Incidental Mutation 'IGL02375:Poli'
ID 291059
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 # IGL02375
Quality Score
Status
Chromosome 18
Chromosomal Location 70641751-70663691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70656363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 155 (G155R)
Ref Sequence ENSEMBL: ENSMUSP00000124877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043286] [ENSMUST00000121674] [ENSMUST00000159389] [ENSMUST00000160713] [ENSMUST00000161542]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043286
AA Change: G155R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: G155R

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 damaging
Transcript: ENSMUST00000121674
AA Change: G218R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: G218R

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 damaging
Transcript: ENSMUST00000159389
AA Change: G132R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: G132R

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
SMART Domains Protein: ENSMUSP00000125467
Gene: ENSMUSG00000038425

DomainStartEndE-ValueType
Pfam:IMS 1 127 5.9e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161542
AA Change: G155R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: G155R

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,813 (GRCm39) K76N possibly damaging Het
Agxt A G 1: 93,063,425 (GRCm39) E109G probably damaging Het
Alcam T C 16: 52,109,299 (GRCm39) T325A probably benign Het
Apol7c T C 15: 77,413,049 (GRCm39) E67G probably damaging Het
Bco1 C A 8: 117,840,178 (GRCm39) S232Y probably benign Het
Cacna1c A T 6: 118,652,884 (GRCm39) V763D probably damaging Het
Ccdc15 T C 9: 37,215,628 (GRCm39) D618G probably damaging Het
Cimip1 A G 2: 173,364,496 (GRCm39) M14V probably benign Het
Col6a5 T C 9: 105,783,312 (GRCm39) N1603S unknown Het
Cyp4v3 A G 8: 45,761,411 (GRCm39) probably null Het
Eml5 A T 12: 98,810,346 (GRCm39) V870E probably damaging Het
Epn2 A G 11: 61,410,497 (GRCm39) V512A probably damaging Het
Farp2 A G 1: 93,504,185 (GRCm39) R321G probably damaging Het
Garin3 G T 11: 46,297,379 (GRCm39) V228L probably damaging Het
Gprasp1 T C X: 134,701,552 (GRCm39) S582P probably damaging Het
Grhl2 T C 15: 37,291,821 (GRCm39) V303A probably damaging Het
Grik1 A T 16: 87,743,444 (GRCm39) F594L probably damaging Het
Hivep1 A G 13: 42,309,925 (GRCm39) K722E probably benign Het
Htr5b G A 1: 121,455,564 (GRCm39) R119C probably damaging Het
Ifit2 T C 19: 34,551,737 (GRCm39) S426P probably benign Het
Kif13a T C 13: 46,978,698 (GRCm39) Y234C probably damaging Het
Mios T A 6: 8,222,598 (GRCm39) F511I probably benign Het
Mtfmt T C 9: 65,346,849 (GRCm39) W148R probably damaging Het
Myo1c C A 11: 75,552,400 (GRCm39) T391N probably benign Het
Nlrp1a A T 11: 71,004,339 (GRCm39) L710* probably null Het
Nlrp1b A G 11: 71,052,506 (GRCm39) I971T probably damaging Het
Nup43 A G 10: 7,549,358 (GRCm39) D171G probably damaging Het
Or5b12b A G 19: 12,861,305 (GRCm39) E20G probably benign Het
P2rx7 T C 5: 122,811,719 (GRCm39) probably benign Het
Pgap6 T A 17: 26,338,473 (GRCm39) Y512N probably benign Het
Rad9b T C 5: 122,471,405 (GRCm39) S220G possibly damaging Het
Rgn C T X: 20,416,700 (GRCm39) S28L probably damaging Het
Tcp11l2 G A 10: 84,440,932 (GRCm39) probably null Het
Tenm4 G A 7: 96,353,344 (GRCm39) V379I possibly damaging Het
Thsd7a A T 6: 12,343,264 (GRCm39) C1118S probably damaging Het
Trpm7 A G 2: 126,667,664 (GRCm39) Y776H probably damaging Het
Trpv4 T C 5: 114,774,418 (GRCm39) N222S probably benign Het
Tut1 C T 19: 8,941,403 (GRCm39) R397C probably damaging Het
Vmn1r72 T A 7: 11,403,672 (GRCm39) T259S probably benign Het
Wdr17 A G 8: 55,149,423 (GRCm39) S2P possibly 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
IGL02385:Poli APN 18 70,659,645 (GRCm39) missense possibly damaging 0.93
IGL02480:Poli APN 18 70,658,477 (GRCm39) missense probably benign 0.04
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