Mutagenetix > Incidental Mutation

Incidental Mutation 'R1937:Polr1a'

213535

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

039955-MU

Accession Numbers

Genbank: NM_009088; MGI: 1096397

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71909053-71984935 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 71936552 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060858 (fasta)

Gene Model

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

AlphaFold

O35134

Predicted Effect

probably null
Transcript: ENSMUST00000055296

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553

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 null
Transcript: ENSMUST00000055296

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553

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: ENSMUST00000205942

Predicted Effect

probably benign
Transcript: ENSMUST00000206556

Predicted Effect

probably benign
Transcript: ENSMUST00000206556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206823

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	A	T	11: 101,987,163	H17L	probably damaging	Het
5730480H06Rik	C	A	5: 48,374,435	T35K	probably benign	Het
Abhd14a	A	G	9: 106,440,247		probably benign	Het
Abhd8	A	G	8: 71,461,862	F41L	possibly damaging	Het
Ace2	A	T	X: 164,156,528	M123L	possibly damaging	Het
Actr5	T	C	2: 158,636,029	Y440H	possibly damaging	Het
Akr1c6	T	A	13: 4,446,384	N81K	probably benign	Het
Aqp11	T	A	7: 97,737,518	N157I	possibly damaging	Het
Arhgap10	T	C	8: 77,344,653	E568G	probably damaging	Het
Asb7	T	A	7: 66,679,253	Q13L	probably benign	Het
Atf7ip	C	A	6: 136,560,780	A345E	probably benign	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Bpifb4	A	T	2: 153,944,076	I259F	probably damaging	Het
Cand1	A	T	10: 119,203,020	D1218E	probably damaging	Het
Capg	A	G	6: 72,558,253		probably null	Het
Cep290	C	T	10: 100,497,953	T289M	possibly damaging	Het
Cfap69	T	C	5: 5,593,818	Y548C	probably damaging	Het
Clock	A	G	5: 76,229,493	L652P	probably damaging	Het
Col3a1	C	T	1: 45,334,293		probably benign	Het
Coro7	T	C	16: 4,628,732	E843G	probably benign	Het
Crebrf	T	C	17: 26,742,468	S188P	probably damaging	Het
Cul1	T	C	6: 47,508,355	F307L	probably benign	Het
Cyb561d2	G	A	9: 107,540,316	R79W	probably damaging	Het
Cyp3a59	T	C	5: 146,094,377	S117P	possibly damaging	Het
Ddias	A	G	7: 92,858,622	I695T	probably benign	Het
Dhx29	G	A	13: 112,965,330	G1311D	probably benign	Het
Diexf	A	T	1: 193,122,093	D200E	probably damaging	Het
Dync2h1	A	G	9: 7,139,159		probably null	Het
Ece2	T	A	16: 20,617,866	V146E	probably damaging	Het
Eml2	A	G	7: 19,203,964	K586E	possibly damaging	Het
Eps8l3	A	G	3: 107,884,392	E316G	probably benign	Het
Fam135b	A	T	15: 71,622,014	L22H	probably damaging	Het
Fam166b	T	A	4: 43,427,586	K220N	probably damaging	Het
Focad	T	A	4: 88,401,081	M1K	probably null	Het
Fryl	A	G	5: 73,133,367	S65P	probably damaging	Het
Gm14190	C	T	11: 99,690,730	C4Y	unknown	Het
Gm8909	T	A	17: 36,168,007	T117S	probably damaging	Het
Ift74	T	A	4: 94,662,646	M345K	probably benign	Het
Ispd	G	A	12: 36,390,368	V92I	probably benign	Het
Jag1	C	G	2: 137,083,473	V1070L	possibly damaging	Het
Kcng1	T	C	2: 168,263,021	T302A	probably benign	Het
Kif20b	T	C	19: 34,952,878	V1221A	possibly damaging	Het
Kif23	A	T	9: 61,946,610		probably null	Het
Lpxn	T	G	19: 12,824,910	S200A	probably benign	Het
Meiob	A	G	17: 24,818,331	H61R	probably benign	Het
Mfhas1	C	T	8: 35,589,645	L425F	probably damaging	Het
Myo3a	A	T	2: 22,396,315	S632C	probably damaging	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nbeal1	T	A	1: 60,267,941	Y374*	probably null	Het
Notch3	T	C	17: 32,153,852	S582G	probably benign	Het
Nphs1	A	T	7: 30,474,373	Q985L	probably damaging	Het
Oas1c	T	A	5: 120,802,984	H248L	probably benign	Het
Olfr154	T	C	2: 85,663,997	I146V	probably benign	Het
Olfr193	A	T	16: 59,109,794	M272K	probably benign	Het
Olfr368	A	T	2: 37,331,884	N46Y	probably damaging	Het
Olfr955	A	G	9: 39,470,037	S230P	possibly damaging	Het
Pamr1	A	T	2: 102,642,272	I639F	possibly damaging	Het
Panx1	G	T	9: 15,007,684	T293K	possibly damaging	Het
Papss1	G	T	3: 131,599,871	V226F	probably benign	Het
Pax1	G	T	2: 147,367,889	G301V	possibly damaging	Het
Pdlim5	C	A	3: 142,244,981	R557L	possibly damaging	Het
Pdyn	C	A	2: 129,689,809	M20I	probably benign	Het
Pelp1	G	A	11: 70,393,715		probably null	Het
Pkd2	T	C	5: 104,478,924	V324A	probably damaging	Het
Pkdrej	A	G	15: 85,819,167	I856T	probably benign	Het
Pot1a	A	T	6: 25,753,324	D404E	probably benign	Het
Ppp2r2a	A	T	14: 67,016,429	I430N	possibly damaging	Het
Prob1	C	T	18: 35,654,226	R325Q	possibly damaging	Het
Prrc2a	T	C	17: 35,157,908	D742G	probably damaging	Het
Psmc1	C	T	12: 100,114,843	P54S	probably benign	Het
Rab22a	A	G	2: 173,688,211	T61A	probably damaging	Het
Rims1	T	A	1: 22,288,530	K184N	probably damaging	Het
Rnf213	G	A	11: 119,431,685	R1376H	probably damaging	Het
Ryr2	T	C	13: 11,668,962	E3072G	probably damaging	Het
Serpina1b	T	C	12: 103,732,161	K143R	probably benign	Het
Slc22a15	T	G	3: 101,880,189		probably null	Het
Slc25a14	G	A	X: 48,651,963	V210I	probably benign	Het
Slc25a48	A	C	13: 56,448,998	T31P	probably damaging	Het
Slc9a3	C	T	13: 74,166,056		probably null	Het
Slx4	T	C	16: 3,987,166	*105W	probably null	Het
Smc6	A	G	12: 11,299,398	N794S	probably benign	Het
Spata18	G	A	5: 73,676,964	R387Q	probably damaging	Het
Sphkap	C	A	1: 83,267,441	E1486*	probably null	Het
Srsf6	C	T	2: 162,934,483		probably benign	Het
St8sia1	C	T	6: 142,963,672	A33T	probably damaging	Het
Tet2	T	C	3: 133,488,638	T12A	possibly damaging	Het
Tmem144	G	T	3: 79,825,304	S222R	probably damaging	Het
Tnrc6c	A	G	11: 117,756,023	D1450G	possibly damaging	Het
Top1	A	T	2: 160,670,122	K27N	unknown	Het
Tox2	A	G	2: 163,225,556	H30R	probably benign	Het
Tra2b	T	C	16: 22,247,243		probably benign	Het
Trio	A	T	15: 27,833,056	V1165E	probably damaging	Het
Troap	T	A	15: 99,077,388	S145R	probably damaging	Het
Ttc34	G	A	4: 154,865,682	A1031T	possibly damaging	Het
Ttc6	C	T	12: 57,616,323	P302S	probably benign	Het
Ubiad1	A	G	4: 148,444,011	L147P	probably damaging	Het
Ugt2b35	G	T	5: 87,001,282	V131F	probably damaging	Het
Vmn1r167	G	A	7: 23,505,027	T188I	probably benign	Het
Vmn1r46	G	T	6: 89,976,734	M188I	probably benign	Het
Vmn2r115	T	A	17: 23,359,414	N620K	probably damaging	Het
Vmn2r66	A	G	7: 84,995,136	S689P	probably damaging	Het
Wipf2	C	T	11: 98,892,410	R221*	probably null	Het
Zbtb16	T	C	9: 48,659,778	S563G	probably benign	Het
Zfp319	T	C	8: 95,328,571	T335A	probably damaging	Het
Zfp418	A	G	7: 7,182,402	R455G	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
R0330: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
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

PCR Primer
(F):5'- TGAACCGACAGCCTACCTTG -3'
(R):5'- CTGGTTCTCTAGAATGGCTGC -3'

Sequencing Primer
(F):5'- GACAGCCTACCTTGCACAG -3'
(R):5'- GGCTGCCCCAGGTTTTC -3'

Posted On

2014-07-14