Mutagenetix > Incidental Mutation

Incidental Mutation 'R2305:Polq'

244572

Institutional Source

Beutler Lab

Gene Symbol

Polq

Ensembl Gene

ENSMUSG00000034206

Gene Name

polymerase (DNA directed), theta

Synonyms

A430110D14Rik

MMRRC Submission

040304-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.492) question?

Stock #

R2305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36832148-36915779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36882699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1342 (N1342I)

Ref Sequence

ENSEMBL: ENSMUSP00000071396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054034] [ENSMUST00000071452] [ENSMUST00000182946] [ENSMUST00000183112]

AlphaFold

Q8CGS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000054034
AA Change: N1621I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059757
Gene: ENSMUSG00000034206
AA Change: N1621I

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: N1342I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071396
Gene: ENSMUSG00000034206
AA Change: N1342I

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

noncoding transcript
Transcript: ENSMUST00000182622

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

Meta Mutation Damage Score

0.2990

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (32/32)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	C	A	2: 58,171,711 (GRCm39)	D295Y	probably damaging	Het
Adamts7	A	G	9: 90,062,764 (GRCm39)	D406G	probably benign	Het
Ankhd1	T	C	18: 36,775,979 (GRCm39)	S1443P	possibly damaging	Het
Casp8ap2	A	T	4: 32,646,411 (GRCm39)	K1828I	probably damaging	Het
Cep135	T	C	5: 76,743,236 (GRCm39)		probably benign	Het
Cyp3a57	A	G	5: 145,318,090 (GRCm39)	D357G	probably damaging	Het
Defb21	T	A	2: 152,416,791 (GRCm39)	L89Q	possibly damaging	Het
Dnah5	A	T	15: 28,387,913 (GRCm39)	E3124V	probably benign	Het
Efcab7	A	G	4: 99,719,718 (GRCm39)	T67A	possibly damaging	Het
Exo1	C	T	1: 175,716,327 (GRCm39)	P148L	probably damaging	Het
Hps4	A	G	5: 112,494,527 (GRCm39)	I37V	probably damaging	Het
Krt9	T	A	11: 100,083,942 (GRCm39)	M30L	unknown	Het
Med25	C	A	7: 44,535,314 (GRCm39)	R37L	possibly damaging	Het
Or10ak12	T	G	4: 118,666,058 (GRCm39)	Q318H	probably benign	Het
Or5an10	T	C	19: 12,276,451 (GRCm39)	E15G	probably benign	Het
Phf3	G	A	1: 30,844,556 (GRCm39)	Q1468*	probably null	Het
Phkb	A	G	8: 86,770,431 (GRCm39)	K900R	possibly damaging	Het
Pirb	G	A	7: 3,715,990 (GRCm39)	H755Y	probably benign	Het
Polr2b	T	A	5: 77,468,284 (GRCm39)		probably benign	Het
Pus1	C	A	5: 110,922,826 (GRCm39)	M232I	probably benign	Het
Serpina3a	C	A	12: 104,082,787 (GRCm39)	Q187K	probably benign	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Syne1	C	T	10: 4,997,573 (GRCm39)	E465K	probably damaging	Het
Tektl1	T	C	10: 78,584,336 (GRCm39)	T360A	probably damaging	Het
Tlk2	T	G	11: 105,132,417 (GRCm39)	I217R	possibly damaging	Het
Tlr4	A	G	4: 66,758,338 (GRCm39)	D377G	probably damaging	Het
Tmtc1	T	C	6: 148,146,195 (GRCm39)	D866G	probably damaging	Het
Tubd1	T	A	11: 86,446,017 (GRCm39)	I219N	probably benign	Het
Ugt3a1	C	A	15: 9,351,203 (GRCm39)	P71T	probably benign	Het
Vmn1r64	A	G	7: 5,887,535 (GRCm39)	S3P	probably benign	Het

Other mutations in Polq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Polq	APN	16	36,885,609 (GRCm39)	splice site	probably benign
IGL00539:Polq	APN	16	36,880,931 (GRCm39)	missense	probably damaging	0.98
IGL00960:Polq	APN	16	36,880,874 (GRCm39)	missense	probably damaging	0.96
IGL01100:Polq	APN	16	36,881,474 (GRCm39)	missense	probably benign
IGL01112:Polq	APN	16	36,837,671 (GRCm39)	missense	probably damaging	1.00
IGL01138:Polq	APN	16	36,866,231 (GRCm39)	missense	possibly damaging	0.94
IGL01432:Polq	APN	16	36,892,184 (GRCm39)	splice site	probably benign
IGL01522:Polq	APN	16	36,848,265 (GRCm39)	missense	probably damaging	1.00
IGL01565:Polq	APN	16	36,833,475 (GRCm39)	missense	probably benign	0.00
IGL01592:Polq	APN	16	36,855,212 (GRCm39)	missense	probably benign	0.01
IGL01690:Polq	APN	16	36,883,200 (GRCm39)	missense	probably damaging	0.97
IGL01943:Polq	APN	16	36,881,805 (GRCm39)	missense	possibly damaging	0.47
IGL02531:Polq	APN	16	36,882,736 (GRCm39)	missense	possibly damaging	0.75
IGL02553:Polq	APN	16	36,862,130 (GRCm39)	missense	probably damaging	1.00
IGL02623:Polq	APN	16	36,880,737 (GRCm39)	missense	probably benign	0.04
IGL02692:Polq	APN	16	36,880,989 (GRCm39)	missense	probably damaging	1.00
IGL02717:Polq	APN	16	36,843,102 (GRCm39)	missense	probably damaging	1.00
IGL02937:Polq	APN	16	36,833,471 (GRCm39)	missense	probably benign	0.14
IGL02959:Polq	APN	16	36,906,928 (GRCm39)	missense	probably damaging	1.00
IGL03086:Polq	APN	16	36,911,411 (GRCm39)	missense	probably benign	0.02
IGL03141:Polq	APN	16	36,837,720 (GRCm39)	splice site	probably benign
IGL03302:Polq	APN	16	36,892,134 (GRCm39)	missense	probably damaging	1.00
IGL03393:Polq	APN	16	36,865,156 (GRCm39)	missense	probably damaging	1.00
R0013_Polq_667	UTSW	16	36,882,201 (GRCm39)	missense	possibly damaging	0.56
R4238_Polq_233	UTSW	16	36,833,543 (GRCm39)	missense	probably damaging	1.00
R4280_polq_867	UTSW	16	36,902,419 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Polq	UTSW	16	36,882,181 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Polq	UTSW	16	36,880,949 (GRCm39)	missense	probably benign	0.00
R0013:Polq	UTSW	16	36,882,201 (GRCm39)	missense	possibly damaging	0.56
R0082:Polq	UTSW	16	36,837,619 (GRCm39)	missense	probably benign	0.01
R0212:Polq	UTSW	16	36,887,216 (GRCm39)	missense	probably damaging	0.99
R0387:Polq	UTSW	16	36,909,679 (GRCm39)	missense	probably damaging	1.00
R0387:Polq	UTSW	16	36,849,792 (GRCm39)	missense	probably damaging	1.00
R0427:Polq	UTSW	16	36,882,355 (GRCm39)	nonsense	probably null
R0454:Polq	UTSW	16	36,855,252 (GRCm39)	missense	probably damaging	0.98
R0513:Polq	UTSW	16	36,914,864 (GRCm39)	missense	probably damaging	1.00
R0622:Polq	UTSW	16	36,881,355 (GRCm39)	missense	probably benign	0.02
R0848:Polq	UTSW	16	36,882,492 (GRCm39)	missense	probably benign	0.08
R1142:Polq	UTSW	16	36,833,579 (GRCm39)	missense	probably damaging	0.98
R1218:Polq	UTSW	16	36,849,808 (GRCm39)	missense	possibly damaging	0.93
R1331:Polq	UTSW	16	36,862,109 (GRCm39)	missense	probably damaging	1.00
R1398:Polq	UTSW	16	36,882,857 (GRCm39)	missense	possibly damaging	0.87
R1424:Polq	UTSW	16	36,906,890 (GRCm39)	missense	probably damaging	1.00
R1644:Polq	UTSW	16	36,880,626 (GRCm39)	missense	probably damaging	0.96
R1777:Polq	UTSW	16	36,880,586 (GRCm39)	missense	possibly damaging	0.94
R1820:Polq	UTSW	16	36,849,780 (GRCm39)	missense	possibly damaging	0.48
R1854:Polq	UTSW	16	36,882,471 (GRCm39)	missense	probably benign	0.01
R1880:Polq	UTSW	16	36,906,954 (GRCm39)	missense	possibly damaging	0.90
R1932:Polq	UTSW	16	36,882,666 (GRCm39)	missense	possibly damaging	0.92
R2008:Polq	UTSW	16	36,882,844 (GRCm39)	missense	probably damaging	0.96
R2014:Polq	UTSW	16	36,898,728 (GRCm39)	missense	probably damaging	1.00
R2026:Polq	UTSW	16	36,883,107 (GRCm39)	missense	possibly damaging	0.93
R2178:Polq	UTSW	16	36,883,191 (GRCm39)	missense	probably damaging	1.00
R2259:Polq	UTSW	16	36,882,459 (GRCm39)	missense	probably benign	0.03
R2266:Polq	UTSW	16	36,882,515 (GRCm39)	missense	possibly damaging	0.59
R2370:Polq	UTSW	16	36,894,301 (GRCm39)	missense	probably damaging	1.00
R2504:Polq	UTSW	16	36,832,304 (GRCm39)	missense	unknown
R2517:Polq	UTSW	16	36,909,687 (GRCm39)	missense	probably damaging	1.00
R2697:Polq	UTSW	16	36,862,515 (GRCm39)	missense	probably damaging	1.00
R2858:Polq	UTSW	16	36,883,115 (GRCm39)	missense	possibly damaging	0.88
R3436:Polq	UTSW	16	36,882,699 (GRCm39)	missense	probably damaging	0.99
R3437:Polq	UTSW	16	36,882,699 (GRCm39)	missense	probably damaging	0.99
R3699:Polq	UTSW	16	36,862,518 (GRCm39)	missense	probably damaging	1.00
R3838:Polq	UTSW	16	36,898,711 (GRCm39)	missense	probably damaging	1.00
R3875:Polq	UTSW	16	36,894,389 (GRCm39)	missense	probably damaging	0.99
R4050:Polq	UTSW	16	36,913,182 (GRCm39)	critical splice acceptor site	probably null
R4172:Polq	UTSW	16	36,881,120 (GRCm39)	missense	probably benign	0.02
R4238:Polq	UTSW	16	36,833,543 (GRCm39)	missense	probably damaging	1.00
R4240:Polq	UTSW	16	36,833,543 (GRCm39)	missense	probably damaging	1.00
R4280:Polq	UTSW	16	36,902,419 (GRCm39)	missense	probably damaging	1.00
R4296:Polq	UTSW	16	36,881,663 (GRCm39)	missense	possibly damaging	0.94
R4360:Polq	UTSW	16	36,880,701 (GRCm39)	missense	probably benign	0.00
R4373:Polq	UTSW	16	36,833,543 (GRCm39)	missense	probably damaging	1.00
R4375:Polq	UTSW	16	36,833,543 (GRCm39)	missense	probably damaging	1.00
R4376:Polq	UTSW	16	36,833,543 (GRCm39)	missense	probably damaging	1.00
R4509:Polq	UTSW	16	36,868,925 (GRCm39)	missense	probably damaging	1.00
R4510:Polq	UTSW	16	36,868,925 (GRCm39)	missense	probably damaging	1.00
R4511:Polq	UTSW	16	36,868,925 (GRCm39)	missense	probably damaging	1.00
R4543:Polq	UTSW	16	36,881,147 (GRCm39)	missense	probably benign	0.43
R4633:Polq	UTSW	16	36,868,904 (GRCm39)	missense	probably damaging	1.00
R4739:Polq	UTSW	16	36,862,109 (GRCm39)	missense	probably damaging	1.00
R4834:Polq	UTSW	16	36,848,176 (GRCm39)	missense	probably damaging	1.00
R4841:Polq	UTSW	16	36,869,145 (GRCm39)	critical splice donor site	probably null
R4842:Polq	UTSW	16	36,869,145 (GRCm39)	critical splice donor site	probably null
R4937:Polq	UTSW	16	36,848,274 (GRCm39)	missense	probably benign	0.01
R4955:Polq	UTSW	16	36,881,444 (GRCm39)	missense	probably benign	0.32
R4992:Polq	UTSW	16	36,881,524 (GRCm39)	missense	possibly damaging	0.59
R5008:Polq	UTSW	16	36,882,749 (GRCm39)	missense	probably benign
R5221:Polq	UTSW	16	36,862,540 (GRCm39)	missense	probably damaging	0.98
R5254:Polq	UTSW	16	36,909,681 (GRCm39)	missense	probably damaging	1.00
R5292:Polq	UTSW	16	36,881,745 (GRCm39)	missense	probably damaging	1.00
R5375:Polq	UTSW	16	36,903,146 (GRCm39)	missense	probably damaging	1.00
R5480:Polq	UTSW	16	36,833,652 (GRCm39)	splice site	probably benign
R5552:Polq	UTSW	16	36,914,872 (GRCm39)	missense	possibly damaging	0.93
R5591:Polq	UTSW	16	36,832,247 (GRCm39)	utr 5 prime	probably benign
R5653:Polq	UTSW	16	36,860,896 (GRCm39)	missense	probably damaging	1.00
R5708:Polq	UTSW	16	36,881,380 (GRCm39)	missense	probably damaging	0.98
R5754:Polq	UTSW	16	36,837,625 (GRCm39)	missense	probably benign
R5757:Polq	UTSW	16	36,907,043 (GRCm39)	missense	probably benign	0.01
R5764:Polq	UTSW	16	36,837,706 (GRCm39)	missense	probably damaging	0.97
R6019:Polq	UTSW	16	36,882,126 (GRCm39)	missense	probably damaging	1.00
R6170:Polq	UTSW	16	36,866,174 (GRCm39)	missense	possibly damaging	0.82
R6177:Polq	UTSW	16	36,892,071 (GRCm39)	missense	probably damaging	0.98
R6307:Polq	UTSW	16	36,837,718 (GRCm39)	critical splice donor site	probably null
R6499:Polq	UTSW	16	36,881,189 (GRCm39)	missense	probably benign	0.03
R6520:Polq	UTSW	16	36,880,739 (GRCm39)	missense	possibly damaging	0.88
R6598:Polq	UTSW	16	36,881,993 (GRCm39)	missense	probably benign	0.39
R6694:Polq	UTSW	16	36,835,535 (GRCm39)	missense	probably null	0.99
R6788:Polq	UTSW	16	36,897,510 (GRCm39)	missense	probably damaging	1.00
R7104:Polq	UTSW	16	36,909,715 (GRCm39)	nonsense	probably null
R7159:Polq	UTSW	16	36,883,215 (GRCm39)	missense	possibly damaging	0.87
R7222:Polq	UTSW	16	36,906,995 (GRCm39)	nonsense	probably null
R7340:Polq	UTSW	16	36,881,288 (GRCm39)	missense	probably benign	0.00
R7361:Polq	UTSW	16	36,880,790 (GRCm39)	missense	probably benign	0.00
R7384:Polq	UTSW	16	36,849,780 (GRCm39)	missense	probably damaging	1.00
R7509:Polq	UTSW	16	36,880,706 (GRCm39)	missense	probably benign	0.00
R7509:Polq	UTSW	16	36,880,705 (GRCm39)	missense	probably benign
R7575:Polq	UTSW	16	36,911,496 (GRCm39)	missense	probably benign	0.00
R7785:Polq	UTSW	16	36,848,239 (GRCm39)	missense	probably damaging	1.00
R7787:Polq	UTSW	16	36,837,671 (GRCm39)	missense	probably damaging	1.00
R7891:Polq	UTSW	16	36,848,244 (GRCm39)	missense	probably damaging	1.00
R7898:Polq	UTSW	16	36,865,245 (GRCm39)	missense	probably damaging	0.98
R7917:Polq	UTSW	16	36,885,650 (GRCm39)	missense	probably benign	0.08
R7940:Polq	UTSW	16	36,881,004 (GRCm39)	missense	probably benign	0.27
R8028:Polq	UTSW	16	36,881,678 (GRCm39)	missense	possibly damaging	0.82
R8114:Polq	UTSW	16	36,862,577 (GRCm39)	missense	possibly damaging	0.94
R8144:Polq	UTSW	16	36,849,846 (GRCm39)	missense	probably benign	0.01
R8288:Polq	UTSW	16	36,848,272 (GRCm39)	missense	probably damaging	1.00
R8301:Polq	UTSW	16	36,882,181 (GRCm39)	missense	probably damaging	1.00
R8341:Polq	UTSW	16	36,892,133 (GRCm39)	missense	possibly damaging	0.96
R8348:Polq	UTSW	16	36,837,559 (GRCm39)	critical splice acceptor site	probably null
R8448:Polq	UTSW	16	36,837,559 (GRCm39)	critical splice acceptor site	probably null
R8815:Polq	UTSW	16	36,853,893 (GRCm39)	missense	probably damaging	1.00
R8843:Polq	UTSW	16	36,832,280 (GRCm39)	missense	unknown
R8878:Polq	UTSW	16	36,860,869 (GRCm39)	missense	probably benign	0.02
R9016:Polq	UTSW	16	36,843,159 (GRCm39)	missense	probably damaging	1.00
R9189:Polq	UTSW	16	36,865,265 (GRCm39)	missense	probably damaging	1.00
R9209:Polq	UTSW	16	36,869,011 (GRCm39)	missense	possibly damaging	0.94
R9352:Polq	UTSW	16	36,862,252 (GRCm39)	missense	probably damaging	0.98
R9398:Polq	UTSW	16	36,881,394 (GRCm39)	missense	probably benign	0.02
R9403:Polq	UTSW	16	36,882,215 (GRCm39)	missense	probably benign	0.00
R9489:Polq	UTSW	16	36,843,173 (GRCm39)	missense	probably benign	0.00
R9605:Polq	UTSW	16	36,843,173 (GRCm39)	missense	probably benign	0.00
R9664:Polq	UTSW	16	36,848,176 (GRCm39)	missense	probably damaging	0.98
R9801:Polq	UTSW	16	36,913,190 (GRCm39)	missense	probably damaging	1.00
X0060:Polq	UTSW	16	36,837,599 (GRCm39)	nonsense	probably null
Z1176:Polq	UTSW	16	36,862,619 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGTGTCCCCAAGGAAAAC -3'
(R):5'- GAGGCCATTGTCATCAGCTG -3'

Sequencing Primer
(F):5'- GTGTCCCCAAGGAAAACTGGTC -3'
(R):5'- CAGCACTTTCTTTACGAGGCAAGG -3'

Posted On

2014-10-30