Mutagenetix > Incidental Mutation

Incidental Mutation 'R4834:Polq'

373109

Institutional Source

Beutler Lab

Gene Symbol

Polq

Ensembl Gene

ENSMUSG00000034206

Gene Name

polymerase (DNA directed), theta

Synonyms

A430110D14Rik

MMRRC Submission

041977-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.413) question?

Stock #

R4834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37011786-37095417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37027814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 261 (V261D)

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: V261D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059757
Gene: ENSMUSG00000034206
AA Change: V261D

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

SMART Domains

Protein: ENSMUSP00000071396
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	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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,432,487	D146A	possibly damaging	Het
Acsl5	C	A	19: 55,280,559	D217E	probably benign	Het
Acss3	A	G	10: 107,084,805		probably null	Het
Adam24	G	A	8: 40,679,699	G69R	probably damaging	Het
Adgrg7	A	T	16: 56,732,869	W622R	probably damaging	Het
Ankrd26	T	C	6: 118,523,718	M931V	probably benign	Het
Ano8	C	T	8: 71,484,295	V187M	probably damaging	Het
Ap3d1	A	T	10: 80,719,726	C348S	probably damaging	Het
Apob	T	C	12: 8,014,101	V376A	possibly damaging	Het
Arhgap21	A	T	2: 20,865,319	D925E	probably damaging	Het
Bmp6	T	A	13: 38,485,841	V367E	probably damaging	Het
Bmp8b	A	T	4: 123,123,050	Q348L	probably damaging	Het
Ccr1l1	T	C	9: 123,977,705	K235R	probably damaging	Het
Cd59a	G	A	2: 104,114,086	C93Y	probably damaging	Het
Clstn3	C	T	6: 124,431,953		probably null	Het
Col4a2	C	A	8: 11,406,836	Y236*	probably null	Het
Csn1s2a	T	C	5: 87,781,778	F79L	probably benign	Het
Cyp4a10	A	C	4: 115,525,808	Y360S	probably damaging	Het
Cyp4a29	A	T	4: 115,249,670	I175F	probably benign	Het
D11Wsu47e	C	A	11: 113,688,979	T400K	probably benign	Het
Dck	T	A	5: 88,772,736	I105N	probably damaging	Het
Dicer1	A	G	12: 104,696,591	L1577P	probably benign	Het
Dirc2	T	A	16: 35,735,575	T172S	probably benign	Het
Disp2	G	A	2: 118,792,504	S1239N	probably benign	Het
Dopey2	T	C	16: 93,740,004	M1T	probably null	Het
E130308A19Rik	T	A	4: 59,690,317	C50*	probably null	Het
Elf2	A	T	3: 51,277,221	D14E	probably damaging	Het
Epm2aip1	C	T	9: 111,273,194	R412C	probably benign	Het
Foxm1	T	C	6: 128,369,447	F114L	probably damaging	Het
Glcci1	C	T	6: 8,582,601	R134*	probably null	Het
Gm996	T	C	2: 25,579,518	E127G	possibly damaging	Het
Gspt1	T	C	16: 11,222,717	K576E	probably damaging	Het
H2-M10.3	T	C	17: 36,367,394	K180E	probably benign	Het
Hecw2	A	T	1: 53,830,752	V1439E	probably damaging	Het
Hr	T	C	14: 70,559,922	S561P	probably damaging	Het
Hunk	T	C	16: 90,496,198	V456A	probably benign	Het
Il1rap	T	A	16: 26,676,935	D97E	probably damaging	Het
Inpp5d	T	G	1: 87,697,523	V474G	possibly damaging	Het
Itsn1	T	A	16: 91,906,789	L87*	probably null	Het
Izumo3	T	C	4: 92,146,971	D3G	possibly damaging	Het
Kifc2	T	A	15: 76,661,311	M1K	probably null	Het
Krt8	T	A	15: 101,998,821	I276F	probably damaging	Het
Ksr2	C	A	5: 117,668,327	Q402K	probably benign	Het
Lama2	A	G	10: 27,006,749	V2606A	probably benign	Het
Met	A	G	6: 17,491,413	H58R	probably damaging	Het
Mier3	C	T	13: 111,715,109	Q542*	probably null	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Msl3l2	C	T	10: 56,115,559	R127C	probably damaging	Het
Naglu	T	C	11: 101,076,988	L588P	probably benign	Het
Nf1	T	C	11: 79,546,297	L2013P	probably damaging	Het
Nid1	A	G	13: 13,508,823	Y1162C	probably damaging	Het
Nlrc5	G	T	8: 94,505,485	R1313L	probably benign	Het
Nrg1	A	G	8: 31,917,719	V162A	probably benign	Het
Nup188	T	C	2: 30,339,584	L1310P	probably damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1310	A	G	2: 112,008,931	L85P	probably damaging	Het
Olfr290	T	G	7: 84,916,283	F168C	probably damaging	Het
Olfr305	G	A	7: 86,363,744	L198F	probably benign	Het
Pbk	T	A	14: 65,815,284	L192*	probably null	Het
Pcdhga4	T	C	18: 37,685,437	I13T	probably benign	Het
Peg10	A	T	6: 4,754,294		probably benign	Het
Ppp2r5b	T	A	19: 6,230,510	T313S	possibly damaging	Het
Ptk2	A	T	15: 73,216,096		probably null	Het
Ptpn7	T	A	1: 135,137,880		probably null	Het
Rab11fip1	A	G	8: 27,153,083	S563P	probably damaging	Het
Scn1a	A	T	2: 66,328,522	C351*	probably null	Het
Slc10a5	A	T	3: 10,334,799	V267D	probably damaging	Het
Slc37a2	T	A	9: 37,235,108	M368L	probably damaging	Het
Slc6a20b	T	A	9: 123,596,048	T585S	probably benign	Het
Srcap	T	C	7: 127,557,610		probably null	Het
Tbx18	T	C	9: 87,727,449	M178V	possibly damaging	Het
Tmprss11b	C	A	5: 86,663,559	C172F	probably damaging	Het
Traf5	T	C	1: 192,066,898	Q91R	probably benign	Het
Trappc8	A	T	18: 20,825,065	Y1248N	probably damaging	Het
Trpa1	A	G	1: 14,896,523	L539S	possibly damaging	Het
Tyrp1	T	A	4: 80,846,596	Y3*	probably null	Het
Ubr7	A	T	12: 102,761,502	K94N	probably damaging	Het
Ugt2a1	C	A	5: 87,486,035		probably null	Het
Unc50	T	A	1: 37,432,629	I120K	probably damaging	Het
Usp28	T	C	9: 49,001,536	V29A	probably damaging	Het
Usp9y	A	G	Y: 1,317,002	I1849T	probably benign	Het
Vmn2r102	T	A	17: 19,677,941	V406E	probably damaging	Het
Vmn2r4	G	A	3: 64,410,063	R85W	probably benign	Het
Xirp2	A	G	2: 67,516,406	D2997G	probably benign	Het
Zc2hc1c	A	T	12: 85,290,208	E213V	probably damaging	Het
Zfp420	C	T	7: 29,874,334		probably benign	Het
Zfp641	C	T	15: 98,293,704	E34K	probably damaging	Het

Other mutations in Polq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Polq	APN	16	37065247	splice site	probably benign
IGL00539:Polq	APN	16	37060569	missense	probably damaging	0.98
IGL00960:Polq	APN	16	37060512	missense	probably damaging	0.96
IGL01100:Polq	APN	16	37061112	missense	probably benign
IGL01112:Polq	APN	16	37017309	missense	probably damaging	1.00
IGL01138:Polq	APN	16	37045869	missense	possibly damaging	0.94
IGL01432:Polq	APN	16	37071822	splice site	probably benign
IGL01522:Polq	APN	16	37027903	missense	probably damaging	1.00
IGL01565:Polq	APN	16	37013113	missense	probably benign	0.00
IGL01592:Polq	APN	16	37034850	missense	probably benign	0.01
IGL01690:Polq	APN	16	37062838	missense	probably damaging	0.97
IGL01943:Polq	APN	16	37061443	missense	possibly damaging	0.47
IGL02531:Polq	APN	16	37062374	missense	possibly damaging	0.75
IGL02553:Polq	APN	16	37041768	missense	probably damaging	1.00
IGL02623:Polq	APN	16	37060375	missense	probably benign	0.04
IGL02692:Polq	APN	16	37060627	missense	probably damaging	1.00
IGL02717:Polq	APN	16	37022740	missense	probably damaging	1.00
IGL02937:Polq	APN	16	37013109	missense	probably benign	0.14
IGL02959:Polq	APN	16	37086566	missense	probably damaging	1.00
IGL03086:Polq	APN	16	37091049	missense	probably benign	0.02
IGL03141:Polq	APN	16	37017358	splice site	probably benign
IGL03302:Polq	APN	16	37071772	missense	probably damaging	1.00
IGL03393:Polq	APN	16	37044794	missense	probably damaging	1.00
R0013_Polq_667	UTSW	16	37061839	missense	possibly damaging	0.56
R4238_Polq_233	UTSW	16	37013181	missense	probably damaging	1.00
R4280_polq_867	UTSW	16	37082057	missense	probably damaging	1.00
G1Funyon:Polq	UTSW	16	37061819	missense	probably damaging	1.00
PIT4403001:Polq	UTSW	16	37060587	missense	probably benign	0.00
R0013:Polq	UTSW	16	37061839	missense	possibly damaging	0.56
R0082:Polq	UTSW	16	37017257	missense	probably benign	0.01
R0212:Polq	UTSW	16	37066854	missense	probably damaging	0.99
R0387:Polq	UTSW	16	37029430	missense	probably damaging	1.00
R0387:Polq	UTSW	16	37089317	missense	probably damaging	1.00
R0427:Polq	UTSW	16	37061993	nonsense	probably null
R0454:Polq	UTSW	16	37034890	missense	probably damaging	0.98
R0513:Polq	UTSW	16	37094502	missense	probably damaging	1.00
R0622:Polq	UTSW	16	37060993	missense	probably benign	0.02
R0848:Polq	UTSW	16	37062130	missense	probably benign	0.08
R1142:Polq	UTSW	16	37013217	missense	probably damaging	0.98
R1218:Polq	UTSW	16	37029446	missense	possibly damaging	0.93
R1331:Polq	UTSW	16	37041747	missense	probably damaging	1.00
R1398:Polq	UTSW	16	37062495	missense	possibly damaging	0.87
R1424:Polq	UTSW	16	37086528	missense	probably damaging	1.00
R1644:Polq	UTSW	16	37060264	missense	probably damaging	0.96
R1777:Polq	UTSW	16	37060224	missense	possibly damaging	0.94
R1820:Polq	UTSW	16	37029418	missense	possibly damaging	0.48
R1854:Polq	UTSW	16	37062109	missense	probably benign	0.01
R1880:Polq	UTSW	16	37086592	missense	possibly damaging	0.90
R1932:Polq	UTSW	16	37062304	missense	possibly damaging	0.92
R2008:Polq	UTSW	16	37062482	missense	probably damaging	0.96
R2014:Polq	UTSW	16	37078366	missense	probably damaging	1.00
R2026:Polq	UTSW	16	37062745	missense	possibly damaging	0.93
R2178:Polq	UTSW	16	37062829	missense	probably damaging	1.00
R2259:Polq	UTSW	16	37062097	missense	probably benign	0.03
R2266:Polq	UTSW	16	37062153	missense	possibly damaging	0.59
R2305:Polq	UTSW	16	37062337	missense	probably damaging	0.99
R2370:Polq	UTSW	16	37073939	missense	probably damaging	1.00
R2504:Polq	UTSW	16	37011942	missense	unknown
R2517:Polq	UTSW	16	37089325	missense	probably damaging	1.00
R2697:Polq	UTSW	16	37042153	missense	probably damaging	1.00
R2858:Polq	UTSW	16	37062753	missense	possibly damaging	0.88
R3436:Polq	UTSW	16	37062337	missense	probably damaging	0.99
R3437:Polq	UTSW	16	37062337	missense	probably damaging	0.99
R3699:Polq	UTSW	16	37042156	missense	probably damaging	1.00
R3838:Polq	UTSW	16	37078349	missense	probably damaging	1.00
R3875:Polq	UTSW	16	37074027	missense	probably damaging	0.99
R4050:Polq	UTSW	16	37092820	critical splice acceptor site	probably null
R4172:Polq	UTSW	16	37060758	missense	probably benign	0.02
R4238:Polq	UTSW	16	37013181	missense	probably damaging	1.00
R4240:Polq	UTSW	16	37013181	missense	probably damaging	1.00
R4280:Polq	UTSW	16	37082057	missense	probably damaging	1.00
R4296:Polq	UTSW	16	37061301	missense	possibly damaging	0.94
R4360:Polq	UTSW	16	37060339	missense	probably benign	0.00
R4373:Polq	UTSW	16	37013181	missense	probably damaging	1.00
R4375:Polq	UTSW	16	37013181	missense	probably damaging	1.00
R4376:Polq	UTSW	16	37013181	missense	probably damaging	1.00
R4509:Polq	UTSW	16	37048563	missense	probably damaging	1.00
R4510:Polq	UTSW	16	37048563	missense	probably damaging	1.00
R4511:Polq	UTSW	16	37048563	missense	probably damaging	1.00
R4543:Polq	UTSW	16	37060785	missense	probably benign	0.43
R4633:Polq	UTSW	16	37048542	missense	probably damaging	1.00
R4739:Polq	UTSW	16	37041747	missense	probably damaging	1.00
R4841:Polq	UTSW	16	37048783	critical splice donor site	probably null
R4842:Polq	UTSW	16	37048783	critical splice donor site	probably null
R4937:Polq	UTSW	16	37027912	missense	probably benign	0.01
R4955:Polq	UTSW	16	37061082	missense	probably benign	0.32
R4992:Polq	UTSW	16	37061162	missense	possibly damaging	0.59
R5008:Polq	UTSW	16	37062387	missense	probably benign
R5221:Polq	UTSW	16	37042178	missense	probably damaging	0.98
R5254:Polq	UTSW	16	37089319	missense	probably damaging	1.00
R5292:Polq	UTSW	16	37061383	missense	probably damaging	1.00
R5375:Polq	UTSW	16	37082784	missense	probably damaging	1.00
R5480:Polq	UTSW	16	37013290	splice site	probably benign
R5552:Polq	UTSW	16	37094510	missense	possibly damaging	0.93
R5591:Polq	UTSW	16	37011885	utr 5 prime	probably benign
R5653:Polq	UTSW	16	37040534	missense	probably damaging	1.00
R5708:Polq	UTSW	16	37061018	missense	probably damaging	0.98
R5754:Polq	UTSW	16	37017263	missense	probably benign
R5757:Polq	UTSW	16	37086681	missense	probably benign	0.01
R5764:Polq	UTSW	16	37017344	missense	probably damaging	0.97
R6019:Polq	UTSW	16	37061764	missense	probably damaging	1.00
R6170:Polq	UTSW	16	37045812	missense	possibly damaging	0.82
R6177:Polq	UTSW	16	37071709	missense	probably damaging	0.98
R6307:Polq	UTSW	16	37017356	critical splice donor site	probably null
R6499:Polq	UTSW	16	37060827	missense	probably benign	0.03
R6520:Polq	UTSW	16	37060377	missense	possibly damaging	0.88
R6598:Polq	UTSW	16	37061631	missense	probably benign	0.39
R6694:Polq	UTSW	16	37015173	missense	probably null	0.99
R6788:Polq	UTSW	16	37077148	missense	probably damaging	1.00
R7104:Polq	UTSW	16	37089353	nonsense	probably null
R7159:Polq	UTSW	16	37062853	missense	possibly damaging	0.87
R7222:Polq	UTSW	16	37086633	nonsense	probably null
R7340:Polq	UTSW	16	37060926	missense	probably benign	0.00
R7361:Polq	UTSW	16	37060428	missense	probably benign	0.00
R7384:Polq	UTSW	16	37029418	missense	probably damaging	1.00
R7509:Polq	UTSW	16	37060343	missense	probably benign
R7509:Polq	UTSW	16	37060344	missense	probably benign	0.00
R7575:Polq	UTSW	16	37091134	missense	probably benign	0.00
R7785:Polq	UTSW	16	37027877	missense	probably damaging	1.00
R7787:Polq	UTSW	16	37017309	missense	probably damaging	1.00
R7891:Polq	UTSW	16	37027882	missense	probably damaging	1.00
R7898:Polq	UTSW	16	37044883	missense	probably damaging	0.98
R7917:Polq	UTSW	16	37065288	missense	probably benign	0.08
R7940:Polq	UTSW	16	37060642	missense	probably benign	0.27
R8028:Polq	UTSW	16	37061316	missense	possibly damaging	0.82
R8114:Polq	UTSW	16	37042215	missense	possibly damaging	0.94
R8144:Polq	UTSW	16	37029484	missense	probably benign	0.01
R8288:Polq	UTSW	16	37027910	missense	probably damaging	1.00
R8301:Polq	UTSW	16	37061819	missense	probably damaging	1.00
R8341:Polq	UTSW	16	37071771	missense	possibly damaging	0.96
R8348:Polq	UTSW	16	37017197	critical splice acceptor site	probably null
R8448:Polq	UTSW	16	37017197	critical splice acceptor site	probably null
R8815:Polq	UTSW	16	37033531	missense	probably damaging	1.00
R8843:Polq	UTSW	16	37011918	missense	unknown
R8878:Polq	UTSW	16	37040507	missense	probably benign	0.02
R9016:Polq	UTSW	16	37022797	missense	probably damaging	1.00
R9189:Polq	UTSW	16	37044903	missense	probably damaging	1.00
R9209:Polq	UTSW	16	37048649	missense	possibly damaging	0.94
R9352:Polq	UTSW	16	37041890	missense	probably damaging	0.98
R9398:Polq	UTSW	16	37061032	missense	probably benign	0.02
R9403:Polq	UTSW	16	37061853	missense	probably benign	0.00
R9489:Polq	UTSW	16	37022811	missense	probably benign	0.00
R9605:Polq	UTSW	16	37022811	missense	probably benign	0.00
R9664:Polq	UTSW	16	37027814	missense	probably damaging	0.98
R9801:Polq	UTSW	16	37092828	missense	probably damaging	1.00
X0060:Polq	UTSW	16	37017237	nonsense	probably null
Z1176:Polq	UTSW	16	37042257	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTCCTGTAGTCTCTCCGTAATATTTA -3'
(R):5'- CTTGGAGCAGGGGTTGAAAT -3'

Sequencing Primer
(F):5'- GTTGGTACAGTCTCCCTGGAAAC -3'
(R):5'- CAGGGGTTGAAATTCTCTCACAAGC -3'

Posted On

2016-03-01