Mutagenetix > Incidental Mutation

Incidental Mutation 'R9801:Polq'

735230

Institutional Source

Beutler Lab

Gene Symbol

Polq

Ensembl Gene

ENSMUSG00000034206

Gene Name

polymerase (DNA directed), theta

Synonyms

A430110D14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.382) question?

Stock #

R9801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37011786-37095417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37092828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 2420 (R2420C)

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: R2420C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059757
Gene: ENSMUSG00000034206
AA Change: R2420C

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000071452
AA Change: R2141C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071396
Gene: ENSMUSG00000034206
AA Change: R2141C

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,898,766 (GRCm38)	N330K	probably benign	Het
4933402J07Rik	A	G	8: 87,564,089 (GRCm38)	E25G	probably damaging	Het
Acss3	T	C	10: 107,045,230 (GRCm38)	T297A	possibly damaging	Het
Anks1	A	G	17: 28,008,059 (GRCm38)	E562G	possibly damaging	Het
Atg12	T	C	18: 46,741,393 (GRCm38)	T52A	probably benign	Het
Bbox1	T	A	2: 110,270,073 (GRCm38)	T260S	probably benign	Het
Btbd3	C	T	2: 138,280,448 (GRCm38)	R173*	probably null	Het
Cbr1	A	C	16: 93,609,799 (GRCm38)	R134S	probably damaging	Het
Cdcp2	A	T	4: 107,107,065 (GRCm38)	I371F	possibly damaging	Het
Cntrob	T	C	11: 69,321,407 (GRCm38)	E124G	possibly damaging	Het
Cstf3	T	C	2: 104,590,679 (GRCm38)	S2P	possibly damaging	Het
Ctbs	T	C	3: 146,463,924 (GRCm38)	V312A	probably damaging	Het
Cylc2	T	A	4: 51,228,466 (GRCm38)	V179E	probably null	Het
Dip2c	T	C	13: 9,576,900 (GRCm38)	L658P	probably damaging	Het
Dus4l	A	G	12: 31,648,828 (GRCm38)	I59T	probably damaging	Het
Extl3	A	T	14: 65,077,333 (GRCm38)	N133K	probably benign	Het
Fam83d	T	A	2: 158,768,390 (GRCm38)	C93S	probably damaging	Het
Galr1	T	C	18: 82,405,787 (GRCm38)	S122G	possibly damaging	Het
Glra3	G	A	8: 56,110,528 (GRCm38)	V353M	probably damaging	Het
H2-M10.4	A	T	17: 36,460,619 (GRCm38)	N222K	probably damaging	Het
Klra7	C	T	6: 130,228,514 (GRCm38)		probably null	Het
Lyst	T	A	13: 13,634,705 (GRCm38)	V320E	probably damaging	Het
Me3	A	C	7: 89,786,449 (GRCm38)	D164A	probably damaging	Het
Mfsd14b	C	A	13: 65,073,600 (GRCm38)	V293L	probably benign	Het
Nbr1	C	A	11: 101,556,199 (GRCm38)	Q4K	probably damaging	Het
Nr1i3	T	C	1: 171,217,683 (GRCm38)	L300P	probably damaging	Het
Pemt	T	A	11: 59,983,461 (GRCm38)	N101I	probably damaging	Het
Pkd1l1	C	A	11: 8,958,964 (GRCm38)	E347*	probably null	Het
Plxna4	C	T	6: 32,163,591 (GRCm38)		probably null	Het
Psg22	T	C	7: 18,722,974 (GRCm38)	Y261H	probably benign	Het
Pum1	C	T	4: 130,754,017 (GRCm38)	S722L	probably benign	Het
Rbl2	T	C	8: 91,095,601 (GRCm38)	Y464H	probably benign	Het
Rnf145	T	A	11: 44,557,285 (GRCm38)	I323N	probably damaging	Het
Scgb2b7	A	T	7: 31,705,155 (GRCm38)	V40E	probably damaging	Het
Slmap	G	A	14: 26,422,440 (GRCm38)	A764V	probably damaging	Het
Smarca4	G	T	9: 21,675,101 (GRCm38)	L1139F	probably damaging	Het
Svil	A	G	18: 5,049,062 (GRCm38)	E113G	probably damaging	Het
Taf4b	T	C	18: 14,799,178 (GRCm38)	S196P	probably benign	Het
Tcp10b	A	G	17: 13,062,980 (GRCm38)	E79G	possibly damaging	Het
Tet3	T	A	6: 83,369,454 (GRCm38)	N1334Y	possibly damaging	Het
Tll2	A	G	19: 41,206,554 (GRCm38)	V31A	probably benign	Het
Tmem5	T	A	10: 122,090,703 (GRCm38)	N168I	probably damaging	Het
Trappc10	A	G	10: 78,209,429 (GRCm38)	I475T	probably benign	Het
Uba3	T	A	6: 97,185,674 (GRCm38)	D387V	probably benign	Het
Vwa1	G	A	4: 155,772,879 (GRCm38)	P154L	probably damaging	Het
Zfp260	T	C	7: 30,105,512 (GRCm38)	I279T	possibly damaging	Het

Other mutations in Polq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGATCCTTAACTGAACGTTGAAG -3'
(R):5'- TTAGATCTACCAAGCACCTCACTG -3'

Sequencing Primer
(F):5'- CATAGTCTACTCTCATATGGGTGGC -3'
(R):5'- CTGCTATATAGACAAACCTGTTCGG -3'

Posted On

2022-11-14