Incidental Mutation 'IGL01807:Pola2'
ID 155720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pola2
Ensembl Gene ENSMUSG00000024833
Gene Name polymerase (DNA directed), alpha 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01807
Quality Score
Status
Chromosome 19
Chromosomal Location 5990570-6014230 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 6003187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025752] [ENSMUST00000165143]
AlphaFold P33611
Predicted Effect probably benign
Transcript: ENSMUST00000025752
SMART Domains Protein: ENSMUSP00000025752
Gene: ENSMUSG00000024833

DomainStartEndE-ValueType
Pfam:Pol_alpha_B_N 17 243 5.4e-17 PFAM
Pfam:DNA_pol_E_B 342 549 9.8e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165143
SMART Domains Protein: ENSMUSP00000128866
Gene: ENSMUSG00000024833

DomainStartEndE-ValueType
Pfam:Pol_alpha_B_N 15 248 3.1e-59 PFAM
Pfam:DNA_pol_E_B 342 549 2e-49 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,551,640 (GRCm39) L1223M probably damaging Het
Ano7 A G 1: 93,330,418 (GRCm39) E814G possibly damaging Het
Atf1 T C 15: 100,149,945 (GRCm39) probably benign Het
Bco2 T C 9: 50,457,158 (GRCm39) probably benign Het
Birc6 A G 17: 74,938,032 (GRCm39) I2625V probably benign Het
Bub1 A G 2: 127,654,897 (GRCm39) S545P probably benign Het
Cacna1i T A 15: 80,258,348 (GRCm39) I1173N probably damaging Het
Ccdc175 T C 12: 72,206,616 (GRCm39) E210G probably benign Het
Ccl2 G A 11: 81,926,513 (GRCm39) G9D possibly damaging Het
Chmp2b T A 16: 65,337,091 (GRCm39) T189S probably benign Het
Col4a1 A T 8: 11,297,056 (GRCm39) probably benign Het
Ecm1 A G 3: 95,643,891 (GRCm39) S236P probably damaging Het
Epha8 A G 4: 136,658,993 (GRCm39) V887A probably benign Het
Fam227a T C 15: 79,533,856 (GRCm39) M36V probably benign Het
Fbxo15 T A 18: 84,999,506 (GRCm39) probably benign Het
Mtmr4 A G 11: 87,494,976 (GRCm39) I423V possibly damaging Het
Ngly1 C T 14: 16,290,873 (GRCm38) L452F probably benign Het
Or52u1 T A 7: 104,237,091 (GRCm39) W27R probably damaging Het
Or5ac15 T C 16: 58,939,936 (GRCm39) T166A possibly damaging Het
Pak2 T C 16: 31,856,097 (GRCm39) K247E probably damaging Het
Ppp1r9a C T 6: 5,158,248 (GRCm39) Q1219* probably null Het
Rasgrf1 T C 9: 89,873,566 (GRCm39) I625T probably damaging Het
Rpap1 T C 2: 119,613,189 (GRCm39) T120A possibly damaging Het
Scin T C 12: 40,134,288 (GRCm39) Y252C probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smc1b T A 15: 84,980,946 (GRCm39) D774V probably damaging Het
Uba6 C T 5: 86,270,270 (GRCm39) R838Q probably damaging Het
Ulk4 A G 9: 121,084,251 (GRCm39) S105P probably damaging Het
Vwa3a G A 7: 120,374,729 (GRCm39) probably null Het
Xirp2 A G 2: 67,345,375 (GRCm39) T2539A probably benign Het
Zfpm2 T C 15: 40,616,452 (GRCm39) probably null Het
Other mutations in Pola2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Pola2 APN 19 6,009,121 (GRCm39) missense probably benign 0.19
IGL01704:Pola2 APN 19 5,992,047 (GRCm39) missense probably damaging 1.00
IGL02039:Pola2 APN 19 5,998,497 (GRCm39) missense probably damaging 1.00
IGL02639:Pola2 APN 19 6,003,802 (GRCm39) missense probably benign 0.01
PIT4403001:Pola2 UTSW 19 6,009,074 (GRCm39) missense possibly damaging 0.73
R0189:Pola2 UTSW 19 5,992,370 (GRCm39) splice site probably benign
R1467:Pola2 UTSW 19 5,992,093 (GRCm39) nonsense probably null
R1467:Pola2 UTSW 19 5,992,093 (GRCm39) nonsense probably null
R1521:Pola2 UTSW 19 5,998,434 (GRCm39) missense probably damaging 1.00
R1682:Pola2 UTSW 19 6,003,091 (GRCm39) critical splice donor site probably null
R1806:Pola2 UTSW 19 5,993,250 (GRCm39) critical splice donor site probably null
R1934:Pola2 UTSW 19 6,003,769 (GRCm39) missense probably damaging 1.00
R1938:Pola2 UTSW 19 6,001,208 (GRCm39) missense probably benign 0.01
R4833:Pola2 UTSW 19 6,003,892 (GRCm39) missense probably damaging 1.00
R5643:Pola2 UTSW 19 6,011,198 (GRCm39) missense probably benign 0.03
R5644:Pola2 UTSW 19 6,011,198 (GRCm39) missense probably benign 0.03
R6192:Pola2 UTSW 19 6,003,802 (GRCm39) missense possibly damaging 0.46
R7509:Pola2 UTSW 19 6,011,194 (GRCm39) missense probably benign 0.26
R8217:Pola2 UTSW 19 6,013,855 (GRCm39) missense possibly damaging 0.91
R8954:Pola2 UTSW 19 5,998,452 (GRCm39) missense probably damaging 0.98
R9225:Pola2 UTSW 19 6,000,492 (GRCm39) missense probably benign 0.04
R9336:Pola2 UTSW 19 5,991,029 (GRCm39) missense possibly damaging 0.92
R9783:Pola2 UTSW 19 5,990,904 (GRCm39) missense probably damaging 1.00
Z1177:Pola2 UTSW 19 6,003,856 (GRCm39) missense probably benign 0.01
Posted On 2014-02-04