Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02095:Polr3a'

279558

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

24448696-24487058 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24454610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1130 (V1130A)

Ref Sequence

ENSEMBL: ENSMUSP00000026322 (fasta)

Gene Model

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

AlphaFold

B2RXC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026322
AA Change: V1130A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: V1130A

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: ENSMUST00000223848

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,661,626	Q794L	probably benign	Het
Acrbp	C	A	6: 125,053,956	Y313*	probably null	Het
Adam9	A	G	8: 24,996,729	S178P	probably benign	Het
Adgrv1	T	C	13: 81,579,790	I244V	possibly damaging	Het
Atad5	A	G	11: 80,094,707	S207G	probably benign	Het
Atp10a	A	G	7: 58,807,393	D880G	probably damaging	Het
Cadps2	A	G	6: 23,427,310	I573T	probably benign	Het
Camsap3	A	G	8: 3,603,845	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,493	E438G	probably damaging	Het
Cisd2	T	C	3: 135,411,219	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,681,032	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,623,791	G544D	possibly damaging	Het
Dok2	G	T	14: 70,777,861	G343W	possibly damaging	Het
Dscaml1	A	G	9: 45,447,703	N87D	probably damaging	Het
Ehf	T	C	2: 103,266,991	Y237C	probably damaging	Het
Exoc3	T	C	13: 74,180,536	T569A	probably damaging	Het
Fam151a	T	C	4: 106,747,875	V478A	probably damaging	Het
Fam227b	T	A	2: 126,101,004	H291L	probably damaging	Het
Fmn2	A	G	1: 174,502,601	T186A	unknown	Het
Ggnbp2	T	C	11: 84,833,128	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,608,803	M318I	probably benign	Het
Gprc5d	A	G	6: 135,116,177	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,232,787	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,702,005	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,700,027		probably benign	Het
Krt40	T	C	11: 99,541,671	D173G	probably damaging	Het
Lrrc27	C	T	7: 139,230,253	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,629,404	N125S	probably benign	Het
Mtor	C	T	4: 148,544,541	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,411,231	R866W	probably damaging	Het
Olfr1424	C	A	19: 12,059,549	V68F	probably benign	Het
Olfr982	T	A	9: 40,074,671	Y125*	probably null	Het
P2ry6	T	A	7: 100,938,864	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,756,156	S237T	probably benign	Het
Pck2	G	A	14: 55,542,510	R72Q	probably benign	Het
Pik3c2a	C	T	7: 116,346,188	R1461Q	probably damaging	Het
Ppm1d	T	A	11: 85,327,006	D198E	probably benign	Het
Rasa1	T	A	13: 85,216,155	E1022D	probably benign	Het
Rbm25	T	C	12: 83,671,974	Y507H	probably damaging	Het
Rbm26	A	T	14: 105,144,260	I488K	probably damaging	Het
Ryr2	T	A	13: 11,759,759	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,834,830	T1198P	probably damaging	Het
Sema3g	C	T	14: 31,227,824	T654I	probably benign	Het
Spag9	A	T	11: 94,108,582	H1108L	probably damaging	Het
Tcrg-C2	T	A	13: 19,307,410		probably benign	Het
Ubap2	T	C	4: 41,229,709	N142S	probably benign	Het
Usp33	T	C	3: 152,381,794	F699L	possibly damaging	Het
Ythdc2	A	G	18: 44,873,140		probably benign	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
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
R9526:Polr3a	UTSW	14	24453245	missense	probably benign	0.00
R9585:Polr3a	UTSW	14	24452221	missense	probably damaging	1.00
Z1088:Polr3a	UTSW	14	24479724	missense	probably damaging	0.96

Posted On

2015-04-16