Incidental Mutation 'R8315:Poln'
ID |
641625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Poln
|
Ensembl Gene |
ENSMUSG00000045102 |
Gene Name |
DNA polymerase N |
Synonyms |
POL4P |
MMRRC Submission |
067720-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8315 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
34164523-34326792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34266717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 480
(M480T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036110
(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: M480T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000036110 Gene: ENSMUSG00000045102 AA Change: M480T
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: ENSMUST00000202409
AA Change: M480T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000144578 Gene: ENSMUSG00000045102 AA Change: M480T
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: M480T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000143793 Gene: ENSMUSG00000045102 AA Change: M480T
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,328,460 (GRCm39) |
E3511V |
probably null |
Het |
Abca13 |
A |
G |
11: 9,535,502 (GRCm39) |
T4709A |
probably benign |
Het |
Aff1 |
G |
T |
5: 103,958,956 (GRCm39) |
V342F |
probably damaging |
Het |
Ahnak2 |
T |
A |
12: 112,745,756 (GRCm39) |
Q1698L |
|
Het |
Ajap1 |
G |
T |
4: 153,516,813 (GRCm39) |
T176K |
probably damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Cct3 |
A |
G |
3: 88,220,564 (GRCm39) |
T259A |
probably benign |
Het |
Cdk8 |
C |
T |
5: 146,205,061 (GRCm39) |
L21F |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,262,686 (GRCm39) |
R262G |
probably benign |
Het |
Csf2rb |
G |
A |
15: 78,231,581 (GRCm39) |
G494D |
possibly damaging |
Het |
Cstf3 |
G |
T |
2: 104,420,926 (GRCm39) |
|
probably benign |
Het |
Cyp4f39 |
A |
G |
17: 32,701,176 (GRCm39) |
D222G |
probably benign |
Het |
Dcp2 |
T |
C |
18: 44,529,071 (GRCm39) |
I62T |
probably benign |
Het |
Dnaaf9 |
ATCCTCCTCCTCCTCCTCC |
ATCCTCCTCCTCCTCC |
2: 130,612,655 (GRCm39) |
|
probably benign |
Het |
Dpp8 |
T |
C |
9: 64,988,133 (GRCm39) |
*893Q |
probably null |
Het |
Dpyd |
A |
T |
3: 119,108,534 (GRCm39) |
H859L |
probably benign |
Het |
Dst |
T |
C |
1: 34,323,501 (GRCm39) |
|
probably null |
Het |
Dynlt2a2 |
A |
G |
17: 15,190,717 (GRCm39) |
Y81H |
probably damaging |
Het |
Egfr |
A |
G |
11: 16,825,027 (GRCm39) |
I456V |
probably benign |
Het |
Elf3 |
A |
G |
1: 135,184,314 (GRCm39) |
F185L |
probably benign |
Het |
Emx1 |
A |
G |
6: 85,171,088 (GRCm39) |
T164A |
possibly damaging |
Het |
Fras1 |
G |
A |
5: 96,891,041 (GRCm39) |
V2857M |
probably damaging |
Het |
Gba2 |
AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA |
AAA |
4: 43,569,937 (GRCm39) |
|
probably null |
Het |
Gda |
T |
A |
19: 21,394,435 (GRCm39) |
T215S |
probably benign |
Het |
Gm14443 |
C |
T |
2: 175,013,640 (GRCm39) |
|
probably null |
Het |
Gpr152 |
C |
T |
19: 4,193,469 (GRCm39) |
P337S |
probably damaging |
Het |
H2-T10 |
A |
G |
17: 36,429,905 (GRCm39) |
I296T |
probably benign |
Het |
Hoxd11 |
G |
A |
2: 74,513,466 (GRCm39) |
E244K |
probably benign |
Het |
Inka1 |
C |
A |
9: 107,861,506 (GRCm39) |
S270I |
probably damaging |
Het |
Kazn |
C |
T |
4: 141,869,002 (GRCm39) |
D325N |
|
Het |
Lama2 |
T |
C |
10: 27,298,655 (GRCm39) |
N147S |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,119,167 (GRCm39) |
N817K |
probably benign |
Het |
Met |
T |
C |
6: 17,533,956 (GRCm39) |
S636P |
probably damaging |
Het |
Mrgpra3 |
A |
T |
7: 47,251,051 (GRCm39) |
M1K |
probably null |
Het |
Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
Or10ag2 |
C |
A |
2: 87,248,995 (GRCm39) |
A201D |
probably damaging |
Het |
Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
Or8c13 |
T |
C |
9: 38,091,505 (GRCm39) |
T205A |
probably benign |
Het |
Pbx2 |
A |
G |
17: 34,811,707 (GRCm39) |
I60M |
probably damaging |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,761,965 (GRCm39) |
N164S |
probably benign |
Het |
Ppp2r2a |
T |
C |
14: 67,261,177 (GRCm39) |
N181S |
probably damaging |
Het |
Ppp3r2 |
A |
C |
4: 49,681,705 (GRCm39) |
F82V |
probably damaging |
Het |
Prox2 |
A |
G |
12: 85,142,182 (GRCm39) |
V7A |
probably benign |
Het |
Ptpn3 |
A |
T |
4: 57,270,063 (GRCm39) |
I33K |
possibly damaging |
Het |
Rad21l |
A |
T |
2: 151,497,160 (GRCm39) |
M318K |
probably benign |
Het |
Rftn1 |
A |
G |
17: 50,309,665 (GRCm39) |
S445P |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Rtp4 |
C |
T |
16: 23,431,998 (GRCm39) |
P177S |
possibly damaging |
Het |
Saa4 |
T |
A |
7: 46,379,052 (GRCm39) |
N96I |
possibly damaging |
Het |
Shb |
A |
G |
4: 45,489,079 (GRCm39) |
Y266H |
probably damaging |
Het |
Slc45a4 |
T |
G |
15: 73,461,405 (GRCm39) |
Y88S |
probably damaging |
Het |
Tbccd1 |
A |
G |
16: 22,641,564 (GRCm39) |
M312T |
probably damaging |
Het |
Tecta |
C |
T |
9: 42,299,121 (GRCm39) |
|
probably null |
Het |
Tle1 |
A |
T |
4: 72,044,428 (GRCm39) |
C526* |
probably null |
Het |
Tmem87a |
C |
T |
2: 120,234,441 (GRCm39) |
G34D |
probably damaging |
Het |
Trav13d-1 |
C |
A |
14: 53,089,059 (GRCm39) |
Q23K |
probably benign |
Het |
Txndc11 |
G |
T |
16: 10,893,465 (GRCm39) |
T755N |
possibly damaging |
Het |
Vmn1r223 |
A |
G |
13: 23,434,339 (GRCm39) |
D311G |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,643,932 (GRCm39) |
Y826F |
possibly damaging |
Het |
Wdr90 |
A |
T |
17: 26,064,399 (GRCm39) |
M1824K |
probably benign |
Het |
Zfp523 |
G |
A |
17: 28,421,562 (GRCm39) |
G440D |
possibly 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 |
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 |
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'- TGGCTGTAATCTCAGTACTTGG -3'
(R):5'- TGTAAGCTGTAACCCATACCTTTG -3'
Sequencing Primer
(F):5'- ATCTCAGTACTTGGGAAGGTGAGATG -3'
(R):5'- GCCATCACAAGTCAATATGTATGC -3'
|
Posted On |
2020-07-28 |