Mutagenetix > Incidental Mutation

Incidental Mutation 'R9664:Polq'

735666

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 #

R9664 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37011786-37095417 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37027814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 261 (V261A)

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: V261A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059757
Gene: ENSMUSG00000034206
AA Change: V261A

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	G	A	15: 76,594,183	D277N	probably damaging	Het
Adgrv1	A	T	13: 81,522,169	S2353T	probably benign	Het
Adgrv1	A	T	13: 81,595,252	N43K	probably damaging	Het
Adnp2	A	G	18: 80,142,722	I12T	probably damaging	Het
Ahnak2	A	G	12: 112,774,929	L903P	probably damaging	Het
Ankhd1	T	G	18: 36,647,825	S1977A	probably benign	Het
Ap1m2	T	C	9: 21,305,687	M118V	probably benign	Het
Ap3d1	T	C	10: 80,712,805	K846R	possibly damaging	Het
Aqr	C	A	2: 114,140,915	E480*	probably null	Het
Arl6	G	T	16: 59,613,836	Q182K	probably benign	Het
Arpc2	A	G	1: 74,254,875	K106E	probably benign	Het
Atp8a1	A	C	5: 67,732,181	F599V		Het
B3galt5	A	T	16: 96,316,003	I279F	probably damaging	Het
Calcoco2	G	T	11: 96,100,278	A211D	unknown	Het
Ccdc33	T	C	9: 58,086,572	E342G	possibly damaging	Het
Ccdc88a	C	A	11: 29,455,484	Q386K	probably benign	Het
Cdh20	A	G	1: 104,934,340	K82E	probably benign	Het
Clca3a2	A	T	3: 144,797,814	Y792N	probably damaging	Het
Col6a6	T	C	9: 105,781,055	I653V	probably benign	Het
Col7a1	C	T	9: 108,983,581	R2826W	unknown	Het
D6Ertd527e	A	G	6: 87,111,926	N357S	unknown	Het
Dmgdh	T	A	13: 93,720,615	N742K	probably benign	Het
Dnajc6	A	G	4: 101,618,624	N565D	probably benign	Het
Doc2g	A	G	19: 4,004,390	Y155C	probably damaging	Het
Dot1l	G	A	10: 80,788,527	G943D	probably damaging	Het
Dst	T	C	1: 34,181,655	V2180A	probably benign	Het
Eftud2	A	C	11: 102,868,596	Y160*	probably null	Het
Ehd1	A	T	19: 6,281,232	Q140L	probably benign	Het
Etv3	T	C	3: 87,535,865	V252A	probably benign	Het
F11	A	T	8: 45,241,529	C598*	probably null	Het
Fancm	T	A	12: 65,090,984	N316K	probably benign	Het
Flnc	T	C	6: 29,457,215	V2372A	probably damaging	Het
Fry	A	G	5: 150,359,023	R338G	probably damaging	Het
Gfra3	T	C	18: 34,704,538	T136A	probably benign	Het
Golga7b	T	C	19: 42,267,023	V113A	possibly damaging	Het
Gpn3	G	T	5: 122,382,243	V102L		Het
Herc2	A	G	7: 56,170,590	N2859S	possibly damaging	Het
Hpd	A	T	5: 123,180,885		probably null	Het
Hspg2	C	T	4: 137,539,576	T1964I	probably benign	Het
Hydin	A	T	8: 110,494,333	T1454S	probably benign	Het
Irgm2	A	T	11: 58,220,046	T188S	possibly damaging	Het
Jak3	A	G	8: 71,678,722	D77G	probably damaging	Het
Kcnj4	G	T	15: 79,485,019	F253L	possibly damaging	Het
Kidins220	T	A	12: 25,056,896	D1358E	probably benign	Het
Klf1	C	A	8: 84,903,432	C295*	probably null	Het
Kmt2a	C	T	9: 44,848,805	W582*	probably null	Het
Lrig2	A	G	3: 104,464,240	C716R	probably damaging	Het
Lrp1b	C	T	2: 40,874,992	D2941N		Het
Lrpprc	A	T	17: 84,712,834	V1141E	probably damaging	Het
Mrgprx1	C	T	7: 48,021,525	G158D	probably benign	Het
Muc5b	C	A	7: 141,855,542	A1121D	unknown	Het
Nf1	G	T	11: 79,443,907	V852L	probably damaging	Het
Nlrp5	A	G	7: 23,418,861	E670G	probably benign	Het
Notch4	A	G	17: 34,565,627	T101A	probably benign	Het
Olfr1487	G	A	19: 13,620,001	V237I	probably benign	Het
Olfr517	T	C	7: 108,868,356	Y266C	probably damaging	Het
Olfr721-ps1	T	A	14: 14,407,963	I245K	probably benign	Het
P2rx2	T	C	5: 110,340,306	T461A	probably benign	Het
Pank1	G	A	19: 34,821,794	T419I	probably damaging	Het
Patz1	T	C	11: 3,294,562	V481A	unknown	Het
Pdlim5	A	G	3: 142,312,297	L179P	probably benign	Het
Pik3ap1	A	T	19: 41,308,528	V461D	probably damaging	Het
Ppm1a	G	A	12: 72,790,677	V333M	possibly damaging	Het
R3hcc1l	T	C	19: 42,564,232	L556P	probably benign	Het
Rabggta	G	A	14: 55,718,918	Q365*	probably null	Het
Ranbp9	T	C	13: 43,425,043	T185A	probably benign	Het
Rd3l	T	G	12: 111,979,479	N189H	probably damaging	Het
Rnf17	A	G	14: 56,485,179	T1066A	probably damaging	Het
Rnf213	G	A	11: 119,441,968	A2669T		Het
Ros1	T	A	10: 52,120,835	H1268L	probably benign	Het
Rps6ka4	G	T	19: 6,831,986	S433R	possibly damaging	Het
Ryr1	A	G	7: 29,059,667	L3362P	probably damaging	Het
Setd1b	A	T	5: 123,159,983	T1361S	unknown	Het
Setd2	T	C	9: 110,548,502	S462P	probably damaging	Het
Sgsm3	A	T	15: 81,006,734	Q132L	probably benign	Het
Slx1b	C	A	7: 126,692,526	R122L	probably damaging	Het
Sorbs2	A	T	8: 45,823,751	T1167S	probably benign	Het
Spdya	A	C	17: 71,562,518	T103P	probably damaging	Het
Stfa2	A	G	16: 36,408,276	S20P	probably benign	Het
Sulf1	A	G	1: 12,820,802	T400A	probably benign	Het
Tardbp	A	T	4: 148,625,294	D23E	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tgm1	C	T	14: 55,710,984	D237N	probably benign	Het
Tgs1	T	A	4: 3,585,964	N280K	probably benign	Het
Tmem198	A	T	1: 75,482,628	I76F	possibly damaging	Het
Trpv2	A	T	11: 62,584,559	Y266F	probably damaging	Het
Ttn	C	T	2: 76,739,501	G27016E	probably damaging	Het
Ttn	T	C	2: 76,951,480	E1074G	unknown	Het
Unc5b	A	T	10: 60,777,543	W305R	probably damaging	Het
Usp38	A	G	8: 81,014,535		probably benign	Het
Vmn1r79	A	G	7: 12,176,655	T155A	probably benign	Het
Vwce	G	A	19: 10,638,117	V121I	probably benign	Het
Wdr63	T	C	3: 146,042,839	N840S	probably benign	Het
Wdr91	A	T	6: 34,889,026	D530E	probably benign	Het
Wnt4	A	G	4: 137,296,618	T299A	probably benign	Het
Yeats2	T	A	16: 20,228,741	Y1284*	probably null	Het
Zfp113	A	T	5: 138,150,626	Y85*	probably null	Het
Zfp184	A	G	13: 21,959,926	T601A	probably benign	Het
Zfp655	A	G	5: 145,243,632	E100G	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
R9489:Polq	UTSW	16	37022811	missense	probably benign	0.00
R9605:Polq	UTSW	16	37022811	missense	probably benign	0.00
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'- ATTCCTGTAGTCTCTCCGTAATATTTA -3'
(R):5'- ACTTGGAGCAGGGGTTGAAA -3'

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

Posted On

2022-11-14