Mutagenetix > Incidental Mutation

Incidental Mutation 'R6677:Polr1b'

527305

Institutional Source

Beutler Lab

Gene Symbol

Polr1b

Ensembl Gene

ENSMUSG00000027395

Gene Name

polymerase (RNA) I polypeptide B

Synonyms

Rpo1-2, RPA116, 128kDa, RPA2, D630020H17Rik

MMRRC Submission

044796-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6677 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128942915-128968514 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 128962131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028874] [ENSMUST00000103205]

AlphaFold

P70700

Predicted Effect

unknown
Transcript: ENSMUST00000028874
AA Change: Y718H

SMART Domains

Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: Y718H

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_Rpb2_1	37	437	4.6e-35	PFAM
Pfam:RNA_pol_Rpb2_2	186	375	8.9e-14	PFAM
Pfam:RNA_pol_Rpb2_3	455	521	1.4e-28	PFAM
Pfam:RNA_pol_Rpa2_4	563	621	3.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103205

SMART Domains

Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_Rpb2_1	37	423	1.7e-35	PFAM
Pfam:RNA_pol_Rpb2_2	186	375	3.2e-11	PFAM
Pfam:RNA_pol_Rpb2_3	455	520	2.1e-29	PFAM
Pfam:RNA_pol_Rpa2_4	563	621	4.1e-23	PFAM
Pfam:RNA_pol_Rpb2_6	670	1031	9.7e-118	PFAM
Pfam:RNA_pol_Rpb2_7	1033	1135	1.2e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147727

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (31/31)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality prior to implantation. [provided by MGI curators]

Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	G	T	8: 87,261,381 (GRCm39)	H713Q	possibly damaging	Het
Akap9	A	G	5: 4,079,869 (GRCm39)	T1874A	probably benign	Het
Atl1	A	G	12: 70,000,218 (GRCm39)	I289M	probably damaging	Het
Atp12a	A	G	14: 56,618,311 (GRCm39)	D654G	probably damaging	Het
Bbox1	C	A	2: 110,135,770 (GRCm39)	D70Y	probably damaging	Het
Blzf1	A	T	1: 164,130,181 (GRCm39)	V50D	possibly damaging	Het
Ccdc168	G	T	1: 44,097,859 (GRCm39)	R1080S	probably benign	Het
Cfap65	C	A	1: 74,943,844 (GRCm39)	D1556Y	probably damaging	Het
Chrm2	A	T	6: 36,501,027 (GRCm39)	N295Y	probably damaging	Het
Clca3b	T	A	3: 144,529,145 (GRCm39)	E843V	probably benign	Het
Enpp3	T	A	10: 24,653,855 (GRCm39)	N701Y	possibly damaging	Het
Fbxo30	G	T	10: 11,166,380 (GRCm39)	L367F	possibly damaging	Het
Gm4841	A	T	18: 60,403,652 (GRCm39)	F147Y	probably damaging	Het
Itprid2	A	G	2: 79,485,445 (GRCm39)	T500A	possibly damaging	Het
Lama1	G	A	17: 68,102,228 (GRCm39)	V1951I	probably benign	Het
Mgat4b	A	G	11: 50,123,898 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,899,444 (GRCm39)	V359A	probably benign	Het
Nhsl1	T	A	10: 18,401,610 (GRCm39)	D911E	probably damaging	Het
Or13a23-ps1	T	G	7: 140,118,465 (GRCm39)	F12V	probably damaging	Het
Qrfprl	A	T	6: 65,433,229 (GRCm39)	I350F	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Saxo2	T	C	7: 82,284,484 (GRCm39)	R125G	probably benign	Het
Scn8a	A	G	15: 100,866,953 (GRCm39)	D103G	probably damaging	Het
Sfxn2	A	T	19: 46,570,967 (GRCm39)	N9I	possibly damaging	Het
Shroom1	G	A	11: 53,354,343 (GRCm39)	A88T	possibly damaging	Het
Slc24a5	G	T	2: 124,922,615 (GRCm39)	A126S	possibly damaging	Het
Sult5a1	A	G	8: 123,876,017 (GRCm39)	F100L	probably benign	Het
Syne1	T	C	10: 4,990,942 (GRCm39)	Q579R	possibly damaging	Het
Vmn1r113	G	A	7: 20,521,903 (GRCm39)	G232S	probably benign	Het
Zic5	C	G	14: 122,702,566 (GRCm39)	R55P	unknown	Het

Other mutations in Polr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Polr1b	APN	2	128,967,829 (GRCm39)	missense	probably damaging	1.00
IGL00559:Polr1b	APN	2	128,955,651 (GRCm39)	missense	probably damaging	1.00
IGL00659:Polr1b	APN	2	128,960,020 (GRCm39)	critical splice donor site	probably null
IGL00672:Polr1b	APN	2	128,967,392 (GRCm39)	missense	probably damaging	1.00
IGL01066:Polr1b	APN	2	128,961,072 (GRCm39)	missense	probably damaging	1.00
IGL01536:Polr1b	APN	2	128,967,475 (GRCm39)	missense	probably benign	0.00
IGL01596:Polr1b	APN	2	128,952,046 (GRCm39)	missense	probably benign	0.38
IGL02156:Polr1b	APN	2	128,965,799 (GRCm39)	missense	probably benign	0.40
IGL02398:Polr1b	APN	2	128,944,886 (GRCm39)	missense	probably benign	0.03
IGL02797:Polr1b	APN	2	128,944,899 (GRCm39)	missense	probably damaging	0.99
IGL02965:Polr1b	APN	2	128,967,443 (GRCm39)	missense	probably benign	0.41
IGL03009:Polr1b	APN	2	128,967,988 (GRCm39)	missense	probably damaging	1.00
IGL03092:Polr1b	APN	2	128,965,049 (GRCm39)	missense	probably damaging	1.00
IGL03129:Polr1b	APN	2	128,957,627 (GRCm39)	missense	probably benign	0.00
IGL03138:Polr1b	UTSW	2	128,944,908 (GRCm39)	missense	probably benign	0.04
PIT4362001:Polr1b	UTSW	2	128,951,212 (GRCm39)	missense	possibly damaging	0.84
R0038:Polr1b	UTSW	2	128,957,588 (GRCm39)	nonsense	probably null
R0038:Polr1b	UTSW	2	128,957,588 (GRCm39)	nonsense	probably null
R0989:Polr1b	UTSW	2	128,967,997 (GRCm39)	missense	probably damaging	0.97
R1508:Polr1b	UTSW	2	128,955,654 (GRCm39)	missense	probably benign	0.24
R1539:Polr1b	UTSW	2	128,960,019 (GRCm39)	critical splice donor site	probably null
R1700:Polr1b	UTSW	2	128,965,041 (GRCm39)	missense	probably damaging	0.99
R1843:Polr1b	UTSW	2	128,944,886 (GRCm39)	missense	probably benign	0.03
R1920:Polr1b	UTSW	2	128,943,031 (GRCm39)	missense	probably benign	0.00
R2414:Polr1b	UTSW	2	128,945,054 (GRCm39)	splice site	probably benign
R3020:Polr1b	UTSW	2	128,957,601 (GRCm39)	missense	probably benign	0.01
R3837:Polr1b	UTSW	2	128,961,027 (GRCm39)	missense	possibly damaging	0.78
R4466:Polr1b	UTSW	2	128,965,802 (GRCm39)	missense	probably benign	0.03
R4773:Polr1b	UTSW	2	128,947,248 (GRCm39)	missense	probably benign	0.29
R4789:Polr1b	UTSW	2	128,951,257 (GRCm39)	missense	probably benign	0.00
R5027:Polr1b	UTSW	2	128,965,803 (GRCm39)	missense	possibly damaging	0.94
R5579:Polr1b	UTSW	2	128,952,028 (GRCm39)	missense	probably damaging	1.00
R5705:Polr1b	UTSW	2	128,947,271 (GRCm39)	nonsense	probably null
R6303:Polr1b	UTSW	2	128,957,682 (GRCm39)	missense	probably damaging	1.00
R6313:Polr1b	UTSW	2	128,967,366 (GRCm39)	missense	probably damaging	1.00
R6427:Polr1b	UTSW	2	128,965,181 (GRCm39)	missense	probably damaging	0.99
R7033:Polr1b	UTSW	2	128,957,562 (GRCm39)	missense	possibly damaging	0.82
R7163:Polr1b	UTSW	2	128,967,931 (GRCm39)	missense	probably benign	0.44
R7184:Polr1b	UTSW	2	128,965,842 (GRCm39)	missense	possibly damaging	0.94
R7376:Polr1b	UTSW	2	128,960,993 (GRCm39)	missense	probably benign	0.00
R7453:Polr1b	UTSW	2	128,967,583 (GRCm39)	missense	probably damaging	1.00
R7545:Polr1b	UTSW	2	128,959,766 (GRCm39)	splice site	probably null
R7770:Polr1b	UTSW	2	128,967,464 (GRCm39)	missense	probably damaging	1.00
R7772:Polr1b	UTSW	2	128,967,464 (GRCm39)	missense	probably damaging	1.00
R7774:Polr1b	UTSW	2	128,967,464 (GRCm39)	missense	probably damaging	1.00
R7776:Polr1b	UTSW	2	128,967,464 (GRCm39)	missense	probably damaging	1.00
R7777:Polr1b	UTSW	2	128,967,464 (GRCm39)	missense	probably damaging	1.00
R7814:Polr1b	UTSW	2	128,967,464 (GRCm39)	missense	probably damaging	1.00
R7825:Polr1b	UTSW	2	128,967,464 (GRCm39)	missense	probably damaging	1.00
R7826:Polr1b	UTSW	2	128,967,464 (GRCm39)	missense	probably damaging	1.00
R7827:Polr1b	UTSW	2	128,967,464 (GRCm39)	missense	probably damaging	1.00
R7828:Polr1b	UTSW	2	128,947,200 (GRCm39)	missense	probably damaging	1.00
R7959:Polr1b	UTSW	2	128,950,014 (GRCm39)	missense	probably damaging	1.00
R8082:Polr1b	UTSW	2	128,957,652 (GRCm39)	missense	probably benign	0.18
R8251:Polr1b	UTSW	2	128,965,086 (GRCm39)	missense	probably damaging	1.00
R8696:Polr1b	UTSW	2	128,967,571 (GRCm39)	missense	probably damaging	1.00
R8711:Polr1b	UTSW	2	128,943,064 (GRCm39)	missense	probably damaging	0.99
R8746:Polr1b	UTSW	2	128,954,597 (GRCm39)	missense	possibly damaging	0.70
R8823:Polr1b	UTSW	2	128,967,457 (GRCm39)	missense	probably damaging	1.00
R8872:Polr1b	UTSW	2	128,957,613 (GRCm39)	missense	probably damaging	1.00
R8901:Polr1b	UTSW	2	128,967,595 (GRCm39)	missense	probably damaging	1.00
R8963:Polr1b	UTSW	2	128,957,576 (GRCm39)	missense	probably benign
R9488:Polr1b	UTSW	2	128,967,417 (GRCm39)	missense	probably damaging	1.00
R9499:Polr1b	UTSW	2	128,957,684 (GRCm39)	nonsense	probably null
R9550:Polr1b	UTSW	2	128,962,205 (GRCm39)	missense	unknown
R9551:Polr1b	UTSW	2	128,957,684 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCGTCTGAGTCACGCTCTG -3'
(R):5'- CCTTGAAAATGCTCCAAAGTTGATC -3'

Sequencing Primer
(F):5'- GAGTCACGCTCTGAGCATTTGAC -3'
(R):5'- GTAGACCAGGCTGGCTTCAAATTC -3'

Posted On

2018-07-23