Incidental Mutation 'R8963:Polr1b'
| ID |
682467 |
| 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 |
068797-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8963 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128957576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 544
(T544A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000103205]
|
| AlphaFold |
P70700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028874
AA Change: T544A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: T544A
| 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: T544A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: T544A
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,902,963 (GRCm39) |
T421A |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,317,443 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,567,588 (GRCm39) |
V5195E |
probably benign |
Het |
| Adora2b |
C |
T |
11: 62,139,983 (GRCm39) |
A19V |
possibly damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,477,698 (GRCm39) |
C115R |
probably benign |
Het |
| Ankrd35 |
T |
A |
3: 96,587,003 (GRCm39) |
L106* |
probably null |
Het |
| Ankrd44 |
G |
A |
1: 54,801,538 (GRCm39) |
A263V |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,308,120 (GRCm39) |
K125R |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,719,232 (GRCm39) |
L245* |
probably null |
Het |
| Cbll1 |
A |
T |
12: 31,538,199 (GRCm39) |
H185Q |
probably damaging |
Het |
| Ccdc150 |
A |
C |
1: 54,311,641 (GRCm39) |
N209T |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,448,416 (GRCm39) |
N1465K |
possibly damaging |
Het |
| Cfap54 |
C |
A |
10: 92,864,562 (GRCm39) |
G124* |
probably null |
Het |
| Chml |
A |
T |
1: 175,514,601 (GRCm39) |
L440H |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,122,603 (GRCm39) |
Q128L |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,498,677 (GRCm39) |
D84E |
probably benign |
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,926 (GRCm39) |
I463F |
possibly damaging |
Het |
| Cyp51 |
C |
A |
5: 4,136,519 (GRCm39) |
R425L |
probably damaging |
Het |
| Daam1 |
A |
G |
12: 71,992,018 (GRCm39) |
T279A |
unknown |
Het |
| Ebf2 |
G |
T |
14: 67,665,554 (GRCm39) |
V571F |
probably benign |
Het |
| Elapor2 |
T |
A |
5: 9,487,792 (GRCm39) |
N559K |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,063,776 (GRCm39) |
I275N |
probably damaging |
Het |
| F11r |
A |
G |
1: 171,288,505 (GRCm39) |
Q116R |
probably benign |
Het |
| Foxred2 |
T |
A |
15: 77,829,805 (GRCm39) |
D580V |
probably benign |
Het |
| Gatad1 |
A |
C |
5: 3,691,544 (GRCm39) |
L4R |
probably damaging |
Het |
| Gcn1 |
T |
A |
5: 115,727,153 (GRCm39) |
M670K |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,774,885 (GRCm39) |
F171I |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 136,021,007 (GRCm39) |
V98A |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,407 (GRCm39) |
V2735E |
probably damaging |
Het |
| Hrct1 |
A |
T |
4: 43,727,564 (GRCm39) |
|
probably benign |
Het |
| Ighv1-11 |
C |
T |
12: 114,575,864 (GRCm39) |
R117K |
probably damaging |
Het |
| Igkv12-46 |
A |
T |
6: 69,741,754 (GRCm39) |
S34T |
probably damaging |
Het |
| Il27ra |
T |
A |
8: 84,767,711 (GRCm39) |
N71Y |
probably damaging |
Het |
| Iqca1 |
G |
T |
1: 90,067,649 (GRCm39) |
H201N |
probably benign |
Het |
| Itgb1bp1 |
C |
T |
12: 21,324,864 (GRCm39) |
R64Q |
probably damaging |
Het |
| Katnb1 |
T |
C |
8: 95,809,519 (GRCm39) |
L13S |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,743,714 (GRCm39) |
R1270Q |
probably benign |
Het |
| Klhdc2 |
A |
T |
12: 69,347,065 (GRCm39) |
R77* |
probably null |
Het |
| Klra10 |
A |
T |
6: 130,249,617 (GRCm39) |
|
probably null |
Het |
| Large1 |
A |
T |
8: 73,542,612 (GRCm39) |
I704N |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 40,888,196 (GRCm39) |
H2241Y |
probably benign |
Het |
| Lrpap1 |
T |
A |
5: 35,255,001 (GRCm39) |
M212L |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,690,348 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
A |
T |
1: 40,039,740 (GRCm39) |
Q44L |
probably damaging |
Het |
| Map7d1 |
A |
G |
4: 126,130,475 (GRCm39) |
S412P |
probably damaging |
Het |
| Me1 |
A |
T |
9: 86,480,844 (GRCm39) |
F354I |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,108,658 (GRCm39) |
V281A |
probably damaging |
Het |
| Nrip2 |
A |
G |
6: 128,385,288 (GRCm39) |
T240A |
possibly damaging |
Het |
| Nsmaf |
A |
G |
4: 6,428,471 (GRCm39) |
V203A |
probably damaging |
Het |
| Or12e8 |
T |
A |
2: 87,187,950 (GRCm39) |
I54K |
possibly damaging |
Het |
| Or4g17 |
A |
T |
2: 111,209,645 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or4n5 |
A |
T |
14: 50,132,509 (GRCm39) |
M250K |
probably benign |
Het |
| Or8g2 |
A |
G |
9: 39,821,495 (GRCm39) |
Y132C |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,004,995 (GRCm39) |
F124L |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,131,750 (GRCm39) |
D273V |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
G |
T |
6: 115,949,506 (GRCm39) |
S760* |
probably null |
Het |
| Polr2g |
T |
C |
19: 8,771,513 (GRCm39) |
D153G |
probably damaging |
Het |
| Pramel12 |
T |
C |
4: 143,144,229 (GRCm39) |
Y192H |
probably benign |
Het |
| Rad51ap2 |
A |
C |
12: 11,506,255 (GRCm39) |
E59A |
possibly damaging |
Het |
| Rrm1 |
A |
T |
7: 102,105,739 (GRCm39) |
Y285F |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,667,015 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
16: 90,026,745 (GRCm39) |
|
probably benign |
Het |
| Sftpd |
A |
G |
14: 40,905,001 (GRCm39) |
V30A |
probably benign |
Het |
| Sirt6 |
A |
G |
10: 81,462,378 (GRCm39) |
V7A |
probably benign |
Het |
| Ska1 |
C |
T |
18: 74,330,639 (GRCm39) |
V188M |
probably damaging |
Het |
| Skint8 |
G |
A |
4: 111,794,241 (GRCm39) |
M210I |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,202,782 (GRCm39) |
|
probably null |
Het |
| Slc6a2 |
A |
T |
8: 93,715,702 (GRCm39) |
H280L |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,873,744 (GRCm39) |
V208A |
possibly damaging |
Het |
| Taf6l |
T |
A |
19: 8,752,135 (GRCm39) |
T518S |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,665,652 (GRCm39) |
V58A |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,266 (GRCm39) |
M59T |
probably benign |
Het |
| Unc5cl |
A |
G |
17: 48,769,361 (GRCm39) |
T282A |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,590,229 (GRCm39) |
K260E |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,926 (GRCm39) |
V631A |
probably damaging |
Het |
| Zfp938 |
A |
T |
10: 82,061,287 (GRCm39) |
F444L |
possibly 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 |
|
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 |
|
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'- CTTTAGGAATCCGCGTGTGC -3'
(R):5'- CACTTCATCAACTAGGAAAGGC -3'
Sequencing Primer
(F):5'- CAGCCATCTTCTCACAGGAG -3'
(R):5'- TTCATCAACTAGGAAAGGCTGAGAAC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation