Mutagenetix > Incidental Mutation

Incidental Mutation 'R9509:Polr3b'

718019

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9509 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84458156-84563042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84467650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 77 (Y77D)

Ref Sequence

ENSEMBL: ENSMUSP00000076418 (fasta)

Gene Model

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

AlphaFold

P59470

Predicted Effect

probably damaging
Transcript: ENSMUST00000077175
AA Change: Y77D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: Y77D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 137,771,595 (GRCm39)		probably benign	Het
Acan	C	T	7: 78,740,768 (GRCm39)	P378L	probably damaging	Het
Akap6	A	G	12: 53,189,021 (GRCm39)	D2145G	probably damaging	Het
Akap9	A	T	5: 4,096,349 (GRCm39)	D2408V	probably benign	Het
Apol10a	C	A	15: 77,372,968 (GRCm39)	Y201*	probably null	Het
Arhgef4	T	C	1: 34,762,772 (GRCm39)	I676T	unknown	Het
Capn13	T	C	17: 73,644,446 (GRCm39)	H361R	probably benign	Het
Ccdc88a	G	A	11: 29,414,143 (GRCm39)	V894I	probably benign	Het
Chd4	T	A	6: 125,099,485 (GRCm39)	L1655Q	possibly damaging	Het
Chi3l1	G	A	1: 134,116,413 (GRCm39)	E307K	probably damaging	Het
Dhfr	T	A	13: 92,504,739 (GRCm39)	I139N	probably damaging	Het
Dock8	A	G	19: 25,072,985 (GRCm39)	S422G	probably benign	Het
Dspp	C	A	5: 104,325,657 (GRCm39)	D673E	unknown	Het
Dst	G	T	1: 33,947,465 (GRCm39)	W38L	possibly damaging	Het
Dynlt1b	A	T	17: 6,702,415 (GRCm39)	E26D	probably benign	Het
Dysf	A	T	6: 84,187,779 (GRCm39)	Y2059F	probably damaging	Het
Efcab5	G	A	11: 76,994,977 (GRCm39)	S1198F	possibly damaging	Het
Erp44	T	C	4: 48,208,750 (GRCm39)	I237V	probably benign	Het
Exosc2	G	A	2: 31,564,755 (GRCm39)	V107I	probably benign	Het
Fat2	A	G	11: 55,200,713 (GRCm39)	V787A	possibly damaging	Het
Fbn2	C	G	18: 58,247,550 (GRCm39)	G448A	probably benign	Het
Fbxw21	A	G	9: 108,977,217 (GRCm39)	V164A	possibly damaging	Het
Gabpa	G	A	16: 84,649,395 (GRCm39)	V201I	possibly damaging	Het
Gm12253	G	A	11: 58,330,771 (GRCm39)	V177M	probably benign	Het
Il2rb	C	A	15: 78,374,416 (GRCm39)	W84L	probably damaging	Het
Kank4	T	A	4: 98,663,104 (GRCm39)	T695S	possibly damaging	Het
Klhl29	T	C	12: 5,190,629 (GRCm39)	Q122R	probably damaging	Het
L3mbtl1	A	G	2: 162,809,303 (GRCm39)	E670G	probably damaging	Het
Lifr	A	G	15: 7,188,955 (GRCm39)	Y112C	probably damaging	Het
Lins1	C	T	7: 66,358,119 (GRCm39)	Q85*	probably null	Het
Lpcat1	T	A	13: 73,642,951 (GRCm39)	V175E	probably damaging	Het
Mdm1	T	C	10: 117,982,730 (GRCm39)	S122P	probably damaging	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Mylk4	T	C	13: 32,904,543 (GRCm39)	N197S	probably benign	Het
Neurl4	T	A	11: 69,792,971 (GRCm39)	L83*	probably null	Het
Nlrc3	T	C	16: 3,782,680 (GRCm39)	D259G	probably damaging	Het
Nsf	A	T	11: 103,754,074 (GRCm39)	D487E	probably benign	Het
Or2n1e	A	G	17: 38,586,281 (GRCm39)	I206M	probably benign	Het
Or2y1	A	G	11: 49,385,476 (GRCm39)	I39V	probably benign	Het
Or5p50	T	A	7: 107,422,440 (GRCm39)	T79S	probably benign	Het
Palb2	T	A	7: 121,727,399 (GRCm39)	K157M	probably damaging	Het
Pbrm1	T	C	14: 30,806,914 (GRCm39)	S1114P	probably damaging	Het
Pdia6	T	A	12: 17,330,989 (GRCm39)	M364K	probably damaging	Het
Pf4	G	T	5: 90,921,048 (GRCm39)	G83W	probably damaging	Het
Pibf1	T	C	14: 99,338,721 (GRCm39)	M79T	probably benign	Het
Pip4p2	T	A	4: 14,892,485 (GRCm39)	C116*	probably null	Het
Pomt2	T	A	12: 87,184,802 (GRCm39)	H208L	possibly damaging	Het
Pprc1	A	T	19: 46,051,838 (GRCm39)	K456M	unknown	Het
Rasgef1a	A	T	6: 118,061,391 (GRCm39)	K119*	probably null	Het
Rbbp6	T	A	7: 122,597,791 (GRCm39)	Y701N	unknown	Het
Relch	A	G	1: 105,614,704 (GRCm39)	E216G	probably damaging	Het
Reln	A	T	5: 22,549,198 (GRCm39)	V70E	possibly damaging	Het
Rgs17	T	C	10: 5,812,576 (GRCm39)	N41S	probably benign	Het
Rhbdf1	A	T	11: 32,165,055 (GRCm39)	I106N	possibly damaging	Het
Robo1	T	A	16: 72,759,167 (GRCm39)	N393K	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scart2	T	A	7: 139,879,644 (GRCm39)	Y1093*	probably null	Het
Scnn1a	A	T	6: 125,319,604 (GRCm39)	D495V	probably damaging	Het
Serpinf2	G	A	11: 75,328,895 (GRCm39)	P45L	probably benign	Het
Setdb1	A	C	3: 95,261,900 (GRCm39)	I122S	possibly damaging	Het
Slc4a9	A	T	18: 36,668,443 (GRCm39)	M701L	probably damaging	Het
Spata31h1	A	T	10: 82,132,229 (GRCm39)	N260K	probably benign	Het
Supv3l1	T	C	10: 62,265,411 (GRCm39)	T710A	probably benign	Het
Syne1	A	T	10: 5,298,927 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,766,292 (GRCm39)	Y743*	probably null	Het
Tgm2	A	T	2: 157,969,210 (GRCm39)	Y388*	probably null	Het
Tor3a	A	G	1: 156,483,499 (GRCm39)	S308P	possibly damaging	Het
Trim12a	T	C	7: 103,953,551 (GRCm39)	K187E	probably benign	Het
Trpc1	C	T	9: 95,625,249 (GRCm39)		probably null	Het
Uaca	C	T	9: 60,779,498 (GRCm39)	T1295M	possibly damaging	Het
Ush2a	T	A	1: 188,648,440 (GRCm39)	Y4682N	probably damaging	Het
Vldlr	A	G	19: 27,221,687 (GRCm39)	N684S	probably benign	Het
Vmn2r72	T	A	7: 85,404,075 (GRCm39)	I39L	probably benign	Het
Vps13b	A	T	15: 35,841,457 (GRCm39)	M2496L	possibly damaging	Het
Zbtb5	C	T	4: 44,994,332 (GRCm39)	V351M	probably damaging	Het
Zeb2	T	A	2: 44,887,876 (GRCm39)	T394S	possibly damaging	Het
Zfp352	A	G	4: 90,112,943 (GRCm39)	E361G	probably damaging	Het
Zfp54	C	A	17: 21,654,629 (GRCm39)	Y374*	probably null	Het
Zfp869	C	A	8: 70,159,596 (GRCm39)	G326W	probably damaging	Het
Zfyve28	C	T	5: 34,354,892 (GRCm39)	A806T	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
R6568:Polr3b	UTSW	10	84,470,767 (GRCm39)	missense	probably damaging	1.00
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
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'- GAGCATCATCCCACACTTGTAAGG -3'
(R):5'- TACAACAGGGTCTGAGATTTTCAAG -3'

Sequencing Primer
(F):5'- CCCACACTTGTAAGGTTCTATGAAC -3'
(R):5'- GGGACACTGGTCTAGTTACA -3'

Posted On

2022-07-18