Incidental Mutation 'R7774:Polr1b'
| ID |
598746 |
| 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 |
045830-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 128967464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 952
(F952L)
|
| 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: F952L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: F952L
| 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 |
|
| Meta Mutation Damage Score |
0.8328 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
G |
T |
15: 98,494,414 (GRCm39) |
T809N |
probably benign |
Het |
| Adgb |
C |
A |
10: 10,215,404 (GRCm39) |
E1561* |
probably null |
Het |
| Adgra1 |
A |
T |
7: 139,427,628 (GRCm39) |
H65L |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,688,103 (GRCm39) |
G856V |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,754,161 (GRCm39) |
K177E |
unknown |
Het |
| Ccdc122 |
T |
C |
14: 77,305,379 (GRCm39) |
V11A |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,677,804 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
T |
C |
10: 76,545,710 (GRCm39) |
T921A |
unknown |
Het |
| Cul3 |
A |
C |
1: 80,247,011 (GRCm39) |
D697E |
probably benign |
Het |
| Defa34 |
G |
A |
8: 22,155,978 (GRCm39) |
E56K |
probably benign |
Het |
| Dhrs7c |
A |
G |
11: 67,700,641 (GRCm39) |
R63G |
probably damaging |
Het |
| Dnaaf11 |
T |
G |
15: 66,321,401 (GRCm39) |
I247L |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,550,975 (GRCm39) |
K136* |
probably null |
Het |
| Exoc7 |
T |
C |
11: 116,186,142 (GRCm39) |
D353G |
possibly damaging |
Het |
| Fbxw21 |
T |
C |
9: 108,972,908 (GRCm39) |
Y342C |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,311,986 (GRCm39) |
I76F |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,240,727 (GRCm39) |
I1291N |
probably benign |
Het |
| Fzd2 |
A |
T |
11: 102,496,314 (GRCm39) |
I253F |
possibly damaging |
Het |
| Gm5592 |
A |
T |
7: 40,939,283 (GRCm39) |
Y855F |
probably damaging |
Het |
| H1f6 |
A |
G |
13: 23,880,183 (GRCm39) |
K112R |
possibly damaging |
Het |
| H4c16 |
G |
T |
6: 136,781,281 (GRCm39) |
P33T |
possibly damaging |
Het |
| Helz2 |
T |
C |
2: 180,875,784 (GRCm39) |
Y1570C |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,970,140 (GRCm39) |
T228A |
probably benign |
Het |
| Ipo13 |
G |
T |
4: 117,771,494 (GRCm39) |
N25K |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,700,968 (GRCm39) |
I917N |
probably damaging |
Het |
| Krt39 |
T |
C |
11: 99,405,437 (GRCm39) |
|
probably null |
Het |
| Krtap13-1 |
C |
T |
16: 88,526,061 (GRCm39) |
T95I |
possibly damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,863 (GRCm39) |
E107* |
probably null |
Het |
| Ly6a |
A |
T |
15: 74,869,416 (GRCm39) |
I13N |
probably damaging |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,407 (GRCm39) |
T275A |
probably benign |
Het |
| Mgat3 |
C |
T |
15: 80,095,743 (GRCm39) |
T190M |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,396,116 (GRCm39) |
R124H |
unknown |
Het |
| Mucl1 |
G |
T |
15: 103,783,950 (GRCm39) |
N85K |
possibly damaging |
Het |
| Nifk |
G |
A |
1: 118,255,391 (GRCm39) |
E96K |
possibly damaging |
Het |
| Opn3 |
C |
T |
1: 175,490,471 (GRCm39) |
V397M |
probably damaging |
Het |
| Or52ad1 |
T |
C |
7: 102,995,737 (GRCm39) |
R133G |
possibly damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,739 (GRCm39) |
F251I |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,655 (GRCm39) |
V274A |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,074,579 (GRCm39) |
M737V |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,492,757 (GRCm39) |
D98V |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,404,303 (GRCm39) |
T2311A |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,360,802 (GRCm39) |
C195* |
probably null |
Het |
| Pramel23 |
C |
T |
4: 143,423,676 (GRCm39) |
S371N |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,530 (GRCm39) |
T1166A |
probably damaging |
Het |
| Ran |
G |
A |
5: 129,099,874 (GRCm39) |
D215N |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,318,309 (GRCm39) |
F604L |
possibly damaging |
Het |
| Rgl1 |
T |
A |
1: 152,430,101 (GRCm39) |
E227D |
probably benign |
Het |
| Sec24b |
C |
A |
3: 129,777,846 (GRCm39) |
R1204L |
possibly damaging |
Het |
| Shroom3 |
T |
C |
5: 93,098,348 (GRCm39) |
L1276P |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,084,814 (GRCm39) |
M820K |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,092,142 (GRCm39) |
M541K |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,440,847 (GRCm39) |
V351A |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,899,606 (GRCm39) |
D658G |
probably benign |
Het |
| Tlr6 |
T |
G |
5: 65,110,728 (GRCm39) |
E726D |
probably damaging |
Het |
| Tmem218 |
T |
A |
9: 37,133,864 (GRCm39) |
H101Q |
probably benign |
Het |
| Tnfrsf4 |
C |
T |
4: 156,098,795 (GRCm39) |
Q82* |
probably null |
Het |
| Trpm7 |
A |
G |
2: 126,655,158 (GRCm39) |
V1260A |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,258,563 (GRCm39) |
E282V |
probably damaging |
Het |
| Tuba8 |
T |
C |
6: 121,200,348 (GRCm39) |
V344A |
probably damaging |
Het |
| Tvp23a |
A |
G |
16: 10,245,245 (GRCm39) |
|
probably null |
Het |
| Zfp174 |
G |
A |
16: 3,667,215 (GRCm39) |
V135M |
probably damaging |
Het |
| Zfp418 |
G |
A |
7: 7,185,776 (GRCm39) |
V580I |
possibly damaging |
Het |
| Zfp451 |
T |
A |
1: 33,844,474 (GRCm39) |
E44D |
probably benign |
Het |
| Zfp521 |
T |
C |
18: 13,978,838 (GRCm39) |
D525G |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGTTTGCCAGCCGACATG -3'
(R):5'- CTGGCTCCAGTTGTTCTGAC -3'
Sequencing Primer
(F):5'- CGACATGGTCAGAAGGGCATTTTG -3'
(R):5'- CTGACTTGAAATTTGTCTGACACC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation