Incidental Mutation 'IGL01066:Polr1b'
| ID |
50392 |
| 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 # |
IGL01066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128961072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 677
(S677L)
|
| 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: S677L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: S677L
| 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: S677L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: S677L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147727
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 2300003K06Rik |
T |
A |
11: 99,728,454 (GRCm39) |
R130* |
probably null |
Het |
| Abca12 |
T |
A |
1: 71,392,889 (GRCm39) |
R117W |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,261,800 (GRCm39) |
S497P |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,473,874 (GRCm39) |
S710T |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,014,551 (GRCm39) |
N471K |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,491,790 (GRCm39) |
M879K |
probably null |
Het |
| Apoe |
A |
G |
7: 19,430,525 (GRCm39) |
L239P |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,891,942 (GRCm39) |
Y1274H |
probably damaging |
Het |
| B3glct |
C |
T |
5: 149,632,890 (GRCm39) |
T80I |
possibly damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,524,540 (GRCm39) |
T271A |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,455,223 (GRCm39) |
N1088I |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,470,481 (GRCm39) |
|
probably benign |
Het |
| Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
| Dnai7 |
C |
T |
6: 145,121,948 (GRCm39) |
G624S |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,392,192 (GRCm39) |
|
probably benign |
Het |
| Enc1 |
A |
G |
13: 97,381,822 (GRCm39) |
I111V |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,816,065 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,161,413 (GRCm39) |
|
probably benign |
Het |
| Fkbp7 |
A |
T |
2: 76,503,252 (GRCm39) |
L36* |
probably null |
Het |
| Fxn |
A |
T |
19: 24,244,662 (GRCm39) |
|
probably benign |
Het |
| Gm10152 |
C |
T |
7: 144,316,993 (GRCm39) |
P16L |
unknown |
Het |
| Hivep2 |
T |
C |
10: 14,024,768 (GRCm39) |
V2194A |
possibly damaging |
Het |
| Hook3 |
T |
G |
8: 26,538,326 (GRCm39) |
E525A |
probably damaging |
Het |
| Icam1 |
A |
G |
9: 20,927,401 (GRCm39) |
|
probably null |
Het |
| Ifngr1 |
C |
T |
10: 19,484,946 (GRCm39) |
T315I |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,235,203 (GRCm39) |
|
probably null |
Het |
| Irag2 |
T |
C |
6: 145,106,681 (GRCm39) |
S222P |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,336,266 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,050,321 (GRCm39) |
C311S |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,688,141 (GRCm39) |
M714K |
possibly damaging |
Het |
| Lypd5 |
C |
T |
7: 24,052,910 (GRCm39) |
T189I |
probably benign |
Het |
| Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
| Met |
T |
C |
6: 17,535,104 (GRCm39) |
|
probably null |
Het |
| Nlrp4g |
C |
A |
9: 124,349,526 (GRCm38) |
|
noncoding transcript |
Het |
| Nlrp6 |
T |
A |
7: 140,501,709 (GRCm39) |
V62D |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,172,999 (GRCm39) |
|
probably null |
Het |
| Or2y1f |
T |
C |
11: 49,184,457 (GRCm39) |
I103T |
possibly damaging |
Het |
| Or5m9 |
A |
G |
2: 85,877,602 (GRCm39) |
R259G |
probably damaging |
Het |
| Or5p79 |
T |
C |
7: 108,221,064 (GRCm39) |
F15S |
probably damaging |
Het |
| Pcnx1 |
G |
A |
12: 82,038,795 (GRCm39) |
R2020Q |
possibly damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,402,718 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,166,637 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
T |
G |
15: 85,700,360 (GRCm39) |
I1859L |
probably benign |
Het |
| Plcg1 |
A |
T |
2: 160,596,318 (GRCm39) |
H638L |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,382,096 (GRCm39) |
L533P |
probably damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,782,370 (GRCm39) |
W171R |
probably damaging |
Het |
| Son |
T |
C |
16: 91,457,024 (GRCm39) |
|
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,827,950 (GRCm39) |
S266P |
probably damaging |
Het |
| Tedc1 |
A |
G |
12: 113,126,770 (GRCm39) |
E344G |
probably damaging |
Het |
| Tkfc |
T |
C |
19: 10,571,892 (GRCm39) |
I381M |
probably benign |
Het |
| Tmprss6 |
T |
C |
15: 78,326,634 (GRCm39) |
D1G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,582,770 (GRCm39) |
T22708A |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,199,710 (GRCm39) |
|
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,372,234 (GRCm39) |
|
probably null |
Het |
| Vwc2l |
T |
C |
1: 70,768,070 (GRCm39) |
F45L |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,939,195 (GRCm39) |
T154A |
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation