Incidental Mutation 'IGL01369:Poll'
ID 76042
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 # IGL01369
Quality Score
Status
Chromosome 19
Chromosomal Location 45540714-45548970 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45542115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 397 (V397A)
Ref Sequence ENSEMBL: ENSMUSP00000026239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026239]
AlphaFold Q9QXE2
Predicted Effect probably damaging
Transcript: ENSMUST00000026239
AA Change: V397A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026239
Gene: ENSMUSG00000025218
AA Change: V397A

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 T C 4: 144,401,215 (GRCm39) T90A possibly damaging Het
Abi2 A G 1: 60,476,215 (GRCm39) T96A probably damaging Het
Adam34 T A 8: 44,104,094 (GRCm39) K517M probably benign Het
Atm A T 9: 53,426,617 (GRCm39) I547N probably benign Het
Cadm4 A T 7: 24,198,947 (GRCm39) D74V possibly damaging Het
Caprin1 G A 2: 103,599,210 (GRCm39) P46S probably damaging Het
Cbl A T 9: 44,112,358 (GRCm39) Y112* probably null Het
Ccdc180 T C 4: 45,900,256 (GRCm39) V246A probably benign Het
Chd1 A T 17: 15,975,259 (GRCm39) E1103V probably damaging Het
Clock G A 5: 76,384,933 (GRCm39) P428L probably benign Het
Cntn2 T A 1: 132,443,843 (GRCm39) I979F probably benign Het
Col2a1 A G 15: 97,875,707 (GRCm39) S1193P unknown Het
Fga A T 3: 82,937,507 (GRCm39) Y128F probably benign Het
Glyr1 A T 16: 4,838,152 (GRCm39) D365E probably benign Het
Gmppb G A 9: 107,928,446 (GRCm39) probably null Het
Gmps A T 3: 63,909,013 (GRCm39) H505L probably benign Het
Hexim2 A G 11: 103,029,464 (GRCm39) N172S probably benign Het
Hmgcr T C 13: 96,803,030 (GRCm39) E65G probably null Het
Hsd17b4 T C 18: 50,305,100 (GRCm39) S446P possibly damaging Het
Kirrel3 C T 9: 34,927,737 (GRCm39) T382I probably benign Het
Klra7 A T 6: 130,203,498 (GRCm39) Y169* probably null Het
Lmbrd1 T C 1: 24,745,055 (GRCm39) probably benign Het
Loxhd1 A G 18: 77,416,897 (GRCm39) E211G possibly damaging Het
Maf1 T A 15: 76,236,892 (GRCm39) F44I probably damaging Het
Mmd2 A G 5: 142,560,984 (GRCm39) S84P probably damaging Het
Morc2b T C 17: 33,357,139 (GRCm39) E211G probably benign Het
Mov10l1 T C 15: 88,909,040 (GRCm39) probably benign Het
Mycbp2 C A 14: 103,392,946 (GRCm39) C3205F possibly damaging Het
Myg1 G A 15: 102,242,773 (GRCm39) V155M probably benign Het
Ncam2 A G 16: 81,258,459 (GRCm39) N247S probably benign Het
Nek11 A G 9: 105,177,259 (GRCm39) probably null Het
Nt5dc3 T A 10: 86,656,139 (GRCm39) probably benign Het
Nudcd3 A G 11: 6,100,551 (GRCm39) Y134H probably damaging Het
Ogfod1 T C 8: 94,789,719 (GRCm39) probably null Het
Or5b99 A T 19: 12,977,125 (GRCm39) L258F possibly damaging Het
Orm2 T C 4: 63,281,215 (GRCm39) V51A probably benign Het
P2ry14 T C 3: 59,022,756 (GRCm39) I244V probably damaging Het
Ppdpf C A 2: 180,829,687 (GRCm39) probably benign Het
Ptch1 T C 13: 63,659,495 (GRCm39) E1249G probably benign Het
Rdh16f1 C A 10: 127,595,844 (GRCm39) T13K probably benign Het
Rrp1 G A 10: 78,240,905 (GRCm39) probably benign Het
Sec14l2 A G 11: 4,053,432 (GRCm39) M346T probably benign Het
Sh2d2a A T 3: 87,759,136 (GRCm39) Q246L probably benign Het
Slc44a1 G A 4: 53,491,448 (GRCm39) D62N probably damaging Het
Snx22 A G 9: 65,976,060 (GRCm39) Y58H probably damaging Het
Spata31f1a T C 4: 42,852,548 (GRCm39) probably null Het
Ttn T A 2: 76,599,779 (GRCm39) D19104V probably damaging Het
Ugt2a3 T C 5: 87,474,979 (GRCm39) S422G probably damaging Het
Zfyve19 G T 2: 119,041,094 (GRCm39) probably benign Het
Other mutations in Poll
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Poll APN 19 45,542,040 (GRCm39) missense probably damaging 0.99
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 2013-10-07