Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Polr3a'

719271

Institutional Source

Beutler Lab

Gene Symbol

Polr3a

Ensembl Gene

ENSMUSG00000025280

Gene Name

polymerase (RNA) III (DNA directed) polypeptide A

Synonyms

RPC1, 9330175N20Rik, RPC155

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24448696-24487058 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24453245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1174 (C1174S)

Ref Sequence

ENSEMBL: ENSMUSP00000026322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026322] [ENSMUST00000223718]

AlphaFold

B2RXC6

Predicted Effect

probably benign
Transcript: ENSMUST00000026322
AA Change: C1174S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: C1174S

Domain	Start	End	E-Value	Type
Blast:RPOLA_N	122	218	5e-43	BLAST
RPOLA_N	248	553	1.09e-176	SMART
Pfam:RNA_pol_Rpb1_4	728	834	4e-35	PFAM
Pfam:RNA_pol_Rpb1_5	841	1318	1.2e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223718

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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 catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,609,098	Y372C	probably damaging	Het
4930412O13Rik	A	T	2: 9,882,823	T12S	unknown	Het
Actn1	A	G	12: 80,183,619	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,305,346	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,260,730	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,629,119	P109S	probably damaging	Het
Camsap1	G	A	2: 25,953,950	H230Y	probably benign	Het
Capns1	C	T	7: 30,192,187	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,598,797	V341I	possibly damaging	Het
Cd36	T	C	5: 17,797,035	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,293,860		probably benign	Het
Ckap2l	G	A	2: 129,269,241	Q679*	probably null	Het
Clec4g	T	A	8: 3,718,565	N93I	probably benign	Het
Cntnap2	T	A	6: 46,015,231	L364Q	probably damaging	Het
Cul9	A	G	17: 46,530,100	M748T	probably benign	Het
Dnah11	A	T	12: 118,186,976	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,806,391	Y61N	probably benign	Het
Dock6	A	T	9: 21,802,506	Y1909*	probably null	Het
Dock8	T	A	19: 25,188,375	D1874E	probably benign	Het
Dpm1	A	G	2: 168,230,290	S22P	probably benign	Het
Dysf	T	C	6: 84,151,903	L1385P	probably damaging	Het
Egf	T	C	3: 129,697,772	T859A	probably benign	Het
Eif2b1	A	T	5: 124,573,804	S162T	probably benign	Het
Emilin1	T	C	5: 30,918,140	L575P	probably damaging	Het
Erp27	T	A	6: 136,909,552	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,875,119	D738E	possibly damaging	Het
Fcgbp	T	G	7: 28,091,512	C733G	probably damaging	Het
Fgb	T	A	3: 83,049,815		probably benign	Het
Gm8882	T	A	6: 132,361,928	N109I	unknown	Het
Got1l1	G	T	8: 27,198,475	Q283K	probably benign	Het
Grk2	G	A	19: 4,290,843	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,234,354	D194G	probably benign	Het
Ipcef1	G	A	10: 6,890,620	T363I	probably damaging	Het
Itga10	C	A	3: 96,656,957	T922N	probably damaging	Het
Itgad	T	C	7: 128,178,380	I144T	probably benign	Het
Kat6b	C	A	14: 21,517,496	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,038,384	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,281,357	S4733G	probably damaging	Het
Lrig3	A	G	10: 126,014,867	I1101V	probably benign	Het
Lrp1	T	A	10: 127,595,360	N311I	probably damaging	Het
Man2a1	A	T	17: 64,651,315	K275I	probably benign	Het
Map3k10	T	A	7: 27,665,009	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869	R408W	probably damaging	Het
Mast1	A	G	8: 84,921,176	M523T	probably damaging	Het
Mast4	T	C	13: 102,737,085	H1925R	probably benign	Het
Med12l	C	T	3: 59,076,786	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,502,756	K65E	probably damaging	Het
Mical1	T	C	10: 41,482,606	S507P	probably benign	Het
Miga2	T	C	2: 30,378,388	V433A	unknown	Het
Mpdz	T	C	4: 81,356,416	T848A	probably benign	Het
Mycn	A	G	12: 12,939,777	V206A	probably benign	Het
Ndst1	G	A	18: 60,705,148	Q342*	probably null	Het
Nectin1	A	G	9: 43,791,072	M39V	probably benign	Het
Nectin4	A	T	1: 171,382,641	R234*	probably null	Het
Ngb	C	G	12: 87,098,543	V113L	possibly damaging	Het
Nphp3	T	A	9: 104,036,138	Y990N	probably damaging	Het
Nrd1	T	C	4: 109,058,636		probably null	Het
Olfr382	T	A	11: 73,516,525	I225F	probably damaging	Het
Olfr484	T	A	7: 108,124,594	Y223F	probably benign	Het
Olfr714	A	T	7: 107,074,532	K235*	probably null	Het
Osbpl6	A	G	2: 76,585,259	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,722,829	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,325,966	D164G	probably damaging	Het
Pde4d	T	A	13: 109,935,381	I303N	probably damaging	Het
Pdf	T	A	8: 107,048,340	M87L	probably benign	Het
Pigb	A	G	9: 73,034,558	S140P	probably damaging	Het
Plch1	T	A	3: 63,851,128		probably benign	Het
Plxna1	G	T	6: 89,342,651	D557E	probably benign	Het
Polr2e	C	T	10: 80,036,958	V149M	probably benign	Het
Psmd2	T	A	16: 20,655,619	S308R	probably benign	Het
Ptger1	T	A	8: 83,669,373	V353E	probably damaging	Het
Ptprc	A	G	1: 138,068,373	M940T	probably benign	Het
Pus7l	T	C	15: 94,527,900	N540S	probably damaging	Het
Rap1gds1	T	A	3: 139,050,556	I13L	probably benign	Het
Rasl10b	A	T	11: 83,412,764	N49I	probably damaging	Het
Rftn1	A	T	17: 49,994,209	N537K	probably benign	Het
Rnase4	A	G	14: 51,105,188	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,361,319	N26K	probably benign	Het
Rnf31	G	A	14: 55,598,812		probably null	Het
Rpusd3	C	G	6: 113,416,239	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Ryr3	C	A	2: 112,833,925	V1694L	probably benign	Het
Sephs2	T	C	7: 127,273,174	D249G	probably damaging	Het
Serpina10	A	G	12: 103,616,958	I409T	probably damaging	Het
Serpina5	C	T	12: 104,103,144	A205V	probably damaging	Het
Sfr1	T	A	19: 47,735,014	V319E	probably damaging	Het
Skil	T	A	3: 31,117,490	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,072,956	T154A	probably benign	Het
Slc27a2	T	A	2: 126,587,926	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,749,827	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,437,136	I144M	probably benign	Het
Stat5a	T	A	11: 100,880,335	V580E		Het
Tnk1	C	T	11: 69,855,185	D305N	probably damaging	Het
Tox2	A	G	2: 163,323,010	*523W	probably null	Het
Trav12-2	A	G	14: 53,616,628	N20D	probably benign	Het
Trav16	T	A	14: 53,743,589	N78K	probably damaging	Het
Trf	C	T	9: 103,226,931	A78T	probably damaging	Het
Ttn	A	G	2: 76,881,199		probably benign	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,256,999	F383L	probably benign	Het
Vwa2	T	C	19: 56,906,776	S461P	probably benign	Het
Zfp991	G	A	4: 147,179,870	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,084,410	F15S	probably damaging	Het

Other mutations in Polr3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Polr3a	APN	14	24475863	missense	probably benign	0.35
IGL00974:Polr3a	APN	14	24479424	missense	probably benign	0.05
IGL01348:Polr3a	APN	14	24461763	missense	probably damaging	1.00
IGL01464:Polr3a	APN	14	24470681	splice site	probably benign
IGL01785:Polr3a	APN	14	24484120	nonsense	probably null
IGL01786:Polr3a	APN	14	24484120	nonsense	probably null
IGL01936:Polr3a	APN	14	24479188	missense	probably damaging	1.00
IGL02095:Polr3a	APN	14	24454610	missense	possibly damaging	0.91
IGL02454:Polr3a	APN	14	24475823	missense	possibly damaging	0.87
IGL02702:Polr3a	APN	14	24470877	missense	probably benign	0.07
IGL02961:Polr3a	APN	14	24467040	nonsense	probably null
IGL03069:Polr3a	APN	14	24461740	missense	probably damaging	0.99
R0001:Polr3a	UTSW	14	24452189	splice site	probably benign
R0048:Polr3a	UTSW	14	24469255	splice site	probably benign
R0157:Polr3a	UTSW	14	24479186	missense	probably damaging	0.99
R0445:Polr3a	UTSW	14	24454921	missense	probably benign	0.00
R0449:Polr3a	UTSW	14	24484466	missense	probably damaging	0.99
R0597:Polr3a	UTSW	14	24484134	missense	probably benign	0.29
R0604:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0644:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0703:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0754:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0767:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0816:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0817:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0819:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0840:Polr3a	UTSW	14	24452200	missense	possibly damaging	0.95
R1481:Polr3a	UTSW	14	24452548	missense	probably null	0.98
R1644:Polr3a	UTSW	14	24470624	missense	probably damaging	1.00
R1699:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R1704:Polr3a	UTSW	14	24484120	nonsense	probably null
R2363:Polr3a	UTSW	14	24475892	splice site	probably null
R3419:Polr3a	UTSW	14	24467035	missense	probably damaging	1.00
R3934:Polr3a	UTSW	14	24476101	missense	probably benign	0.30
R4296:Polr3a	UTSW	14	24453196	missense	possibly damaging	0.82
R4611:Polr3a	UTSW	14	24452508	splice site	probably null
R4690:Polr3a	UTSW	14	24464281	missense	possibly damaging	0.78
R4934:Polr3a	UTSW	14	24452624	missense	probably benign	0.11
R4947:Polr3a	UTSW	14	24482464	missense	probably benign	0.00
R5232:Polr3a	UTSW	14	24453211	missense	probably benign	0.00
R5263:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5264:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5265:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5282:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5319:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5321:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5323:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5387:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5388:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5401:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5402:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5443:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5444:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5725:Polr3a	UTSW	14	24465387	splice site	probably null
R5841:Polr3a	UTSW	14	24450698	missense	probably benign	0.00
R6408:Polr3a	UTSW	14	24486871	critical splice donor site	probably null
R6704:Polr3a	UTSW	14	24461842	missense	probably damaging	1.00
R7136:Polr3a	UTSW	14	24461815	missense	probably damaging	1.00
R7307:Polr3a	UTSW	14	24459987	missense	probably benign	0.03
R7368:Polr3a	UTSW	14	24467076	missense	probably damaging	0.98
R7800:Polr3a	UTSW	14	24484387	missense	probably null	0.83
R8753:Polr3a	UTSW	14	24463634	nonsense	probably null
R8785:Polr3a	UTSW	14	24452315	missense	probably benign	0.06
R8848:Polr3a	UTSW	14	24450766	missense	probably damaging	1.00
R9025:Polr3a	UTSW	14	24469411	missense	probably damaging	1.00
R9139:Polr3a	UTSW	14	24469348	missense	probably damaging	1.00
R9264:Polr3a	UTSW	14	24470831	missense	probably benign
R9309:Polr3a	UTSW	14	24459999	missense	probably benign
R9363:Polr3a	UTSW	14	24450763	missense	probably damaging	1.00
R9585:Polr3a	UTSW	14	24452221	missense	probably damaging	1.00
Z1088:Polr3a	UTSW	14	24479724	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTTAGGGATATGACCACGAGGG -3'
(R):5'- GTAACTTCTGTGGCAGAGGAG -3'

Sequencing Primer
(F):5'- AGGGAGTGGGGTGCCATC -3'
(R):5'- AGACTTCTTAAAGCATCCTCATGTC -3'

Posted On

2022-07-18