Incidental Mutation 'R5456:Poln'
| ID |
432750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poln
|
| Ensembl Gene |
ENSMUSG00000045102 |
| Gene Name |
DNA polymerase N |
| Synonyms |
POL4P |
| MMRRC Submission |
043019-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5456 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
34164523-34326792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34164786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 845
(L845Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042954]
[ENSMUST00000056355]
[ENSMUST00000202409]
[ENSMUST00000202638]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042954
AA Change: L863Q
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102
AA Change: L863Q
| 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 benign
Transcript: ENSMUST00000056355
|
| SMART Domains |
Protein: ENSMUSP00000059313
Gene: ENSMUSG00000048142
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
Pfam:Acetyltransf_10
|
146 |
261 |
9.4e-13 |
PFAM |
|
Pfam:Acetyltransf_8
|
156 |
280 |
3e-11 |
PFAM |
|
Pfam:Acetyltransf_7
|
177 |
263 |
2.8e-13 |
PFAM |
|
Pfam:Acetyltransf_1
|
184 |
262 |
7.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201251
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202409
AA Change: L845Q
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102
AA Change: L845Q
| 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: L819Q
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102
AA Change: L819Q
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202825
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,889,759 (GRCm39) |
D37G |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,118,892 (GRCm39) |
F1081S |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,431,989 (GRCm39) |
I128L |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,112,170 (GRCm39) |
Q65* |
probably null |
Het |
| Baat |
C |
T |
4: 49,502,949 (GRCm39) |
V58I |
possibly damaging |
Het |
| Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
| Bend3 |
T |
C |
10: 43,386,542 (GRCm39) |
Y312H |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,582,295 (GRCm39) |
Y287F |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,575,464 (GRCm39) |
I193V |
probably benign |
Het |
| Commd3 |
A |
G |
2: 18,678,968 (GRCm39) |
E95G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,190,486 (GRCm39) |
D215G |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,571 (GRCm39) |
Y525C |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,877 (GRCm39) |
T409A |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,776 (GRCm39) |
I301F |
probably benign |
Het |
| Hemgn |
C |
T |
4: 46,396,571 (GRCm39) |
V222M |
probably damaging |
Het |
| Igsf3 |
C |
T |
3: 101,334,537 (GRCm39) |
H205Y |
probably benign |
Het |
| Mfsd1 |
T |
C |
3: 67,497,166 (GRCm39) |
I147T |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,962,133 (GRCm39) |
D177G |
probably damaging |
Het |
| Nat2 |
G |
A |
8: 67,954,225 (GRCm39) |
V112I |
probably damaging |
Het |
| Or4c10b |
G |
A |
2: 89,711,602 (GRCm39) |
G144E |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,869,580 (GRCm39) |
S127P |
probably damaging |
Het |
| Ppm1f |
T |
A |
16: 16,741,610 (GRCm39) |
D361E |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,692,381 (GRCm39) |
|
probably null |
Het |
| Rarb |
G |
A |
14: 16,436,843 (GRCm38) |
T226I |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,357,378 (GRCm39) |
K205E |
probably benign |
Het |
| Sh3glb1 |
T |
A |
3: 144,415,114 (GRCm39) |
I75L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,705,716 (GRCm39) |
S236L |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,369,815 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,665 (GRCm39) |
V712A |
possibly damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,523 (GRCm39) |
D180G |
possibly damaging |
Het |
| Tst |
T |
C |
15: 78,284,158 (GRCm39) |
E223G |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,263 (GRCm39) |
I397M |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,269,500 (GRCm39) |
D481G |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,834,729 (GRCm39) |
M1686K |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,806,837 (GRCm39) |
H81R |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCCAGTTGTCCCACAAAG -3'
(R):5'- AATGTGTGGCTGCTCTCTC -3'
Sequencing Primer
(F):5'- GTATCAGTTTAGCCCTCACAGAG -3'
(R):5'- GGCTGCTCTCTCTGTAGAAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation