Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03009:Polr1b'

407697

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 #

IGL03009

Quality Score

Status

Chromosome

Chromosomal Location

128942915-128968514 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128967988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1127 (N1127S)

Ref Sequence

ENSEMBL: ENSMUSP00000099494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035481] [ENSMUST00000103205]

AlphaFold

P70700

Predicted Effect

probably benign
Transcript: ENSMUST00000035481

SMART Domains

Protein: ENSMUSP00000044253
Gene: ENSMUSG00000037938

Domain	Start	End	E-Value	Type
PDB:2LQL\|A	1	110	2e-69	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000103205
AA Change: N1127S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: N1127S

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: ENSMUST00000137881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149118

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adsl	C	A	15: 80,836,444 (GRCm39)	S67*	probably null	Het
Arrdc4	A	G	7: 68,389,241 (GRCm39)	V411A	probably damaging	Het
Cnnm2	A	G	19: 46,865,794 (GRCm39)	Y794C	probably damaging	Het
Flt4	G	T	11: 49,517,951 (GRCm39)	K330N	probably benign	Het
Foxs1	T	C	2: 152,774,849 (GRCm39)	H68R	probably damaging	Het
Gm21969	C	T	4: 139,334,965 (GRCm39)	S333L	probably damaging	Het
Gm7008	T	A	12: 40,273,546 (GRCm39)		probably benign	Het
Gmppa	A	G	1: 75,416,014 (GRCm39)	Y137C	probably damaging	Het
Grwd1	A	G	7: 45,476,561 (GRCm39)		probably benign	Het
Kdm5a	C	T	6: 120,407,047 (GRCm39)	R1421W	probably damaging	Het
Myo5b	A	G	18: 74,894,039 (GRCm39)	T1749A	possibly damaging	Het
Neb	A	G	2: 52,069,468 (GRCm39)		probably benign	Het
Ntng1	T	C	3: 109,842,018 (GRCm39)	K252E	possibly damaging	Het
Nup133	A	G	8: 124,660,239 (GRCm39)	I353T	possibly damaging	Het
Or51ab3	C	A	7: 103,201,734 (GRCm39)	C247*	probably null	Het
Osbpl11	T	C	16: 33,062,100 (GRCm39)		probably benign	Het
Pcsk9	C	T	4: 106,311,542 (GRCm39)	G230S	probably damaging	Het
Rasgrf1	A	T	9: 89,873,756 (GRCm39)	K688N	possibly damaging	Het
Rhot1	A	G	11: 80,111,080 (GRCm39)		probably null	Het
Rims2	A	T	15: 39,430,393 (GRCm39)	Q1159L	possibly damaging	Het
Ros1	T	C	10: 52,022,003 (GRCm39)	I594V	probably benign	Het
Slc43a2	G	A	11: 75,463,202 (GRCm39)	C536Y	probably benign	Het
Stip1	A	T	19: 6,998,489 (GRCm39)	V537E	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Vav1	A	T	17: 57,603,582 (GRCm39)	T94S	probably benign	Het
Zfr	A	T	15: 12,162,321 (GRCm39)	I824F	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
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
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