Incidental Mutation 'R6484:Poln'
| ID |
517245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poln
|
| Ensembl Gene |
ENSMUSG00000045102 |
| Gene Name |
DNA polymerase N |
| Synonyms |
POL4P |
| MMRRC Submission |
044616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6484 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34164523-34326792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34286857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 104
(A104T)
|
| 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 benign
Transcript: ENSMUST00000042954
AA Change: A104T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102
AA Change: A104T
| 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 benign
Transcript: ENSMUST00000202409
AA Change: A104T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102
AA Change: A104T
| 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 benign
Transcript: ENSMUST00000202638
AA Change: A104T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102
AA Change: A104T
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
A |
T |
8: 80,416,952 (GRCm39) |
M353K |
probably damaging |
Het |
| Adgre4 |
G |
A |
17: 56,109,036 (GRCm39) |
V348M |
possibly damaging |
Het |
| Alg8 |
T |
C |
7: 97,032,135 (GRCm39) |
V228A |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,169,921 (GRCm39) |
V1548A |
probably damaging |
Het |
| Btbd8 |
T |
C |
5: 107,651,451 (GRCm39) |
S115P |
probably benign |
Het |
| Car8 |
A |
G |
4: 8,189,362 (GRCm39) |
F151L |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,144,775 (GRCm39) |
Q546R |
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,658,868 (GRCm39) |
V414M |
possibly damaging |
Het |
| Col6a3 |
C |
A |
1: 90,719,645 (GRCm39) |
|
probably null |
Het |
| Cyp51 |
G |
A |
5: 4,136,627 (GRCm39) |
T389M |
probably benign |
Het |
| Cyren |
G |
A |
6: 34,851,551 (GRCm39) |
S101L |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,481 (GRCm39) |
T126A |
probably benign |
Het |
| Dscc1 |
T |
A |
15: 54,943,686 (GRCm39) |
K395* |
probably null |
Het |
| Dthd1 |
A |
G |
5: 62,971,675 (GRCm39) |
N166S |
probably benign |
Het |
| Eefsec |
C |
G |
6: 88,274,770 (GRCm39) |
W398S |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,115,130 (GRCm39) |
H214L |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,458 (GRCm39) |
I443V |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,231,935 (GRCm39) |
V1984A |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,468,983 (GRCm39) |
S280P |
probably damaging |
Het |
| Il12rb1 |
C |
T |
8: 71,262,348 (GRCm39) |
|
probably null |
Het |
| Itgax |
T |
A |
7: 127,732,890 (GRCm39) |
C255S |
probably benign |
Het |
| Kifc5b |
T |
C |
17: 27,143,746 (GRCm39) |
V506A |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,980,372 (GRCm39) |
E54G |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
| Mctp1 |
A |
G |
13: 76,836,744 (GRCm39) |
I104V |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,676,843 (GRCm39) |
E552G |
possibly damaging |
Het |
| Mpc1 |
A |
G |
17: 8,515,788 (GRCm39) |
E160G |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,590,293 (GRCm39) |
I76N |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,470,563 (GRCm39) |
I1032F |
probably benign |
Het |
| Olfml2a |
G |
A |
2: 38,849,780 (GRCm39) |
V499I |
probably damaging |
Het |
| Or2h1 |
T |
A |
17: 37,404,158 (GRCm39) |
I203F |
probably benign |
Het |
| Or4f58 |
A |
T |
2: 111,851,764 (GRCm39) |
L145* |
probably null |
Het |
| Or5b105 |
A |
G |
19: 13,080,431 (GRCm39) |
V79A |
probably benign |
Het |
| P2ry12 |
A |
G |
3: 59,124,754 (GRCm39) |
L307P |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
| Phox2b |
A |
G |
5: 67,255,044 (GRCm39) |
I135T |
possibly damaging |
Het |
| Prkce |
A |
G |
17: 86,798,237 (GRCm39) |
D342G |
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,733,764 (GRCm39) |
F885I |
possibly damaging |
Het |
| Rcbtb2 |
A |
T |
14: 73,414,490 (GRCm39) |
S434C |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,451,020 (GRCm39) |
V356A |
probably benign |
Het |
| Rln1 |
A |
G |
19: 29,311,902 (GRCm39) |
F32S |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,677,269 (GRCm39) |
L3194P |
possibly damaging |
Het |
| Sat2 |
T |
C |
11: 69,513,353 (GRCm39) |
V34A |
probably damaging |
Het |
| Scgb3a2 |
T |
C |
18: 43,899,784 (GRCm39) |
I24T |
possibly damaging |
Het |
| Slc35e2 |
T |
G |
4: 155,697,104 (GRCm39) |
V206G |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,552,125 (GRCm39) |
M890L |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,887,703 (GRCm39) |
L2042P |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,451,600 (GRCm39) |
V9E |
probably damaging |
Het |
| Tbc1d23 |
C |
T |
16: 56,998,379 (GRCm39) |
V520M |
probably damaging |
Het |
| Thumpd2 |
T |
C |
17: 81,361,617 (GRCm39) |
E203G |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,135 (GRCm39) |
D707G |
probably damaging |
Het |
| Tlr12 |
T |
A |
4: 128,509,847 (GRCm39) |
D801V |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,763,525 (GRCm39) |
N342K |
possibly damaging |
Het |
| Vmn1r191 |
A |
C |
13: 22,362,918 (GRCm39) |
F279V |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,540 (GRCm39) |
C630* |
probably null |
Het |
| Zbtb1 |
C |
T |
12: 76,432,665 (GRCm39) |
T217I |
probably damaging |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
C |
T |
11: 72,786,097 (GRCm39) |
P2090S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGCTGTGTGTTTACTTGC -3'
(R):5'- CTCTCGTTATCTTTGAGAAGCTGTATC -3'
Sequencing Primer
(F):5'- TGCTTTTTCTGAGGATTTACTACATG -3'
(R):5'- GAAGCTGTATCAAAAATGCACTTGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation