Incidental Mutation 'IGL00938:Poln'
| ID |
27445 |
| 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 # |
IGL00938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34164523-34326792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34286568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 200
(C200F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042954]
[ENSMUST00000202409]
[ENSMUST00000202638]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042954
AA Change: C200F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102
AA Change: C200F
| 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 |
probably damaging
Transcript: ENSMUST00000202409
AA Change: C200F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102
AA Change: C200F
| 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 damaging
Transcript: ENSMUST00000202638
AA Change: C200F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102
AA Change: C200F
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
G |
4: 86,260,515 (GRCm39) |
I909V |
possibly damaging |
Het |
| Alkal2 |
C |
A |
12: 30,937,089 (GRCm39) |
H101N |
probably damaging |
Het |
| Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
| Col4a1 |
G |
A |
8: 11,286,456 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
A |
5: 150,293,645 (GRCm39) |
V446E |
probably damaging |
Het |
| Gpc2 |
C |
A |
5: 138,277,169 (GRCm39) |
R86L |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,139,543 (GRCm39) |
C58* |
probably null |
Het |
| Ltbp2 |
T |
C |
12: 84,878,573 (GRCm39) |
R309G |
probably benign |
Het |
| Mapkapk5 |
T |
C |
5: 121,675,166 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
G |
A |
4: 81,210,749 (GRCm39) |
A1665V |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,353,297 (GRCm39) |
T470A |
probably benign |
Het |
| Mypn |
T |
A |
10: 63,028,202 (GRCm39) |
D287V |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,563,171 (GRCm39) |
L1312P |
probably damaging |
Het |
| Or4a77 |
C |
T |
2: 89,487,420 (GRCm39) |
V122M |
probably damaging |
Het |
| Or6k14 |
T |
C |
1: 173,927,933 (GRCm39) |
M303T |
probably benign |
Het |
| Pparg |
A |
G |
6: 115,440,100 (GRCm39) |
I225V |
probably benign |
Het |
| Pspn |
T |
C |
17: 57,306,629 (GRCm39) |
E100G |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,361,267 (GRCm39) |
V50I |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,898,395 (GRCm39) |
|
probably benign |
Het |
| Ubiad1 |
A |
G |
4: 148,520,814 (GRCm39) |
F270S |
probably benign |
Het |
| Vmn1r185 |
T |
C |
7: 26,311,116 (GRCm39) |
I130V |
probably benign |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,538 (GRCm39) |
C249* |
probably null |
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 |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation