Incidental Mutation 'IGL02411:Poln'
ID |
292290 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Poln
|
Ensembl Gene |
ENSMUSG00000045102 |
Gene Name |
DNA polymerase N |
Synonyms |
POL4P |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02411
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
34164523-34326792 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 34270666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 455
(S455*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042954]
[ENSMUST00000202409]
[ENSMUST00000202638]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000042954
AA Change: S455*
|
SMART Domains |
Protein: ENSMUSP00000036110 Gene: ENSMUSG00000045102 AA Change: S455*
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 |
probably null
Transcript: ENSMUST00000202409
AA Change: S455*
|
SMART Domains |
Protein: ENSMUSP00000144578 Gene: ENSMUSG00000045102 AA Change: S455*
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 |
probably null
Transcript: ENSMUST00000202638
AA Change: S455*
|
SMART Domains |
Protein: ENSMUSP00000143793 Gene: ENSMUSG00000045102 AA Change: S455*
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
A |
G |
5: 64,055,459 (GRCm39) |
E65G |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,756,431 (GRCm39) |
R1425C |
probably damaging |
Het |
Adcy3 |
A |
T |
12: 4,259,407 (GRCm39) |
|
probably null |
Het |
AI661453 |
T |
G |
17: 47,778,263 (GRCm39) |
|
probably benign |
Het |
Arhgef10 |
A |
T |
8: 15,004,819 (GRCm39) |
Y445F |
probably benign |
Het |
Atrx |
G |
T |
X: 104,874,587 (GRCm39) |
S1924R |
possibly damaging |
Het |
Clca3a1 |
T |
C |
3: 144,733,763 (GRCm39) |
T58A |
possibly damaging |
Het |
Clec1b |
A |
G |
6: 129,378,804 (GRCm39) |
Y97C |
probably damaging |
Het |
Cobll1 |
A |
G |
2: 64,928,084 (GRCm39) |
S1080P |
probably damaging |
Het |
Crb1 |
C |
A |
1: 139,176,213 (GRCm39) |
C529F |
probably damaging |
Het |
Crim1 |
C |
T |
17: 78,642,763 (GRCm39) |
R494* |
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,938,257 (GRCm39) |
|
probably benign |
Het |
Dntt |
T |
A |
19: 41,041,424 (GRCm39) |
|
probably null |
Het |
Gjb1 |
T |
C |
X: 100,428,611 (GRCm39) |
C280R |
probably damaging |
Het |
Glp1r |
T |
A |
17: 31,143,485 (GRCm39) |
C174S |
probably damaging |
Het |
Gm5414 |
A |
T |
15: 101,536,269 (GRCm39) |
Y119N |
probably benign |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Gm9796 |
G |
T |
11: 95,588,756 (GRCm39) |
|
noncoding transcript |
Het |
Gm9956 |
T |
C |
10: 56,621,388 (GRCm39) |
F17L |
unknown |
Het |
Il1rap |
A |
T |
16: 26,529,366 (GRCm39) |
D396V |
probably damaging |
Het |
Impa1 |
T |
C |
3: 10,388,018 (GRCm39) |
K135E |
possibly damaging |
Het |
Iqub |
G |
A |
6: 24,449,810 (GRCm39) |
A685V |
probably damaging |
Het |
Jade3 |
T |
C |
X: 20,379,063 (GRCm39) |
V512A |
probably benign |
Het |
Kif3a |
C |
A |
11: 53,461,525 (GRCm39) |
P57T |
probably damaging |
Het |
Kndc1 |
G |
T |
7: 139,501,829 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Maged2 |
G |
T |
X: 149,592,755 (GRCm39) |
D343E |
probably benign |
Het |
Magi2 |
T |
C |
5: 19,883,707 (GRCm39) |
S120P |
probably damaging |
Het |
Nxph3 |
A |
T |
11: 95,401,656 (GRCm39) |
*253R |
probably null |
Het |
Oog2 |
A |
T |
4: 143,921,618 (GRCm39) |
H194L |
probably damaging |
Het |
Pcbd2 |
T |
G |
13: 55,880,764 (GRCm39) |
W7G |
probably benign |
Het |
Pcdhb14 |
T |
G |
18: 37,582,823 (GRCm39) |
L643R |
possibly damaging |
Het |
Plch1 |
G |
T |
3: 63,605,177 (GRCm39) |
|
probably null |
Het |
Ppp2r1a |
T |
C |
17: 21,171,596 (GRCm39) |
|
probably benign |
Het |
Rsu1 |
T |
G |
2: 13,082,308 (GRCm39) |
|
probably benign |
Het |
Serpina10 |
A |
T |
12: 103,583,202 (GRCm39) |
M360K |
possibly damaging |
Het |
Sox30 |
A |
T |
11: 45,871,951 (GRCm39) |
K269* |
probably null |
Het |
Thbs1 |
T |
C |
2: 117,945,451 (GRCm39) |
V310A |
probably benign |
Het |
Tie1 |
C |
A |
4: 118,343,760 (GRCm39) |
E61* |
probably null |
Het |
Tm2d1 |
G |
T |
4: 98,268,911 (GRCm39) |
P62Q |
probably damaging |
Het |
Tpp1 |
G |
T |
7: 105,398,826 (GRCm39) |
P201Q |
probably damaging |
Het |
Trim13 |
A |
G |
14: 61,842,598 (GRCm39) |
E205G |
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 |
|
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 |
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 |
2015-04-16 |