Incidental Mutation 'R6090:Poll'
ID 486165
Institutional Source Beutler Lab
Gene Symbol Poll
Ensembl Gene ENSMUSG00000025218
Gene Name polymerase (DNA directed), lambda
Synonyms 1110003P06Rik
MMRRC Submission 044247-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6090 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 45540714-45548970 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45544436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 328 (D328E)
Ref Sequence ENSEMBL: ENSMUSP00000026239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026239] [ENSMUST00000047057]
AlphaFold Q9QXE2
Predicted Effect probably benign
Transcript: ENSMUST00000026239
AA Change: D328E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026239
Gene: ENSMUSG00000025218
AA Change: D328E

DomainStartEndE-ValueType
PDB:2JW5|A 35 134 4e-35 PDB
Blast:BRCT 39 121 5e-32 BLAST
low complexity region 220 233 N/A INTRINSIC
POLXc 249 572 2.71e-79 SMART
HhH1 295 314 3.11e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047057
SMART Domains Protein: ENSMUSP00000045683
Gene: ENSMUSG00000041035

DomainStartEndE-ValueType
Pfam:DPCD 6 195 4.5e-92 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,624,972 (GRCm39) A450V probably benign Het
Abca8a T C 11: 109,954,048 (GRCm39) probably null Het
Adgrl3 A T 5: 81,660,173 (GRCm39) N246I probably damaging Het
Bmal2 T A 6: 146,731,194 (GRCm39) S500T possibly damaging Het
Cdipt A T 7: 126,576,131 (GRCm39) M29L possibly damaging Het
Chml G T 1: 175,514,624 (GRCm39) Y432* probably null Het
Clasp2 G T 9: 113,681,803 (GRCm39) V320L probably benign Het
Col12a1 G A 9: 79,599,675 (GRCm39) T826M probably damaging Het
Cpsf3 A G 12: 21,345,194 (GRCm39) I169V probably damaging Het
Dhx36 G A 3: 62,404,241 (GRCm39) T234M probably damaging Het
Dhx57 A G 17: 80,571,375 (GRCm39) probably null Het
Dnah1 A T 14: 30,991,382 (GRCm39) I3132N possibly damaging Het
Fbxw20 G T 9: 109,052,431 (GRCm39) Q231K probably benign Het
Gfod1 G T 13: 43,354,437 (GRCm39) Y179* probably null Het
Glg1 T A 8: 111,907,667 (GRCm39) I510F probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gse1 C A 8: 121,297,908 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Klrd1 T C 6: 129,572,499 (GRCm39) L97P probably damaging Het
Lgmn A T 12: 102,366,413 (GRCm39) M240K probably damaging Het
Lrp1b A G 2: 41,075,880 (GRCm39) probably null Het
Notch2 A T 3: 98,042,693 (GRCm39) R1353* probably null Het
Or2d2b A G 7: 106,705,456 (GRCm39) V204A possibly damaging Het
Or5t18 A C 2: 86,636,701 (GRCm39) V214G possibly damaging Het
Pcdhb14 G A 18: 37,581,659 (GRCm39) S255N probably benign Het
Pcgf2 C T 11: 97,581,817 (GRCm39) M25I possibly damaging Het
Pomgnt2 A T 9: 121,811,863 (GRCm39) L306Q probably damaging Het
Proser1 A T 3: 53,386,088 (GRCm39) M657L probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Rdh11 G T 12: 79,235,838 (GRCm39) P37T probably benign Het
Rsph10b A T 5: 143,913,946 (GRCm39) I286L probably benign Het
Septin4 G A 11: 87,480,343 (GRCm39) R238K possibly damaging Het
Sptan1 C T 2: 29,883,899 (GRCm39) R580C probably damaging Het
Stard9 T A 2: 120,524,135 (GRCm39) W777R probably damaging Het
Timd2 T C 11: 46,578,063 (GRCm39) T23A probably benign Het
Tmc4 A G 7: 3,674,052 (GRCm39) Y376H probably damaging Het
Tmem143 A G 7: 45,558,950 (GRCm39) I297M probably benign Het
Togaram1 A G 12: 65,014,575 (GRCm39) T609A probably benign Het
Tyw3 T C 3: 154,302,704 (GRCm39) H10R probably benign Het
Unc13b C A 4: 43,239,306 (GRCm39) H3456Q probably damaging Het
Zfp131 A T 13: 120,237,532 (GRCm39) H275Q probably damaging Het
Other mutations in Poll
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Poll APN 19 45,542,040 (GRCm39) missense probably damaging 0.99
IGL01369:Poll APN 19 45,542,115 (GRCm39) missense probably damaging 1.00
R0308:Poll UTSW 19 45,544,404 (GRCm39) missense probably damaging 1.00
R0374:Poll UTSW 19 45,546,309 (GRCm39) missense probably benign 0.21
R2090:Poll UTSW 19 45,547,277 (GRCm39) missense probably benign 0.24
R3721:Poll UTSW 19 45,542,016 (GRCm39) missense probably damaging 0.99
R3938:Poll UTSW 19 45,546,857 (GRCm39) unclassified probably benign
R4171:Poll UTSW 19 45,544,492 (GRCm39) missense probably damaging 1.00
R4626:Poll UTSW 19 45,543,563 (GRCm39) missense probably benign 0.02
R5990:Poll UTSW 19 45,541,594 (GRCm39) missense possibly damaging 0.91
R6433:Poll UTSW 19 45,542,043 (GRCm39) missense probably benign 0.00
R7023:Poll UTSW 19 45,547,277 (GRCm39) missense probably benign
R7436:Poll UTSW 19 45,541,496 (GRCm39) missense probably damaging 1.00
R8221:Poll UTSW 19 45,542,047 (GRCm39) missense probably damaging 0.99
R8546:Poll UTSW 19 45,546,416 (GRCm39) missense probably damaging 0.99
R9083:Poll UTSW 19 45,546,317 (GRCm39) missense probably benign 0.01
R9203:Poll UTSW 19 45,542,091 (GRCm39) missense probably benign 0.00
R9288:Poll UTSW 19 45,547,281 (GRCm39) missense probably benign 0.03
R9314:Poll UTSW 19 45,547,091 (GRCm39) missense probably benign
R9547:Poll UTSW 19 45,546,359 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AACAGAGGGACCCAGATTCC -3'
(R):5'- AAGGACAAGCTCCATATGGTTG -3'

Sequencing Primer
(F):5'- CCAGATTCCTGCAGGTGAACAG -3'
(R):5'- CTCCATATGGTTGCTGGGCTAC -3'
Posted On 2017-08-16