Incidental Mutation 'R7959:Polr1b'
ID |
649993 |
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 |
046003-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7959 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 128950014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 245
(F245I)
|
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: F245I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028874 Gene: ENSMUSG00000027395 AA Change: F245I
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: F245I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099494 Gene: ENSMUSG00000027395 AA Change: F245I
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: 99.7%
- 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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,988,013 (GRCm39) |
V3099A |
possibly damaging |
Het |
Apba2 |
A |
G |
7: 64,345,571 (GRCm39) |
M254V |
probably benign |
Het |
Bbs7 |
C |
T |
3: 36,657,085 (GRCm39) |
D248N |
probably damaging |
Het |
Ccdc168 |
T |
C |
1: 44,096,728 (GRCm39) |
I1457V |
probably benign |
Het |
Cldn8 |
A |
G |
16: 88,359,829 (GRCm39) |
V32A |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,484,780 (GRCm39) |
P496T |
unknown |
Het |
Cyp27a1 |
T |
A |
1: 74,776,236 (GRCm39) |
N417K |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,682,621 (GRCm39) |
D283G |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,933,627 (GRCm39) |
K4878E |
probably damaging |
Het |
Elp1 |
A |
T |
4: 56,774,737 (GRCm39) |
M746K |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,195,967 (GRCm39) |
Y556N |
unknown |
Het |
Fsip2 |
T |
C |
2: 82,816,120 (GRCm39) |
I3951T |
possibly damaging |
Het |
Gigyf1 |
C |
T |
5: 137,522,581 (GRCm39) |
T773I |
probably damaging |
Het |
Heatr6 |
A |
T |
11: 83,672,189 (GRCm39) |
K1066* |
probably null |
Het |
Mdfic |
T |
C |
6: 15,741,070 (GRCm39) |
S142P |
possibly damaging |
Het |
Mettl16 |
A |
G |
11: 74,707,852 (GRCm39) |
I389V |
probably benign |
Het |
Mia3 |
T |
C |
1: 183,125,760 (GRCm39) |
Y57C |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,544,239 (GRCm39) |
|
probably null |
Het |
Or1e1 |
T |
C |
11: 73,244,744 (GRCm39) |
L55P |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,586,602 (GRCm39) |
*313W |
probably null |
Het |
Or52a24 |
T |
A |
7: 103,382,015 (GRCm39) |
V294D |
probably damaging |
Het |
Or8b1b |
T |
A |
9: 38,376,211 (GRCm39) |
S291R |
probably damaging |
Het |
Or9s13 |
T |
A |
1: 92,548,029 (GRCm39) |
C134S |
probably damaging |
Het |
Pierce1 |
A |
T |
2: 28,352,369 (GRCm39) |
N131K |
probably damaging |
Het |
Plcxd1 |
A |
T |
5: 110,251,422 (GRCm39) |
I333F |
probably damaging |
Het |
Plxna2 |
C |
A |
1: 194,493,270 (GRCm39) |
S1848R |
probably damaging |
Het |
Plxna2 |
AT |
A |
1: 194,476,172 (GRCm39) |
|
probably null |
Het |
Pnpla2 |
T |
A |
7: 141,037,406 (GRCm39) |
D136E |
probably benign |
Het |
Prmt9 |
T |
A |
8: 78,287,594 (GRCm39) |
I245N |
probably damaging |
Het |
Serhl |
A |
T |
15: 82,986,073 (GRCm39) |
D62V |
probably damaging |
Het |
Sh3rf3 |
A |
T |
10: 58,842,925 (GRCm39) |
D297V |
probably damaging |
Het |
Spata13 |
C |
T |
14: 60,993,679 (GRCm39) |
R1044* |
probably null |
Het |
Strbp |
G |
A |
2: 37,530,906 (GRCm39) |
T116I |
probably benign |
Het |
Supt5 |
T |
C |
7: 28,015,224 (GRCm39) |
D977G |
probably benign |
Het |
Tmem184c |
A |
G |
8: 78,329,532 (GRCm39) |
V176A |
possibly damaging |
Het |
Uhrf2 |
A |
G |
19: 30,063,660 (GRCm39) |
N541S |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,755,949 (GRCm39) |
F7Y |
possibly damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,169,040 (GRCm39) |
R697G |
probably benign |
Het |
Zfp994 |
A |
G |
17: 22,421,761 (GRCm39) |
V18A |
probably damaging |
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 |
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'- CTTGGCTCATCTTAACAAGCG -3'
(R):5'- TTTTAAGGATGGACCAGGAGC -3'
Sequencing Primer
(F):5'- GGCTCATCTTAACAAGCGATTTGC -3'
(R):5'- ACAAAGTCTTGGTATGTTGTCCTAGC -3'
|
Posted On |
2020-09-15 |