Mutagenetix > Incidental Mutation

Incidental Mutation 'R0330:Polr1a'

65161

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

038539-MU

Accession Numbers

Genbank: NM_009088; MGI: 1096397

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0330 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

71909053-71984935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71966416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1212 (C1212S)

Ref Sequence

ENSEMBL: ENSMUSP00000060858 (fasta)

Gene Model

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

AlphaFold

O35134

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055296
AA Change: C1212S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: C1212S

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

noncoding transcript
Transcript: ENSMUST00000181028

Predicted Effect

unknown
Transcript: ENSMUST00000205517
AA Change: C237S

Meta Mutation Damage Score

0.9184

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.0%

Validation Efficiency

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,883,631	I400F	probably benign	Het
4833423E24Rik	T	A	2: 85,518,551	R72S	probably benign	Het
Acaa1b	T	C	9: 119,153,970	N120S	probably damaging	Het
Acvr1c	T	C	2: 58,284,838	T313A	probably damaging	Het
Adamtsl3	A	T	7: 82,521,990	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,667,313	C380S	probably damaging	Het
AI597479	T	G	1: 43,111,117	L129R	probably benign	Het
AI661453	G	A	17: 47,446,646	R76Q	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Anxa7	A	C	14: 20,469,498		probably null	Het
Arhgap12	T	A	18: 6,039,382	D455V	probably damaging	Het
Arhgap22	A	G	14: 33,369,417	R650G	possibly damaging	Het
Arhgef12	A	C	9: 43,020,686	H168Q	probably damaging	Het
Arhgef2	A	G	3: 88,642,501	H592R	probably damaging	Het
BC049715	A	G	6: 136,840,037	T92A	possibly damaging	Het
Bcr	C	T	10: 75,181,634	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,429,777	S185N	probably benign	Het
Calcoco1	A	T	15: 102,715,763	M246K	probably benign	Het
Capn8	T	A	1: 182,630,138	I689N	probably benign	Het
Ccno	T	A	13: 112,989,996	L333Q	probably damaging	Het
Cep57	G	A	9: 13,816,985	R148W	probably damaging	Het
Cftr	T	A	6: 18,226,097	M318K	probably null	Het
Chd3	T	G	11: 69,356,333	D1003A	probably damaging	Het
Ckmt2	T	A	13: 91,863,203	D96V	possibly damaging	Het
Cldn13	A	G	5: 134,915,322	V3A	probably benign	Het
Col17a1	T	C	19: 47,670,432	T413A	probably benign	Het
Cpne5	A	T	17: 29,211,660	L92H	probably damaging	Het
Dnaaf2	C	A	12: 69,197,744	R181L	probably damaging	Het
Erbin	C	A	13: 103,868,865	C114F	probably damaging	Het
Fanca	A	T	8: 123,274,172	C1156*	probably null	Het
Flot2	T	A	11: 78,058,958	I322N	possibly damaging	Het
Fstl5	T	C	3: 76,707,753	V707A	possibly damaging	Het
Gli3	T	G	13: 15,723,558	L741R	probably damaging	Het
Gmip	G	T	8: 69,810,818	S70I	probably benign	Het
Gnptab	T	C	10: 88,440,309	S1153P	probably damaging	Het
Gramd1a	T	C	7: 31,138,254	D360G	possibly damaging	Het
Gtf2i	T	C	5: 134,251,886	E518G	probably damaging	Het
Hrasls5	T	A	19: 7,637,298		probably null	Het
Hsp90b1	T	C	10: 86,694,155	E226G	probably damaging	Het
Impg2	A	G	16: 56,252,264	Y353C	probably damaging	Het
Kank1	A	G	19: 25,424,313	K1095E	probably benign	Het
Kcnh4	C	T	11: 100,757,743	C45Y	probably damaging	Het
Kif13b	A	G	14: 64,803,220	T1590A	probably benign	Het
Lpin3	T	C	2: 160,905,305	V827A	probably benign	Het
Lrp1b	A	T	2: 40,701,761	C73*	probably null	Het
Mcm8	A	G	2: 132,819,994	K83E	possibly damaging	Het
Med12l	A	G	3: 59,227,702	E757G	probably damaging	Het
Mep1a	A	G	17: 43,497,898		probably null	Het
Mtor	T	A	4: 148,484,380	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,509,029	A710T	possibly damaging	Het
Myof	A	C	19: 37,935,878	I1297S	probably damaging	Het
Nacad	A	G	11: 6,600,903	S763P	probably benign	Het
Nbea	A	G	3: 55,642,817	V2730A	probably benign	Het
Nbeal1	A	G	1: 60,268,063	Y1684C	probably damaging	Het
Olfr1015	T	A	2: 85,785,803	C97*	probably null	Het
Olfr123	A	T	17: 37,795,989	M182L	probably benign	Het
Olfr370	A	G	8: 83,541,513	Y123C	probably damaging	Het
Olfr828	A	G	9: 18,815,641	Y218H	probably damaging	Het
Optn	A	T	2: 5,034,255	N352K	possibly damaging	Het
Pcif1	G	T	2: 164,889,444	R466L	probably damaging	Het
Phxr2	T	C	10: 99,126,117		probably benign	Het
Plb1	T	A	5: 32,355,357	F1353Y	probably damaging	Het
Plec	A	G	15: 76,191,418		probably null	Het
Primpol	A	T	8: 46,610,461	N53K	probably damaging	Het
Pygo2	T	A	3: 89,433,154	N286K	possibly damaging	Het
Rttn	G	A	18: 88,986,080		probably null	Het
Serpinb3b	G	T	1: 107,159,703	N25K	probably damaging	Het
Sidt2	A	G	9: 45,954,902	I2T	probably benign	Het
Slc12a3	A	T	8: 94,346,346	N699I	possibly damaging	Het
Slc25a30	G	A	14: 75,762,672	Q285*	probably null	Het
Slc4a9	A	T	18: 36,535,539	H724L	probably damaging	Het
Ssbp2	T	A	13: 91,680,579		probably null	Het
Stac3	C	A	10: 127,507,747		probably null	Het
Stk32a	A	G	18: 43,313,501	K339E	probably benign	Het
Stoml2	A	G	4: 43,030,238		probably null	Het
Syne2	G	T	12: 75,966,953	G2974C	probably benign	Het
Tbc1d16	A	G	11: 119,158,729		probably null	Het
Tfdp2	T	G	9: 96,306,893	F200V	probably damaging	Het
Tie1	C	A	4: 118,484,727	R175L	probably benign	Het
Trappc12	A	G	12: 28,747,260	V91A	probably benign	Het
Trim46	G	T	3: 89,236,513	P536Q	probably damaging	Het
Tshz3	T	A	7: 36,770,033	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,092		probably null	Het
Unc80	T	C	1: 66,674,087	L2788P	possibly damaging	Het
Utp20	T	A	10: 88,817,979	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,610,717	T265K	probably damaging	Het
Vmn2r98	A	C	17: 19,066,347	H369P	probably benign	Het
Vps39	A	T	2: 120,338,787	Y245N	possibly damaging	Het
Vps4a	A	C	8: 107,043,066	I336L	probably benign	Het
Xylb	T	C	9: 119,381,587	S379P	probably damaging	Het
Zbtb37	T	C	1: 161,032,496	T80A	probably benign	Het
Zfhx3	A	G	8: 108,948,957	D2213G	probably damaging	Het
Zfp729a	G	T	13: 67,620,354	H585Q	probably damaging	Het
Zfp804b	A	T	5: 6,771,029	I642N	possibly damaging	Het
Zfp804b	A	T	5: 6,771,994	N356K	possibly damaging	Het

Other mutations in Polr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Polr1a	APN	6	71948486	missense	probably benign	0.32
IGL01834:Polr1a	APN	6	71948462	missense	probably benign
IGL01902:Polr1a	APN	6	71963748	missense	probably damaging	1.00
IGL02101:Polr1a	APN	6	71950802	missense	probably benign	0.00
IGL02325:Polr1a	APN	6	71920657	missense	probably benign	0.38
IGL02398:Polr1a	APN	6	71936556	splice site	probably benign
IGL02528:Polr1a	APN	6	71964717	missense	probably benign
IGL02555:Polr1a	APN	6	71920457	missense	probably damaging	0.98
IGL02613:Polr1a	APN	6	71967320	missense	probably damaging	1.00
IGL02693:Polr1a	APN	6	71963846	splice site	probably benign
IGL02892:Polr1a	APN	6	71931696	missense	possibly damaging	0.70
IGL03059:Polr1a	APN	6	71936512	missense	probably benign
IGL03174:Polr1a	APN	6	71977347	missense	possibly damaging	0.82
D4043:Polr1a	UTSW	6	71941417	missense	possibly damaging	0.92
R0092:Polr1a	UTSW	6	71967455	splice site	probably benign
R0217:Polr1a	UTSW	6	71963703	missense	probably benign	0.19
R0267:Polr1a	UTSW	6	71974139	missense	probably damaging	0.99
R0329:Polr1a	UTSW	6	71966416	missense	possibly damaging	0.96
R0352:Polr1a	UTSW	6	71920763	splice site	probably benign
R0411:Polr1a	UTSW	6	71978421	missense	possibly damaging	0.95
R0446:Polr1a	UTSW	6	71950664	critical splice donor site	probably null
R0846:Polr1a	UTSW	6	71924643	missense	probably damaging	1.00
R1035:Polr1a	UTSW	6	71967916	missense	probably benign
R1294:Polr1a	UTSW	6	71912902	missense	probably damaging	0.99
R1460:Polr1a	UTSW	6	71941384	missense	probably damaging	0.99
R1657:Polr1a	UTSW	6	71941535	missense	probably damaging	1.00
R1846:Polr1a	UTSW	6	71976188	missense	probably damaging	0.98
R1862:Polr1a	UTSW	6	71909203	missense	probably damaging	0.96
R1865:Polr1a	UTSW	6	71966524	missense	probably damaging	1.00
R1903:Polr1a	UTSW	6	71967914	missense	probably benign	0.02
R1937:Polr1a	UTSW	6	71936552	critical splice donor site	probably null
R2063:Polr1a	UTSW	6	71936285	splice site	probably null
R2071:Polr1a	UTSW	6	71976074	missense	possibly damaging	0.64
R2084:Polr1a	UTSW	6	71950809	missense	possibly damaging	0.69
R2377:Polr1a	UTSW	6	71972826	critical splice donor site	probably null
R2410:Polr1a	UTSW	6	71974882	missense	probably benign
R3001:Polr1a	UTSW	6	71965644	missense	probably benign	0.02
R3001:Polr1a	UTSW	6	71913016	missense	probably benign	0.01
R3002:Polr1a	UTSW	6	71913016	missense	probably benign	0.01
R3002:Polr1a	UTSW	6	71965644	missense	probably benign	0.02
R3924:Polr1a	UTSW	6	71929450	missense	probably benign	0.00
R4105:Polr1a	UTSW	6	71976191	missense	probably damaging	0.98
R4125:Polr1a	UTSW	6	71965706	missense	probably benign	0.00
R4271:Polr1a	UTSW	6	71953022	missense	probably benign	0.02
R4440:Polr1a	UTSW	6	71950848	missense	probably damaging	0.98
R4667:Polr1a	UTSW	6	71917821	missense	probably benign	0.30
R4769:Polr1a	UTSW	6	71950868	missense	probably benign	0.01
R4801:Polr1a	UTSW	6	71976070	missense	probably benign	0.00
R4802:Polr1a	UTSW	6	71976070	missense	probably benign	0.00
R4828:Polr1a	UTSW	6	71966401	missense	possibly damaging	0.93
R4911:Polr1a	UTSW	6	71909229	missense	possibly damaging	0.67
R5071:Polr1a	UTSW	6	71931709	missense	possibly damaging	0.71
R5165:Polr1a	UTSW	6	71967925	missense	probably damaging	1.00
R5223:Polr1a	UTSW	6	71967907	missense	possibly damaging	0.73
R5239:Polr1a	UTSW	6	71913037	missense	probably damaging	1.00
R5546:Polr1a	UTSW	6	71929366	missense	possibly damaging	0.64
R5599:Polr1a	UTSW	6	71967362	missense	possibly damaging	0.95
R5696:Polr1a	UTSW	6	71929426	missense	probably benign	0.05
R5850:Polr1a	UTSW	6	71926683	missense	probably benign	0.00
R6274:Polr1a	UTSW	6	71954890	splice site	probably null
R6526:Polr1a	UTSW	6	71929443	missense	possibly damaging	0.89
R6578:Polr1a	UTSW	6	71976041	missense	possibly damaging	0.93
R6660:Polr1a	UTSW	6	71967374	missense	probably damaging	0.98
R6892:Polr1a	UTSW	6	71964712	missense	possibly damaging	0.72
R7274:Polr1a	UTSW	6	71920516	nonsense	probably null
R7291:Polr1a	UTSW	6	71941456	missense	probably benign	0.02
R7311:Polr1a	UTSW	6	71950879	missense	possibly damaging	0.53
R7431:Polr1a	UTSW	6	71926659	missense	probably benign	0.14
R7479:Polr1a	UTSW	6	71936297	missense	probably damaging	1.00
R7607:Polr1a	UTSW	6	71913021	missense	probably benign
R7739:Polr1a	UTSW	6	71954835	missense	possibly damaging	0.94
R7746:Polr1a	UTSW	6	71941512	missense	probably damaging	1.00
R7764:Polr1a	UTSW	6	71953070	missense	probably damaging	1.00
R7835:Polr1a	UTSW	6	71915142	missense	probably benign	0.02
R8029:Polr1a	UTSW	6	71912956	nonsense	probably null
R8057:Polr1a	UTSW	6	71931660	missense	possibly damaging	0.95
R8144:Polr1a	UTSW	6	71950616	missense	probably benign
R8170:Polr1a	UTSW	6	71920749	missense	probably benign
R8320:Polr1a	UTSW	6	71941384	missense	probably damaging	0.99
R8328:Polr1a	UTSW	6	71920734	missense	probably benign
R8331:Polr1a	UTSW	6	71976179	missense	probably damaging	1.00
R8362:Polr1a	UTSW	6	71964667	missense	probably benign	0.00
R8511:Polr1a	UTSW	6	71920520	missense	probably benign	0.01
R8709:Polr1a	UTSW	6	71974848	missense	probably benign
R8745:Polr1a	UTSW	6	71954771	missense	probably damaging	1.00
R8784:Polr1a	UTSW	6	71950628	missense	probably benign
R9055:Polr1a	UTSW	6	71915069	missense	possibly damaging	0.46
R9088:Polr1a	UTSW	6	71931783	missense	probably benign	0.26
R9211:Polr1a	UTSW	6	71966537	missense	probably damaging	1.00
R9228:Polr1a	UTSW	6	71954771	missense	probably damaging	1.00
R9240:Polr1a	UTSW	6	71963677	nonsense	probably null
R9267:Polr1a	UTSW	6	71965558	missense	probably benign
R9302:Polr1a	UTSW	6	71924699	critical splice donor site	probably null
R9744:Polr1a	UTSW	6	71929388	missense	probably benign	0.05

Predicted Primers

Posted On

2013-08-08