Mutagenetix > Incidental Mutation

Incidental Mutation 'R4911:Polr1a'

379521

Institutional Source

Beutler Lab

Gene Symbol

Polr1a

Ensembl Gene

ENSMUSG00000049553

Gene Name

polymerase (RNA) I polypeptide A

Synonyms

RPA194, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4

MMRRC Submission

042513-MU

Accession Numbers

Genbank: NM_009088; MGI: 1096397

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4911 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

71909053-71984935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71909229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 23 (E23K)

Ref Sequence

ENSEMBL: ENSMUSP00000146166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055296] [ENSMUST00000082094] [ENSMUST00000206556] [ENSMUST00000206879]

AlphaFold

O35134

Predicted Effect

probably benign
Transcript: ENSMUST00000055296
AA Change: E23K

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: E23K

Domain	Start	End	E-Value	Type
RPOLA_N	302	649	8.97e-137	SMART
Pfam:RNA_pol_Rpb1_4	846	958	1.3e-26	PFAM
Pfam:RNA_pol_Rpb1_5	965	1669	7e-103	PFAM
low complexity region	1698	1708	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000082094

SMART Domains

Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
low complexity region	216	227	N/A	INTRINSIC
Pfam:PPR_2	253	300	1.4e-10	PFAM
Pfam:PPR_3	331	366	2.1e-4	PFAM
low complexity region	671	684	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205842

Predicted Effect

probably benign
Transcript: ENSMUST00000206284

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206556
AA Change: E23K

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206753

Predicted Effect

probably benign
Transcript: ENSMUST00000206879

Meta Mutation Damage Score

0.1645

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (149/153)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]

Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock

Total: 132 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,170,939		probably null	Het
4430402I18Rik	G	A	19: 28,897,503		probably benign	Het
Aacs	A	G	5: 125,506,160	D260G	possibly damaging	Het
Aadacl4	T	A	4: 144,613,792	L29H	probably damaging	Het
Abca7	T	C	10: 80,012,188		probably null	Het
Adgre1	G	A	17: 57,447,832	M643I	possibly damaging	Het
Adgrl2	A	T	3: 148,890,463	M79K	probably damaging	Het
Ankrd55	T	A	13: 112,323,039		probably null	Het
Arhgap21	A	G	2: 20,858,989	I1257T	probably damaging	Het
Arhgap26	T	A	18: 38,993,637		probably benign	Het
Arhgap39	A	G	15: 76,737,805	S199P	probably damaging	Het
Arhgef5	A	G	6: 43,272,828	D171G	probably benign	Het
Atp7a	T	C	X: 106,120,374	V1305A	probably damaging	Het
B3gnt3	T	A	8: 71,692,934	R263S	probably benign	Het
B9d1	A	C	11: 61,507,671	D59A	probably benign	Het
Bag2	A	T	1: 33,748,276	I55N	probably benign	Het
Bank1	T	C	3: 136,284,243	I29V	probably benign	Het
Bbs2	A	T	8: 94,089,115	D174E	probably damaging	Het
Bmp8b	T	C	4: 123,115,237	W203R	probably damaging	Het
Cacnb2	A	T	2: 14,981,340	E359D	possibly damaging	Het
Camp	T	A	9: 109,847,583		probably null	Het
Casp4	C	T	9: 5,328,580		probably benign	Het
Ccdc110	A	T	8: 45,942,907	T612S	probably benign	Het
Cd209b	T	A	8: 3,926,640		probably null	Het
Cemip	T	C	7: 83,983,253	D367G	probably damaging	Het
Cers5	T	A	15: 99,747,079	N131I	probably damaging	Het
Chd5	T	G	4: 152,360,672	V370G	probably damaging	Het
Cipc	C	A	12: 86,952,757	Q20K	probably benign	Het
Cnr2	T	A	4: 135,917,201	F197I	possibly damaging	Het
Col7a1	G	A	9: 108,975,219	G2233S	unknown	Het
Dcdc2b	T	A	4: 129,611,267	I125F	possibly damaging	Het
Ddi2	A	G	4: 141,684,402	S400P	probably benign	Het
Ddx31	C	A	2: 28,904,684	T664K	probably benign	Het
Dhx30	C	A	9: 110,100,924	G35C	probably damaging	Het
Dmxl2	G	A	9: 54,411,653	T1576I	probably damaging	Het
Dnah1	T	C	14: 31,295,323	Y1510C	probably damaging	Het
Dnah2	C	T	11: 69,499,104		probably null	Het
Dock10	C	A	1: 80,606,236	G163C	probably damaging	Het
Edar	T	C	10: 58,621,324	N144S	probably benign	Het
Elavl2	T	A	4: 91,308,678	E54D	possibly damaging	Het
Enam	T	G	5: 88,502,314	S561A	probably benign	Het
Ercc5	C	A	1: 44,166,871	H315N	possibly damaging	Het
Esp31	A	G	17: 38,644,661	E65G	possibly damaging	Het
Faap100	T	C	11: 120,372,113	I806M	probably benign	Het
Fam159a	T	C	4: 108,377,461	T70A	probably benign	Het
Fbxw21	T	C	9: 109,145,663	Y263C	probably damaging	Het
Fsip2	T	A	2: 82,981,493	S2719T	possibly damaging	Het
Fv1	T	C	4: 147,869,418	V147A	probably benign	Het
Gal	T	C	19: 3,411,590	E65G	probably benign	Het
Galnt6	T	C	15: 100,716,178	T81A	probably benign	Het
Gcc2	A	G	10: 58,270,439	E399G	probably damaging	Het
Gfi1b	A	T	2: 28,610,102	C306S	probably damaging	Het
Gm10654	T	A	8: 70,931,852		noncoding transcript	Het
Gm20388	A	G	8: 123,080,604		probably benign	Het
Gm4788	T	G	1: 139,774,563	D61A	probably damaging	Het
Gm4953	T	A	1: 159,168,359		noncoding transcript	Het
Gorasp2	T	C	2: 70,688,339		probably benign	Het
Gse1	T	C	8: 120,568,466		probably benign	Het
H2-D1	A	G	17: 35,265,997	E278G	probably damaging	Het
Herc2	T	C	7: 56,227,892	L4569P	probably damaging	Het
Hgs	T	A	11: 120,477,202	S246T	probably damaging	Het
Hs2st1	T	C	3: 144,465,082	T110A	probably benign	Het
Hydin	A	G	8: 110,595,438	Y4574C	probably benign	Het
Ighv1-23	C	A	12: 114,764,752	V17F	possibly damaging	Het
Ighv8-14	A	T	12: 115,808,565		noncoding transcript	Het
Igsf21	C	T	4: 140,034,623	R248H	probably benign	Het
Il23r	T	C	6: 67,423,561	N595S	probably benign	Het
Il5ra	G	T	6: 106,715,668	P372Q	probably damaging	Het
Iltifb	T	C	10: 118,294,989	M1V	probably null	Het
Inppl1	A	G	7: 101,832,309	V222A	possibly damaging	Het
Ints10	T	C	8: 68,827,312	V697A	probably damaging	Het
Isg15	T	A	4: 156,199,760	T104S	probably benign	Het
Kif11	A	G	19: 37,417,937	T983A	probably benign	Het
Kif3b	A	T	2: 153,317,292	K338*	probably null	Het
Kpna2	T	A	11: 106,990,719	I362F	probably damaging	Het
Lama2	G	A	10: 27,138,927	T1595M	probably damaging	Het
Lrrc36	A	G	8: 105,426,935	T126A	probably benign	Het
Lrrk1	T	A	7: 66,295,454	D604V	probably damaging	Het
Map7d1	T	C	4: 126,236,691	K409E	probably damaging	Het
Mast2	T	C	4: 116,353,057	T110A	probably benign	Het
Micall2	G	A	5: 139,716,825	T221M	probably damaging	Het
Morc2b	T	A	17: 33,137,377	N474Y	probably damaging	Het
Myo1e	T	A	9: 70,343,096	M528K	probably benign	Het
Nlrp1c-ps	G	T	11: 71,260,369		noncoding transcript	Het
Nostrin	T	C	2: 69,161,142	S160P	possibly damaging	Het
Nup133	T	C	8: 123,927,131	R530G	possibly damaging	Het
Olfr452	T	A	6: 42,790,204	L55H	probably damaging	Het
Olfr488	T	C	7: 108,256,037	I34V	possibly damaging	Het
Olfr894	A	G	9: 38,219,096	E91G	probably damaging	Het
Pabpc4l	A	T	3: 46,446,162	M349K	possibly damaging	Het
Pah	G	A	10: 87,570,267	G256S	probably benign	Het
Park2	G	T	17: 10,840,472		probably benign	Het
Pigk	T	C	3: 152,740,204	S151P	probably damaging	Het
Plcd4	A	C	1: 74,564,413	T658P	possibly damaging	Het
Pld4	A	T	12: 112,764,517	S178C	probably benign	Het
Pomt1	T	C	2: 32,241,679	S127P	probably damaging	Het
Pon2	A	G	6: 5,269,029	V215A	possibly damaging	Het
Ppp3cb	A	T	14: 20,509,440	M416K	probably damaging	Het
Prdm1	A	T	10: 44,442,052	N273K	possibly damaging	Het
Prg4	T	A	1: 150,455,823		probably benign	Het
Ptch1	G	A	13: 63,523,052	T888M	probably damaging	Het
Pusl1	T	G	4: 155,891,442		probably benign	Het
Rapgef6	A	T	11: 54,622,317	E122D	probably damaging	Het
Rif1	C	T	2: 52,110,518	T1328I	probably damaging	Het
Rngtt	T	G	4: 33,500,292		probably null	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Samd1	A	G	8: 83,998,989		probably benign	Het
Scamp5	A	T	9: 57,451,452	F14I	probably damaging	Het
Shank3	C	T	15: 89,504,344	R380C	probably damaging	Het
Slc1a4	C	A	11: 20,332,166	A103S	probably damaging	Het
Slc39a14	A	G	14: 70,309,922	V325A	probably benign	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Spta1	T	A	1: 174,185,647	S375T	probably damaging	Het
Sval1	A	G	6: 41,955,444	N76S	probably benign	Het
Synpo	C	T	18: 60,629,864		probably benign	Het
Sytl5	C	T	X: 9,915,602	P181L	possibly damaging	Het
Tacc1	A	G	8: 25,182,606	M111T	possibly damaging	Het
Tec	T	C	5: 72,756,351	D613G	probably benign	Het
Tecpr2	C	T	12: 110,931,487	T391I	possibly damaging	Het
Thop1	G	A	10: 81,073,291	G52D	probably damaging	Het
Tmco5	T	A	2: 116,892,208	V270D	possibly damaging	Het
Ttn	C	T	2: 76,726,629	E28265K	possibly damaging	Het
Tuft1	T	C	3: 94,635,443	D72G	probably damaging	Het
Tyrp1	C	T	4: 80,850,907		probably benign	Het
Usp9y	T	C	Y: 1,308,041	D2265G	probably damaging	Het
Vmn2r104	G	A	17: 20,030,026	A661V	probably benign	Het
Vwa5a	A	T	9: 38,737,972	N672I	probably benign	Het
Wdr95	A	T	5: 149,611,692	K772*	probably null	Het
Ybx1	T	C	4: 119,282,813	T106A	probably benign	Het
Ypel3	T	C	7: 126,777,789	S14P	probably benign	Het
Zfp518a	T	A	19: 40,915,528	S1300R	probably benign	Het
Zscan5b	A	T	7: 6,239,190	*469Y	probably null	Het

Other mutations in Polr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Polr1a	APN	6	71,948,486 (GRCm38)	missense	probably benign	0.32
IGL01834:Polr1a	APN	6	71,948,462 (GRCm38)	missense	probably benign
IGL01902:Polr1a	APN	6	71,963,748 (GRCm38)	missense	probably damaging	1.00
IGL02101:Polr1a	APN	6	71,950,802 (GRCm38)	missense	probably benign	0.00
IGL02325:Polr1a	APN	6	71,920,657 (GRCm38)	missense	probably benign	0.38
IGL02398:Polr1a	APN	6	71,936,556 (GRCm38)	splice site	probably benign
IGL02528:Polr1a	APN	6	71,964,717 (GRCm38)	missense	probably benign
IGL02555:Polr1a	APN	6	71,920,457 (GRCm38)	missense	probably damaging	0.98
IGL02613:Polr1a	APN	6	71,967,320 (GRCm38)	missense	probably damaging	1.00
IGL02693:Polr1a	APN	6	71,963,846 (GRCm38)	splice site	probably benign
IGL02892:Polr1a	APN	6	71,931,696 (GRCm38)	missense	possibly damaging	0.70
IGL03059:Polr1a	APN	6	71,936,512 (GRCm38)	missense	probably benign
IGL03174:Polr1a	APN	6	71,977,347 (GRCm38)	missense	possibly damaging	0.82
D4043:Polr1a	UTSW	6	71,941,417 (GRCm38)	missense	possibly damaging	0.92
R0092:Polr1a	UTSW	6	71,967,455 (GRCm38)	splice site	probably benign
R0217:Polr1a	UTSW	6	71,963,703 (GRCm38)	missense	probably benign	0.19
R0267:Polr1a	UTSW	6	71,974,139 (GRCm38)	missense	probably damaging	0.99
R0329:Polr1a	UTSW	6	71,966,416 (GRCm38)	missense	possibly damaging	0.96
R0330:Polr1a	UTSW	6	71,966,416 (GRCm38)	missense	possibly damaging	0.96
R0352:Polr1a	UTSW	6	71,920,763 (GRCm38)	splice site	probably benign
R0411:Polr1a	UTSW	6	71,978,421 (GRCm38)	missense	possibly damaging	0.95
R0446:Polr1a	UTSW	6	71,950,664 (GRCm38)	critical splice donor site	probably null
R0846:Polr1a	UTSW	6	71,924,643 (GRCm38)	missense	probably damaging	1.00
R1035:Polr1a	UTSW	6	71,967,916 (GRCm38)	missense	probably benign
R1294:Polr1a	UTSW	6	71,912,902 (GRCm38)	missense	probably damaging	0.99
R1460:Polr1a	UTSW	6	71,941,384 (GRCm38)	missense	probably damaging	0.99
R1657:Polr1a	UTSW	6	71,941,535 (GRCm38)	missense	probably damaging	1.00
R1846:Polr1a	UTSW	6	71,976,188 (GRCm38)	missense	probably damaging	0.98
R1862:Polr1a	UTSW	6	71,909,203 (GRCm38)	missense	probably damaging	0.96
R1865:Polr1a	UTSW	6	71,966,524 (GRCm38)	missense	probably damaging	1.00
R1903:Polr1a	UTSW	6	71,967,914 (GRCm38)	missense	probably benign	0.02
R1937:Polr1a	UTSW	6	71,936,552 (GRCm38)	critical splice donor site	probably null
R2063:Polr1a	UTSW	6	71,936,285 (GRCm38)	splice site	probably null
R2071:Polr1a	UTSW	6	71,976,074 (GRCm38)	missense	possibly damaging	0.64
R2084:Polr1a	UTSW	6	71,950,809 (GRCm38)	missense	possibly damaging	0.69
R2377:Polr1a	UTSW	6	71,972,826 (GRCm38)	critical splice donor site	probably null
R2410:Polr1a	UTSW	6	71,974,882 (GRCm38)	missense	probably benign
R3001:Polr1a	UTSW	6	71,913,016 (GRCm38)	missense	probably benign	0.01
R3001:Polr1a	UTSW	6	71,965,644 (GRCm38)	missense	probably benign	0.02
R3002:Polr1a	UTSW	6	71,965,644 (GRCm38)	missense	probably benign	0.02
R3002:Polr1a	UTSW	6	71,913,016 (GRCm38)	missense	probably benign	0.01
R3924:Polr1a	UTSW	6	71,929,450 (GRCm38)	missense	probably benign	0.00
R4105:Polr1a	UTSW	6	71,976,191 (GRCm38)	missense	probably damaging	0.98
R4125:Polr1a	UTSW	6	71,965,706 (GRCm38)	missense	probably benign	0.00
R4271:Polr1a	UTSW	6	71,953,022 (GRCm38)	missense	probably benign	0.02
R4440:Polr1a	UTSW	6	71,950,848 (GRCm38)	missense	probably damaging	0.98
R4667:Polr1a	UTSW	6	71,917,821 (GRCm38)	missense	probably benign	0.30
R4769:Polr1a	UTSW	6	71,950,868 (GRCm38)	missense	probably benign	0.01
R4801:Polr1a	UTSW	6	71,976,070 (GRCm38)	missense	probably benign	0.00
R4802:Polr1a	UTSW	6	71,976,070 (GRCm38)	missense	probably benign	0.00
R4828:Polr1a	UTSW	6	71,966,401 (GRCm38)	missense	possibly damaging	0.93
R5071:Polr1a	UTSW	6	71,931,709 (GRCm38)	missense	possibly damaging	0.71
R5165:Polr1a	UTSW	6	71,967,925 (GRCm38)	missense	probably damaging	1.00
R5223:Polr1a	UTSW	6	71,967,907 (GRCm38)	missense	possibly damaging	0.73
R5239:Polr1a	UTSW	6	71,913,037 (GRCm38)	missense	probably damaging	1.00
R5546:Polr1a	UTSW	6	71,929,366 (GRCm38)	missense	possibly damaging	0.64
R5599:Polr1a	UTSW	6	71,967,362 (GRCm38)	missense	possibly damaging	0.95
R5696:Polr1a	UTSW	6	71,929,426 (GRCm38)	missense	probably benign	0.05
R5850:Polr1a	UTSW	6	71,926,683 (GRCm38)	missense	probably benign	0.00
R6274:Polr1a	UTSW	6	71,954,890 (GRCm38)	splice site	probably null
R6526:Polr1a	UTSW	6	71,929,443 (GRCm38)	missense	possibly damaging	0.89
R6578:Polr1a	UTSW	6	71,976,041 (GRCm38)	missense	possibly damaging	0.93
R6660:Polr1a	UTSW	6	71,967,374 (GRCm38)	missense	probably damaging	0.98
R6892:Polr1a	UTSW	6	71,964,712 (GRCm38)	missense	possibly damaging	0.72
R7274:Polr1a	UTSW	6	71,920,516 (GRCm38)	nonsense	probably null
R7291:Polr1a	UTSW	6	71,941,456 (GRCm38)	missense	probably benign	0.02
R7311:Polr1a	UTSW	6	71,950,879 (GRCm38)	missense	possibly damaging	0.53
R7431:Polr1a	UTSW	6	71,926,659 (GRCm38)	missense	probably benign	0.14
R7479:Polr1a	UTSW	6	71,936,297 (GRCm38)	missense	probably damaging	1.00
R7607:Polr1a	UTSW	6	71,913,021 (GRCm38)	missense	probably benign
R7739:Polr1a	UTSW	6	71,954,835 (GRCm38)	missense	possibly damaging	0.94
R7746:Polr1a	UTSW	6	71,941,512 (GRCm38)	missense	probably damaging	1.00
R7764:Polr1a	UTSW	6	71,953,070 (GRCm38)	missense	probably damaging	1.00
R7835:Polr1a	UTSW	6	71,915,142 (GRCm38)	missense	probably benign	0.02
R8029:Polr1a	UTSW	6	71,912,956 (GRCm38)	nonsense	probably null
R8057:Polr1a	UTSW	6	71,931,660 (GRCm38)	missense	possibly damaging	0.95
R8144:Polr1a	UTSW	6	71,950,616 (GRCm38)	missense	probably benign
R8170:Polr1a	UTSW	6	71,920,749 (GRCm38)	missense	probably benign
R8320:Polr1a	UTSW	6	71,941,384 (GRCm38)	missense	probably damaging	0.99
R8328:Polr1a	UTSW	6	71,920,734 (GRCm38)	missense	probably benign
R8331:Polr1a	UTSW	6	71,976,179 (GRCm38)	missense	probably damaging	1.00
R8362:Polr1a	UTSW	6	71,964,667 (GRCm38)	missense	probably benign	0.00
R8511:Polr1a	UTSW	6	71,920,520 (GRCm38)	missense	probably benign	0.01
R8709:Polr1a	UTSW	6	71,974,848 (GRCm38)	missense	probably benign
R8745:Polr1a	UTSW	6	71,954,771 (GRCm38)	missense	probably damaging	1.00
R8784:Polr1a	UTSW	6	71,950,628 (GRCm38)	missense	probably benign
R9055:Polr1a	UTSW	6	71,915,069 (GRCm38)	missense	possibly damaging	0.46
R9088:Polr1a	UTSW	6	71,931,783 (GRCm38)	missense	probably benign	0.26
R9211:Polr1a	UTSW	6	71,966,537 (GRCm38)	missense	probably damaging	1.00
R9228:Polr1a	UTSW	6	71,954,771 (GRCm38)	missense	probably damaging	1.00
R9240:Polr1a	UTSW	6	71,963,677 (GRCm38)	nonsense	probably null
R9267:Polr1a	UTSW	6	71,965,558 (GRCm38)	missense	probably benign
R9302:Polr1a	UTSW	6	71,924,699 (GRCm38)	critical splice donor site	probably null
R9744:Polr1a	UTSW	6	71,929,388 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTCGTCCAAGCCAATTTGCC -3'
(R):5'- ATCATCGCTTGGACCAGAGG -3'

Sequencing Primer
(F):5'- AATTTGCCAAGCCGCGGTTC -3'
(R):5'- GCAGCAAGCGCATTCCTTC -3'

Posted On

2016-04-15