Incidental Mutation 'IGL02398:Polr1b'
ID |
291756 |
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 # |
IGL02398
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128944886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 61
(I61V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000103205]
|
AlphaFold |
P70700 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028874
AA Change: I61V
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000028874 Gene: ENSMUSG00000027395 AA Change: I61V
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 benign
Transcript: ENSMUST00000103205
AA Change: I61V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000099494 Gene: ENSMUSG00000027395 AA Change: I61V
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
T |
A |
17: 57,709,824 (GRCm39) |
C160* |
probably null |
Het |
Alkbh8 |
C |
T |
9: 3,345,870 (GRCm39) |
P197S |
possibly damaging |
Het |
Ankef1 |
A |
C |
2: 136,397,702 (GRCm39) |
N761T |
probably damaging |
Het |
Ankrd7 |
A |
G |
6: 18,866,696 (GRCm39) |
Y72C |
probably damaging |
Het |
Cfap36 |
T |
G |
11: 29,172,833 (GRCm39) |
M231L |
probably benign |
Het |
Cog7 |
A |
G |
7: 121,563,432 (GRCm39) |
C227R |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,793,970 (GRCm39) |
E568D |
probably benign |
Het |
Cwc27 |
G |
A |
13: 104,940,762 (GRCm39) |
T199I |
possibly damaging |
Het |
Cyp26a1 |
A |
G |
19: 37,688,467 (GRCm39) |
I330V |
probably benign |
Het |
Dcaf7 |
T |
C |
11: 105,944,579 (GRCm39) |
V254A |
probably benign |
Het |
Dhrs7 |
G |
A |
12: 72,711,466 (GRCm39) |
R24C |
probably damaging |
Het |
Ehmt2 |
T |
A |
17: 35,127,455 (GRCm39) |
C838S |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,657,829 (GRCm39) |
|
probably null |
Het |
Gjb3 |
T |
A |
4: 127,219,855 (GRCm39) |
S226C |
probably benign |
Het |
Gm14496 |
A |
G |
2: 181,637,963 (GRCm39) |
I346V |
probably benign |
Het |
Gm8050 |
T |
C |
14: 17,930,894 (GRCm39) |
E172G |
probably damaging |
Het |
Higd1a |
G |
A |
9: 121,681,590 (GRCm39) |
R22W |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,678,648 (GRCm39) |
L491S |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,244,426 (GRCm39) |
S794P |
possibly damaging |
Het |
Irgm2 |
A |
T |
11: 58,110,755 (GRCm39) |
I161F |
probably damaging |
Het |
Lrp8 |
G |
T |
4: 107,704,691 (GRCm39) |
V304F |
probably damaging |
Het |
Lrp8 |
C |
A |
4: 107,726,245 (GRCm39) |
S850R |
probably damaging |
Het |
Lrrc9 |
A |
T |
12: 72,513,677 (GRCm39) |
M513L |
probably benign |
Het |
Myo18b |
A |
T |
5: 112,978,178 (GRCm39) |
V1248E |
possibly damaging |
Het |
Myo1b |
A |
T |
1: 51,797,050 (GRCm39) |
N945K |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,356,574 (GRCm39) |
L1604P |
probably damaging |
Het |
Oas1f |
A |
T |
5: 120,989,568 (GRCm39) |
Y169F |
probably benign |
Het |
Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
Or2a56 |
A |
T |
6: 42,933,046 (GRCm39) |
I205F |
probably benign |
Het |
Or52r1c |
G |
A |
7: 102,735,313 (GRCm39) |
C191Y |
probably damaging |
Het |
Or8k22 |
A |
T |
2: 86,162,868 (GRCm39) |
Y277* |
probably null |
Het |
Parp8 |
A |
G |
13: 117,047,399 (GRCm39) |
|
probably null |
Het |
Pde4dip |
T |
C |
3: 97,674,097 (GRCm39) |
Y273C |
probably benign |
Het |
Pgbd5 |
C |
T |
8: 125,111,257 (GRCm39) |
A54T |
probably damaging |
Het |
Pglyrp4 |
G |
A |
3: 90,646,424 (GRCm39) |
|
probably benign |
Het |
Piezo1 |
A |
T |
8: 123,213,302 (GRCm39) |
S1819R |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,913,540 (GRCm39) |
|
probably benign |
Het |
Prlhr |
G |
T |
19: 60,455,753 (GRCm39) |
A271E |
probably damaging |
Het |
Rad23b |
C |
T |
4: 55,350,360 (GRCm39) |
|
probably benign |
Het |
Rad51ap1 |
A |
T |
6: 126,905,114 (GRCm39) |
S132R |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,020,980 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,677,767 (GRCm39) |
D1327G |
probably benign |
Het |
Slit1 |
A |
C |
19: 41,590,676 (GRCm39) |
V1332G |
probably damaging |
Het |
Spin2h |
A |
G |
X: 32,162,153 (GRCm39) |
D224G |
probably damaging |
Het |
Tmem178b |
A |
G |
6: 40,184,461 (GRCm39) |
M120V |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,890,630 (GRCm39) |
C106R |
probably damaging |
Het |
Trim35 |
A |
G |
14: 66,546,697 (GRCm39) |
Y488C |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,840,703 (GRCm39) |
H326Q |
probably damaging |
Het |
Yap1 |
A |
T |
9: 7,950,536 (GRCm39) |
I315K |
probably benign |
Het |
Zfp654 |
A |
G |
16: 64,606,381 (GRCm39) |
V607A |
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 |
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 |
2015-04-16 |