Incidental Mutation 'R1955:Pola1'
ID 217742
Institutional Source Beutler Lab
Gene Symbol Pola1
Ensembl Gene ENSMUSG00000006678
Gene Name polymerase (DNA directed), alpha 1
Synonyms Pola
MMRRC Submission 039969-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1955 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 92348373-92675761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 92640867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 384 (V384G)
Ref Sequence ENSEMBL: ENSMUSP00000006856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006856]
AlphaFold P33609
Predicted Effect probably damaging
Transcript: ENSMUST00000006856
AA Change: V384G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006856
Gene: ENSMUSG00000006678
AA Change: V384G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T A 1: 53,202,400 (GRCm39) K128N probably benign Het
Acadm A C 3: 153,635,188 (GRCm39) F309V probably damaging Het
Adam6b C A 12: 113,455,436 (GRCm39) A751E probably benign Het
Adcy9 A G 16: 4,236,523 (GRCm39) I296T possibly damaging Het
Arhgap45 A G 10: 79,862,326 (GRCm39) E471G probably benign Het
Atcay T C 10: 81,050,627 (GRCm39) D96G possibly damaging Het
B3galt4 T A 17: 34,169,606 (GRCm39) R211* probably null Het
Bpi T C 2: 158,116,635 (GRCm39) I344T probably damaging Het
Btnl4 T C 17: 34,691,904 (GRCm39) K233E possibly damaging Het
Cars2 A T 8: 11,600,286 (GRCm39) Y68N probably damaging Het
Cd207 T A 6: 83,648,757 (GRCm39) R302W probably benign Het
Cdc5l T C 17: 45,737,442 (GRCm39) probably null Het
Chaf1a C T 17: 56,354,540 (GRCm39) T270I unknown Het
Col4a1 C T 8: 11,258,228 (GRCm39) probably null Het
Col7a1 G T 9: 108,784,732 (GRCm39) V187L unknown Het
Cry1 G A 10: 84,980,042 (GRCm39) T422I probably benign Het
Csgalnact1 C T 8: 68,825,319 (GRCm39) V392I probably benign Het
Cyp2c38 A G 19: 39,393,131 (GRCm39) L312P probably damaging Het
Ddx20 G A 3: 105,586,878 (GRCm39) T489M possibly damaging Het
Decr1 A T 4: 15,924,256 (GRCm39) N221K probably benign Het
Dennd4a A T 9: 64,759,749 (GRCm39) T285S probably benign Het
Dgka A G 10: 128,566,058 (GRCm39) probably null Het
Dmd A T X: 82,922,163 (GRCm39) M1478L probably benign Het
Dvl1 G A 4: 155,942,486 (GRCm39) R584Q possibly damaging Het
Dync1li1 A T 9: 114,550,814 (GRCm39) S450C probably damaging Het
Ehbp1l1 A G 19: 5,760,697 (GRCm39) V1558A possibly damaging Het
Esr1 T A 10: 4,807,125 (GRCm39) M347K probably damaging Het
F2 T A 2: 91,463,440 (GRCm39) H148L probably benign Het
Fezf2 T C 14: 12,342,644 (GRCm38) N407S probably benign Het
Fscn3 T A 6: 28,430,235 (GRCm39) M135K possibly damaging Het
Ganab T G 19: 8,888,980 (GRCm39) Y560* probably null Het
Garem2 T C 5: 30,313,268 (GRCm39) V44A probably benign Het
Gja4 A G 4: 127,206,242 (GRCm39) W174R probably damaging Het
Gja5 A T 3: 96,958,957 (GRCm39) H338L probably benign Het
Gm43517 A G 12: 49,436,672 (GRCm39) probably benign Het
Iqch A T 9: 63,455,298 (GRCm39) D166E probably benign Het
Kifc5b T A 17: 27,145,271 (GRCm39) probably null Het
Kmt2b A T 7: 30,274,776 (GRCm39) M1976K possibly damaging Het
Leng1 A T 7: 3,668,415 (GRCm39) V11D probably damaging Het
Lrit3 A G 3: 129,594,130 (GRCm39) V149A probably benign Het
Lrpap1 A G 5: 35,259,756 (GRCm39) L114P probably damaging Het
Marveld3 T A 8: 110,686,380 (GRCm39) D162V probably benign Het
Mon2 A T 10: 122,874,388 (GRCm39) I320N probably damaging Het
Morc2b T C 17: 33,356,464 (GRCm39) Y436C probably damaging Het
Myo7a A T 7: 97,704,128 (GRCm39) V1928D probably damaging Het
Ncoa6 A G 2: 155,248,741 (GRCm39) V1521A possibly damaging Het
Nexmif A G X: 103,127,559 (GRCm39) S1453P possibly damaging Het
Nudt16l1 A G 16: 4,758,189 (GRCm39) M182V probably benign Het
Obp2b A T 2: 25,628,563 (GRCm39) I106L probably benign Het
Or10ag59 T A 2: 87,406,349 (GRCm39) L307Q probably damaging Het
Or4a2 T A 2: 89,248,755 (GRCm39) M1L probably damaging Het
Or5h18 T A 16: 58,847,774 (GRCm39) R165S probably damaging Het
Or8b43 T C 9: 38,360,984 (GRCm39) I272T probably benign Het
Parl T A 16: 20,121,077 (GRCm39) M1L possibly damaging Het
Pde7a G A 3: 19,281,963 (GRCm39) A429V probably damaging Het
Pkd1l2 T A 8: 117,770,100 (GRCm39) M1119L probably benign Het
Plch1 C T 3: 63,662,688 (GRCm39) V272I probably damaging Het
Plekha4 G A 7: 45,203,330 (GRCm39) G740D probably damaging Het
Pnliprp1 A G 19: 58,723,404 (GRCm39) D265G possibly damaging Het
Pon3 T A 6: 5,230,774 (GRCm39) D251V probably benign Het
Pot1b A G 17: 55,981,067 (GRCm39) C316R possibly damaging Het
Prkaca T A 8: 84,714,946 (GRCm39) V116E probably damaging Het
Prpf6 T G 2: 181,273,870 (GRCm39) M338R probably benign Het
Rasgef1c A G 11: 49,866,542 (GRCm39) H382R possibly damaging Het
Rlig1 A G 10: 100,413,166 (GRCm39) V91A probably damaging Het
Rps25 C T 9: 44,321,305 (GRCm39) T113I probably benign Het
Serpinb1b G T 13: 33,269,422 (GRCm39) A52S probably benign Het
Sh3yl1 A G 12: 30,972,332 (GRCm39) K34E possibly damaging Het
Siah2 C T 3: 58,583,518 (GRCm39) R256Q probably damaging Het
Slc24a2 A G 4: 86,991,481 (GRCm39) L404P probably damaging Het
Slc28a2 G A 2: 122,278,347 (GRCm39) C122Y probably benign Het
Slc4a8 T C 15: 100,705,257 (GRCm39) I821T probably damaging Het
Slc5a3 T C 16: 91,874,762 (GRCm39) V273A possibly damaging Het
Spag7 T C 11: 70,555,844 (GRCm39) Q61R probably benign Het
Syt7 A T 19: 10,395,402 (GRCm39) I71F probably damaging Het
Tars2 T C 3: 95,654,766 (GRCm39) N413S probably damaging Het
Tex14 T A 11: 87,400,447 (GRCm39) L413Q probably damaging Het
Tjp3 T C 10: 81,113,833 (GRCm39) E475G probably damaging Het
Tmem131l A G 3: 83,868,851 (GRCm39) S175P probably damaging Het
Tmem144 C T 3: 79,734,164 (GRCm39) V180M probably benign Het
Tmem200c A T 17: 69,147,956 (GRCm39) I180F probably damaging Het
Tmem232 G T 17: 65,791,482 (GRCm39) H129N probably benign Het
Tmprss11g T A 5: 86,646,391 (GRCm39) I59F probably damaging Het
Tmprss2 T A 16: 97,368,377 (GRCm39) probably null Het
Tor1aip2 T A 1: 155,927,588 (GRCm39) probably benign Het
Trim61 T C 8: 65,466,044 (GRCm39) I406V possibly damaging Het
Trpv5 T C 6: 41,634,871 (GRCm39) D486G probably damaging Het
Try5 T C 6: 41,288,703 (GRCm39) E64G probably benign Het
Txlnb A G 10: 17,675,168 (GRCm39) E107G probably damaging Het
Ube2frt A G 12: 36,140,595 (GRCm39) probably benign Het
Uckl1 T C 2: 181,212,320 (GRCm39) Q332R probably benign Het
Ugt2b1 T C 5: 87,065,572 (GRCm39) Y489C probably damaging Het
Ugt2b5 T A 5: 87,275,631 (GRCm39) M407L probably benign Het
Vmn1r191 A T 13: 22,362,985 (GRCm39) S256R possibly damaging Het
Vps13b T G 15: 35,925,554 (GRCm39) probably null Het
Vps13d A G 4: 144,882,713 (GRCm39) F960S probably damaging Het
Xab2 T A 8: 3,666,094 (GRCm39) D227V probably damaging Het
Xaf1 A T 11: 72,197,432 (GRCm39) D136V possibly damaging Het
Zan A G 5: 137,387,545 (GRCm39) S4889P unknown Het
Zfp78 A G 7: 6,381,558 (GRCm39) T203A probably benign Het
Zfp821 T C 8: 110,447,874 (GRCm39) S72P 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
R3918:Pola1 UTSW X 92,505,078 (GRCm39) missense probably benign 0.01
R3919: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'- GCATTATGTGAATGGTCAGTAGATAG -3'
(R):5'- ACAGAACAATGAACTAGTCTTTGGG -3'

Sequencing Primer
(F):5'- CTACCCTGCAGAAAGGTA -3'
(R):5'- ACAATGAACTAGTCTTTGGGAGTGG -3'
Genotyping

NOTE: These primers have not been validated.

R1955:Pola1 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transition.
 

PCR Primers

R19550115_Pola1_PCR_F: 5’- GCATTATGTGAATGGTCAGTAGATAG-3’

R19550115_Pola1_PCR_F: 5’- ACAGAACAATGAACTAGTCTTTGGG-3’

Sequencing Primers

R19550115_Pola1_SEQ_F: 5’- CTACCCTGCAGAAAGGTA-3’
 

R19550115_Pola1_SEQ_R: 5’- ACAATGAACTAGTCTTTGGGAGTGG-3’
 

PCR program

1) 94°C             2:00

2) 94°C             0:30

3) 55°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 40X

6) 72°C             10:00

7) 4°C               hold

The following sequence of 425 nucleotides is amplified (Chr.X: 93597075-93597499, GRCm38; NCBI RefSeq: NC_000086):

gcattatgtg aatggtcagt agatagaact aaaacaatta gggactgtag agaaatccta       

ccctgcagaa aggtaggata gcagaacaca gaatgtgtat catacacaac tgctgagagt      

aaaaggtaat cactaacgtt taccatttca cggggaagga agtagagtgt tcgctcaata      

tttttcacca taacacaaca gctcacatgg gttttgactg attcaatcca cactttgcca       

aacagaaaaa ccacacctga aaaaaaaaga aaaacaggaa ataaaaagct ttcaagtagg      

tcaagttaaa gaggctatta caaaggccca atgaatgtgt tcacatgttt acacctttct      

gtaactaatt ttcacccaaa agctatacct gcttcccact cccaaagact agttcattgt      

tctgt

FASTA sequence

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated T is shown in red text (Chr. + strand, A>C; Sense strand, T>G).
Posted On 2014-08-01