Incidental Mutation 'R7777:Polr1b'
| ID |
598935 |
| 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 |
045833-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7777 (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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
C |
T |
12: 113,453,758 (GRCm39) |
P192S |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,995,373 (GRCm39) |
T353A |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,877,828 (GRCm39) |
D55G |
probably damaging |
Het |
| Dcaf4 |
T |
C |
12: 83,584,733 (GRCm39) |
V322A |
probably damaging |
Het |
| Ephb2 |
T |
A |
4: 136,498,947 (GRCm39) |
E44V |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,328,573 (GRCm39) |
I105V |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,900,763 (GRCm39) |
D2994G |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,228,641 (GRCm39) |
D1697N |
probably damaging |
Het |
| Gapdh |
A |
T |
6: 125,139,911 (GRCm39) |
Y164* |
probably null |
Het |
| Gm4353 |
T |
G |
7: 115,682,998 (GRCm39) |
Q194H |
possibly damaging |
Het |
| Ilvbl |
T |
A |
10: 78,413,085 (GRCm39) |
|
probably null |
Het |
| Ism2 |
T |
A |
12: 87,333,658 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,254,268 (GRCm39) |
T196I |
probably benign |
Het |
| Lcor |
T |
G |
19: 41,547,234 (GRCm39) |
Y273D |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,873,446 (GRCm39) |
M27K |
possibly damaging |
Het |
| Muc17 |
G |
A |
5: 137,175,564 (GRCm39) |
|
silent |
Het |
| Or11h4b |
A |
T |
14: 50,918,261 (GRCm39) |
Y277N |
probably damaging |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or5m10 |
A |
G |
2: 85,717,951 (GRCm39) |
E269G |
possibly damaging |
Het |
| Oscp1 |
T |
C |
4: 125,958,774 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,913 (GRCm39) |
P186Q |
probably damaging |
Het |
| Plcb1 |
G |
A |
2: 135,062,677 (GRCm39) |
G96R |
possibly damaging |
Het |
| Plcd3 |
G |
C |
11: 102,965,481 (GRCm39) |
R535G |
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,596,523 (GRCm39) |
M681V |
possibly damaging |
Het |
| Polrmt |
A |
T |
10: 79,575,022 (GRCm39) |
D836E |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,144,331 (GRCm39) |
Y226H |
possibly damaging |
Het |
| Prkag1 |
A |
T |
15: 98,712,478 (GRCm39) |
I149N |
probably damaging |
Het |
| Prkci |
A |
T |
3: 31,104,362 (GRCm39) |
Q575L |
possibly damaging |
Het |
| Prss40 |
C |
T |
1: 34,591,846 (GRCm39) |
W276* |
probably null |
Het |
| Ptprn |
T |
C |
1: 75,228,946 (GRCm39) |
D823G |
possibly damaging |
Het |
| Radil |
A |
C |
5: 142,529,303 (GRCm39) |
F131C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 52,006,368 (GRCm39) |
I550V |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,361,713 (GRCm39) |
E320G |
probably damaging |
Het |
| Sec31b |
T |
A |
19: 44,512,212 (GRCm39) |
K561* |
probably null |
Het |
| Spata31g1 |
C |
T |
4: 42,970,171 (GRCm39) |
Q53* |
probably null |
Het |
| Spata31g1 |
T |
C |
4: 42,971,095 (GRCm39) |
S143P |
probably benign |
Het |
| Tbx5 |
A |
C |
5: 120,021,232 (GRCm39) |
T413P |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,480,963 (GRCm39) |
|
probably null |
Het |
| Tnfaip8l2 |
T |
C |
3: 95,047,307 (GRCm39) |
*185W |
probably null |
Het |
| Tpst2 |
A |
G |
5: 112,457,560 (GRCm39) |
E296G |
possibly damaging |
Het |
| Ubn2 |
T |
A |
6: 38,467,688 (GRCm39) |
S801T |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,332,638 (GRCm39) |
S1141G |
|
Het |
| Uts2r |
A |
G |
11: 121,052,279 (GRCm39) |
N381S |
probably benign |
Het |
| Vmn2r44 |
G |
T |
7: 8,381,314 (GRCm39) |
T193K |
possibly damaging |
Het |
| Wdr18 |
T |
A |
10: 79,801,884 (GRCm39) |
M223K |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,617,564 (GRCm39) |
C715R |
possibly damaging |
Het |
| Zfp672 |
A |
G |
11: 58,208,081 (GRCm39) |
F80S |
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 |
|
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'- AAGTTTGCCAGCCGACATG -3'
(R):5'- CTGGCTCCAGTTGTTCTGAC -3'
Sequencing Primer
(F):5'- CGACATGGTCAGAAGGGCATTTTG -3'
(R):5'- CTGACTTGAAATTTGTCTGACACC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation