Incidental Mutation 'R5404:Poli'
ID 428650
Institutional Source Beutler Lab
Gene Symbol Poli
Ensembl Gene ENSMUSG00000038425
Gene Name polymerase (DNA directed), iota
Synonyms Rad30b
MMRRC Submission 042975-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5404 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 70641751-70663691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70642503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 503 (S503P)
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 benign
Transcript: ENSMUST00000043286
AA Change: S503P

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: S503P

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: S566P

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: S566P

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: S480P

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: S480P

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 benign
Transcript: ENSMUST00000161542
AA Change: S503P

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: S503P

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T C 15: 60,791,545 (GRCm39) H297R probably benign Het
Ccnk A T 12: 108,161,882 (GRCm39) K262N possibly damaging Het
Clec4b2 A T 6: 123,158,308 (GRCm39) Y58F probably benign Het
Cp A C 3: 20,043,292 (GRCm39) T1027P possibly damaging Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Cry1 T C 10: 85,020,283 (GRCm39) N18S probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock10 A G 1: 80,481,630 (GRCm39) probably benign Het
Fance A T 17: 28,537,034 (GRCm39) R58W probably null Het
Fermt1 T C 2: 132,776,789 (GRCm39) D233G possibly damaging Het
Gabpa T A 16: 84,657,351 (GRCm39) Y409N probably damaging Het
Gpr162 A G 6: 124,838,606 (GRCm39) S15P possibly damaging Het
Grid2 T A 6: 63,907,894 (GRCm39) I178N probably damaging Het
Il17re T C 6: 113,446,063 (GRCm39) V233A probably benign Het
Lemd3 G A 10: 120,767,863 (GRCm39) Q672* probably null Het
Myh15 A G 16: 48,980,341 (GRCm39) T1488A probably benign Het
Narf T A 11: 121,133,452 (GRCm39) H84Q probably benign Het
Nedd1 C T 10: 92,552,054 (GRCm39) V69I probably benign Het
Nfil3 G A 13: 53,122,091 (GRCm39) S271F probably damaging Het
Npc1 A G 18: 12,346,356 (GRCm39) L280P possibly damaging Het
Or2n1e T A 17: 38,586,517 (GRCm39) L285* probably null Het
Or4p20 C T 2: 88,254,145 (GRCm39) V75M probably damaging Het
Or51a25 T A 7: 102,372,807 (GRCm39) I297F possibly damaging Het
Rbm5 T C 9: 107,642,752 (GRCm39) E94G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rps6ka5 T C 12: 100,582,352 (GRCm39) I173M probably damaging Het
Slc40a1 A G 1: 45,951,488 (GRCm39) L223P probably damaging Het
Smg1 T C 7: 117,806,131 (GRCm39) K213E probably damaging Het
Spem1 T A 11: 69,711,763 (GRCm39) K300N probably damaging Het
Tchh A G 3: 93,354,982 (GRCm39) E1474G unknown Het
Tenm4 A T 7: 96,543,887 (GRCm39) R1968W probably damaging Het
Tshz2 A T 2: 169,726,240 (GRCm39) M279L probably benign Het
Tuba3a G T 6: 125,258,555 (GRCm39) T145K 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
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
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
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'- GAAAACTGGCATCCTTGAGAC -3'
(R):5'- AGACACAAGTGACTTGCCCC -3'

Sequencing Primer
(F):5'- ACTGGCATCCTTGAGACTCAGTAG -3'
(R):5'- AAGTGACTTGCCCCTCCAG -3'
Posted On 2016-09-06