Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03129:Polr1b'

410242

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr1b

Ensembl Gene

ENSMUSG00000027395

Gene Name

polymerase (RNA) I polypeptide B

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03129

Quality Score

Status

Chromosome

Chromosomal Location

128942915-128968514 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128957627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 561 (V561I)

Ref Sequence

ENSEMBL: ENSMUSP00000028874 (fasta)

Gene Model

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

AlphaFold

P70700

Predicted Effect

probably benign
Transcript: ENSMUST00000028874
AA Change: V561I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: V561I

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
AA Change: V561I

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

SMART Domains

Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: V561I

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

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,238 (GRCm39)	V403A	probably damaging	Het
Adpgk	T	C	9: 59,221,088 (GRCm39)	L298P	probably damaging	Het
Akap6	A	T	12: 53,187,089 (GRCm39)	D1501V	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Ankhd1	T	A	18: 36,791,061 (GRCm39)	Y2478*	probably null	Het
Col6a3	A	G	1: 90,749,584 (GRCm39)	Y417H	probably damaging	Het
Csmd1	A	G	8: 16,011,521 (GRCm39)	F2511L	probably damaging	Het
Dzip3	T	C	16: 48,762,446 (GRCm39)	M602V	possibly damaging	Het
Efna2	G	A	10: 80,024,346 (GRCm39)		probably null	Het
Fzd8	T	C	18: 9,214,270 (GRCm39)	S451P	probably damaging	Het
Galntl6	A	T	8: 58,880,750 (GRCm39)	D134E	probably damaging	Het
Grid2	T	C	6: 64,040,888 (GRCm39)	S277P	probably damaging	Het
Lcn2	A	G	2: 32,277,716 (GRCm39)	V91A	possibly damaging	Het
Lrp1b	G	A	2: 41,202,478 (GRCm39)		probably benign	Het
Lrrc7	T	A	3: 157,866,696 (GRCm39)	Y1015F	probably benign	Het
Mdn1	T	A	4: 32,729,994 (GRCm39)	C2779S	possibly damaging	Het
Nlrp10	A	T	7: 108,524,118 (GRCm39)	F454Y	probably damaging	Het
Obox5	T	A	7: 15,492,684 (GRCm39)	L213Q	probably damaging	Het
Or1o2	T	A	17: 37,543,087 (GRCm39)	Y58F	probably damaging	Het
Piezo2	T	C	18: 63,248,043 (GRCm39)	M486V	probably benign	Het
Plcg1	A	C	2: 160,616,446 (GRCm39)		probably null	Het
Polr3c	A	T	3: 96,626,770 (GRCm39)		probably benign	Het
Prkg1	T	A	19: 30,562,681 (GRCm39)	K523*	probably null	Het
Prss3l	T	C	6: 41,420,432 (GRCm39)	N98S	probably benign	Het
Sema3b	T	A	9: 107,476,995 (GRCm39)		probably benign	Het
Sp9	A	G	2: 73,103,865 (GRCm39)	T140A	probably benign	Het
Zfp507	T	C	7: 35,493,631 (GRCm39)	R471G	probably damaging	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
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
R6677:Polr1b	UTSW	2	128,962,131 (GRCm39)	intron	probably benign
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

Posted On

2016-08-02