Mutagenetix > Incidental Mutation

Incidental Mutation 'R6568:Polr3b'

526168

Institutional Source

Beutler Lab

Gene Symbol

Polr3b

Ensembl Gene

ENSMUSG00000034453

Gene Name

polymerase (RNA) III (DNA directed) polypeptide B

Synonyms

2700078H01Rik, RPC2, A330032P03Rik

MMRRC Submission

044692-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6568 (G1)

Quality Score

177.009

Status

Not validated

Chromosome

Chromosomal Location

84458156-84563042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84470767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 136 (M136K)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably damaging
Transcript: ENSMUST00000077175
AA Change: M136K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: M136K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213543

Predicted Effect

probably benign
Transcript: ENSMUST00000215853

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	C	1: 138,779,872 (GRCm39)	K127E	possibly damaging	Het
Ash1l	G	A	3: 88,959,344 (GRCm39)	M2240I	probably benign	Het
Bhmt1b	A	T	18: 87,775,566 (GRCm39)	Y363F	probably benign	Het
Ccr5	G	A	9: 123,925,236 (GRCm39)	A280T	probably damaging	Het
Ceacam5	C	T	7: 17,479,416 (GRCm39)	L178F	probably damaging	Het
Col2a1	T	C	15: 97,875,157 (GRCm39)	N1259S	unknown	Het
Doc2b	A	C	11: 75,667,820 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,216,859 (GRCm39)	N2144D	probably damaging	Het
Hdac1-ps	A	G	17: 78,800,017 (GRCm39)	Y336C	probably damaging	Het
Ighv1-34	A	T	12: 114,815,231 (GRCm39)	W5R	probably benign	Het
Kdr	A	G	5: 76,122,434 (GRCm39)	V497A	probably benign	Het
Miip	T	A	4: 147,950,372 (GRCm39)	M75L	probably benign	Het
Mplkip	T	C	13: 17,870,262 (GRCm39)	S65P	probably damaging	Het
Ms4a13	A	G	19: 11,168,923 (GRCm39)	L34P	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nek1	T	C	8: 61,559,855 (GRCm39)	S896P	probably benign	Het
Or5ac17	A	T	16: 59,036,641 (GRCm39)	C112S	probably benign	Het
Rgsl1	A	C	1: 153,697,292 (GRCm39)	W508G	possibly damaging	Het
Ros1	A	T	10: 52,038,908 (GRCm39)	M354K	probably damaging	Het
Slc34a2	T	C	5: 53,226,476 (GRCm39)	L533P	probably damaging	Het
Taf2	G	A	15: 54,928,026 (GRCm39)	L126F	probably damaging	Het
Tlr12	T	C	4: 128,511,785 (GRCm39)	D155G	probably benign	Het
Trpm2	C	T	10: 77,773,660 (GRCm39)	R585Q	probably benign	Het
Zfp942	T	G	17: 22,148,043 (GRCm39)	K195N	probably benign	Het

Other mutations in Polr3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Polr3b	APN	10	84,512,854 (GRCm39)	missense	probably benign
IGL00848:Polr3b	APN	10	84,516,241 (GRCm39)	missense	probably damaging	1.00
IGL00901:Polr3b	APN	10	84,467,660 (GRCm39)	missense	possibly damaging	0.94
IGL01313:Polr3b	APN	10	84,561,607 (GRCm39)	missense	probably damaging	1.00
IGL01364:Polr3b	APN	10	84,531,533 (GRCm39)	missense	probably benign	0.00
IGL01731:Polr3b	APN	10	84,467,704 (GRCm39)	nonsense	probably null
IGL03326:Polr3b	APN	10	84,503,259 (GRCm39)	missense	probably benign	0.43
IGL03369:Polr3b	APN	10	84,512,816 (GRCm39)	missense	probably damaging	1.00
etruscan	UTSW	10	84,468,402 (GRCm39)	missense	probably benign	0.00
pennyweight	UTSW	10	84,549,496 (GRCm39)	missense	probably damaging	1.00
pinhead	UTSW	10	84,491,855 (GRCm39)	missense	probably damaging	1.00
G5538:Polr3b	UTSW	10	84,467,658 (GRCm39)	missense	probably benign	0.21
PIT4382001:Polr3b	UTSW	10	84,520,049 (GRCm39)	missense	probably damaging	1.00
R0180:Polr3b	UTSW	10	84,458,379 (GRCm39)	missense	probably benign
R0270:Polr3b	UTSW	10	84,554,339 (GRCm39)	missense	probably benign	0.02
R0541:Polr3b	UTSW	10	84,473,928 (GRCm39)	missense	probably damaging	1.00
R0890:Polr3b	UTSW	10	84,550,200 (GRCm39)	missense	probably benign	0.01
R1302:Polr3b	UTSW	10	84,468,350 (GRCm39)	missense	probably damaging	0.97
R1511:Polr3b	UTSW	10	84,516,249 (GRCm39)	missense	probably benign
R1561:Polr3b	UTSW	10	84,470,776 (GRCm39)	missense	probably damaging	1.00
R1607:Polr3b	UTSW	10	84,488,647 (GRCm39)	missense	probably benign	0.00
R1624:Polr3b	UTSW	10	84,515,669 (GRCm39)	missense	probably damaging	0.98
R1809:Polr3b	UTSW	10	84,528,865 (GRCm39)	missense	probably damaging	1.00
R1830:Polr3b	UTSW	10	84,528,786 (GRCm39)	nonsense	probably null
R2973:Polr3b	UTSW	10	84,464,144 (GRCm39)	missense	probably benign	0.00
R3401:Polr3b	UTSW	10	84,535,355 (GRCm39)	missense	probably damaging	0.96
R3876:Polr3b	UTSW	10	84,556,382 (GRCm39)	critical splice donor site	probably null
R3961:Polr3b	UTSW	10	84,520,166 (GRCm39)	missense	possibly damaging	0.89
R4664:Polr3b	UTSW	10	84,550,233 (GRCm39)	missense	probably damaging	1.00
R4721:Polr3b	UTSW	10	84,491,867 (GRCm39)	missense	possibly damaging	0.56
R4972:Polr3b	UTSW	10	84,473,988 (GRCm39)	missense	probably damaging	1.00
R5065:Polr3b	UTSW	10	84,468,402 (GRCm39)	missense	probably benign	0.00
R5264:Polr3b	UTSW	10	84,503,280 (GRCm39)	missense	probably benign	0.02
R5302:Polr3b	UTSW	10	84,535,264 (GRCm39)	missense	possibly damaging	0.59
R5795:Polr3b	UTSW	10	84,464,116 (GRCm39)	missense	probably benign
R5795:Polr3b	UTSW	10	84,512,875 (GRCm39)	missense	probably damaging	0.97
R5838:Polr3b	UTSW	10	84,510,454 (GRCm39)	missense	probably benign	0.09
R6419:Polr3b	UTSW	10	84,473,975 (GRCm39)	missense	possibly damaging	0.78
R6787:Polr3b	UTSW	10	84,464,489 (GRCm39)	critical splice acceptor site	probably null
R6913:Polr3b	UTSW	10	84,549,496 (GRCm39)	missense	probably damaging	1.00
R7405:Polr3b	UTSW	10	84,520,043 (GRCm39)	missense	probably benign
R7456:Polr3b	UTSW	10	84,458,355 (GRCm39)	missense	probably benign
R7657:Polr3b	UTSW	10	84,491,855 (GRCm39)	missense	probably damaging	1.00
R8074:Polr3b	UTSW	10	84,549,523 (GRCm39)	missense	probably damaging	1.00
R8082:Polr3b	UTSW	10	84,491,927 (GRCm39)	missense	probably damaging	1.00
R8127:Polr3b	UTSW	10	84,515,653 (GRCm39)	missense	probably benign
R8676:Polr3b	UTSW	10	84,516,251 (GRCm39)	missense	probably benign	0.00
R8744:Polr3b	UTSW	10	84,464,488 (GRCm39)	splice site	probably benign
R8797:Polr3b	UTSW	10	84,532,879 (GRCm39)	nonsense	probably null
R8866:Polr3b	UTSW	10	84,531,555 (GRCm39)	missense	probably benign	0.14
R9006:Polr3b	UTSW	10	84,467,697 (GRCm39)	missense	probably benign	0.05
R9397:Polr3b	UTSW	10	84,467,653 (GRCm39)	missense	possibly damaging	0.93
R9509:Polr3b	UTSW	10	84,467,650 (GRCm39)	missense	probably damaging	1.00
X0066:Polr3b	UTSW	10	84,549,559 (GRCm39)	missense	probably damaging	0.97
Z1177:Polr3b	UTSW	10	84,550,157 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCTGTCATCTGTGCCAG -3'
(R):5'- GTCATCAGAAGGCAGCAAGTC -3'

Sequencing Primer
(F):5'- GTCATCTGTGCCAGAAGATATATCTG -3'
(R):5'- GTCTACAGCAGAGCACTAGG -3'

Posted On

2018-06-22