Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03369:Polr3b'

420211

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr3b

Ensembl Gene

ENSMUSG00000034453

Gene Name

polymerase (RNA) III (DNA directed) polypeptide B

Synonyms

RPC2, A330032P03Rik, 2700078H01Rik

Accession Numbers

Genbank: NM_027423

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03369

Quality Score

Status

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84676952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 566 (G566D)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077175]

AlphaFold

P59470

Predicted Effect

probably damaging
Transcript: ENSMUST00000077175
AA Change: G566D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: G566D

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_Rpb2_1	38	413	2e-55	PFAM
Pfam:RNA_pol_Rpb2_2	185	363	8.4e-29	PFAM
Pfam:RNA_pol_Rpb2_3	438	502	2.6e-22	PFAM
Pfam:RNA_pol_Rpb2_4	539	600	1e-29	PFAM
Pfam:RNA_pol_Rpb2_5	621	661	6.5e-14	PFAM
Pfam:RNA_pol_Rpb2_6	668	1041	5.8e-129	PFAM
Pfam:RNA_pol_Rpb2_7	1043	1129	7.6e-36	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

All alleles(48) : Targeted, other(2) Gene trapped(46)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,356,421	N72S	possibly damaging	Het
A2m	G	A	6: 121,676,903		probably null	Het
Angptl3	A	T	4: 99,034,820		probably benign	Het
Aox4	A	G	1: 58,262,587	D1106G	probably benign	Het
Capn13	G	A	17: 73,341,154		probably benign	Het
Cep250	A	G	2: 155,990,271	H1371R	probably benign	Het
Chrna1	A	T	2: 73,570,445	F247Y	probably benign	Het
Col2a1	T	C	15: 97,982,042	T813A	unknown	Het
Dab2	T	C	15: 6,435,309	V414A	possibly damaging	Het
Dach2	T	C	X: 113,556,240		probably benign	Het
Fap	A	G	2: 62,503,355		probably benign	Het
Fgd5	T	A	6: 91,988,415	V385D	probably damaging	Het
Fmnl1	A	G	11: 103,197,182		probably null	Het
Gm8765	G	T	13: 50,703,164	C946F	possibly damaging	Het
Gorasp2	G	A	2: 70,682,992	G201D	probably damaging	Het
Gp2	T	A	7: 119,451,560	Q316L	probably damaging	Het
Gpx8	T	C	13: 113,043,162	I202V	probably damaging	Het
Gsta3	A	G	1: 21,264,949	K218R	probably benign	Het
Lama3	C	T	18: 12,553,283	T1195I	probably benign	Het
Map3k12	T	C	15: 102,502,079	R488G	possibly damaging	Het
Mapt	A	T	11: 104,282,433	Y18F	probably damaging	Het
Med21	T	C	6: 146,642,645	V12A	probably benign	Het
Mgat4b	A	G	11: 50,234,109	E457G	possibly damaging	Het
Mybl1	T	A	1: 9,672,555	K609N	probably damaging	Het
Ncaph2	T	G	15: 89,363,655	V75G	probably benign	Het
Neb	A	G	2: 52,178,037	Y5795H	probably benign	Het
Nup153	A	G	13: 46,700,983		probably null	Het
Olfr220	T	A	1: 174,448,869	I82N	probably damaging	Het
Olfr811	T	C	10: 129,802,471	D18G	probably damaging	Het
Plekhf2	G	T	4: 10,990,703	T213K	probably benign	Het
Plekho2	C	A	9: 65,559,494	G105W	probably damaging	Het
Rasgrf1	T	C	9: 90,010,451	I1068T	probably damaging	Het
Rnf213	A	T	11: 119,421,468	E907V	probably benign	Het
Runx1t1	C	T	4: 13,881,107	S469F	probably damaging	Het
Top1	A	T	2: 160,693,727	D182V	unknown	Het
Uckl1	T	C	2: 181,570,189	T375A	probably benign	Het
Usp53	A	T	3: 122,933,721		probably benign	Het
Vmn2r61	T	A	7: 42,260,093	I14N	probably benign	Het
Wbp4	A	T	14: 79,470,118	N184K	probably damaging	Het

Other mutations in Polr3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Polr3b	APN	10	84676990	missense	probably benign
IGL00848:Polr3b	APN	10	84680377	missense	probably damaging	1.00
IGL00901:Polr3b	APN	10	84631796	missense	possibly damaging	0.94
IGL01313:Polr3b	APN	10	84725743	missense	probably damaging	1.00
IGL01364:Polr3b	APN	10	84695669	missense	probably benign	0.00
IGL01731:Polr3b	APN	10	84631840	nonsense	probably null
IGL03326:Polr3b	APN	10	84667395	missense	probably benign	0.43
etruscan	UTSW	10	84632538	missense	probably benign	0.00
pennyweight	UTSW	10	84713632	missense	probably damaging	1.00
pinhead	UTSW	10	84655991	missense	probably damaging	1.00
G5538:Polr3b	UTSW	10	84631794	missense	probably benign	0.21
PIT4382001:Polr3b	UTSW	10	84684185	missense	probably damaging	1.00
R0180:Polr3b	UTSW	10	84622515	missense	probably benign
R0270:Polr3b	UTSW	10	84718475	missense	probably benign	0.02
R0541:Polr3b	UTSW	10	84638064	missense	probably damaging	1.00
R0890:Polr3b	UTSW	10	84714336	missense	probably benign	0.01
R1302:Polr3b	UTSW	10	84632486	missense	probably damaging	0.97
R1511:Polr3b	UTSW	10	84680385	missense	probably benign
R1561:Polr3b	UTSW	10	84634912	missense	probably damaging	1.00
R1607:Polr3b	UTSW	10	84652783	missense	probably benign	0.00
R1624:Polr3b	UTSW	10	84679805	missense	probably damaging	0.98
R1809:Polr3b	UTSW	10	84693001	missense	probably damaging	1.00
R1830:Polr3b	UTSW	10	84692922	nonsense	probably null
R2973:Polr3b	UTSW	10	84628280	missense	probably benign	0.00
R3401:Polr3b	UTSW	10	84699491	missense	probably damaging	0.96
R3876:Polr3b	UTSW	10	84720518	critical splice donor site	probably null
R3961:Polr3b	UTSW	10	84684302	missense	possibly damaging	0.89
R4664:Polr3b	UTSW	10	84714369	missense	probably damaging	1.00
R4721:Polr3b	UTSW	10	84656003	missense	possibly damaging	0.56
R4972:Polr3b	UTSW	10	84638124	missense	probably damaging	1.00
R5065:Polr3b	UTSW	10	84632538	missense	probably benign	0.00
R5264:Polr3b	UTSW	10	84667416	missense	probably benign	0.02
R5302:Polr3b	UTSW	10	84699400	missense	possibly damaging	0.59
R5795:Polr3b	UTSW	10	84628252	missense	probably benign
R5795:Polr3b	UTSW	10	84677011	missense	probably damaging	0.97
R5838:Polr3b	UTSW	10	84674590	missense	probably benign	0.09
R6419:Polr3b	UTSW	10	84638111	missense	possibly damaging	0.78
R6568:Polr3b	UTSW	10	84634903	missense	probably damaging	1.00
R6787:Polr3b	UTSW	10	84628625	critical splice acceptor site	probably null
R6913:Polr3b	UTSW	10	84713632	missense	probably damaging	1.00
R7405:Polr3b	UTSW	10	84684179	missense	probably benign
R7456:Polr3b	UTSW	10	84622491	missense	probably benign
R7657:Polr3b	UTSW	10	84655991	missense	probably damaging	1.00
R8074:Polr3b	UTSW	10	84713659	missense	probably damaging	1.00
R8082:Polr3b	UTSW	10	84656063	missense	probably damaging	1.00
R8127:Polr3b	UTSW	10	84679789	missense	probably benign
R8676:Polr3b	UTSW	10	84680387	missense	probably benign	0.00
R8744:Polr3b	UTSW	10	84628624	splice site	probably benign
R8797:Polr3b	UTSW	10	84697015	nonsense	probably null
R8866:Polr3b	UTSW	10	84695691	missense	probably benign	0.14
R9006:Polr3b	UTSW	10	84631833	missense	probably benign	0.05
R9397:Polr3b	UTSW	10	84631789	missense	possibly damaging	0.93
X0066:Polr3b	UTSW	10	84713695	missense	probably damaging	0.97
Z1177:Polr3b	UTSW	10	84714293	missense	probably damaging	1.00

Posted On

2016-08-02