Mutagenetix > Incidental Mutations

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

RPC1, 9330175N20Rik, RPC155

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.983) question?

Stock #

IGL01785

Quality Score

Status

Chromosome

Chromosomal Location

24448696-24487058 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 24484120 bp

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]

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: 8,915,058	Y309*	probably null	Het
Abhd18	G	A	3: 40,905,904	R42Q	probably damaging	Het
Ano3	T	A	2: 110,682,715	Q645L	probably damaging	Het
Clasp1	T	A	1: 118,497,736	L272Q	possibly damaging	Het
Clec1b	A	G	6: 129,403,562	D115G	probably damaging	Het
Clec2e	A	T	6: 129,093,401		probably benign	Het
Corin	T	C	5: 72,339,876	N532S	probably damaging	Het
Csn1s2b	A	G	5: 87,809,913	K2R	possibly damaging	Het
Mcm8	A	G	2: 132,827,948	D314G	probably benign	Het
Mga	T	A	2: 119,902,912	D80E	probably damaging	Het
Msh4	A	G	3: 153,857,507	L744P	probably damaging	Het
Myof	A	T	19: 37,980,423	L348*	probably null	Het
Olfr1348	T	C	7: 6,501,900	I109V	probably benign	Het
Olfr530	T	A	7: 140,373,125	M162L	probably benign	Het
Otud3	T	C	4: 138,896,897	D278G	probably benign	Het
Pdpr	C	A	8: 111,129,656	H670Q	probably damaging	Het
Phf21b	C	A	15: 84,808,061		probably benign	Het
Ptprm	G	T	17: 66,685,623	N1366K	probably damaging	Het
Slc10a5	G	A	3: 10,335,199	P134S	probably benign	Het
Slc30a9	A	G	5: 67,346,238		probably benign	Het
Stat6	T	A	10: 127,657,227	V576D	probably damaging	Het
Tmem132d	T	C	5: 127,984,315	I408V	probably benign	Het
Tmem50a	T	C	4: 134,898,447	E153G	probably damaging	Het
Tmod4	A	G	3: 95,125,618	T22A	probably benign	Het
Tmprss7	C	T	16: 45,680,634	G268D	probably damaging	Het
Tor1a	A	G	2: 30,963,703		probably null	Het
Ttc29	T	C	8: 78,282,341	L280P	probably damaging	Het
Tusc5	G	A	11: 76,680,466	V103I	probably benign	Het
Usp20	A	G	2: 31,017,163	E594G	probably benign	Het
Vmn1r31	A	C	6: 58,472,724	M3R	possibly 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
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
Z1088:Polr3a	UTSW	14	24479724	missense	probably damaging	0.96

Posted On

2015-04-16