Incidental Mutation 'R8878:Polq'
ID 676727
Institutional Source Beutler Lab
Gene Symbol Polq
Ensembl Gene ENSMUSG00000034206
Gene Name polymerase (DNA directed), theta
Synonyms A430110D14Rik
MMRRC Submission 068746-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.382) question?
Stock # R8878 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 37011786-37095417 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37040507 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 497 (N497S)
Ref Sequence ENSEMBL: ENSMUSP00000059757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054034] [ENSMUST00000071452] [ENSMUST00000182946] [ENSMUST00000183112]
AlphaFold Q8CGS6
Predicted Effect probably benign
Transcript: ENSMUST00000054034
AA Change: N497S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000059757
Gene: ENSMUSG00000034206
AA Change: N497S

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
AA Change: N218S

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000071396
Gene: ENSMUSG00000034206
AA Change: N218S

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: 98.9%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 C A 2: 155,556,404 (GRCm38) H348Q probably benign Het
Ago1 T A 4: 126,463,723 (GRCm38) Y53F probably benign Het
Arrdc5 A G 17: 56,294,342 (GRCm38) L261P probably benign Het
Asb2 C A 12: 103,323,879 (GRCm38) W551L possibly damaging Het
Atl2 T C 17: 79,852,803 (GRCm38) I452V probably benign Het
Atxn7l3 T C 11: 102,292,719 (GRCm38) S203G probably benign Het
Bche A G 3: 73,701,173 (GRCm38) F307L probably benign Het
C6 T C 15: 4,796,972 (GRCm38) V679A probably benign Het
Cd163 A T 6: 124,320,510 (GRCm38) N872Y probably damaging Het
Cdkal1 C A 13: 29,474,624 (GRCm38) V380F probably damaging Het
Ceacam11 A T 7: 17,975,611 (GRCm38) I245L probably benign Het
Ceacam16 G T 7: 19,858,731 (GRCm38) T84K possibly damaging Het
Ceacam2 T A 7: 25,527,926 (GRCm38) Q172L probably benign Het
Chga T G 12: 102,561,461 (GRCm38) S125A possibly damaging Het
Col9a1 T C 1: 24,196,967 (GRCm38) probably null Het
Crybg3 C A 16: 59,560,184 (GRCm38) A236S probably benign Het
Csmd1 A G 8: 15,910,528 (GRCm38) Y3296H probably damaging Het
Cyp2j8 C A 4: 96,470,570 (GRCm38) V371L possibly damaging Het
Des C A 1: 75,360,493 (GRCm38) L26M unknown Het
Edc3 A G 9: 57,716,201 (GRCm38) S140G possibly damaging Het
Fam161a C T 11: 23,020,092 (GRCm38) T90I probably benign Het
Fancm T C 12: 65,126,748 (GRCm38) Y1945H probably damaging Het
Fbn2 C T 18: 58,124,246 (GRCm38) V350I probably benign Het
Git2 A G 5: 114,761,588 (GRCm38) C235R possibly damaging Het
Gk2 T C 5: 97,456,482 (GRCm38) K166E probably benign Het
Gm12258 G A 11: 58,859,286 (GRCm38) R429H unknown Het
Gm7247 T G 14: 51,428,753 (GRCm38) probably benign Het
Gmppa A G 1: 75,438,288 (GRCm38) Y59C probably damaging Het
Has1 G T 17: 17,850,059 (GRCm38) A200E possibly damaging Het
Hbs1l T C 10: 21,358,812 (GRCm38) I588T possibly damaging Het
Helz2 A G 2: 181,232,767 (GRCm38) V1978A possibly damaging Het
Hoxb9 T C 11: 96,274,731 (GRCm38) Y209H probably damaging Het
Hps5 T C 7: 46,771,921 (GRCm38) D706G probably benign Het
Hydin T C 8: 110,309,088 (GRCm38) V137A probably benign Het
Ifngr2 T C 16: 91,562,959 (GRCm38) I318T probably benign Het
Iqgap3 C T 3: 88,113,225 (GRCm38) T1290I probably damaging Het
Jrk A T 15: 74,707,139 (GRCm38) V99E probably benign Het
Kalrn G A 16: 34,205,326 (GRCm38) T931M probably damaging Het
Kalrn G A 16: 34,198,460 (GRCm38) P1311S probably benign Het
Kirrel3 A G 9: 34,939,265 (GRCm38) probably benign Het
Klk9 T C 7: 43,794,358 (GRCm38) F99L possibly damaging Het
Lamb3 T C 1: 193,330,816 (GRCm38) C450R probably damaging Het
Lyst T A 13: 13,641,076 (GRCm38) S1182T probably benign Het
Map1a T C 2: 121,307,644 (GRCm38) V2933A probably damaging Het
Map2k5 A T 9: 63,343,385 (GRCm38) probably null Het
Mcm6 A G 1: 128,355,511 (GRCm38) probably null Het
Mmp17 G A 5: 129,606,314 (GRCm38) V505M probably damaging Het
Mpped2 A G 2: 106,744,720 (GRCm38) D50G probably damaging Het
Mtf1 T A 4: 124,821,230 (GRCm38) L216* probably null Het
Niban2 A T 2: 32,921,093 (GRCm38) M372L probably benign Het
Obscn T C 11: 58,999,812 (GRCm38) E7298G unknown Het
Or52ab7 A T 7: 103,329,005 (GRCm38) H173L possibly damaging Het
Or56a3 T C 7: 105,086,556 (GRCm38) L280P probably damaging Het
Or6c205 T C 10: 129,251,014 (GRCm38) L160P probably benign Het
Or7d9 A G 9: 20,286,062 (GRCm38) D129G probably damaging Het
Otulinl T A 15: 27,664,798 (GRCm38) H24L probably benign Het
Pax2 G A 19: 44,788,776 (GRCm38) probably null Het
Pcnt T A 10: 76,408,841 (GRCm38) E1135V probably damaging Het
Pgap3 A T 11: 98,391,098 (GRCm38) V129D probably benign Het
Ppfia4 T C 1: 134,299,384 (GRCm38) T1138A Het
Prickle4 A G 17: 47,690,662 (GRCm38) L32P Het
Prl2c2 C T 13: 12,997,311 (GRCm38) G158R probably damaging Het
Psd3 A G 8: 67,758,098 (GRCm38) I752T probably benign Het
Sag A T 1: 87,828,436 (GRCm38) Y255F probably benign Het
Scn7a A T 2: 66,675,855 (GRCm38) D1563E probably damaging Het
Secisbp2 A G 13: 51,683,368 (GRCm38) N855S probably benign Het
Setd2 T C 9: 110,592,399 (GRCm38) V2011A probably benign Het
Slc30a6 T C 17: 74,423,117 (GRCm38) V334A probably damaging Het
Spen A G 4: 141,477,209 (GRCm38) V1369A unknown Het
Stac2 T C 11: 98,041,547 (GRCm38) T207A probably benign Het
Syne2 T C 12: 75,905,293 (GRCm38) V445A probably benign Het
Tas2r131 C A 6: 132,957,504 (GRCm38) W114L probably damaging Het
Tgfbrap1 G A 1: 43,049,799 (GRCm38) R815* probably null Het
Trpv2 A T 11: 62,590,286 (GRCm38) I404L probably benign Het
Zfp236 G A 18: 82,598,997 (GRCm38) T1791M 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
R9016:Polq UTSW 16 37,022,797 (GRCm38) missense probably damaging 1.00
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'- CCAAAGCAGCAGTATGGTTTCTG -3'
(R):5'- CTCGTTCTTAAAGAAAACTCACCTC -3'

Sequencing Primer
(F):5'- AAGCAGCAGTATGGTTTCTGGTAAC -3'
(R):5'- AACTCACCTCATATTTTTGACATGC -3'
Posted On 2021-07-15