Incidental Mutation 'R7163:Polr1b'
ID |
557711 |
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 |
045330-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7163 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128967931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1108
(D1108G)
|
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 benign
Transcript: ENSMUST00000103205
AA Change: D1108G
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099494 Gene: ENSMUSG00000027395 AA Change: D1108G
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
A |
G |
9: 53,319,372 (GRCm39) |
K4R |
possibly damaging |
Het |
A830018L16Rik |
G |
A |
1: 11,484,848 (GRCm39) |
G19D |
probably damaging |
Het |
Abca3 |
A |
T |
17: 24,583,916 (GRCm39) |
M102L |
probably benign |
Het |
Adam19 |
A |
T |
11: 46,022,544 (GRCm39) |
Y499F |
probably benign |
Het |
Adck2 |
T |
C |
6: 39,560,797 (GRCm39) |
V444A |
probably damaging |
Het |
Adck5 |
T |
C |
15: 76,478,016 (GRCm39) |
V214A |
probably damaging |
Het |
Agrn |
G |
A |
4: 156,262,966 (GRCm39) |
T437M |
probably damaging |
Het |
Aox3 |
A |
T |
1: 58,158,671 (GRCm39) |
I81F |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
Blmh |
A |
G |
11: 76,836,987 (GRCm39) |
Y23C |
unknown |
Het |
Cacnb1 |
A |
G |
11: 97,903,726 (GRCm39) |
V109A |
probably benign |
Het |
Ccdc27 |
C |
T |
4: 154,117,282 (GRCm39) |
R555H |
not run |
Het |
Cep170 |
A |
C |
1: 176,602,031 (GRCm39) |
S358R |
probably damaging |
Het |
Cfap46 |
A |
T |
7: 139,197,994 (GRCm39) |
|
probably null |
Het |
Dclk1 |
G |
T |
3: 55,163,549 (GRCm39) |
E214* |
probably null |
Het |
Dhrs1 |
A |
G |
14: 55,976,838 (GRCm39) |
L282P |
probably benign |
Het |
Dlgap5 |
A |
G |
14: 47,637,095 (GRCm39) |
L461P |
probably damaging |
Het |
Elp2 |
G |
T |
18: 24,747,503 (GRCm39) |
C185F |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,832,892 (GRCm39) |
|
probably benign |
Het |
Fga |
T |
C |
3: 82,933,571 (GRCm39) |
V17A |
probably benign |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Gm43302 |
T |
A |
5: 105,441,493 (GRCm39) |
|
probably null |
Het |
Gpatch8 |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
11: 102,371,014 (GRCm39) |
|
probably benign |
Het |
Hcn1 |
A |
T |
13: 118,062,083 (GRCm39) |
I450L |
unknown |
Het |
Hydin |
T |
A |
8: 111,329,968 (GRCm39) |
C4901S |
probably benign |
Het |
Ino80 |
A |
T |
2: 119,223,356 (GRCm39) |
I1186N |
probably damaging |
Het |
Ints7 |
T |
A |
1: 191,349,949 (GRCm39) |
I781N |
possibly damaging |
Het |
Irf2 |
T |
A |
8: 47,290,712 (GRCm39) |
V178E |
possibly damaging |
Het |
Iws1 |
T |
A |
18: 32,226,277 (GRCm39) |
S722T |
possibly damaging |
Het |
Jak1 |
G |
A |
4: 101,032,385 (GRCm39) |
S407F |
probably damaging |
Het |
Kdm3a |
G |
T |
6: 71,609,061 (GRCm39) |
D55E |
probably damaging |
Het |
Kdm5d |
T |
C |
Y: 899,940 (GRCm39) |
S169P |
probably damaging |
Het |
Kif15 |
A |
G |
9: 122,846,722 (GRCm39) |
N1348S |
probably damaging |
Het |
Kpna7 |
G |
A |
5: 144,939,206 (GRCm39) |
P187L |
unknown |
Het |
Krt35 |
A |
T |
11: 99,986,984 (GRCm39) |
F10Y |
probably damaging |
Het |
Lemd1 |
G |
T |
1: 132,184,475 (GRCm39) |
V131F |
probably benign |
Het |
Mcf2l |
G |
A |
8: 12,965,439 (GRCm39) |
R4H |
probably benign |
Het |
Megf6 |
C |
T |
4: 154,351,898 (GRCm39) |
R1166C |
probably damaging |
Het |
Mmp11 |
T |
C |
10: 75,762,410 (GRCm39) |
I308V |
possibly damaging |
Het |
Mrgpra4 |
A |
G |
7: 47,631,238 (GRCm39) |
V121A |
probably benign |
Het |
Myl2 |
T |
A |
5: 122,239,885 (GRCm39) |
I26N |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,389,195 (GRCm39) |
M862V |
|
Het |
Nckap5l |
T |
C |
15: 99,331,354 (GRCm39) |
H64R |
probably damaging |
Het |
Nipsnap2 |
A |
C |
5: 129,821,774 (GRCm39) |
E90A |
probably benign |
Het |
Nup210 |
G |
T |
6: 91,050,313 (GRCm39) |
N385K |
probably damaging |
Het |
Or2h2 |
T |
C |
17: 37,396,937 (GRCm39) |
N40S |
probably damaging |
Het |
Or2t48 |
C |
A |
11: 58,419,994 (GRCm39) |
E273* |
probably null |
Het |
Or5m11b |
T |
A |
2: 85,805,932 (GRCm39) |
L115Q |
probably damaging |
Het |
Or8c19-ps1 |
T |
C |
9: 38,220,345 (GRCm39) |
F85L |
probably damaging |
Het |
Or9e1 |
T |
C |
11: 58,732,012 (GRCm39) |
V24A |
probably benign |
Het |
Pcmt1 |
A |
T |
10: 7,513,922 (GRCm39) |
M249K |
probably benign |
Het |
Pde3a |
T |
C |
6: 141,433,270 (GRCm39) |
L767P |
probably damaging |
Het |
Pde8a |
T |
C |
7: 80,956,456 (GRCm39) |
V285A |
possibly damaging |
Het |
Pla2g4a |
T |
A |
1: 149,716,416 (GRCm39) |
K690* |
probably null |
Het |
Plxna4 |
T |
C |
6: 32,473,691 (GRCm39) |
H442R |
probably benign |
Het |
Prkn |
G |
A |
17: 12,280,434 (GRCm39) |
C430Y |
probably damaging |
Het |
Sec23ip |
T |
C |
7: 128,364,257 (GRCm39) |
|
probably null |
Het |
Slc24a3 |
A |
G |
2: 145,086,911 (GRCm39) |
D57G |
probably benign |
Het |
Sprtn |
T |
G |
8: 125,625,044 (GRCm39) |
F50V |
probably damaging |
Het |
Srr |
A |
G |
11: 74,803,828 (GRCm39) |
F43S |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,262,727 (GRCm39) |
F17L |
possibly damaging |
Het |
Taar1 |
G |
T |
10: 23,796,918 (GRCm39) |
M205I |
probably benign |
Het |
Tas2r143 |
A |
G |
6: 42,377,202 (GRCm39) |
I11V |
probably benign |
Het |
Tlx1 |
T |
C |
19: 45,139,655 (GRCm39) |
S101P |
probably damaging |
Het |
Tmeff2 |
T |
C |
1: 50,977,503 (GRCm39) |
|
probably null |
Het |
Vhl |
A |
G |
6: 113,606,451 (GRCm39) |
D156G |
possibly damaging |
Het |
Washc4 |
T |
A |
10: 83,426,897 (GRCm39) |
D1068E |
probably damaging |
Het |
Zfp513 |
A |
G |
5: 31,358,076 (GRCm39) |
V101A |
probably benign |
Het |
Zfp82 |
T |
C |
7: 29,761,669 (GRCm39) |
R71G |
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 |
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 |
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'- TCAGGGTGGAATCCGCTTTG -3'
(R):5'- TGTATAGACCCAGAGTGAGCCC -3'
Sequencing Primer
(F):5'- ATGCTCTGTTGGCACACG -3'
(R):5'- GTGAGCCCATAATACCCTCACTTG -3'
|
Posted On |
2019-06-26 |