Incidental Mutation 'R3919:Pola1'
ID 306919
Institutional Source Beutler Lab
Gene Symbol Pola1
Ensembl Gene ENSMUSG00000006678
Gene Name polymerase (DNA directed), alpha 1
Synonyms Pola
MMRRC Submission 040817-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R3919 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 92348373-92675761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 92505078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1313 (R1313L)
Ref Sequence ENSEMBL: ENSMUSP00000006856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006856]
AlphaFold P33609
Predicted Effect probably benign
Transcript: ENSMUST00000006856
AA Change: R1313L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000006856
Gene: ENSMUSG00000006678
AA Change: R1313L

DomainStartEndE-ValueType
low complexity region 21 35 N/A INTRINSIC
Pfam:DNA_pol_alpha_N 41 102 5.5e-22 PFAM
Blast:POLBc 136 508 1e-152 BLAST
POLBc 539 1016 2.07e-134 SMART
low complexity region 1051 1058 N/A INTRINSIC
Blast:POLBc 1098 1187 4e-47 BLAST
Pfam:zf-DNA_Pol 1269 1458 4.5e-52 PFAM
Meta Mutation Damage Score 0.3485 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik G T 7: 43,879,852 (GRCm39) probably benign Het
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Abcb5 A G 12: 118,854,353 (GRCm39) M854T possibly damaging Het
Akap9 T A 5: 4,011,764 (GRCm39) Y822* probably null Het
Apoe T C 7: 19,430,472 (GRCm39) T257A probably benign Het
Atm C A 9: 53,403,578 (GRCm39) A1365S probably benign Het
Bmp2k T C 5: 97,222,599 (GRCm39) S674P unknown Het
Cd177 T C 7: 24,443,858 (GRCm39) S747G probably benign Het
Cdk5rap2 A G 4: 70,298,460 (GRCm39) F91L possibly damaging Het
Chil4 A T 3: 106,109,848 (GRCm39) N388K probably benign Het
Dnah3 G A 7: 119,550,303 (GRCm39) L3328F probably damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Ercc5 C A 1: 44,201,091 (GRCm39) T217K probably damaging Het
Esyt1 T A 10: 128,356,905 (GRCm39) probably benign Het
Ifih1 C A 2: 62,453,845 (GRCm39) probably benign Het
Ints12 A T 3: 132,806,444 (GRCm39) T124S probably benign Het
Kdm5d T C Y: 939,914 (GRCm39) L1022P probably damaging Het
Lama2 T A 10: 26,994,501 (GRCm39) N1803Y probably damaging Het
Lpcat2 C T 8: 93,640,902 (GRCm39) T449I probably damaging Het
Ly6c2 A T 15: 74,980,613 (GRCm39) probably null Het
Mast3 T C 8: 71,232,066 (GRCm39) K1304E probably benign Het
Mdm4 T C 1: 132,922,306 (GRCm39) K279E possibly damaging Het
Mest G A 6: 30,742,749 (GRCm39) S132N probably benign Het
Mras T A 9: 99,293,473 (GRCm39) I56F probably damaging Het
Mrgprb1 T C 7: 48,097,829 (GRCm39) K28E probably benign Het
Myrip G A 9: 120,261,695 (GRCm39) G436D probably damaging Het
Nr2e3 T A 9: 59,850,723 (GRCm39) T379S probably damaging Het
Or8k27 A G 2: 86,275,762 (GRCm39) V188A probably benign Het
Plscr3 T A 11: 69,738,236 (GRCm39) probably benign Het
Ppt2 T C 17: 34,841,897 (GRCm39) N213S probably damaging Het
Prelid2 T A 18: 42,070,740 (GRCm39) D31V possibly damaging Het
Psmb9 C T 17: 34,402,588 (GRCm39) probably null Het
Rec8 A G 14: 55,858,716 (GRCm39) T164A probably benign Het
Rnf103 G A 6: 71,487,331 (GRCm39) R654Q probably benign Het
Setdb2 T A 14: 59,656,616 (GRCm39) I250F probably damaging Het
Slurp1 A T 15: 74,598,659 (GRCm39) *111K probably null Het
Sphkap T G 1: 83,254,179 (GRCm39) E903A probably damaging Het
Sst T C 16: 23,708,591 (GRCm39) D80G possibly damaging Het
Stat4 C T 1: 52,135,981 (GRCm39) T430I possibly damaging Het
Tmprss4 C T 9: 45,091,964 (GRCm39) V174M probably benign Het
Trim6 A T 7: 103,882,057 (GRCm39) Y436F probably damaging Het
Ttc28 C A 5: 111,433,245 (GRCm39) A2093E possibly damaging Het
Vav3 A G 3: 109,434,854 (GRCm39) N462D possibly damaging Het
Whrn G T 4: 63,413,421 (GRCm39) S17* probably null Het
Zfhx4 T A 3: 5,464,175 (GRCm39) S1469R possibly damaging Het
Zfp108 T A 7: 23,960,257 (GRCm39) C283S probably damaging Het
Other mutations in Pola1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Pola1 APN X 92,604,991 (GRCm39) missense probably damaging 1.00
IGL00469:Pola1 APN X 92,638,391 (GRCm39) missense possibly damaging 0.62
IGL00946:Pola1 APN X 92,524,145 (GRCm39) missense probably benign 0.01
R0606:Pola1 UTSW X 92,531,693 (GRCm39) splice site probably benign
R1955:Pola1 UTSW X 92,640,867 (GRCm39) missense probably damaging 1.00
R3918:Pola1 UTSW X 92,505,078 (GRCm39) missense probably benign 0.01
R4402:Pola1 UTSW X 92,605,029 (GRCm39) missense probably damaging 0.99
Z1176:Pola1 UTSW X 92,524,210 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGAATTTCCTAAGTGTTCTCAACTGC -3'
(R):5'- AGATACCACGTACTTCTAATTAGGG -3'

Sequencing Primer
(F):5'- AAGTGTTCTCAACTGCAATAAAAAC -3'
(R):5'- CGTACTTCTAATTAGGGTCTTAAAGC -3'
Posted On 2015-04-17