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

RPC155, 9330175N20Rik, RPC1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24498764-24537126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24503313 bp (GRCm39)

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
Actn1	A	G	12: 80,230,393 (GRCm39)	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,616,237 (GRCm39)	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,172,026 (GRCm39)	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,617,551 (GRCm39)	P109S	probably damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Capns1	C	T	7: 29,891,612 (GRCm39)	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,455,994 (GRCm39)	V341I	possibly damaging	Het
Cd36	T	C	5: 18,002,033 (GRCm39)	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Ckap2l	G	A	2: 129,111,161 (GRCm39)	Q679*	probably null	Het
Clec4g	T	A	8: 3,768,565 (GRCm39)	N93I	probably benign	Het
Cntnap2	T	A	6: 45,992,165 (GRCm39)	L364Q	probably damaging	Het
Cul9	A	G	17: 46,841,026 (GRCm39)	M748T	probably benign	Het
Dnah11	A	T	12: 118,150,711 (GRCm39)	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,642,260 (GRCm39)	Y61N	probably benign	Het
Dock6	A	T	9: 21,713,802 (GRCm39)	Y1909*	probably null	Het
Dock8	T	A	19: 25,165,739 (GRCm39)	D1874E	probably benign	Het
Dpm1	A	G	2: 168,072,210 (GRCm39)	S22P	probably benign	Het
Dysf	T	C	6: 84,128,885 (GRCm39)	L1385P	probably damaging	Het
Egf	T	C	3: 129,491,421 (GRCm39)	T859A	probably benign	Het
Eif2b1	A	T	5: 124,711,867 (GRCm39)	S162T	probably benign	Het
Emilin1	T	C	5: 31,075,484 (GRCm39)	L575P	probably damaging	Het
Erp27	T	A	6: 136,886,550 (GRCm39)	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,765,945 (GRCm39)	D738E	possibly damaging	Het
Fcgbp	T	G	7: 27,790,937 (GRCm39)	C733G	probably damaging	Het
Fgb	T	A	3: 82,957,122 (GRCm39)		probably benign	Het
Gata3os	A	T	2: 9,887,634 (GRCm39)	T12S	unknown	Het
Got1l1	G	T	8: 27,688,503 (GRCm39)	Q283K	probably benign	Het
Grk2	G	A	19: 4,340,871 (GRCm39)	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,211,334 (GRCm39)	D194G	probably benign	Het
Ipcef1	G	A	10: 6,840,620 (GRCm39)	T363I	probably damaging	Het
Itga10	C	A	3: 96,564,273 (GRCm39)	T922N	probably damaging	Het
Itgad	T	C	7: 127,777,552 (GRCm39)	I144T	probably benign	Het
Kat6b	C	A	14: 21,567,564 (GRCm39)	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,088,383 (GRCm39)	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,486,355 (GRCm39)	S4733G	probably damaging	Het
Lrig3	A	G	10: 125,850,736 (GRCm39)	I1101V	probably benign	Het
Lrp1	T	A	10: 127,431,229 (GRCm39)	N311I	probably damaging	Het
Man2a1	A	T	17: 64,958,310 (GRCm39)	K275I	probably benign	Het
Map3k10	T	A	7: 27,364,434 (GRCm39)	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869 (GRCm39)	R408W	probably damaging	Het
Mast1	A	G	8: 85,647,805 (GRCm39)	M523T	probably damaging	Het
Mast4	T	C	13: 102,873,593 (GRCm39)	H1925R	probably benign	Het
Med12l	C	T	3: 58,984,207 (GRCm39)	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,333,237 (GRCm39)	K65E	probably damaging	Het
Mical1	T	C	10: 41,358,602 (GRCm39)	S507P	probably benign	Het
Miga2	T	C	2: 30,268,400 (GRCm39)	V433A	unknown	Het
Mpdz	T	C	4: 81,274,653 (GRCm39)	T848A	probably benign	Het
Mycn	A	G	12: 12,989,778 (GRCm39)	V206A	probably benign	Het
Ndst1	G	A	18: 60,838,220 (GRCm39)	Q342*	probably null	Het
Nectin1	A	G	9: 43,702,369 (GRCm39)	M39V	probably benign	Het
Nectin4	A	T	1: 171,210,209 (GRCm39)	R234*	probably null	Het
Ngb	C	G	12: 87,145,317 (GRCm39)	V113L	possibly damaging	Het
Nphp3	T	A	9: 103,913,337 (GRCm39)	Y990N	probably damaging	Het
Nrdc	T	C	4: 108,915,833 (GRCm39)		probably null	Het
Or10a2	A	T	7: 106,673,739 (GRCm39)	K235*	probably null	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or5p60	T	A	7: 107,723,801 (GRCm39)	Y223F	probably benign	Het
Osbpl6	A	G	2: 76,415,603 (GRCm39)	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,855,882 (GRCm39)	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,161,800 (GRCm39)	D164G	probably damaging	Het
Pde4d	T	A	13: 110,071,915 (GRCm39)	I303N	probably damaging	Het
Pdf	T	A	8: 107,774,972 (GRCm39)	M87L	probably benign	Het
Pigb	A	G	9: 72,941,840 (GRCm39)	S140P	probably damaging	Het
Plch1	T	A	3: 63,758,549 (GRCm39)		probably benign	Het
Plxna1	G	T	6: 89,319,633 (GRCm39)	D557E	probably benign	Het
Polr2e	C	T	10: 79,872,792 (GRCm39)	V149M	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Psmd2	T	A	16: 20,474,369 (GRCm39)	S308R	probably benign	Het
Ptger1	T	A	8: 84,396,002 (GRCm39)	V353E	probably damaging	Het
Ptprc	A	G	1: 137,996,111 (GRCm39)	M940T	probably benign	Het
Pus7l	T	C	15: 94,425,781 (GRCm39)	N540S	probably damaging	Het
Rap1gds1	T	A	3: 138,756,317 (GRCm39)	I13L	probably benign	Het
Rasl10b	A	T	11: 83,303,590 (GRCm39)	N49I	probably damaging	Het
Rftn1	A	T	17: 50,301,237 (GRCm39)	N537K	probably benign	Het
Rnase4	A	G	14: 51,342,645 (GRCm39)	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,338,302 (GRCm39)	N26K	probably benign	Het
Rnf31	G	A	14: 55,836,269 (GRCm39)		probably null	Het
Rpusd3	C	G	6: 113,393,200 (GRCm39)	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,664,270 (GRCm39)	V1694L	probably benign	Het
Sanbr	T	C	11: 23,559,098 (GRCm39)	Y372C	probably damaging	Het
Sephs2	T	C	7: 126,872,346 (GRCm39)	D249G	probably damaging	Het
Serpina10	A	G	12: 103,583,217 (GRCm39)	I409T	probably damaging	Het
Serpina5	C	T	12: 104,069,403 (GRCm39)	A205V	probably damaging	Het
Sfr1	T	A	19: 47,723,453 (GRCm39)	V319E	probably damaging	Het
Skil	T	A	3: 31,171,639 (GRCm39)	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,049,954 (GRCm39)	T154A	probably benign	Het
Slc27a2	T	A	2: 126,429,846 (GRCm39)	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,726,808 (GRCm39)	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,344,443 (GRCm39)	I144M	probably benign	Het
Stat5a	T	A	11: 100,771,161 (GRCm39)	V580E		Het
Tnk1	C	T	11: 69,746,011 (GRCm39)	D305N	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Trav12-2	A	G	14: 53,854,085 (GRCm39)	N20D	probably benign	Het
Trav16	T	A	14: 53,981,046 (GRCm39)	N78K	probably damaging	Het
Trf	C	T	9: 103,104,130 (GRCm39)	A78T	probably damaging	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,477,261 (GRCm39)	F383L	probably benign	Het
Vwa2	T	C	19: 56,895,208 (GRCm39)	S461P	probably benign	Het
Zfp991	G	A	4: 147,264,327 (GRCm39)	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,134,440 (GRCm39)	F15S	probably damaging	Het

Other mutations in Polr3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Polr3a	APN	14	24,525,931 (GRCm39)	missense	probably benign	0.35
IGL00974:Polr3a	APN	14	24,529,492 (GRCm39)	missense	probably benign	0.05
IGL01348:Polr3a	APN	14	24,511,831 (GRCm39)	missense	probably damaging	1.00
IGL01464:Polr3a	APN	14	24,520,749 (GRCm39)	splice site	probably benign
IGL01785:Polr3a	APN	14	24,534,188 (GRCm39)	nonsense	probably null
IGL01786:Polr3a	APN	14	24,534,188 (GRCm39)	nonsense	probably null
IGL01936:Polr3a	APN	14	24,529,256 (GRCm39)	missense	probably damaging	1.00
IGL02095:Polr3a	APN	14	24,504,678 (GRCm39)	missense	possibly damaging	0.91
IGL02454:Polr3a	APN	14	24,525,891 (GRCm39)	missense	possibly damaging	0.87
IGL02702:Polr3a	APN	14	24,520,945 (GRCm39)	missense	probably benign	0.07
IGL02961:Polr3a	APN	14	24,517,108 (GRCm39)	nonsense	probably null
IGL03069:Polr3a	APN	14	24,511,808 (GRCm39)	missense	probably damaging	0.99
R0001:Polr3a	UTSW	14	24,502,257 (GRCm39)	splice site	probably benign
R0048:Polr3a	UTSW	14	24,519,323 (GRCm39)	splice site	probably benign
R0157:Polr3a	UTSW	14	24,529,254 (GRCm39)	missense	probably damaging	0.99
R0445:Polr3a	UTSW	14	24,504,989 (GRCm39)	missense	probably benign	0.00
R0449:Polr3a	UTSW	14	24,534,534 (GRCm39)	missense	probably damaging	0.99
R0597:Polr3a	UTSW	14	24,534,202 (GRCm39)	missense	probably benign	0.29
R0604:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0644:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0703:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0754:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0767:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0816:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0817:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0819:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0840:Polr3a	UTSW	14	24,502,268 (GRCm39)	missense	possibly damaging	0.95
R1481:Polr3a	UTSW	14	24,502,616 (GRCm39)	missense	probably null	0.98
R1644:Polr3a	UTSW	14	24,520,692 (GRCm39)	missense	probably damaging	1.00
R1699:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R1704:Polr3a	UTSW	14	24,534,188 (GRCm39)	nonsense	probably null
R2363:Polr3a	UTSW	14	24,525,960 (GRCm39)	splice site	probably null
R3419:Polr3a	UTSW	14	24,517,103 (GRCm39)	missense	probably damaging	1.00
R3934:Polr3a	UTSW	14	24,526,169 (GRCm39)	missense	probably benign	0.30
R4296:Polr3a	UTSW	14	24,503,264 (GRCm39)	missense	possibly damaging	0.82
R4611:Polr3a	UTSW	14	24,502,576 (GRCm39)	splice site	probably null
R4690:Polr3a	UTSW	14	24,514,349 (GRCm39)	missense	possibly damaging	0.78
R4934:Polr3a	UTSW	14	24,502,692 (GRCm39)	missense	probably benign	0.11
R4947:Polr3a	UTSW	14	24,532,532 (GRCm39)	missense	probably benign	0.00
R5232:Polr3a	UTSW	14	24,503,279 (GRCm39)	missense	probably benign	0.00
R5263:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5264:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5265:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5282:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5319:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5321:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5323:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5387:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5388:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5401:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5402:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5443:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5444:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5725:Polr3a	UTSW	14	24,515,455 (GRCm39)	splice site	probably null
R5841:Polr3a	UTSW	14	24,500,766 (GRCm39)	missense	probably benign	0.00
R6408:Polr3a	UTSW	14	24,536,939 (GRCm39)	critical splice donor site	probably null
R6704:Polr3a	UTSW	14	24,511,910 (GRCm39)	missense	probably damaging	1.00
R7136:Polr3a	UTSW	14	24,511,883 (GRCm39)	missense	probably damaging	1.00
R7307:Polr3a	UTSW	14	24,510,055 (GRCm39)	missense	probably benign	0.03
R7368:Polr3a	UTSW	14	24,517,144 (GRCm39)	missense	probably damaging	0.98
R7800:Polr3a	UTSW	14	24,534,455 (GRCm39)	missense	probably null	0.83
R8753:Polr3a	UTSW	14	24,513,702 (GRCm39)	nonsense	probably null
R8785:Polr3a	UTSW	14	24,502,383 (GRCm39)	missense	probably benign	0.06
R8848:Polr3a	UTSW	14	24,500,834 (GRCm39)	missense	probably damaging	1.00
R9025:Polr3a	UTSW	14	24,519,479 (GRCm39)	missense	probably damaging	1.00
R9139:Polr3a	UTSW	14	24,519,416 (GRCm39)	missense	probably damaging	1.00
R9264:Polr3a	UTSW	14	24,520,899 (GRCm39)	missense	probably benign
R9309:Polr3a	UTSW	14	24,510,067 (GRCm39)	missense	probably benign
R9363:Polr3a	UTSW	14	24,500,831 (GRCm39)	missense	probably damaging	1.00
R9585:Polr3a	UTSW	14	24,502,289 (GRCm39)	missense	probably damaging	1.00
Z1088:Polr3a	UTSW	14	24,529,792 (GRCm39)	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