Mutagenetix > Incidental Mutation

Incidental Mutation 'R9489:Polq'

716864

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: 0.413) question?

Stock #

R9489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37011786-37095417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37022811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 236 (I236V)

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: I236V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000059757
Gene: ENSMUSG00000034206
AA Change: I236V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,854,869	S24C	probably damaging	Het
6430548M08Rik	G	A	8: 120,145,641	V103I	possibly damaging	Het
9230102O04Rik	CGG	CG	2: 9,883,264		probably null	Het
Acaca	C	T	11: 84,293,016	T1240I	probably benign	Het
Adam19	T	C	11: 46,137,622	V694A	probably benign	Het
Adipor1	A	G	1: 134,424,815	D108G	probably damaging	Het
Arhgef4	A	G	1: 34,722,664	T334A	unknown	Het
Bcl11a	T	C	11: 24,164,582	F642L	probably benign	Het
Camk2d	T	C	3: 126,767,560	Y108H	probably damaging	Het
Catsper1	A	G	19: 5,337,757	T355A	probably benign	Het
Ccdc69	T	A	11: 55,055,030	N50I	possibly damaging	Het
Chd8	A	T	14: 52,219,598	L971Q	probably damaging	Het
Chrna10	C	A	7: 102,113,594	A130S	probably benign	Het
Ciao1	G	A	2: 127,245,764	T217I	probably damaging	Het
Cldn1	A	T	16: 26,363,174	I95N	probably damaging	Het
Cluh	C	T	11: 74,667,946	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187	Q640L	probably benign	Het
Cyp2c40	A	T	19: 39,777,999	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,790,471	M437L	probably benign	Het
Cyp2j7	T	C	4: 96,215,354	T315A	probably damaging	Het
D430041D05Rik	A	G	2: 104,256,844	S596P	probably benign	Het
Dagla	A	T	19: 10,255,689	V448D	probably damaging	Het
Ddx59	A	T	1: 136,416,856	E88D	probably benign	Het
Dnhd1	A	G	7: 105,651,597	I54V	probably benign	Het
Dnttip1	A	C	2: 164,751,242	D95A	probably benign	Het
Efna3	T	C	3: 89,315,511	T207A	probably benign	Het
Eprs	A	C	1: 185,407,698	S995R	probably benign	Het
Eprs	G	A	1: 185,407,699	S995N	probably benign	Het
Erbb2	T	C	11: 98,420,920	V94A	possibly damaging	Het
Etl4	A	T	2: 20,766,534	I607F	possibly damaging	Het
Ets2	G	T	16: 95,715,077	E234*	probably null	Het
Fgf6	A	C	6: 127,015,851	Y89S	probably damaging	Het
Fmn2	C	T	1: 174,608,628	Q722*	probably null	Het
Gatsl2	G	T	5: 134,135,697	V166L	probably benign	Het
Gdpd5	A	G	7: 99,453,824	D330G		Het
Glipr1	A	G	10: 111,996,896	S46P	probably damaging	Het
Gnptab	A	G	10: 88,433,130	Y565C	probably damaging	Het
H2-M10.2	C	T	17: 36,286,044	V47I	probably benign	Het
Heatr5b	T	A	17: 78,753,250	K1999*	probably null	Het
Iqgap3	C	A	3: 88,108,869	F986L	probably damaging	Het
Kif9	G	A	9: 110,517,642	R616H	probably benign	Het
Krt87	G	T	15: 101,438,603	C56*	probably null	Het
Ldlr	A	G	9: 21,735,330	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,737,217	D998V	probably benign	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mmp9	A	G	2: 164,951,226	N432D	probably benign	Het
Mrc1	A	G	2: 14,319,299	N1149S	probably benign	Het
Mta1	A	T	12: 113,131,465	M448L	probably benign	Het
Myo1c	T	A	11: 75,669,073	V661E	probably benign	Het
Ndc1	T	C	4: 107,390,666		probably null	Het
Npy	A	C	6: 49,827,565	T89P	possibly damaging	Het
Olfr1148	T	G	2: 87,833,134	F32V	probably benign	Het
Olfr596	A	G	7: 103,310,245	I175V	probably benign	Het
Olfr671	A	T	7: 104,975,649	M116K	probably damaging	Het
Olfr870	A	G	9: 20,170,797	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427	H398Q	probably damaging	Het
Pepd	A	C	7: 35,043,793	D419A	probably benign	Het
Pikfyve	A	T	1: 65,264,402	S1694C	probably benign	Het
Prkag3	T	G	1: 74,747,219	Q189P	probably damaging	Het
Rab6b	A	T	9: 103,140,402	T31S	probably benign	Het
Ralgapb	C	T	2: 158,426,363	P129S	possibly damaging	Het
Ryr3	A	T	2: 112,661,621	L3795Q	probably damaging	Het
Sash1	C	T	10: 8,729,405	V1074M	probably benign	Het
Scfd2	T	C	5: 74,519,574	D306G	probably damaging	Het
Scg2	A	G	1: 79,435,219	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,319,834	N416S	probably damaging	Het
Serpinb6c	T	A	13: 33,897,438	Q76L	probably null	Het
Setd7	G	A	3: 51,542,718	Q96*	probably null	Het
Sf3b4	C	T	3: 96,173,630	R85W	probably damaging	Het
Sik3	T	A	9: 46,208,819	H735Q	probably benign	Het
Slain1	A	C	14: 103,664,676	T60P		Het
Slc36a3	T	C	11: 55,149,900	E69G	unknown	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spta1	A	G	1: 174,208,314	Y1062C	probably damaging	Het
Ssc5d	C	T	7: 4,937,600	P904L	probably benign	Het
Stat5b	T	A	11: 100,808,450	H25L	possibly damaging	Het
Synj2	A	G	17: 6,013,519	I513V	probably benign	Het
Tenm2	T	C	11: 36,943,964	E68G	probably damaging	Het
Thsd7a	C	T	6: 12,352,023	G1058R		Het
Traf3ip2	T	A	10: 39,645,776	D443E	probably benign	Het
Traf6	G	T	2: 101,694,280	C235F	probably damaging	Het
Treh	A	G	9: 44,681,119	D47G	probably damaging	Het
Txndc16	A	T	14: 45,205,342	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,234,805		probably null	Het
Usp25	A	T	16: 77,077,158	I541F	probably damaging	Het
Zfp51	A	G	17: 21,464,029	E302G	probably damaging	Het
Zfp648	A	T	1: 154,204,364	T90S	probably benign	Het
Zfp84	A	G	7: 29,776,839	T319A	possibly damaging	Het
Zkscan17	T	A	11: 59,487,211	H538L	probably damaging	Het
Zyg11a	G	T	4: 108,205,179	P142T	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
R4834:Polq	UTSW	16	37027814	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
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'- TGGTGGAACTTTGCATCACCTG -3'
(R):5'- ACGCATTAAAATTGAGCAGCAG -3'

Sequencing Primer
(F):5'- GCAAGGTCTTATTATGAGCTATTTGC -3'
(R):5'- ATGTTGTGGTGAACCCCAAC -3'

Posted On

2022-07-18