Incidental Mutation 'IGL02797:Polr1b'
| ID |
359988 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr1b
|
| Ensembl Gene |
ENSMUSG00000027395 |
| Gene Name |
polymerase (RNA) I polypeptide B |
| Synonyms |
Rpo1-2, RPA116, 128kDa, RPA2, D630020H17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02797
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128944899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 65
(E65G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000103205]
|
| AlphaFold |
P70700 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028874
AA Change: E65G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: E65G
| 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 |
possibly damaging
Transcript: ENSMUST00000103205
AA Change: E65G
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: E65G
| 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,187,214 (GRCm39) |
M924T |
probably benign |
Het |
| Afg2a |
A |
G |
3: 37,512,465 (GRCm39) |
|
probably benign |
Het |
| B3gat2 |
A |
G |
1: 23,854,360 (GRCm39) |
Y218C |
probably damaging |
Het |
| Bcs1l |
T |
C |
1: 74,629,620 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
A |
9: 78,568,995 (GRCm39) |
I358N |
probably damaging |
Het |
| Cd276 |
T |
C |
9: 58,444,719 (GRCm39) |
D84G |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,412 (GRCm39) |
F549S |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,787,024 (GRCm39) |
N549S |
probably benign |
Het |
| Cma1 |
A |
G |
14: 56,181,271 (GRCm39) |
S32P |
possibly damaging |
Het |
| Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
| Ctps1 |
A |
T |
4: 120,420,021 (GRCm39) |
I131K |
probably benign |
Het |
| Cyp2w1 |
T |
C |
5: 139,342,628 (GRCm39) |
L441P |
probably damaging |
Het |
| Dnajc21 |
A |
G |
15: 10,461,441 (GRCm39) |
Y170H |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,761,164 (GRCm39) |
L648Q |
probably damaging |
Het |
| Eif3l |
T |
A |
15: 78,959,477 (GRCm39) |
D6E |
probably benign |
Het |
| Fam228a |
A |
T |
12: 4,781,484 (GRCm39) |
L125Q |
probably damaging |
Het |
| Foxa2 |
A |
G |
2: 147,886,045 (GRCm39) |
C263R |
possibly damaging |
Het |
| Gm17455 |
A |
G |
10: 60,239,107 (GRCm39) |
E124G |
possibly damaging |
Het |
| Gpc6 |
T |
G |
14: 117,163,394 (GRCm39) |
L16R |
probably damaging |
Het |
| Hdac9 |
A |
G |
12: 34,443,273 (GRCm39) |
|
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,845,679 (GRCm39) |
N400S |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,152,586 (GRCm39) |
|
probably null |
Het |
| Il12b |
A |
G |
11: 44,301,180 (GRCm39) |
|
probably null |
Het |
| Lama4 |
A |
G |
10: 38,932,920 (GRCm39) |
R599G |
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
| Mink1 |
C |
T |
11: 70,501,176 (GRCm39) |
P784S |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,366,921 (GRCm39) |
F513S |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,538,186 (GRCm39) |
D474V |
probably damaging |
Het |
| Nhsl3 |
C |
T |
4: 129,117,104 (GRCm39) |
R565H |
probably damaging |
Het |
| Nos2 |
T |
G |
11: 78,831,170 (GRCm39) |
F420V |
probably damaging |
Het |
| Or52ab2 |
A |
T |
7: 102,970,058 (GRCm39) |
I147L |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,904 (GRCm39) |
Y670C |
probably damaging |
Het |
| Ppp1r10 |
T |
G |
17: 36,238,904 (GRCm39) |
|
probably null |
Het |
| Prag1 |
C |
T |
8: 36,606,655 (GRCm39) |
R799C |
probably damaging |
Het |
| Prb1c |
T |
A |
6: 132,340,008 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
C |
13: 63,681,421 (GRCm39) |
N485S |
probably benign |
Het |
| Rgsl1 |
T |
C |
1: 153,683,454 (GRCm39) |
T19A |
probably damaging |
Het |
| Sgpl1 |
A |
C |
10: 60,937,507 (GRCm39) |
S507A |
probably benign |
Het |
| Sgpp2 |
A |
G |
1: 78,393,819 (GRCm39) |
D274G |
probably benign |
Het |
| Skap1 |
A |
G |
11: 96,603,843 (GRCm39) |
D211G |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,627,189 (GRCm39) |
T830A |
probably benign |
Het |
| Smpd2 |
G |
A |
10: 41,364,074 (GRCm39) |
T215I |
possibly damaging |
Het |
| Sntg2 |
T |
G |
12: 30,276,891 (GRCm39) |
Y387S |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,948,355 (GRCm39) |
D810A |
probably damaging |
Het |
| Spop |
T |
A |
11: 95,372,909 (GRCm39) |
I217N |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,934,345 (GRCm39) |
R120G |
possibly damaging |
Het |
| Stau1 |
A |
T |
2: 166,791,266 (GRCm39) |
*496R |
probably null |
Het |
| Tmeff2 |
C |
T |
1: 50,967,206 (GRCm39) |
R34C |
probably damaging |
Het |
| Treml2 |
C |
T |
17: 48,609,739 (GRCm39) |
A57V |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,445,250 (GRCm39) |
D58G |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,666 (GRCm39) |
I721M |
possibly damaging |
Het |
| Vmn2r70 |
C |
A |
7: 85,208,295 (GRCm39) |
M727I |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,162,702 (GRCm39) |
C161S |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation