Incidental Mutation 'R4155:Poln'
ID 315081
Institutional Source Beutler Lab
Gene Symbol Poln
Ensembl Gene ENSMUSG00000045102
Gene Name DNA polymerase N
Synonyms POL4P
MMRRC Submission 040999-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4155 (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 G at 34166993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 755 (V755A)
Ref Sequence ENSEMBL: ENSMUSP00000143793 (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: V799A

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102
AA Change: V799A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000202409
AA Change: V781A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102
AA Change: V781A

DomainStartEndE-ValueType
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: V755A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102
AA Change: V755A

DomainStartEndE-ValueType
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: ENSMUST00000202741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202825
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik T A 3: 145,644,018 (GRCm39) F69I possibly damaging Het
Akt3 A G 1: 176,924,543 (GRCm39) I184T possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Armc2 A G 10: 41,887,863 (GRCm39) V40A probably damaging Het
Ash2l A G 8: 26,307,482 (GRCm39) Y485H probably damaging Het
Atr T A 9: 95,770,177 (GRCm39) C1202* probably null Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
Birc6 C A 17: 74,903,934 (GRCm39) S1242R probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Bsx A G 9: 40,787,632 (GRCm39) E102G probably benign Het
Casq2 A T 3: 102,040,418 (GRCm39) probably null Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Copa T G 1: 171,928,992 (GRCm39) N251K probably damaging Het
Cst8 C A 2: 148,641,996 (GRCm39) A31E possibly damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Fbn2 C A 18: 58,156,359 (GRCm39) E2487* probably null Het
Hoxd9 A G 2: 74,529,667 (GRCm39) I308V probably benign Het
Ica1l G A 1: 60,053,052 (GRCm39) A162V possibly damaging Het
Kcnj15 A T 16: 95,097,166 (GRCm39) K263* probably null Het
Mettl4 T C 17: 95,048,003 (GRCm39) M213V probably benign Het
Nalf1 T A 8: 9,283,023 (GRCm39) Y342F possibly damaging Het
Ncan C A 8: 70,562,727 (GRCm39) E510D possibly damaging Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Or14a259 T A 7: 86,013,270 (GRCm39) I92L probably benign Het
Or4c127 A G 2: 89,833,004 (GRCm39) S85G probably benign Het
Or52s19 T C 7: 103,008,363 (GRCm39) T13A probably benign Het
Or8d1b A T 9: 38,887,451 (GRCm39) T160S probably damaging Het
P2rx5 A G 11: 73,062,655 (GRCm39) T455A probably damaging Het
Pcdh1 T A 18: 38,336,159 (GRCm39) T159S probably damaging Het
Pou4f1 C T 14: 104,705,153 (GRCm39) S6N possibly damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Samd4 T A 14: 47,290,403 (GRCm39) M170K possibly damaging Het
Srgn A G 10: 62,333,613 (GRCm39) F55L possibly damaging Het
Tmcc1 C T 6: 116,110,765 (GRCm39) G176D probably benign Het
Tmem232 A T 17: 65,743,328 (GRCm39) M321K probably damaging Het
Tnfsf11 A G 14: 78,537,309 (GRCm39) M118T probably benign Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Ttc27 T G 17: 75,147,455 (GRCm39) I669S probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Usp34 T A 11: 23,367,676 (GRCm39) V1671E probably damaging Het
Wdr64 T A 1: 175,597,172 (GRCm39) L73H probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably damaging Het
Other mutations in Poln
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CTGTGCACAGAAGCTTCATG -3'
(R):5'- AGCTGTCTGATGATAAACAACCC -3'

Sequencing Primer
(F):5'- CACAGAAGCTTCATGGCTATTCTGG -3'
(R):5'- CCCAGATCATAGTGCCAGGATG -3'
Posted On 2015-05-14