Incidental Mutation 'R2915:Poli'
ID 254871
Institutional Source Beutler Lab
Gene Symbol Poli
Ensembl Gene ENSMUSG00000038425
Gene Name polymerase (DNA directed), iota
Synonyms Rad30b
MMRRC Submission 040502-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 70641751-70663691 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 70655771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000043286
SMART Domains Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425

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 null
Transcript: ENSMUST00000121674
SMART Domains Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425

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 null
Transcript: ENSMUST00000159389
SMART Domains Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425

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 null
Transcript: ENSMUST00000161542
SMART Domains Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425

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
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
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
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCTAACTGGGTAATTATCCCCTC -3'
(R):5'- AACTGCCAAGCGTCTCGAAG -3'

Sequencing Primer
(F):5'- CCACTTTCCAAATCACTGAATTAGTC -3'
(R):5'- CGTCTCGAAGTTCTGGGAATCAATAG -3'
Posted On 2014-12-29