Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03086:Polq'

418097

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polq

Ensembl Gene

ENSMUSG00000034206

Gene Name

polymerase (DNA directed), theta

Synonyms

A430110D14Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03086

Quality Score

Status

Chromosome

Chromosomal Location

36832148-36915779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36911411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 2382 (R2382K)

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: R2382K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000059757
Gene: ENSMUSG00000034206
AA Change: R2382K

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 benign
Transcript: ENSMUST00000071452
AA Change: R2103K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000071396
Gene: ENSMUSG00000034206
AA Change: R2103K

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: ENSMUST00000182717

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	A	G	1: 72,682,437 (GRCm39)	I1158T	possibly damaging	Het
Ankrd11	A	G	8: 123,621,249 (GRCm39)	S868P	probably damaging	Het
Atad3a	C	T	4: 155,833,127 (GRCm39)		probably null	Het
Cadm4	A	T	7: 24,200,240 (GRCm39)	N250Y	probably damaging	Het
Cd300c2	T	C	11: 114,891,649 (GRCm39)	E75G	possibly damaging	Het
Cdc23	A	C	18: 34,770,239 (GRCm39)		probably benign	Het
Cep97	A	G	16: 55,735,659 (GRCm39)	S380P	probably benign	Het
Ckap5	T	A	2: 91,400,621 (GRCm39)		probably benign	Het
Col6a4	A	T	9: 105,960,061 (GRCm39)		probably benign	Het
Dclk1	G	A	3: 55,154,788 (GRCm39)	V73M	probably damaging	Het
Dnah8	T	C	17: 30,961,754 (GRCm39)	L2297P	probably damaging	Het
Eif2a	A	G	3: 58,448,538 (GRCm39)	I124V	probably benign	Het
Fam227b	A	T	2: 125,960,951 (GRCm39)	I226K	probably benign	Het
Fcgr1	G	T	3: 96,191,814 (GRCm39)	Y331*	probably null	Het
Helq	T	C	5: 100,944,793 (GRCm39)	T106A	possibly damaging	Het
Ly9	A	T	1: 171,432,738 (GRCm39)	Y92N	probably benign	Het
Myom1	G	A	17: 71,415,666 (GRCm39)	C1256Y	probably damaging	Het
Ndc80	G	A	17: 71,827,920 (GRCm39)	T104I	probably benign	Het
Or1x2	T	A	11: 50,918,557 (GRCm39)	C243S	probably damaging	Het
Or2y1d	A	G	11: 49,321,632 (GRCm39)	T110A	probably benign	Het
Or51a8	T	C	7: 102,549,613 (GRCm39)	F13S	probably damaging	Het
Or5e1	A	T	7: 108,355,003 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,969,273 (GRCm39)	N679S	probably damaging	Het
Recql4	C	T	15: 76,590,468 (GRCm39)	R672Q	probably benign	Het
Selenbp2	A	G	3: 94,606,945 (GRCm39)	N197S	probably damaging	Het
Sirpb1a	C	A	3: 15,491,388 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,054,856 (GRCm39)	D832E	probably benign	Het
Slc13a1	G	A	6: 24,118,002 (GRCm39)	A245V	probably damaging	Het
Unc80	A	G	1: 66,548,633 (GRCm39)	D635G	probably damaging	Het
Utp18	T	C	11: 93,766,882 (GRCm39)	Q275R	probably damaging	Het
Wdr35	A	G	12: 9,058,692 (GRCm39)		probably null	Het
Zfyve26	A	G	12: 79,342,338 (GRCm39)	V36A	probably damaging	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
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
R2305:Polq	UTSW	16	36,882,699 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2016-08-02