Incidental Mutation 'R8251:Polr1b'
| ID |
640226 |
| 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 |
067677-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 128965086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 724
(P724Q)
|
| 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: P724Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: P724Q
| 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 |
100% (50/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
T |
9: 103,968,906 (GRCm39) |
D463V |
possibly damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,884 (GRCm39) |
R68Q |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,291,554 (GRCm39) |
M1293K |
possibly damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,854,221 (GRCm39) |
T1724A |
probably benign |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,916 (GRCm39) |
I295T |
probably damaging |
Het |
| Cacna1s |
G |
T |
1: 136,014,461 (GRCm39) |
G623W |
probably damaging |
Het |
| Cemip2 |
T |
C |
19: 21,784,765 (GRCm39) |
V416A |
possibly damaging |
Het |
| Cenpe |
T |
A |
3: 134,957,445 (GRCm39) |
|
probably null |
Het |
| Cep85l |
A |
T |
10: 53,157,450 (GRCm39) |
I751N |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,514,269 (GRCm39) |
D468V |
probably damaging |
Het |
| Ctsr |
A |
G |
13: 61,310,592 (GRCm39) |
V51A |
probably damaging |
Het |
| Dnah14 |
A |
C |
1: 181,492,430 (GRCm39) |
E1630A |
probably damaging |
Het |
| Dsg4 |
C |
A |
18: 20,604,221 (GRCm39) |
A896E |
probably damaging |
Het |
| Ear2 |
T |
C |
14: 44,340,477 (GRCm39) |
L45P |
probably benign |
Het |
| Fshr |
T |
G |
17: 89,507,913 (GRCm39) |
D43A |
probably benign |
Het |
| Gata6 |
G |
A |
18: 11,054,670 (GRCm39) |
G200S |
probably benign |
Het |
| Gnaq |
T |
A |
19: 16,312,419 (GRCm39) |
M227K |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,232 (GRCm39) |
Q75R |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
| Ints7 |
C |
T |
1: 191,353,545 (GRCm39) |
P957L |
unknown |
Het |
| Jmjd1c |
T |
C |
10: 67,075,068 (GRCm39) |
V73A |
noncoding transcript |
Het |
| Kansl1 |
A |
G |
11: 104,315,186 (GRCm39) |
I284T |
probably benign |
Het |
| Kcnj9 |
A |
G |
1: 172,154,089 (GRCm39) |
S12P |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,139,196 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
T |
6: 34,093,374 (GRCm39) |
T632S |
probably benign |
Het |
| Man2b1 |
G |
A |
8: 85,821,758 (GRCm39) |
V687M |
probably damaging |
Het |
| Mroh5 |
T |
C |
15: 73,655,002 (GRCm39) |
E653G |
probably benign |
Het |
| Nabp1 |
A |
T |
1: 51,516,737 (GRCm39) |
S44T |
probably benign |
Het |
| Nt5dc3 |
C |
A |
10: 86,656,091 (GRCm39) |
H256Q |
probably damaging |
Het |
| Or1j15 |
A |
C |
2: 36,459,467 (GRCm39) |
N286H |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,567 (GRCm39) |
I43N |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,646,353 (GRCm39) |
V720A |
probably benign |
Het |
| Pnpla6 |
T |
A |
8: 3,582,399 (GRCm39) |
N706K |
probably benign |
Het |
| Rbpjl |
A |
G |
2: 164,255,854 (GRCm39) |
E366G |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,846,947 (GRCm39) |
T244A |
possibly damaging |
Het |
| Slitrk3 |
C |
T |
3: 72,956,729 (GRCm39) |
R681H |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,330,128 (GRCm39) |
Y185C |
probably damaging |
Het |
| Snupn |
T |
A |
9: 56,888,137 (GRCm39) |
F231L |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,729,266 (GRCm39) |
P458S |
probably benign |
Het |
| St3gal5 |
T |
A |
6: 72,126,144 (GRCm39) |
F330I |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,922,962 (GRCm39) |
D878G |
possibly damaging |
Het |
| Tex44 |
A |
G |
1: 86,354,936 (GRCm39) |
N282D |
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,100,094 (GRCm39) |
I150V |
probably benign |
Het |
| Trbv21 |
A |
G |
6: 41,179,540 (GRCm39) |
|
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,215,186 (GRCm39) |
L116* |
probably null |
Het |
| Vps36 |
A |
G |
8: 22,682,932 (GRCm39) |
T16A |
probably benign |
Het |
| Wdr17 |
C |
A |
8: 55,110,267 (GRCm39) |
G837W |
probably damaging |
Het |
| Zfp397 |
T |
C |
18: 24,093,361 (GRCm39) |
V282A |
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 |
|
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'- TGCAGTTTTAGGAAGCACATTGAG -3'
(R):5'- AACAAATGTATTACGGCCGTG -3'
Sequencing Primer
(F):5'- TTTAGGAAGCACATTGAGAATTGAG -3'
(R):5'- GTGAGGACACACAAACATTCCTTCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation