Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00539:Polq'

5792

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 #

IGL00539

Quality Score

Status

Chromosome

Chromosomal Location

37011786-37095417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37060569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 753 (T753A)

Ref Sequence

ENSEMBL: ENSMUSP00000071396 (fasta)

Gene Model

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

AlphaFold

Q8CGS6

Predicted Effect

probably benign
Transcript: ENSMUST00000054034
AA Change: T1032A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000059757
Gene: ENSMUSG00000034206
AA Change: T1032A

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: T753A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071396
Gene: ENSMUSG00000034206
AA Change: T753A

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	A	19: 9,007,908 (GRCm38)	D2185E	possibly damaging	Het
Camk2b	A	G	11: 5,972,310 (GRCm38)	S560P	probably damaging	Het
Cdh13	C	A	8: 119,312,506 (GRCm38)	N562K	possibly damaging	Het
Cdhr4	A	G	9: 107,999,545 (GRCm38)	Y771C	probably damaging	Het
Ermap	A	G	4: 119,183,917 (GRCm38)	S299P	probably damaging	Het
Fgd3	A	G	13: 49,275,643 (GRCm38)		probably benign	Het
Fpr-rs4	T	A	17: 18,021,926 (GRCm38)	L65Q	probably damaging	Het
Hsph1	C	T	5: 149,618,789 (GRCm38)	R723H	possibly damaging	Het
Iqcb1	A	G	16: 36,858,511 (GRCm38)	K396E	probably damaging	Het
Kif21a	T	C	15: 90,937,301 (GRCm38)	T1424A	probably damaging	Het
Mpdz	T	C	4: 81,361,351 (GRCm38)	S700G	possibly damaging	Het
Mta3	G	A	17: 83,762,983 (GRCm38)	R39Q	probably benign	Het
Muc4	A	T	16: 32,750,910 (GRCm38)	T263S	possibly damaging	Het
Ncan	G	A	8: 70,115,271 (GRCm38)	P64S	probably benign	Het
Pisd	T	C	5: 32,738,412 (GRCm38)	I441V	probably benign	Het
Pla2g4f	T	C	2: 120,302,738 (GRCm38)	H660R	possibly damaging	Het
Ptchd4	C	T	17: 42,316,926 (GRCm38)	Q93*	probably null	Het
Sfpq	T	C	4: 127,023,688 (GRCm38)	V437A	possibly damaging	Het
Slc18b1	G	A	10: 23,824,761 (GRCm38)		probably null	Het
Taf1c	C	T	8: 119,601,328 (GRCm38)	V277I	possibly damaging	Het
Tcf20	T	A	15: 82,852,756 (GRCm38)	Q1498L	probably benign	Het
Tet1	C	A	10: 62,814,497 (GRCm38)	C1644F	probably damaging	Het
Trmt5	T	C	12: 73,284,919 (GRCm38)	E121G	possibly damaging	Het
Wapl	A	G	14: 34,695,008 (GRCm38)	D525G	probably damaging	Het
Ylpm1	A	G	12: 85,028,954 (GRCm38)	T360A	possibly damaging	Het
Zfp292	G	A	4: 34,808,790 (GRCm38)	P1418L	probably 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
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
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

Posted On

2012-04-20