32 |
R4128:Poln
|
UTSW |
5 |
34,261,295 (GRCm39) |
missense |
probably benign |
0.32 |
R4155:Poln
|
UTSW |
5 |
34,166,993 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4353:Poln
|
UTSW |
5 |
34,286,796 (GRCm39) |
missense |
probably benign |
0.00 |
R4717:Poln
|
UTSW |
5 |
34,286,792 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4788:Poln
|
UTSW |
5 |
34,286,675 (GRCm39) |
missense |
probably benign |
0.30 |
R4981:Poln
|
UTSW |
5 |
34,264,429 (GRCm39) |
critical splice donor site |
probably null |
|
R5456:Poln
|
UTSW |
5 |
34,164,786 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6020:Poln
|
UTSW |
5 |
34,266,775 (GRCm39) |
missense |
probably damaging |
0.99 |
R6484:Poln
|
UTSW |
5 |
34,286,857 (GRCm39) |
missense |
probably benign |
0.01 |
R7134:Poln
|
UTSW |
5 |
34,276,340 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7639:Poln
|
UTSW |
5 |
34,290,495 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7764:Poln
|
UTSW |
5 |
34,274,151 (GRCm39) |
critical splice donor site |
probably null |
|
R7874:Poln
|
UTSW |
5 |
34,181,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R8039:Poln
|
UTSW |
5 |
34,280,016 (GRCm39) |
missense |
probably benign |
0.16 |
R8315:Poln
|
UTSW |
5 |
34,266,717 (GRCm39) |
missense |
probably benign |
0.00 |
R8320:Poln
|
UTSW |
5 |
34,307,171 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8340:Poln
|
UTSW |
5 |
34,307,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R8794:Poln
|
UTSW |
5 |
34,286,871 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8926:Poln
|
UTSW |
5 |
34,286,769 (GRCm39) |
missense |
probably benign |
0.24 |
R9021:Poln
|
UTSW |
5 |
34,286,485 (GRCm39) |
missense |
probably benign |
0.00 |
R9128:Poln
|
UTSW |
5 |
34,171,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R9382:Poln
|
UTSW |
5 |
34,164,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2012-12-17 |