Incidental Mutation 'R9016:Polq'
ID 686027
Institutional Source Beutler Lab
Gene Symbol Polq
Ensembl Gene ENSMUSG00000034206
Gene Name polymerase (DNA directed), theta
Synonyms A430110D14Rik
MMRRC Submission 068846-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.382) question?
Stock # R9016 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 37011786-37095417 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37022797 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 231 (L231Q)
Ref Sequence ENSEMBL: ENSMUSP00000059757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054034] [ENSMUST00000071452] [ENSMUST00000182946] [ENSMUST00000183112]
AlphaFold Q8CGS6
Predicted Effect probably damaging
Transcript: ENSMUST00000054034
AA Change: L231Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059757
Gene: ENSMUSG00000034206
AA Change: L231Q

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
low complexity region 38 55 N/A INTRINSIC
DEXDc 87 298 4.09e-18 SMART
HELICc 398 484 4.02e-17 SMART
Blast:DEXDc 485 550 2e-25 BLAST
low complexity region 609 626 N/A INTRINSIC
PDB:2ZJA|A 712 826 5e-9 PDB
low complexity region 845 852 N/A INTRINSIC
low complexity region 898 911 N/A INTRINSIC
low complexity region 1126 1149 N/A INTRINSIC
low complexity region 1813 1822 N/A INTRINSIC
POLAc 2265 2504 3.3e-101 SMART
low complexity region 2521 2531 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071452
SMART Domains Protein: ENSMUSP00000071396
Gene: ENSMUSG00000034206

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
low complexity region 38 55 N/A INTRINSIC
Pfam:DEAD 92 216 5.9e-12 PFAM
low complexity region 330 347 N/A INTRINSIC
PDB:2ZJA|A 433 547 5e-9 PDB
low complexity region 566 573 N/A INTRINSIC
low complexity region 619 632 N/A INTRINSIC
low complexity region 847 870 N/A INTRINSIC
low complexity region 1534 1543 N/A INTRINSIC
POLAc 1986 2225 3.3e-101 SMART
low complexity region 2242 2252 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182946
SMART Domains Protein: ENSMUSP00000138685
Gene: ENSMUSG00000034206

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
low complexity region 38 55 N/A INTRINSIC
Pfam:DEAD 92 164 1.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183112
SMART Domains Protein: ENSMUSP00000138648
Gene: ENSMUSG00000034206

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
low complexity region 38 55 N/A INTRINSIC
Pfam:DEAD 92 164 1.3e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
MGI Phenotype PHENOTYPE: Animals carrying a homozygous mutation at this locus display elevated levels of chromosomal damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 C A 18: 74,799,083 (GRCm38) S264R probably damaging Het
Agap1 T C 1: 89,766,466 (GRCm38) probably null Het
Amer2 G C 14: 60,379,927 (GRCm38) D524H probably damaging Het
Ank1 G A 8: 23,116,248 (GRCm38) G1219S probably null Het
Apob C T 12: 7,985,408 (GRCm38) silent Het
Atg2a G C 19: 6,250,081 (GRCm38) A640P probably damaging Het
AW209491 G A 13: 14,637,608 (GRCm38) V349M probably damaging Het
Bmpr2 C T 1: 59,815,301 (GRCm38) T103I probably damaging Het
Btaf1 A C 19: 36,994,305 (GRCm38) E1231D probably benign Het
Btbd7 T C 12: 102,785,158 (GRCm38) R1116G probably damaging Het
Catsperg1 A T 7: 29,191,737 (GRCm38) M627K probably benign Het
Ccdc114 T G 7: 45,936,564 (GRCm38) C128W probably damaging Het
Cdk7 G A 13: 100,717,618 (GRCm38) T121I probably benign Het
Csmd3 T A 15: 47,659,042 (GRCm38) T1833S Het
Dapk3 A T 10: 81,192,432 (GRCm38) R279W probably damaging Het
Dnah9 T C 11: 66,108,030 (GRCm38) E1064G probably damaging Het
Dner T C 1: 84,695,505 (GRCm38) E75G probably benign Het
Dnmt1 T C 9: 20,936,559 (GRCm38) E229G possibly damaging Het
Fam171a1 G A 2: 3,226,397 (GRCm38) A856T probably benign Het
Fam186b G A 15: 99,279,735 (GRCm38) A570V probably damaging Het
Fen1 A T 19: 10,200,942 (GRCm38) V46D probably damaging Het
Ffar3 T C 7: 30,855,029 (GRCm38) R289G probably damaging Het
Fhod3 G A 18: 25,110,079 (GRCm38) E1165K possibly damaging Het
Fras1 A T 5: 96,636,064 (GRCm38) H809L probably damaging Het
Gbp7 A T 3: 142,544,109 (GRCm38) E447V probably benign Het
Gja8 T C 3: 96,920,205 (GRCm38) D47G probably damaging Het
Gm13089 T C 4: 143,697,329 (GRCm38) I297V possibly damaging Het
Gm5795 A G 14: 3,191,110 (GRCm38) K144E probably benign Het
Gm7298 A C 6: 121,781,841 (GRCm38) Q1139H possibly damaging Het
Gpa33 A T 1: 166,165,161 (GRCm38) Y281F probably damaging Het
H2-M10.5 G A 17: 36,773,334 (GRCm38) E63K possibly damaging Het
Hgf T C 5: 16,618,958 (GRCm38) W718R probably damaging Het
Ifna5 C G 4: 88,835,809 (GRCm38) D95E probably benign Het
Ifnar2 T C 16: 91,404,185 (GRCm38) L438P possibly damaging Het
Ints1 T C 5: 139,758,571 (GRCm38) T1479A probably benign Het
Kif1a C T 1: 93,025,673 (GRCm38) R1263H probably damaging Het
Ltbp2 T C 12: 84,809,693 (GRCm38) T686A probably benign Het
Med12l A T 3: 59,255,873 (GRCm38) E1307V probably damaging Het
Mtcl1 T A 17: 66,344,067 (GRCm38) T1468S probably damaging Het
Myo9a C T 9: 59,868,144 (GRCm38) Q1013* probably null Het
Nckap5 T C 1: 126,695,754 (GRCm38) M1V probably null Het
Nos3 G T 5: 24,383,641 (GRCm38) V1122F probably damaging Het
Nxt2 C T X: 142,237,751 (GRCm38) A118V possibly damaging Het
Olfr1375 G A 11: 51,048,111 (GRCm38) M1I probably null Het
Olfr658 A T 7: 104,644,621 (GRCm38) C250* probably null Het
Oscar A G 7: 3,616,073 (GRCm38) V2A probably benign Het
P2rx6 T A 16: 17,567,440 (GRCm38) H132Q possibly damaging Het
Pakap T C 4: 57,637,857 (GRCm38) C12R unknown Het
Pde6b T A 5: 108,388,726 (GRCm38) M96K possibly damaging Het
Prrc2a G A 17: 35,159,868 (GRCm38) T399I unknown Het
Rapsn A G 2: 91,036,827 (GRCm38) D158G probably damaging Het
Rcor1 T A 12: 111,081,499 (GRCm38) probably benign Het
Sema4d G T 13: 51,713,758 (GRCm38) P186T probably damaging Het
Skiv2l A C 17: 34,844,664 (GRCm38) L601R probably damaging Het
Slc4a7 G A 14: 14,773,241 (GRCm38) R737Q probably damaging Het
Sorbs2 T G 8: 45,795,737 (GRCm38) V675G probably benign Het
Sox15 T G 11: 69,655,703 (GRCm38) Y111D probably damaging Het
Spen C T 4: 141,473,627 (GRCm38) C2563Y probably damaging Het
St5 A C 7: 109,540,435 (GRCm38) D645E possibly damaging Het
Taf8 A T 17: 47,496,602 (GRCm38) D153E probably damaging Het
Tet3 G A 6: 83,368,271 (GRCm38) A1728V probably damaging Het
Tmem232 A T 17: 65,430,783 (GRCm38) D427E probably benign Het
Tmem53 T C 4: 117,268,254 (GRCm38) I188T probably benign Het
Tnc T G 4: 64,017,094 (GRCm38) D535A probably benign Het
Tnfrsf11a G A 1: 105,827,129 (GRCm38) A309T possibly damaging Het
Tnik G A 3: 28,638,395 (GRCm38) G867R probably damaging Het
Uba3 A T 6: 97,185,733 (GRCm38) C367* probably null Het
Vmn1r235 G T 17: 21,261,707 (GRCm38) S98I possibly damaging Het
Vmn2r15 T C 5: 109,294,243 (GRCm38) E108G probably benign Het
Xrra1 T A 7: 99,876,255 (GRCm38) I127N probably benign Het
Zc3h18 G A 8: 122,403,224 (GRCm38) R447Q unknown Het
Zcwpw1 C A 5: 137,800,078 (GRCm38) P179Q probably damaging Het
Zfp526 C T 7: 25,225,839 (GRCm38) H508Y probably damaging Het
Zfp583 T C 7: 6,317,405 (GRCm38) K203E probably benign Het
Zfp979 A G 4: 147,613,047 (GRCm38) C402R possibly damaging Het
Zxdc A G 6: 90,382,272 (GRCm38) T629A probably damaging Het
Other mutations in Polq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Polq APN 16 37,065,247 (GRCm38) splice site probably benign
IGL00539:Polq APN 16 37,060,569 (GRCm38) missense probably damaging 0.98
IGL00960:Polq APN 16 37,060,512 (GRCm38) missense probably damaging 0.96
IGL01100:Polq APN 16 37,061,112 (GRCm38) missense probably benign
IGL01112:Polq APN 16 37,017,309 (GRCm38) missense probably damaging 1.00
IGL01138:Polq APN 16 37,045,869 (GRCm38) missense possibly damaging 0.94
IGL01432:Polq APN 16 37,071,822 (GRCm38) splice site probably benign
IGL01522:Polq APN 16 37,027,903 (GRCm38) missense probably damaging 1.00
IGL01565:Polq APN 16 37,013,113 (GRCm38) missense probably benign 0.00
IGL01592:Polq APN 16 37,034,850 (GRCm38) missense probably benign 0.01
IGL01690:Polq APN 16 37,062,838 (GRCm38) missense probably damaging 0.97
IGL01943:Polq APN 16 37,061,443 (GRCm38) missense possibly damaging 0.47
IGL02531:Polq APN 16 37,062,374 (GRCm38) missense possibly damaging 0.75
IGL02553:Polq APN 16 37,041,768 (GRCm38) missense probably damaging 1.00
IGL02623:Polq APN 16 37,060,375 (GRCm38) missense probably benign 0.04
IGL02692:Polq APN 16 37,060,627 (GRCm38) missense probably damaging 1.00
IGL02717:Polq APN 16 37,022,740 (GRCm38) missense probably damaging 1.00
IGL02937:Polq APN 16 37,013,109 (GRCm38) missense probably benign 0.14
IGL02959:Polq APN 16 37,086,566 (GRCm38) missense probably damaging 1.00
IGL03086:Polq APN 16 37,091,049 (GRCm38) missense probably benign 0.02
IGL03141:Polq APN 16 37,017,358 (GRCm38) splice site probably benign
IGL03302:Polq APN 16 37,071,772 (GRCm38) missense probably damaging 1.00
IGL03393:Polq APN 16 37,044,794 (GRCm38) missense probably damaging 1.00
R0013_Polq_667 UTSW 16 37,061,839 (GRCm38) missense possibly damaging 0.56
R4238_Polq_233 UTSW 16 37,013,181 (GRCm38) missense probably damaging 1.00
R4280_polq_867 UTSW 16 37,082,057 (GRCm38) missense probably damaging 1.00
G1Funyon:Polq UTSW 16 37,061,819 (GRCm38) missense probably damaging 1.00
PIT4403001:Polq UTSW 16 37,060,587 (GRCm38) missense probably benign 0.00
R0013:Polq UTSW 16 37,061,839 (GRCm38) missense possibly damaging 0.56
R0082:Polq UTSW 16 37,017,257 (GRCm38) missense probably benign 0.01
R0212:Polq UTSW 16 37,066,854 (GRCm38) missense probably damaging 0.99
R0387:Polq UTSW 16 37,089,317 (GRCm38) missense probably damaging 1.00
R0387:Polq UTSW 16 37,029,430 (GRCm38) missense probably damaging 1.00
R0427:Polq UTSW 16 37,061,993 (GRCm38) nonsense probably null
R0454:Polq UTSW 16 37,034,890 (GRCm38) missense probably damaging 0.98
R0513:Polq UTSW 16 37,094,502 (GRCm38) missense probably damaging 1.00
R0622:Polq UTSW 16 37,060,993 (GRCm38) missense probably benign 0.02
R0848:Polq UTSW 16 37,062,130 (GRCm38) missense probably benign 0.08
R1142:Polq UTSW 16 37,013,217 (GRCm38) missense probably damaging 0.98
R1218:Polq UTSW 16 37,029,446 (GRCm38) missense possibly damaging 0.93
R1331:Polq UTSW 16 37,041,747 (GRCm38) missense probably damaging 1.00
R1398:Polq UTSW 16 37,062,495 (GRCm38) missense possibly damaging 0.87
R1424:Polq UTSW 16 37,086,528 (GRCm38) missense probably damaging 1.00
R1644:Polq UTSW 16 37,060,264 (GRCm38) missense probably damaging 0.96
R1777:Polq UTSW 16 37,060,224 (GRCm38) missense possibly damaging 0.94
R1820:Polq UTSW 16 37,029,418 (GRCm38) missense possibly damaging 0.48
R1854:Polq UTSW 16 37,062,109 (GRCm38) missense probably benign 0.01
R1880:Polq UTSW 16 37,086,592 (GRCm38) missense possibly damaging 0.90
R1932:Polq UTSW 16 37,062,304 (GRCm38) missense possibly damaging 0.92
R2008:Polq UTSW 16 37,062,482 (GRCm38) missense probably damaging 0.96
R2014:Polq UTSW 16 37,078,366 (GRCm38) missense probably damaging 1.00
R2026:Polq UTSW 16 37,062,745 (GRCm38) missense possibly damaging 0.93
R2178:Polq UTSW 16 37,062,829 (GRCm38) missense probably damaging 1.00
R2259:Polq UTSW 16 37,062,097 (GRCm38) missense probably benign 0.03
R2266:Polq UTSW 16 37,062,153 (GRCm38) missense possibly damaging 0.59
R2305:Polq UTSW 16 37,062,337 (GRCm38) missense probably damaging 0.99
R2370:Polq UTSW 16 37,073,939 (GRCm38) missense probably damaging 1.00
R2504:Polq UTSW 16 37,011,942 (GRCm38) missense unknown
R2517:Polq UTSW 16 37,089,325 (GRCm38) missense probably damaging 1.00
R2697:Polq UTSW 16 37,042,153 (GRCm38) missense probably damaging 1.00
R2858:Polq UTSW 16 37,062,753 (GRCm38) missense possibly damaging 0.88
R3436:Polq UTSW 16 37,062,337 (GRCm38) missense probably damaging 0.99
R3437:Polq UTSW 16 37,062,337 (GRCm38) missense probably damaging 0.99
R3699:Polq UTSW 16 37,042,156 (GRCm38) missense probably damaging 1.00
R3838:Polq UTSW 16 37,078,349 (GRCm38) missense probably damaging 1.00
R3875:Polq UTSW 16 37,074,027 (GRCm38) missense probably damaging 0.99
R4050:Polq UTSW 16 37,092,820 (GRCm38) critical splice acceptor site probably null
R4172:Polq UTSW 16 37,060,758 (GRCm38) missense probably benign 0.02
R4238:Polq UTSW 16 37,013,181 (GRCm38) missense probably damaging 1.00
R4240:Polq UTSW 16 37,013,181 (GRCm38) missense probably damaging 1.00
R4280:Polq UTSW 16 37,082,057 (GRCm38) missense probably damaging 1.00
R4296:Polq UTSW 16 37,061,301 (GRCm38) missense possibly damaging 0.94
R4360:Polq UTSW 16 37,060,339 (GRCm38) missense probably benign 0.00
R4373:Polq UTSW 16 37,013,181 (GRCm38) missense probably damaging 1.00
R4375:Polq UTSW 16 37,013,181 (GRCm38) missense probably damaging 1.00
R4376:Polq UTSW 16 37,013,181 (GRCm38) missense probably damaging 1.00
R4509:Polq UTSW 16 37,048,563 (GRCm38) missense probably damaging 1.00
R4510:Polq UTSW 16 37,048,563 (GRCm38) missense probably damaging 1.00
R4511:Polq UTSW 16 37,048,563 (GRCm38) missense probably damaging 1.00
R4543:Polq UTSW 16 37,060,785 (GRCm38) missense probably benign 0.43
R4633:Polq UTSW 16 37,048,542 (GRCm38) missense probably damaging 1.00
R4739:Polq UTSW 16 37,041,747 (GRCm38) missense probably damaging 1.00
R4834:Polq UTSW 16 37,027,814 (GRCm38) missense probably damaging 1.00
R4841:Polq UTSW 16 37,048,783 (GRCm38) critical splice donor site probably null
R4842:Polq UTSW 16 37,048,783 (GRCm38) critical splice donor site probably null
R4937:Polq UTSW 16 37,027,912 (GRCm38) missense probably benign 0.01
R4955:Polq UTSW 16 37,061,082 (GRCm38) missense probably benign 0.32
R4992:Polq UTSW 16 37,061,162 (GRCm38) missense possibly damaging 0.59
R5008:Polq UTSW 16 37,062,387 (GRCm38) missense probably benign
R5221:Polq UTSW 16 37,042,178 (GRCm38) missense probably damaging 0.98
R5254:Polq UTSW 16 37,089,319 (GRCm38) missense probably damaging 1.00
R5292:Polq UTSW 16 37,061,383 (GRCm38) missense probably damaging 1.00
R5375:Polq UTSW 16 37,082,784 (GRCm38) missense probably damaging 1.00
R5480:Polq UTSW 16 37,013,290 (GRCm38) splice site probably benign
R5552:Polq UTSW 16 37,094,510 (GRCm38) missense possibly damaging 0.93
R5591:Polq UTSW 16 37,011,885 (GRCm38) utr 5 prime probably benign
R5653:Polq UTSW 16 37,040,534 (GRCm38) missense probably damaging 1.00
R5708:Polq UTSW 16 37,061,018 (GRCm38) missense probably damaging 0.98
R5754:Polq UTSW 16 37,017,263 (GRCm38) missense probably benign
R5757:Polq UTSW 16 37,086,681 (GRCm38) missense probably benign 0.01
R5764:Polq UTSW 16 37,017,344 (GRCm38) missense probably damaging 0.97
R6019:Polq UTSW 16 37,061,764 (GRCm38) missense probably damaging 1.00
R6170:Polq UTSW 16 37,045,812 (GRCm38) missense possibly damaging 0.82
R6177:Polq UTSW 16 37,071,709 (GRCm38) missense probably damaging 0.98
R6307:Polq UTSW 16 37,017,356 (GRCm38) critical splice donor site probably null
R6499:Polq UTSW 16 37,060,827 (GRCm38) missense probably benign 0.03
R6520:Polq UTSW 16 37,060,377 (GRCm38) missense possibly damaging 0.88
R6598:Polq UTSW 16 37,061,631 (GRCm38) missense probably benign 0.39
R6694:Polq UTSW 16 37,015,173 (GRCm38) missense probably null 0.99
R6788:Polq UTSW 16 37,077,148 (GRCm38) missense probably damaging 1.00
R7104:Polq UTSW 16 37,089,353 (GRCm38) nonsense probably null
R7159:Polq UTSW 16 37,062,853 (GRCm38) missense possibly damaging 0.87
R7222:Polq UTSW 16 37,086,633 (GRCm38) nonsense probably null
R7340:Polq UTSW 16 37,060,926 (GRCm38) missense probably benign 0.00
R7361:Polq UTSW 16 37,060,428 (GRCm38) missense probably benign 0.00
R7384:Polq UTSW 16 37,029,418 (GRCm38) missense probably damaging 1.00
R7509:Polq UTSW 16 37,060,344 (GRCm38) missense probably benign 0.00
R7509:Polq UTSW 16 37,060,343 (GRCm38) missense probably benign
R7575:Polq UTSW 16 37,091,134 (GRCm38) missense probably benign 0.00
R7785:Polq UTSW 16 37,027,877 (GRCm38) missense probably damaging 1.00
R7787:Polq UTSW 16 37,017,309 (GRCm38) missense probably damaging 1.00
R7891:Polq UTSW 16 37,027,882 (GRCm38) missense probably damaging 1.00
R7898:Polq UTSW 16 37,044,883 (GRCm38) missense probably damaging 0.98
R7917:Polq UTSW 16 37,065,288 (GRCm38) missense probably benign 0.08
R7940:Polq UTSW 16 37,060,642 (GRCm38) missense probably benign 0.27
R8028:Polq UTSW 16 37,061,316 (GRCm38) missense possibly damaging 0.82
R8114:Polq UTSW 16 37,042,215 (GRCm38) missense possibly damaging 0.94
R8144:Polq UTSW 16 37,029,484 (GRCm38) missense probably benign 0.01
R8288:Polq UTSW 16 37,027,910 (GRCm38) missense probably damaging 1.00
R8301:Polq UTSW 16 37,061,819 (GRCm38) missense probably damaging 1.00
R8341:Polq UTSW 16 37,071,771 (GRCm38) missense possibly damaging 0.96
R8348:Polq UTSW 16 37,017,197 (GRCm38) critical splice acceptor site probably null
R8448:Polq UTSW 16 37,017,197 (GRCm38) critical splice acceptor site probably null
R8815:Polq UTSW 16 37,033,531 (GRCm38) missense probably damaging 1.00
R8843:Polq UTSW 16 37,011,918 (GRCm38) missense unknown
R8878:Polq UTSW 16 37,040,507 (GRCm38) missense probably benign 0.02
R9189:Polq UTSW 16 37,044,903 (GRCm38) missense probably damaging 1.00
R9209:Polq UTSW 16 37,048,649 (GRCm38) missense possibly damaging 0.94
R9352:Polq UTSW 16 37,041,890 (GRCm38) missense probably damaging 0.98
R9398:Polq UTSW 16 37,061,032 (GRCm38) missense probably benign 0.02
R9403:Polq UTSW 16 37,061,853 (GRCm38) missense probably benign 0.00
R9489:Polq UTSW 16 37,022,811 (GRCm38) missense probably benign 0.00
R9605:Polq UTSW 16 37,022,811 (GRCm38) missense probably benign 0.00
R9664:Polq UTSW 16 37,027,814 (GRCm38) missense probably damaging 0.98
R9801:Polq UTSW 16 37,092,828 (GRCm38) missense probably damaging 1.00
X0060:Polq UTSW 16 37,017,237 (GRCm38) nonsense probably null
Z1176:Polq UTSW 16 37,042,257 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCCTTTATGGTGGAACTTTGCATC -3'
(R):5'- ACGCATTAAAATTGAGCAGCAG -3'

Sequencing Primer
(F):5'- GTGGAACTTTGCATCACCTG -3'
(R):5'- ATGTTGTGGTGAACCCCAAC -3'
Posted On 2021-10-11