Incidental Mutation 'R8872:Polr1b'
| ID |
676337 |
| 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 |
068743-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8872 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128957613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 556
(V556A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000103205]
|
| AlphaFold |
P70700 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028874
AA Change: V556A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: V556A
| 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: V556A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: V556A
| 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: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
99% (74/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
A |
G |
17: 48,401,164 (GRCm39) |
S150G |
possibly damaging |
Het |
| Alpk2 |
A |
T |
18: 65,413,977 (GRCm39) |
S1579R |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,791,525 (GRCm39) |
E814K |
possibly damaging |
Het |
| Cep57 |
A |
G |
9: 13,737,980 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 113,585,759 (GRCm39) |
R1127S |
possibly damaging |
Het |
| Comt |
C |
A |
16: 18,245,239 (GRCm39) |
|
probably benign |
Het |
| Crlf3 |
T |
C |
11: 79,938,440 (GRCm39) |
N399S |
|
Het |
| Crls1 |
T |
A |
2: 132,691,819 (GRCm39) |
S115T |
probably benign |
Het |
| Dixdc1 |
A |
G |
9: 50,614,453 (GRCm39) |
S199P |
possibly damaging |
Het |
| Dsc3 |
T |
C |
18: 20,122,679 (GRCm39) |
T82A |
probably benign |
Het |
| Efcab3 |
T |
G |
11: 104,760,880 (GRCm39) |
L2411R |
probably benign |
Het |
| Exosc6 |
T |
A |
8: 111,783,784 (GRCm39) |
V261E |
probably damaging |
Het |
| Fbxw17 |
C |
T |
13: 50,586,300 (GRCm39) |
S361L |
probably benign |
Het |
| Gfap |
T |
A |
11: 102,786,620 (GRCm39) |
N157Y |
possibly damaging |
Het |
| Gigyf2 |
A |
T |
1: 87,307,725 (GRCm39) |
D177V |
unknown |
Het |
| Gls2 |
A |
T |
10: 128,040,535 (GRCm39) |
Q312L |
probably benign |
Het |
| Gpr155 |
C |
T |
2: 73,197,936 (GRCm39) |
V395I |
probably benign |
Het |
| Greb1l |
A |
T |
18: 10,529,684 (GRCm39) |
M889L |
probably benign |
Het |
| Gucy1a1 |
T |
A |
3: 82,016,049 (GRCm39) |
D313V |
probably damaging |
Het |
| H2-T5 |
T |
A |
17: 36,476,293 (GRCm39) |
I324F |
probably benign |
Het |
| Herpud1 |
C |
T |
8: 95,113,213 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Il27 |
A |
C |
7: 126,190,194 (GRCm39) |
L140R |
probably damaging |
Het |
| Jarid2 |
T |
C |
13: 45,055,984 (GRCm39) |
S397P |
possibly damaging |
Het |
| Kdm5a |
A |
C |
6: 120,365,101 (GRCm39) |
D334A |
probably damaging |
Het |
| Lman2 |
T |
C |
13: 55,496,197 (GRCm39) |
T283A |
probably benign |
Het |
| Lrfn2 |
C |
T |
17: 49,378,277 (GRCm39) |
Q453* |
probably null |
Het |
| Lrrfip2 |
A |
G |
9: 111,034,824 (GRCm39) |
E171G |
possibly damaging |
Het |
| Mboat1 |
T |
A |
13: 30,410,397 (GRCm39) |
Y285N |
probably damaging |
Het |
| Med15 |
C |
A |
16: 17,470,605 (GRCm39) |
S734I |
probably damaging |
Het |
| Mgat4c |
T |
A |
10: 102,224,146 (GRCm39) |
I120N |
probably damaging |
Het |
| Ms4a4d |
T |
C |
19: 11,530,251 (GRCm39) |
M104T |
possibly damaging |
Het |
| Mtf2 |
A |
T |
5: 108,247,051 (GRCm39) |
M330L |
probably benign |
Het |
| Myoc |
T |
C |
1: 162,475,013 (GRCm39) |
V188A |
probably benign |
Het |
| Nos2 |
T |
A |
11: 78,839,949 (GRCm39) |
I686N |
probably damaging |
Het |
| Npffr1 |
T |
C |
10: 61,461,794 (GRCm39) |
V310A |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,308,627 (GRCm39) |
*1729W |
probably null |
Het |
| Odam |
A |
G |
5: 88,035,797 (GRCm39) |
|
probably null |
Het |
| Olfm4 |
G |
T |
14: 80,258,943 (GRCm39) |
R397L |
probably damaging |
Het |
| Or1p1c |
T |
G |
11: 74,160,120 (GRCm39) |
|
probably benign |
Het |
| Prl3d3 |
A |
G |
13: 27,346,324 (GRCm39) |
D186G |
possibly damaging |
Het |
| Psmc5 |
C |
A |
11: 106,152,746 (GRCm39) |
Y189* |
probably null |
Het |
| Rasgrp4 |
A |
G |
7: 28,838,521 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,658,633 (GRCm39) |
E929G |
probably benign |
Het |
| Scrn2 |
A |
T |
11: 96,922,961 (GRCm39) |
I135F |
probably damaging |
Het |
| Sec24d |
T |
A |
3: 123,148,585 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
T |
C |
2: 125,594,892 (GRCm39) |
T523A |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,333,326 (GRCm39) |
L1525P |
probably damaging |
Het |
| Slain1 |
T |
A |
14: 103,925,841 (GRCm39) |
|
probably null |
Het |
| Slc22a29 |
A |
G |
19: 8,137,931 (GRCm39) |
V548A |
probably damaging |
Het |
| Slc25a32 |
T |
C |
15: 38,969,339 (GRCm39) |
I65V |
probably benign |
Het |
| Slc30a7 |
A |
T |
3: 115,740,317 (GRCm39) |
M378K |
possibly damaging |
Het |
| Smarcd1 |
T |
A |
15: 99,608,975 (GRCm39) |
I383N |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,128,619 (GRCm39) |
S1464T |
probably benign |
Het |
| Spdye4b |
G |
T |
5: 143,187,815 (GRCm39) |
K156N |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,658,813 (GRCm39) |
Y1241H |
probably benign |
Het |
| Ssu2 |
G |
A |
6: 112,357,956 (GRCm39) |
T129I |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,411,544 (GRCm39) |
V613A |
probably benign |
Het |
| Sycp3 |
A |
T |
10: 88,302,388 (GRCm39) |
E126V |
probably damaging |
Het |
| Tatdn2 |
A |
T |
6: 113,681,170 (GRCm39) |
Y401F |
probably damaging |
Het |
| Tigd4 |
T |
C |
3: 84,501,547 (GRCm39) |
S155P |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,802,290 (GRCm39) |
N1502S |
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,870,644 (GRCm39) |
V143A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,618,747 (GRCm39) |
D16179V |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,401 (GRCm39) |
M666K |
probably benign |
Het |
| Vwa5b1 |
A |
T |
4: 138,305,956 (GRCm39) |
V914D |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,210,960 (GRCm39) |
M1632V |
probably benign |
Het |
| Zbtb26 |
T |
A |
2: 37,326,913 (GRCm39) |
N41I |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,020,412 (GRCm39) |
N144D |
probably damaging |
Het |
| Zfp266 |
A |
T |
9: 20,411,275 (GRCm39) |
C301S |
probably benign |
Het |
| Zfp580 |
A |
G |
7: 5,056,216 (GRCm39) |
H192R |
possibly damaging |
Het |
| Zfp748 |
A |
G |
13: 67,689,914 (GRCm39) |
C449R |
probably damaging |
Het |
| Zp2 |
T |
C |
7: 119,733,025 (GRCm39) |
I612V |
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 |
|
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 |
|
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'- CTTTAGGAATCCGCGTGTGC -3'
(R):5'- TGACCACTGTAGACATAACCAG -3'
Sequencing Primer
(F):5'- TCTCACAGGAGATGGGTGC -3'
(R):5'- GGACACTTCATCAACTAGGAAAGGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation