Mutagenetix > Incidental Mutation

Incidental Mutation 'R8127:Polr3b'

631819

Institutional Source

Beutler Lab

Gene Symbol

Polr3b

Ensembl Gene

ENSMUSG00000034453

Gene Name

polymerase (RNA) III (DNA directed) polypeptide B

Synonyms

RPC2, A330032P03Rik, 2700078H01Rik

MMRRC Submission

067556-MU

Accession Numbers

Genbank: NM_027423

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84622292-84727178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84679789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 609 (K609E)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably benign
Transcript: ENSMUST00000077175
AA Change: K609E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: K609E

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

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 97.0%

Validation Efficiency

100% (45/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 145,043,439	M66T	possibly damaging	Het
Acvr1	A	T	2: 58,477,626	N174K	probably benign	Het
Ago1	A	T	4: 126,454,421	C342S	possibly damaging	Het
Anapc1	A	G	2: 128,632,627	S1423P	probably damaging	Het
Antxr2	A	T	5: 97,980,017	C218*	probably null	Het
Arsa	A	G	15: 89,474,864	Y200H	probably damaging	Het
Atad3a	C	T	4: 155,753,939	R207Q	probably damaging	Het
Carmil3	A	G	14: 55,498,244	D551G	probably damaging	Het
Cdk9	A	G	2: 32,707,997	I349T	probably benign	Het
Cmya5	A	T	13: 93,094,614	V1322E	probably damaging	Het
Col4a3	T	A	1: 82,649,760	I95K	unknown	Het
Dab2ip	T	C	2: 35,644,126		probably benign	Het
Dok7	A	G	5: 35,087,001	S530G	probably benign	Het
Dst	C	T	1: 34,178,229	T1250M	probably damaging	Het
Dzank1	A	C	2: 144,488,816	W439G	probably damaging	Het
Evx1	T	A	6: 52,313,917	S25T	possibly damaging	Het
Fut10	G	A	8: 31,194,971		probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Hyal5	C	A	6: 24,891,488	R434S	probably benign	Het
Lrrc43	C	T	5: 123,492,271	P66S	probably damaging	Het
Mib1	T	A	18: 10,741,031	I93N	probably damaging	Het
Mug2	G	A	6: 122,075,608	E1038K	probably benign	Het
Nsd2	T	A	5: 33,885,490	C1033S	probably damaging	Het
Olfr424	C	T	1: 174,137,589	P282S	probably damaging	Het
Olfr985	T	A	9: 40,127,064	H299L	probably benign	Het
Otogl	A	T	10: 107,895,752	F176Y	probably damaging	Het
Pih1d3	T	C	1: 31,223,120	F61S	probably benign	Het
Prdm15	T	C	16: 97,837,710	N50S	probably benign	Het
Rlf	G	T	4: 121,147,896	Q1406K	possibly damaging	Het
Rusc2	T	C	4: 43,423,747	V1023A	possibly damaging	Het
Scn11a	C	T	9: 119,804,512	G385D	probably damaging	Het
Slc44a1	T	C	4: 53,528,714	S155P	probably benign	Het
Spam1	T	A	6: 24,796,971	V307D	possibly damaging	Het
Srgap1	A	C	10: 121,855,366	M321R	probably null	Het
Stam	A	G	2: 14,117,473	I128V	probably damaging	Het
Sytl2	A	G	7: 90,375,590	D262G	possibly damaging	Het
Taf2	G	A	15: 55,059,988	R298C	probably damaging	Het
Tcl1b5	A	T	12: 105,180,003	T112S	probably benign	Het
Trim33	T	C	3: 103,331,727	S674P	possibly damaging	Het
Trip12	T	C	1: 84,738,742	N1602S	probably damaging	Het
Vmn1r44	T	C	6: 89,893,863	I197T	probably benign	Het
Wdtc1	C	T	4: 133,302,382		probably null	Het
Zfp583	G	T	7: 6,323,822		probably null	Het
Zfyve16	T	A	13: 92,505,677	I1213F	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
IGL03369:Polr3b	APN	10	84676952	missense	probably damaging	1.00
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
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
R9509:Polr3b	UTSW	10	84631786	missense	probably damaging	1.00
X0066:Polr3b	UTSW	10	84713695	missense	probably damaging	0.97
Z1177:Polr3b	UTSW	10	84714293	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACATGATCAGAGAGTGTGGTG -3'
(R):5'- ACTGGCTGCTGGTAAACTTG -3'

Sequencing Primer
(F):5'- GGAGAGAAAAAGACCCTACATTTTC -3'
(R):5'- CTGCTGGTAAACTTGGTAGAGAG -3'

Posted On

2020-06-30