Incidental Mutation 'R5705:Polr1b'
ID |
451902 |
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 |
043330-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5705 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 128947271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 199
(K199*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000103205]
|
AlphaFold |
P70700 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028874
AA Change: K199*
|
SMART Domains |
Protein: ENSMUSP00000028874 Gene: ENSMUSG00000027395 AA Change: K199*
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 null
Transcript: ENSMUST00000103205
AA Change: K199*
|
SMART Domains |
Protein: ENSMUSP00000099494 Gene: ENSMUSG00000027395 AA Change: K199*
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,851,276 (GRCm39) |
V2163A |
probably benign |
Het |
Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,342,587 (GRCm39) |
I519V |
probably benign |
Het |
Arhgap4 |
G |
A |
X: 72,950,423 (GRCm39) |
R43W |
probably damaging |
Het |
Aurkb |
T |
A |
11: 68,939,641 (GRCm39) |
L213I |
possibly damaging |
Het |
Bod1l |
T |
A |
5: 41,974,345 (GRCm39) |
Q2323L |
probably benign |
Het |
Calhm5 |
A |
T |
10: 33,971,989 (GRCm39) |
C149S |
probably damaging |
Het |
Ccdc17 |
C |
T |
4: 116,454,066 (GRCm39) |
T28I |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,871,086 (GRCm39) |
E630G |
probably damaging |
Het |
Cnih4 |
A |
G |
1: 180,981,300 (GRCm39) |
I24V |
probably benign |
Het |
Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
Ctsr |
A |
G |
13: 61,309,078 (GRCm39) |
F226L |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,638,640 (GRCm39) |
N49D |
probably benign |
Het |
Defb23 |
C |
T |
2: 152,301,204 (GRCm39) |
A123T |
probably benign |
Het |
Dtx2 |
C |
A |
5: 136,039,149 (GRCm39) |
D69E |
probably damaging |
Het |
Eps8l1 |
T |
C |
7: 4,473,034 (GRCm39) |
V91A |
probably benign |
Het |
Eps8l3 |
C |
A |
3: 107,798,580 (GRCm39) |
Q489K |
probably benign |
Het |
Esyt3 |
A |
G |
9: 99,200,260 (GRCm39) |
S645P |
probably benign |
Het |
Fam161a |
T |
A |
11: 22,978,869 (GRCm39) |
M472K |
unknown |
Het |
Glp2r |
A |
G |
11: 67,600,565 (GRCm39) |
V428A |
probably benign |
Het |
Gnl1 |
G |
A |
17: 36,292,492 (GRCm39) |
V191I |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,059,319 (GRCm39) |
I234M |
probably benign |
Het |
Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
Hs3st2 |
T |
C |
7: 120,992,305 (GRCm39) |
L85P |
probably damaging |
Het |
Igsf9 |
T |
C |
1: 172,322,338 (GRCm39) |
V511A |
possibly damaging |
Het |
Insyn2b |
A |
G |
11: 34,354,349 (GRCm39) |
Y473C |
probably damaging |
Het |
Kcnma1 |
A |
T |
14: 24,053,839 (GRCm39) |
C54S |
possibly damaging |
Het |
Klhdc4 |
A |
G |
8: 122,531,732 (GRCm39) |
V181A |
probably benign |
Het |
Ldb3 |
T |
C |
14: 34,298,986 (GRCm39) |
M213V |
probably null |
Het |
Mertk |
C |
A |
2: 128,613,321 (GRCm39) |
Q446K |
probably benign |
Het |
Ndufs1 |
A |
G |
1: 63,186,317 (GRCm39) |
V46A |
probably benign |
Het |
Neurod4 |
A |
G |
10: 130,107,271 (GRCm39) |
M1T |
probably null |
Het |
Nlrc5 |
T |
A |
8: 95,202,385 (GRCm39) |
C162S |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,159,076 (GRCm39) |
I785T |
possibly damaging |
Het |
Pcmt1 |
T |
C |
10: 7,513,954 (GRCm39) |
I224M |
possibly damaging |
Het |
Pisd |
C |
T |
5: 32,894,707 (GRCm39) |
R533H |
probably benign |
Het |
Plcxd3 |
C |
A |
15: 4,546,676 (GRCm39) |
Q227K |
probably benign |
Het |
Ppp1r10 |
T |
C |
17: 36,240,381 (GRCm39) |
V557A |
probably damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,291,193 (GRCm39) |
Y248H |
probably damaging |
Het |
Rsrp1 |
T |
C |
4: 134,651,331 (GRCm39) |
S32P |
unknown |
Het |
Setdb2 |
T |
G |
14: 59,660,814 (GRCm39) |
S110R |
possibly damaging |
Het |
Srcin1 |
A |
G |
11: 97,439,777 (GRCm39) |
C152R |
probably benign |
Het |
Syk |
A |
G |
13: 52,765,083 (GRCm39) |
N70S |
probably benign |
Het |
Tlr4 |
T |
A |
4: 66,752,217 (GRCm39) |
D59E |
probably damaging |
Het |
Tm9sf4 |
T |
A |
2: 153,024,378 (GRCm39) |
I67N |
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,784 (GRCm39) |
Y24F |
probably damaging |
Het |
Tsga13 |
A |
G |
6: 30,876,951 (GRCm39) |
S189P |
probably damaging |
Het |
Tspan33 |
A |
G |
6: 29,717,232 (GRCm39) |
D210G |
probably benign |
Het |
Use1 |
G |
T |
8: 71,822,331 (GRCm39) |
R278L |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,767,423 (GRCm39) |
N403D |
probably damaging |
Het |
Zfp263 |
C |
T |
16: 3,564,318 (GRCm39) |
P203S |
probably benign |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTTACCCTGGAGCTTGTTC -3'
(R):5'- GTTTACACATGGATCAACACTCCC -3'
Sequencing Primer
(F):5'- TCTGTTTCCAGAGCCCGG -3'
(R):5'- CCTGAACATCATAGAAGTGC -3'
|
Posted On |
2017-01-03 |