Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01464:Polr3a'

88075

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr3a

Ensembl Gene

ENSMUSG00000025280

Gene Name

polymerase (RNA) III (DNA directed) polypeptide A

Synonyms

RPC155, 9330175N20Rik, RPC1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01464

Quality Score

Status

Chromosome

Chromosomal Location

24498764-24537126 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 24520749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153243 (fasta)

Gene Model

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

AlphaFold

B2RXC6

Predicted Effect

probably benign
Transcript: ENSMUST00000026322

SMART Domains

Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225526

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	C	A	1: 165,374,156 (GRCm39)	H748Q	probably damaging	Het
Aebp1	T	C	11: 5,819,822 (GRCm39)	V329A	possibly damaging	Het
Ankk1	T	C	9: 49,327,272 (GRCm39)	T636A	probably benign	Het
Apoh	A	T	11: 108,286,716 (GRCm39)	I47F	probably damaging	Het
Atg9a	A	G	1: 75,167,010 (GRCm39)	S14P	probably damaging	Het
Calb1	T	A	4: 15,881,485 (GRCm39)		probably benign	Het
Ccdc121rt3	A	G	5: 112,503,399 (GRCm39)	S102P	possibly damaging	Het
Cd86	T	C	16: 36,441,315 (GRCm39)	S51G	probably benign	Het
Ctsll3	C	T	13: 60,948,134 (GRCm39)	G181D	probably damaging	Het
Elmod2	G	A	8: 84,043,421 (GRCm39)		probably benign	Het
Ephx3	A	G	17: 32,407,219 (GRCm39)	S240P	probably damaging	Het
Greb1	T	C	12: 16,764,827 (GRCm39)	I435M	probably damaging	Het
Itpr1	A	G	6: 108,363,688 (GRCm39)	D770G	possibly damaging	Het
Kmt2c	G	A	5: 25,557,242 (GRCm39)	T1155I	possibly damaging	Het
Lrp2	T	C	2: 69,302,783 (GRCm39)	D2982G	probably damaging	Het
Map1b	C	T	13: 99,569,251 (GRCm39)	V1157I	unknown	Het
Nlrp4c	T	C	7: 6,103,783 (GRCm39)	C906R	possibly damaging	Het
Nlrp9b	T	A	7: 19,796,580 (GRCm39)	N976K	probably benign	Het
Nos1	T	C	5: 118,081,257 (GRCm39)	F1153S	probably damaging	Het
Pnrc1	T	C	4: 33,246,395 (GRCm39)	Y188C	probably benign	Het
Rgs22	T	C	15: 36,083,787 (GRCm39)	T512A	possibly damaging	Het
Rhbdf2	C	T	11: 116,491,734 (GRCm39)	G574S	probably benign	Het
Rnf123	T	C	9: 107,929,501 (GRCm39)	D1217G	probably damaging	Het
Slc19a2	T	C	1: 164,088,430 (GRCm39)	S92P	probably damaging	Het
Sycp2	A	T	2: 178,043,425 (GRCm39)	I139N	probably damaging	Het
Vmn2r91	A	G	17: 18,327,864 (GRCm39)	N486S	probably null	Het
Xpo1	T	A	11: 23,217,703 (GRCm39)	H56Q	probably damaging	Het
Zbtb44	T	A	9: 30,965,580 (GRCm39)	L330H	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
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
R9526:Polr3a	UTSW	14	24,503,313 (GRCm39)	missense	probably benign	0.00
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

Posted On

2013-11-18