Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01785:Polr3a'

278866

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 #

IGL01785

Quality Score

Status

Chromosome

Chromosomal Location

24498764-24537126 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 24534188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 106 (Q106*)

Ref Sequence

ENSEMBL: ENSMUSP00000153243 (fasta)

Gene Model

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

AlphaFold

B2RXC6

Predicted Effect

probably null
Transcript: ENSMUST00000026322
AA Change: Q106*

SMART Domains

Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: Q106*

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 null
Transcript: ENSMUST00000223718
AA Change: Q106*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225014

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,965,058 (GRCm39)	Y309*	probably null	Het
Abhd18	G	A	3: 40,860,339 (GRCm39)	R42Q	probably damaging	Het
Ano3	T	A	2: 110,513,060 (GRCm39)	Q645L	probably damaging	Het
Clasp1	T	A	1: 118,425,466 (GRCm39)	L272Q	possibly damaging	Het
Clec1b	A	G	6: 129,380,525 (GRCm39)	D115G	probably damaging	Het
Clec2e	A	T	6: 129,070,364 (GRCm39)		probably benign	Het
Corin	T	C	5: 72,497,219 (GRCm39)	N532S	probably damaging	Het
Csn1s2b	A	G	5: 87,957,772 (GRCm39)	K2R	possibly damaging	Het
Mcm8	A	G	2: 132,669,868 (GRCm39)	D314G	probably benign	Het
Mga	T	A	2: 119,733,393 (GRCm39)	D80E	probably damaging	Het
Msh4	A	G	3: 153,563,144 (GRCm39)	L744P	probably damaging	Het
Myof	A	T	19: 37,968,871 (GRCm39)	L348*	probably null	Het
Or12j3	T	A	7: 139,953,038 (GRCm39)	M162L	probably benign	Het
Or6z1	T	C	7: 6,504,899 (GRCm39)	I109V	probably benign	Het
Otud3	T	C	4: 138,624,208 (GRCm39)	D278G	probably benign	Het
Pdpr	C	A	8: 111,856,288 (GRCm39)	H670Q	probably damaging	Het
Phf21b	C	A	15: 84,692,262 (GRCm39)		probably benign	Het
Ptprm	G	T	17: 66,992,618 (GRCm39)	N1366K	probably damaging	Het
Slc10a5	G	A	3: 10,400,259 (GRCm39)	P134S	probably benign	Het
Slc30a9	A	G	5: 67,503,581 (GRCm39)		probably benign	Het
Stat6	T	A	10: 127,493,096 (GRCm39)	V576D	probably damaging	Het
Tmem132d	T	C	5: 128,061,379 (GRCm39)	I408V	probably benign	Het
Tmem50a	T	C	4: 134,625,758 (GRCm39)	E153G	probably damaging	Het
Tmod4	A	G	3: 95,032,929 (GRCm39)	T22A	probably benign	Het
Tmprss7	C	T	16: 45,500,997 (GRCm39)	G268D	probably damaging	Het
Tor1a	A	G	2: 30,853,715 (GRCm39)		probably null	Het
Trarg1	G	A	11: 76,571,292 (GRCm39)	V103I	probably benign	Het
Ttc29	T	C	8: 79,008,970 (GRCm39)	L280P	probably damaging	Het
Usp20	A	G	2: 30,907,175 (GRCm39)	E594G	probably benign	Het
Vmn1r31	A	C	6: 58,449,709 (GRCm39)	M3R	possibly 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
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

2015-04-16