Incidental Mutation 'IGL02480:Poli'
ID 295156
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Poli
Ensembl Gene ENSMUSG00000038425
Gene Name polymerase (DNA directed), iota
Synonyms Rad30b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02480
Quality Score
Status
Chromosome 18
Chromosomal Location 70641751-70663691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70658477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 86 (T86A)
Ref Sequence ENSEMBL: ENSMUSP00000123964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043286] [ENSMUST00000121674] [ENSMUST00000159389] [ENSMUST00000160713] [ENSMUST00000161542]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043286
AA Change: T109A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: T109A

DomainStartEndE-ValueType
Pfam:IMS 1 168 5.4e-39 PFAM
Pfam:IMS_HHH 180 212 1.2e-9 PFAM
Pfam:IMS_C 247 379 1.7e-12 PFAM
PDB:2KWV|A 444 489 8e-23 PDB
low complexity region 532 546 N/A INTRINSIC
PDB:3AI4|A 623 674 4e-26 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000121674
AA Change: T172A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: T172A

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:IMS 53 231 1e-47 PFAM
Pfam:IMS_HHH 243 275 1.5e-9 PFAM
Pfam:IMS_C 312 441 2.5e-14 PFAM
PDB:2KWV|A 507 552 8e-23 PDB
low complexity region 595 609 N/A INTRINSIC
PDB:3AI4|A 686 737 5e-26 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000159389
AA Change: T86A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: T86A

DomainStartEndE-ValueType
Pfam:IMS 1 145 1.8e-29 PFAM
Pfam:IMS_HHH 157 189 1.7e-9 PFAM
Pfam:IMS_C 224 356 2.4e-12 PFAM
PDB:2KWV|A 421 466 7e-23 PDB
low complexity region 509 523 N/A INTRINSIC
PDB:3AI4|A 600 651 3e-26 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000160713
AA Change: T109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125467
Gene: ENSMUSG00000038425
AA Change: T109A

DomainStartEndE-ValueType
Pfam:IMS 1 127 5.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161542
AA Change: T109A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: T109A

DomainStartEndE-ValueType
Pfam:IMS 1 168 5.4e-39 PFAM
Pfam:IMS_HHH 180 212 1.2e-9 PFAM
Pfam:IMS_C 247 379 1.7e-12 PFAM
PDB:2KWV|A 444 489 8e-23 PDB
low complexity region 532 546 N/A INTRINSIC
PDB:3AI4|A 623 674 4e-26 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous mutation show normal somatic hypermutation of immunoglobulin variable genes and no significant increase in UV-induced epithelial skin tumor formation relative to controls; in contrast, formation of mesenchymal tumors by chronic UV irradiation is enhanced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,946,908 (GRCm39) I202K probably benign Het
Abcc1 T A 16: 14,221,869 (GRCm39) S169T possibly damaging Het
Acsm1 A T 7: 119,255,265 (GRCm39) I389F possibly damaging Het
Actn2 T A 13: 12,291,364 (GRCm39) Q680L probably benign Het
Ankrd13d G A 19: 4,321,491 (GRCm39) P404S possibly damaging Het
Ankrd46 G T 15: 36,484,142 (GRCm39) probably benign Het
Arfip1 A G 3: 84,455,239 (GRCm39) probably null Het
Asb15 A T 6: 24,570,745 (GRCm39) L574F probably damaging Het
Cym T C 3: 107,120,838 (GRCm39) I256V probably benign Het
Cyp3a44 C T 5: 145,731,715 (GRCm39) E144K possibly damaging Het
Efna1 T C 3: 89,179,902 (GRCm39) E109G probably benign Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
Eml1 C A 12: 108,487,955 (GRCm39) Q556K probably benign Het
Eml5 T G 12: 98,842,502 (GRCm39) T199P probably damaging Het
Entr1 T A 2: 26,275,132 (GRCm39) H342L probably damaging Het
Etl4 A C 2: 20,793,335 (GRCm39) M687L probably damaging Het
Fam199x C A X: 135,950,788 (GRCm39) T56K probably damaging Het
Fat4 A G 3: 39,064,579 (GRCm39) D4845G probably damaging Het
Gm4987 T A X: 45,544,973 (GRCm39) noncoding transcript Het
Gm5828 C A 1: 16,839,766 (GRCm39) noncoding transcript Het
Gm5930 T C 14: 44,575,087 (GRCm39) Y68C probably benign Het
Gucy1a1 C T 3: 82,005,040 (GRCm39) V582M probably damaging Het
Haghl G T 17: 26,002,033 (GRCm39) A220E probably damaging Het
Hsf5 G A 11: 87,522,483 (GRCm39) A359T possibly damaging Het
Igsf9 C A 1: 172,324,480 (GRCm39) D799E possibly damaging Het
Igsf9 A T 1: 172,312,345 (GRCm39) probably benign Het
Itga1 A T 13: 115,124,184 (GRCm39) F703I probably damaging Het
Kcna6 G A 6: 126,715,531 (GRCm39) P453S probably damaging Het
Lzic A T 4: 149,571,260 (GRCm39) N15I probably damaging Het
Or1j10 T G 2: 36,267,504 (GRCm39) C239G probably damaging Het
Or2n1d A G 17: 38,646,314 (GRCm39) R89G probably benign Het
Or4f54 A G 2: 111,122,858 (GRCm39) I82V possibly damaging Het
Or5p78 C T 7: 108,212,018 (GRCm39) T168I probably benign Het
P4ha1 T C 10: 59,179,574 (GRCm39) Y141H probably damaging Het
Paxx G A 2: 25,350,024 (GRCm39) P164S probably damaging Het
Pgd A G 4: 149,241,075 (GRCm39) V278A probably damaging Het
Pik3c2g A G 6: 139,798,526 (GRCm39) Y352C probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Psd2 G A 18: 36,139,136 (GRCm39) R528H probably damaging Het
Ptchd4 G T 17: 42,813,431 (GRCm39) C444F probably benign Het
Ptpra C A 2: 130,346,181 (GRCm39) T114K probably benign Het
Rho A G 6: 115,912,505 (GRCm39) N123S probably benign Het
Setd5 A G 6: 113,120,770 (GRCm39) D993G probably damaging Het
Slc1a2 T C 2: 102,566,411 (GRCm39) L38P probably damaging Het
Slc2a7 G A 4: 150,244,569 (GRCm39) V346M possibly damaging Het
Slc43a1 A G 2: 84,669,928 (GRCm39) I7V probably benign Het
Spag9 C T 11: 93,999,413 (GRCm39) Q691* probably null Het
Timmdc1 A T 16: 38,342,763 (GRCm39) V45D probably null Het
Tlr8 T A X: 166,027,179 (GRCm39) H557L probably damaging Het
Other mutations in Poli
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Poli APN 18 70,658,561 (GRCm39) missense probably damaging 1.00
IGL01506:Poli APN 18 70,642,802 (GRCm39) missense probably benign
IGL01958:Poli APN 18 70,659,657 (GRCm39) missense possibly damaging 0.46
IGL02375:Poli APN 18 70,656,363 (GRCm39) missense probably damaging 1.00
IGL02385:Poli APN 18 70,659,645 (GRCm39) missense possibly damaging 0.93
R0113:Poli UTSW 18 70,661,829 (GRCm39) missense probably damaging 1.00
R0184:Poli UTSW 18 70,655,802 (GRCm39) missense probably damaging 1.00
R0348:Poli UTSW 18 70,656,452 (GRCm39) missense probably benign 0.00
R0710:Poli UTSW 18 70,655,961 (GRCm39) splice site probably null
R1004:Poli UTSW 18 70,658,509 (GRCm39) missense probably benign 0.31
R1264:Poli UTSW 18 70,650,574 (GRCm39) missense probably benign 0.05
R1660:Poli UTSW 18 70,642,535 (GRCm39) missense probably damaging 0.99
R1992:Poli UTSW 18 70,642,058 (GRCm39) missense probably damaging 0.98
R2915:Poli UTSW 18 70,655,771 (GRCm39) critical splice donor site probably null
R4531:Poli UTSW 18 70,650,548 (GRCm39) missense probably benign 0.41
R4816:Poli UTSW 18 70,655,822 (GRCm39) missense probably damaging 1.00
R5393:Poli UTSW 18 70,650,499 (GRCm39) nonsense probably null
R5404:Poli UTSW 18 70,642,503 (GRCm39) missense probably benign 0.15
R5559:Poli UTSW 18 70,642,356 (GRCm39) missense probably benign 0.02
R5957:Poli UTSW 18 70,650,511 (GRCm39) missense probably benign
R6045:Poli UTSW 18 70,650,540 (GRCm39) missense possibly damaging 0.75
R6385:Poli UTSW 18 70,663,072 (GRCm39) start gained probably benign
R6807:Poli UTSW 18 70,663,222 (GRCm39) splice site probably null
R7024:Poli UTSW 18 70,649,920 (GRCm39) missense possibly damaging 0.68
R7067:Poli UTSW 18 70,642,488 (GRCm39) nonsense probably null
R7452:Poli UTSW 18 70,642,049 (GRCm39) missense possibly damaging 0.94
R7653:Poli UTSW 18 70,642,698 (GRCm39) missense probably benign
R7685:Poli UTSW 18 70,658,590 (GRCm39) missense probably benign 0.13
R7857:Poli UTSW 18 70,642,225 (GRCm39) missense probably benign 0.01
R7872:Poli UTSW 18 70,655,891 (GRCm39) missense probably damaging 1.00
R9184:Poli UTSW 18 70,642,250 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16