Incidental Mutation 'IGL00803:Poln'
ID 13088
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) question?
Stock # IGL00803
Quality Score
Status
Chromosome 5
Chromosomal Location 34164523-34326792 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34280104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 253 (L253I)
Ref Sequence ENSEMBL: ENSMUSP00000143793 (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: L253I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102
AA Change: L253I

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 noncoding transcript
Transcript: ENSMUST00000202325
Predicted Effect probably benign
Transcript: ENSMUST00000202409
AA Change: L253I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102
AA Change: L253I

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 probably benign
Transcript: ENSMUST00000202638
AA Change: L253I

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102
AA Change: L253I

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
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcorl1 C A X: 47,458,429 (GRCm39) T654K probably damaging Het
Cwf19l2 T A 9: 3,430,810 (GRCm39) S381T probably benign Het
Cyp3a25 A T 5: 145,938,253 (GRCm39) probably benign Het
Derl2 A T 11: 70,904,280 (GRCm39) V171E probably benign Het
Dst G A 1: 34,203,205 (GRCm39) V379I possibly damaging Het
Obp1a A C X: 77,134,332 (GRCm39) M57R probably damaging Het
Ryr1 T A 7: 28,769,070 (GRCm39) Q2773L possibly damaging Het
Slc30a3 A G 5: 31,245,388 (GRCm39) S311P probably damaging Het
Srl G T 16: 4,301,084 (GRCm39) F662L probably null Het
Tchhl1 A G 3: 93,378,207 (GRCm39) T304A probably benign Het
Usp24 T C 4: 106,242,723 (GRCm39) probably benign Het
Other mutations in Poln
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06