Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03092:Polr1b'

418417

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 #

IGL03092

Quality Score

Status

Chromosome

Chromosomal Location

129100995-129126594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129123129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 712 (Y712H)

Ref Sequence

ENSEMBL: ENSMUSP00000099494 (fasta)

Gene Model

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

AlphaFold

P70700

Predicted Effect

probably benign
Transcript: ENSMUST00000028874

SMART Domains

Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395

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 damaging
Transcript: ENSMUST00000103205
AA Change: Y712H

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

SMART Domains

Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: Y712H

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,406,470	L491P	probably damaging	Het
5430419D17Rik	G	T	7: 131,201,798		probably null	Het
Abcc6	T	A	7: 45,986,470	D1051V	probably damaging	Het
Aqr	T	A	2: 114,158,943	E133V	probably benign	Het
Bag6	A	G	17: 35,145,627	N911D	probably damaging	Het
BC024978	T	C	7: 27,201,136	M180T	probably damaging	Het
Ces4a	C	T	8: 105,148,204		probably benign	Het
Clec3b	A	T	9: 123,151,035		probably benign	Het
Cnot1	T	C	8: 95,769,615		probably benign	Het
Ctsg	T	A	14: 56,099,960	*262L	probably null	Het
Cyp17a1	T	A	19: 46,672,611	H78L	possibly damaging	Het
Dcaf13	C	A	15: 39,127,976		probably benign	Het
Dcun1d1	G	T	3: 35,920,992	Q52K	possibly damaging	Het
Ddb1	C	T	19: 10,612,945	R279W	probably damaging	Het
Dock1	A	G	7: 134,765,216		probably benign	Het
Dsel	A	G	1: 111,860,063	L914P	probably damaging	Het
Fbxo31	A	G	8: 121,560,018	F174L	probably benign	Het
Gm9116	A	G	3: 93,910,206		noncoding transcript	Het
Gspt1	C	T	16: 11,238,899	V211I	probably benign	Het
Hmgb1	A	T	5: 149,050,698	S14T	probably benign	Het
Igsf8	A	G	1: 172,312,529		probably benign	Het
Klf13	A	G	7: 63,891,669	F237L	probably damaging	Het
Mon2	A	T	10: 123,018,100	I962N	probably damaging	Het
Nfx1	A	G	4: 41,024,851	D1108G	probably damaging	Het
Nr2e1	T	C	10: 42,571,482	Y178C	probably damaging	Het
Olfr1426	C	A	19: 12,087,866	E309*	probably null	Het
Olfr646	A	T	7: 104,106,647	I123F	probably damaging	Het
Pde3b	A	T	7: 114,523,348	H717L	probably damaging	Het
Pramef25	C	A	4: 143,950,197	K112N	probably damaging	Het
Rnf157	T	A	11: 116,347,969		probably null	Het
Ros1	T	C	10: 52,098,806	E1561G	probably damaging	Het
Serpina6	A	G	12: 103,653,895		probably null	Het
St18	A	G	1: 6,768,894		probably benign	Het
Ugp2	A	G	11: 21,329,722		probably benign	Het
Vmn1r70	T	C	7: 10,634,259	S225P	probably benign	Het
Zfp641	T	C	15: 98,290,516	D161G	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
IGL03129:Polr1b	APN	2	129115707	missense	probably benign	0.00
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
R9488:Polr1b	UTSW	2	129125497	missense	probably damaging	1.00
R9499:Polr1b	UTSW	2	129115764	nonsense	probably null
R9550:Polr1b	UTSW	2	129120285	missense	unknown
R9551:Polr1b	UTSW	2	129115764	nonsense	probably null

Posted On

2016-08-02