Mutagenetix > Incidental Mutations

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

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

Accession Numbers

Ncbi RefSeq: NM_009086.2; MGI:108014

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03129

Quality Score

Status

Chromosome

Chromosomal Location

129100995-129126594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129115707 bp

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]

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

Strain: 3774130
Lethality: E2-E4
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: 99,229,379	V403A	probably damaging	Het
Adpgk	T	C	9: 59,313,805	L298P	probably damaging	Het
Akap6	A	T	12: 53,140,306	D1501V	probably damaging	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Ankhd1	T	A	18: 36,658,008	Y2478*	probably null	Het
Col6a3	A	G	1: 90,821,862	Y417H	probably damaging	Het
Csmd1	A	G	8: 15,961,521	F2511L	probably damaging	Het
Dzip3	T	C	16: 48,942,083	M602V	possibly damaging	Het
Efna2	G	A	10: 80,188,512		probably null	Het
Fzd8	T	C	18: 9,214,270	S451P	probably damaging	Het
Galntl6	A	T	8: 58,427,716	D134E	probably damaging	Het
Gm10334	T	C	6: 41,443,498	N98S	probably benign	Het
Grid2	T	C	6: 64,063,904	S277P	probably damaging	Het
Lcn2	A	G	2: 32,387,704	V91A	possibly damaging	Het
Lrp1b	G	A	2: 41,312,466		probably benign	Het
Lrrc7	T	A	3: 158,161,059	Y1015F	probably benign	Het
Mdn1	T	A	4: 32,729,994	C2779S	possibly damaging	Het
Nlrp10	A	T	7: 108,924,911	F454Y	probably damaging	Het
Obox5	T	A	7: 15,758,759	L213Q	probably damaging	Het
Olfr97	T	A	17: 37,232,196	Y58F	probably damaging	Het
Piezo2	T	C	18: 63,114,972	M486V	probably benign	Het
Plcg1	A	C	2: 160,774,526		probably null	Het
Polr3c	A	T	3: 96,719,454		probably benign	Het
Prkg1	T	A	19: 30,585,281	K523*	probably null	Het
Sema3b	T	A	9: 107,599,796		probably benign	Het
Sp9	A	G	2: 73,273,521	T140A	probably benign	Het
Zfp507	T	C	7: 35,794,206	R471G	probably damaging	Het

Other mutations in Polr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Polr1b	APN	2	129125909	missense	probably damaging	1.00
IGL00559:Polr1b	APN	2	129113731	missense	probably damaging	1.00
IGL00659:Polr1b	APN	2	129118100	critical splice donor site	probably null
IGL00672:Polr1b	APN	2	129125472	missense	probably damaging	1.00
IGL01066:Polr1b	APN	2	129119152	missense	probably damaging	1.00
IGL01536:Polr1b	APN	2	129125555	missense	probably benign	0.00
IGL01596:Polr1b	APN	2	129110126	missense	probably benign	0.38
IGL02156:Polr1b	APN	2	129123879	missense	probably benign	0.40
IGL02398:Polr1b	APN	2	129102966	missense	probably benign	0.03
IGL02797:Polr1b	APN	2	129102979	missense	probably damaging	0.99
IGL02965:Polr1b	APN	2	129125523	missense	probably benign	0.41
IGL03009:Polr1b	APN	2	129126068	missense	probably damaging	1.00
IGL03092:Polr1b	APN	2	129123129	missense	probably damaging	1.00
IGL03138:Polr1b	UTSW	2	129102988	missense	probably benign	0.04
PIT4362001:Polr1b	UTSW	2	129109292	missense	possibly damaging	0.84
R0038:Polr1b	UTSW	2	129115668	nonsense	probably null
R0038:Polr1b	UTSW	2	129115668	nonsense	probably null
R0989:Polr1b	UTSW	2	129126077	missense	probably damaging	0.97
R1508:Polr1b	UTSW	2	129113734	missense	probably benign	0.24
R1539:Polr1b	UTSW	2	129118099	critical splice donor site	probably null
R1700:Polr1b	UTSW	2	129123121	missense	probably damaging	0.99
R1843:Polr1b	UTSW	2	129102966	missense	probably benign	0.03
R1920:Polr1b	UTSW	2	129101111	missense	probably benign	0.00
R2414:Polr1b	UTSW	2	129103134	splice site	probably benign
R3020:Polr1b	UTSW	2	129115681	missense	probably benign	0.01
R3837:Polr1b	UTSW	2	129119107	missense	possibly damaging	0.78
R4466:Polr1b	UTSW	2	129123882	missense	probably benign	0.03
R4773:Polr1b	UTSW	2	129105328	missense	probably benign	0.29
R4789:Polr1b	UTSW	2	129109337	missense	probably benign	0.00
R5027:Polr1b	UTSW	2	129123883	missense	possibly damaging	0.94
R5579:Polr1b	UTSW	2	129110108	missense	probably damaging	1.00
R5705:Polr1b	UTSW	2	129105351	nonsense	probably null
R6303:Polr1b	UTSW	2	129115762	missense	probably damaging	1.00
R6313:Polr1b	UTSW	2	129125446	missense	probably damaging	1.00
R6427:Polr1b	UTSW	2	129123261	missense	probably damaging	0.99
R6677:Polr1b	UTSW	2	129120211	intron	probably benign
R7033:Polr1b	UTSW	2	129115642	missense	possibly damaging	0.82
R7163:Polr1b	UTSW	2	129126011	missense	probably benign	0.44
R7184:Polr1b	UTSW	2	129123922	missense	possibly damaging	0.94
R7376:Polr1b	UTSW	2	129119073	missense	probably benign	0.00
R7453:Polr1b	UTSW	2	129125663	missense	probably damaging	1.00
R7545:Polr1b	UTSW	2	129117846	splice site	probably null
R7770:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7772:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7774:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7776:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7777:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7814:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7825:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7826:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7827:Polr1b	UTSW	2	129125544	missense	probably damaging	1.00
R7828:Polr1b	UTSW	2	129105280	missense	probably damaging	1.00
R7959:Polr1b	UTSW	2	129108094	missense	probably damaging	1.00
R8082:Polr1b	UTSW	2	129115732	missense	probably benign	0.18
R8251:Polr1b	UTSW	2	129123166	missense	probably damaging	1.00
R8696:Polr1b	UTSW	2	129125651	missense	probably damaging	1.00
R8711:Polr1b	UTSW	2	129101144	missense	probably damaging	0.99
R8746:Polr1b	UTSW	2	129112677	missense	possibly damaging	0.70
R8823:Polr1b	UTSW	2	129125537	missense	probably damaging	1.00
R8872:Polr1b	UTSW	2	129115693	missense	probably damaging	1.00
R8901:Polr1b	UTSW	2	129125675	missense	probably damaging	1.00
R8963:Polr1b	UTSW	2	129115656	missense	probably benign

Posted On

2016-08-02