Incidental Mutation 'R7545:Polr1b'
ID |
585983 |
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 |
045650-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7545 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 128959766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000103205]
|
AlphaFold |
P70700 |
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000103205
|
SMART Domains |
Protein: ENSMUSP00000099494 Gene: ENSMUSG00000027395
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
T |
C |
5: 107,696,040 (GRCm39) |
Y159H |
probably damaging |
Het |
A1cf |
A |
T |
19: 31,912,190 (GRCm39) |
N435I |
possibly damaging |
Het |
Aasdh |
A |
T |
5: 77,027,861 (GRCm39) |
F849I |
probably damaging |
Het |
Aatf |
A |
T |
11: 84,361,502 (GRCm39) |
M367K |
probably benign |
Het |
Acnat1 |
A |
T |
4: 49,449,142 (GRCm39) |
L208* |
probably null |
Het |
Adam26b |
C |
T |
8: 43,974,750 (GRCm39) |
G84D |
probably damaging |
Het |
Adamtsl1 |
A |
T |
4: 85,683,092 (GRCm39) |
E54D |
probably damaging |
Het |
Ang6 |
T |
G |
14: 44,239,636 (GRCm39) |
I31L |
probably benign |
Het |
Asic4 |
A |
G |
1: 75,449,060 (GRCm39) |
N403S |
probably damaging |
Het |
Bicd1 |
G |
A |
6: 149,414,990 (GRCm39) |
V568M |
probably benign |
Het |
Ccdc192 |
A |
G |
18: 57,863,895 (GRCm39) |
E233G |
probably damaging |
Het |
Cfap45 |
A |
T |
1: 172,366,163 (GRCm39) |
M339L |
probably benign |
Het |
Cnga4 |
A |
G |
7: 105,056,286 (GRCm39) |
D399G |
probably damaging |
Het |
Csnk1g3 |
C |
T |
18: 54,028,897 (GRCm39) |
R17W |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 117,894,939 (GRCm39) |
F3636S |
probably damaging |
Het |
Dscaml1 |
A |
T |
9: 45,596,681 (GRCm39) |
T842S |
probably benign |
Het |
Ets2 |
C |
A |
16: 95,516,127 (GRCm39) |
Q236K |
probably benign |
Het |
Ext2 |
C |
A |
2: 93,644,108 (GRCm39) |
V58L |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,322,359 (GRCm39) |
K1269E |
possibly damaging |
Het |
Fech |
A |
G |
18: 64,597,185 (GRCm39) |
L258P |
probably damaging |
Het |
Gls |
A |
G |
1: 52,230,311 (GRCm39) |
S467P |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,269,779 (GRCm39) |
D1141E |
probably damaging |
Het |
Gm45861 |
T |
G |
8: 28,071,032 (GRCm39) |
M1246R |
unknown |
Het |
Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
Itga7 |
G |
T |
10: 128,769,775 (GRCm39) |
|
probably benign |
Het |
Itpripl1 |
A |
T |
2: 126,983,581 (GRCm39) |
C180* |
probably null |
Het |
Klhl33 |
C |
A |
14: 51,130,631 (GRCm39) |
V28F |
probably damaging |
Het |
Kmo |
A |
T |
1: 175,481,194 (GRCm39) |
D304V |
probably damaging |
Het |
Mier2 |
T |
C |
10: 79,377,028 (GRCm39) |
N537S |
possibly damaging |
Het |
Mroh9 |
A |
G |
1: 162,902,277 (GRCm39) |
I112T |
possibly damaging |
Het |
Mterf1a |
T |
A |
5: 3,940,995 (GRCm39) |
E291V |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,362,405 (GRCm39) |
N1905K |
unknown |
Het |
Myt1l |
G |
A |
12: 29,877,087 (GRCm39) |
R246Q |
unknown |
Het |
Nav2 |
A |
G |
7: 49,232,605 (GRCm39) |
E1854G |
probably damaging |
Het |
Nelfcd |
A |
G |
2: 174,265,771 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
A |
11: 79,300,350 (GRCm39) |
D287E |
probably benign |
Het |
Nfyc |
T |
C |
4: 120,630,966 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
T |
11: 58,929,725 (GRCm39) |
D5163E |
probably damaging |
Het |
Or10d4c |
C |
T |
9: 39,558,403 (GRCm39) |
P127L |
probably damaging |
Het |
Or8g28 |
T |
A |
9: 39,169,984 (GRCm39) |
|
probably null |
Het |
Plppr1 |
A |
T |
4: 49,320,002 (GRCm39) |
L209F |
possibly damaging |
Het |
Pmm1 |
T |
C |
15: 81,835,803 (GRCm39) |
D226G |
probably damaging |
Het |
Ppp2r5a |
A |
G |
1: 191,104,806 (GRCm39) |
V80A |
probably benign |
Het |
Pramel17 |
T |
A |
4: 101,695,159 (GRCm39) |
I51L |
probably benign |
Het |
Psrc1 |
A |
G |
3: 108,293,759 (GRCm39) |
|
probably null |
Het |
Ralbp1 |
T |
C |
17: 66,174,593 (GRCm39) |
T60A |
probably benign |
Het |
Rasal2 |
A |
T |
1: 157,020,339 (GRCm39) |
S217T |
possibly damaging |
Het |
Rnase12 |
A |
G |
14: 51,294,395 (GRCm39) |
F95L |
probably damaging |
Het |
Rnf152 |
A |
T |
1: 105,211,957 (GRCm39) |
I200K |
probably damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
Ryk |
C |
T |
9: 102,765,672 (GRCm39) |
T327I |
probably damaging |
Het |
Sell |
A |
T |
1: 163,892,903 (GRCm39) |
T40S |
probably benign |
Het |
Slc15a2 |
G |
A |
16: 36,595,964 (GRCm39) |
H153Y |
probably damaging |
Het |
Slit3 |
A |
G |
11: 35,591,139 (GRCm39) |
D1317G |
possibly damaging |
Het |
Slx4 |
G |
A |
16: 3,817,164 (GRCm39) |
T19M |
probably benign |
Het |
Spata31 |
C |
T |
13: 65,070,359 (GRCm39) |
R836* |
probably null |
Het |
Specc1l |
T |
C |
10: 75,080,921 (GRCm39) |
S106P |
probably benign |
Het |
Speer1a |
C |
A |
5: 11,394,884 (GRCm39) |
Q124K |
possibly damaging |
Het |
Stc2 |
T |
C |
11: 31,317,799 (GRCm39) |
N74S |
probably damaging |
Het |
Strn3 |
A |
T |
12: 51,674,543 (GRCm39) |
S498T |
probably damaging |
Het |
Sva |
C |
T |
6: 42,019,148 (GRCm39) |
T106I |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,301,984 (GRCm39) |
L131Q |
possibly damaging |
Het |
Tmem135 |
T |
A |
7: 88,954,727 (GRCm39) |
R97W |
probably damaging |
Het |
Tmx4 |
A |
G |
2: 134,451,425 (GRCm39) |
L176S |
possibly damaging |
Het |
Tomm20l |
C |
A |
12: 71,164,171 (GRCm39) |
|
probably null |
Het |
Topors |
A |
T |
4: 40,262,173 (GRCm39) |
F370L |
possibly damaging |
Het |
Ulk4 |
T |
C |
9: 120,970,904 (GRCm39) |
T1023A |
probably benign |
Het |
Unc13a |
C |
T |
8: 72,094,153 (GRCm39) |
|
probably null |
Het |
Urb2 |
T |
C |
8: 124,756,491 (GRCm39) |
S733P |
probably benign |
Het |
Vwf |
A |
G |
6: 125,591,060 (GRCm39) |
D750G |
|
Het |
Xylt1 |
G |
A |
7: 117,192,812 (GRCm39) |
D373N |
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 |
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'- GCTGTGTAGCCCTTTCTGCA -3'
(R):5'- CAAGTTCTGCACAGGCCTCA -3'
Sequencing Primer
(F):5'- GCATCCCTGTTGCTTGTTTG -3'
(R):5'- TCACCAGCCTGCAGGGAG -3'
|
Posted On |
2019-10-18 |