Incidental Mutation 'R8696:Polr1b'
| ID |
668675 |
| 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 |
068550-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8696 (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 128967571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 988
(L988Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000035481]
[ENSMUST00000103205]
|
| AlphaFold |
P70700 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000035481
|
| SMART Domains |
Protein: ENSMUSP00000044253
Gene: ENSMUSG00000037938
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LQL|A
|
1 |
110 |
2e-69 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103205
AA Change: L988Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: L988Q
| 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: 99.8%
- 20x: 99.3%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,687,235 (GRCm39) |
N423S |
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,248,344 (GRCm39) |
L672P |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,067 (GRCm39) |
T182I |
possibly damaging |
Het |
| Ankrd33 |
A |
G |
15: 101,014,864 (GRCm39) |
I84V |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,159,799 (GRCm39) |
Y272C |
possibly damaging |
Het |
| Arid4a |
T |
C |
12: 71,110,090 (GRCm39) |
S144P |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,415,285 (GRCm39) |
D666G |
probably damaging |
Het |
| Blk |
A |
T |
14: 63,618,149 (GRCm39) |
|
probably benign |
Het |
| Btbd2 |
C |
T |
10: 80,480,515 (GRCm39) |
R366Q |
possibly damaging |
Het |
| Cacna1i |
T |
C |
15: 80,266,175 (GRCm39) |
V1554A |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,614 (GRCm39) |
L428P |
probably damaging |
Het |
| Ccdc30 |
T |
G |
4: 119,234,505 (GRCm39) |
Y69S |
possibly damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
| Cdk11b |
T |
C |
4: 155,732,779 (GRCm39) |
V539A |
unknown |
Het |
| Ceacam3 |
A |
T |
7: 16,893,937 (GRCm39) |
N483Y |
|
Het |
| Cenpf |
C |
T |
1: 189,390,194 (GRCm39) |
A1213T |
probably benign |
Het |
| Chrna6 |
G |
T |
8: 27,897,195 (GRCm39) |
Y227* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,601,294 (GRCm39) |
D814V |
probably damaging |
Het |
| Csl |
A |
T |
10: 99,594,826 (GRCm39) |
Y80N |
probably damaging |
Het |
| Ctsm |
A |
G |
13: 61,685,521 (GRCm39) |
L297P |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,623,958 (GRCm39) |
V31A |
unknown |
Het |
| Dis3l2 |
G |
T |
1: 86,719,162 (GRCm39) |
G131* |
probably null |
Het |
| Dkk1 |
G |
A |
19: 30,526,688 (GRCm39) |
A31V |
probably damaging |
Het |
| Dlx3 |
C |
T |
11: 95,012,596 (GRCm39) |
R130* |
probably null |
Het |
| Dnajc24 |
T |
C |
2: 105,832,315 (GRCm39) |
M23V |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,862,662 (GRCm39) |
N76I |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,100,305 (GRCm39) |
N226S |
probably benign |
Het |
| Fabp9 |
C |
T |
3: 10,259,047 (GRCm39) |
V120M |
possibly damaging |
Het |
| Fcrlb |
A |
G |
1: 170,739,648 (GRCm39) |
C85R |
probably damaging |
Het |
| Gnai2 |
A |
C |
9: 107,496,968 (GRCm39) |
L131R |
|
Het |
| Gprin1 |
A |
G |
13: 54,885,764 (GRCm39) |
W837R |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,562,311 (GRCm39) |
C513Y |
probably damaging |
Het |
| H60c |
T |
A |
10: 3,210,265 (GRCm39) |
I95F |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,531,743 (GRCm39) |
V177A |
possibly damaging |
Het |
| Herc6 |
T |
A |
6: 57,624,134 (GRCm39) |
C635S |
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,112,125 (GRCm39) |
M347L |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,914,752 (GRCm39) |
H436R |
probably benign |
Het |
| Klrg2 |
G |
T |
6: 38,613,430 (GRCm39) |
P191Q |
possibly damaging |
Het |
| Krt5 |
A |
G |
15: 101,618,742 (GRCm39) |
Y340H |
probably damaging |
Het |
| Map9 |
T |
A |
3: 82,270,668 (GRCm39) |
H77Q |
possibly damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,356,557 (GRCm39) |
T221A |
probably benign |
Het |
| Myo10 |
C |
G |
15: 25,799,572 (GRCm39) |
H1378Q |
probably damaging |
Het |
| Nkx6-1 |
T |
C |
5: 101,807,513 (GRCm39) |
T290A |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Notch1 |
T |
A |
2: 26,368,004 (GRCm39) |
|
probably benign |
Het |
| Nr1d2 |
A |
T |
14: 18,216,661 (GRCm38) |
M169K |
probably damaging |
Het |
| Or10ak8 |
C |
T |
4: 118,774,635 (GRCm39) |
V10I |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,420 (GRCm39) |
M140V |
possibly damaging |
Het |
| Or13c7c |
A |
G |
4: 43,836,193 (GRCm39) |
V99A |
probably benign |
Het |
| Or6c69b |
A |
T |
10: 129,626,562 (GRCm39) |
F299I |
possibly damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,433 (GRCm39) |
M1V |
probably null |
Het |
| Pdia6 |
T |
A |
12: 17,329,662 (GRCm39) |
I266K |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,091,105 (GRCm39) |
|
probably null |
Het |
| Por |
A |
T |
5: 135,763,112 (GRCm39) |
M541L |
probably benign |
Het |
| Ppid |
T |
C |
3: 79,498,689 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
A |
T |
6: 132,577,322 (GRCm39) |
Q203L |
unknown |
Het |
| Psme4 |
T |
G |
11: 30,759,896 (GRCm39) |
F340V |
probably damaging |
Het |
| Ptges2 |
T |
C |
2: 32,290,077 (GRCm39) |
S164P |
probably damaging |
Het |
| Rab18 |
G |
A |
18: 6,788,635 (GRCm39) |
G201S |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,265,132 (GRCm39) |
E391G |
probably damaging |
Het |
| Rcbtb2 |
T |
G |
14: 73,404,305 (GRCm39) |
V259G |
probably damaging |
Het |
| Rpn1 |
C |
A |
6: 88,080,359 (GRCm39) |
Q553K |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,609,459 (GRCm39) |
S697P |
probably damaging |
Het |
| Sdad1 |
T |
G |
5: 92,437,645 (GRCm39) |
H603P |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,520,544 (GRCm39) |
L47P |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,248,686 (GRCm39) |
S646T |
possibly damaging |
Het |
| Spdye4a |
T |
A |
5: 143,210,754 (GRCm39) |
E105D |
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,231,181 (GRCm39) |
C230Y |
possibly damaging |
Het |
| Stard9 |
A |
T |
2: 120,531,595 (GRCm39) |
R2617S |
probably benign |
Het |
| Tas2r118 |
G |
T |
6: 23,969,344 (GRCm39) |
T239K |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,084,094 (GRCm39) |
L161P |
probably benign |
Het |
| Ttc21a |
T |
G |
9: 119,772,977 (GRCm39) |
V218G |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,784,492 (GRCm39) |
S1854P |
probably benign |
Het |
| Unc93a |
A |
G |
17: 13,341,852 (GRCm39) |
L93P |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,839,217 (GRCm39) |
I2109N |
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,723,419 (GRCm39) |
S287C |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,847,321 (GRCm39) |
F55S |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,518 (GRCm39) |
T109A |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 74,520,599 (GRCm39) |
Y160H |
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 |
|
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 |
|
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'- TTAATCGAGAGCATGGCTGGG -3'
(R):5'- AGCAGTTGAAAAGCCGGTCATG -3'
Sequencing Primer
(F):5'- GAAGTCTGCAGCTTTGCAC -3'
(R):5'- AAAGACGTACCGTGTGCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation