Incidental Mutation 'IGL00911:Poll'
ID 29493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Poll
Ensembl Gene ENSMUSG00000025218
Gene Name polymerase (DNA directed), lambda
Synonyms 1110003P06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00911
Quality Score
Status
Chromosome 19
Chromosomal Location 45540714-45548970 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45542040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 422 (T422K)
Ref Sequence ENSEMBL: ENSMUSP00000026239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026239]
AlphaFold Q9QXE2
Predicted Effect probably damaging
Transcript: ENSMUST00000026239
AA Change: T422K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026239
Gene: ENSMUSG00000025218
AA Change: T422K

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
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm T C 5: 90,673,450 (GRCm39) V234A probably benign Het
Alas1 T A 9: 106,113,671 (GRCm39) I525F probably benign Het
Ambra1 T A 2: 91,598,027 (GRCm39) probably benign Het
Apbb2 G A 5: 66,608,855 (GRCm39) T264M probably damaging Het
Arb2a T A 13: 78,100,094 (GRCm39) probably benign Het
Arhgap40 A G 2: 158,376,636 (GRCm39) probably benign Het
Chd9 C T 8: 91,778,320 (GRCm39) P2793L probably damaging Het
Clstn1 T G 4: 149,727,648 (GRCm39) probably benign Het
Cyp2f2 T C 7: 26,821,354 (GRCm39) V13A probably damaging Het
Dnah1 C T 14: 31,026,391 (GRCm39) probably null Het
Eogt A T 6: 97,096,961 (GRCm39) V349E probably damaging Het
Epb41 T C 4: 131,717,095 (GRCm39) D353G possibly damaging Het
Fbxo38 T A 18: 62,663,871 (GRCm39) I207F possibly damaging Het
Frem2 T C 3: 53,479,883 (GRCm39) S1937G probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kcnh3 G T 15: 99,130,882 (GRCm39) G500* probably null Het
Khdc1b A T 1: 21,454,578 (GRCm39) K94* probably null Het
Lpcat2 T C 8: 93,617,338 (GRCm39) Y367H probably damaging Het
Lrrd1 A C 5: 3,915,689 (GRCm39) N762T probably benign Het
Mbl2 T A 19: 30,215,794 (GRCm39) D100E possibly damaging Het
Mthfr T G 4: 148,125,759 (GRCm39) S31A probably benign Het
Nrp1 T A 8: 129,202,688 (GRCm39) S558T probably benign Het
Nrxn3 T C 12: 90,171,366 (GRCm39) L1254P probably damaging Het
Or2ag12 A T 7: 106,277,040 (GRCm39) Y218N probably damaging Het
Pabpc1l C A 2: 163,884,343 (GRCm39) T360K probably damaging Het
Pcgf1 G A 6: 83,057,606 (GRCm39) G92S probably damaging Het
Penk T C 4: 4,134,347 (GRCm39) Y100C probably damaging Het
Pik3r1 T C 13: 101,894,169 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,187,971 (GRCm39) T3446S probably benign Het
Plcg2 G A 8: 118,313,254 (GRCm39) D473N probably benign Het
Skint3 T A 4: 112,113,106 (GRCm39) probably benign Het
Stab2 C A 10: 86,805,617 (GRCm39) C243F probably damaging Het
Supt6 T C 11: 78,122,007 (GRCm39) E215G possibly damaging Het
Tas1r2 C A 4: 139,387,602 (GRCm39) P354T probably benign Het
Tenm2 G A 11: 35,899,560 (GRCm39) Q2533* probably null Het
Tmem121 C T 12: 113,151,851 (GRCm39) A23V probably damaging Het
Other mutations in Poll
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6090:Poll UTSW 19 45,544,436 (GRCm39) missense probably benign
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
Posted On 2013-04-17