Incidental Mutation 'R7772:Polr1b'
| ID |
598620 |
| 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 |
045828-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7772 (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: 99.3%
|
| Validation Efficiency |
99% (68/69) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
T |
A |
11: 3,839,784 (GRCm39) |
|
probably null |
Het |
| Adora3 |
T |
C |
3: 105,815,039 (GRCm39) |
V263A |
probably benign |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,227,235 (GRCm39) |
V1368A |
possibly damaging |
Het |
| Arid4a |
A |
T |
12: 71,108,363 (GRCm39) |
N56I |
possibly damaging |
Het |
| Art3 |
A |
T |
5: 92,551,472 (GRCm39) |
Y277F |
probably damaging |
Het |
| Atp2a1 |
A |
T |
7: 126,047,707 (GRCm39) |
|
probably null |
Het |
| Banf1 |
T |
C |
19: 5,415,150 (GRCm39) |
K54E |
possibly damaging |
Het |
| Bckdk |
A |
G |
7: 127,505,073 (GRCm39) |
Y151C |
probably damaging |
Het |
| C1qtnf3 |
C |
A |
15: 10,958,130 (GRCm39) |
P58T |
possibly damaging |
Het |
| Cadps2 |
T |
C |
6: 23,390,445 (GRCm39) |
R744G |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,031,029 (GRCm39) |
D118G |
probably damaging |
Het |
| Cnot9 |
G |
A |
1: 74,566,151 (GRCm39) |
V181I |
probably damaging |
Het |
| Cobl |
C |
T |
11: 12,204,488 (GRCm39) |
G738D |
probably benign |
Het |
| Col18a1 |
T |
A |
10: 76,904,220 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
A |
G |
2: 145,772,564 (GRCm39) |
V171A |
probably benign |
Het |
| Dhx57 |
C |
T |
17: 80,580,507 (GRCm39) |
D482N |
possibly damaging |
Het |
| Dpysl2 |
A |
T |
14: 67,066,425 (GRCm39) |
|
probably null |
Het |
| Drd3 |
G |
T |
16: 43,582,758 (GRCm39) |
A52S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,220,469 (GRCm39) |
V2091A |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,112,261 (GRCm39) |
T1810A |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,248,783 (GRCm39) |
W92R |
probably damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,320,103 (GRCm39) |
D51V |
possibly damaging |
Het |
| Gm11232 |
A |
T |
4: 71,674,818 (GRCm39) |
V228E |
possibly damaging |
Het |
| Gm14305 |
C |
T |
2: 176,412,764 (GRCm39) |
Q219* |
probably null |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr39 |
G |
T |
1: 125,605,334 (GRCm39) |
M87I |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,522 (GRCm39) |
M1089T |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,308,640 (GRCm39) |
M452K |
|
Het |
| Ints8 |
A |
T |
4: 11,227,190 (GRCm39) |
I561N |
probably damaging |
Het |
| Itgb2 |
A |
T |
10: 77,396,946 (GRCm39) |
K660N |
probably benign |
Het |
| Jun |
A |
C |
4: 94,939,081 (GRCm39) |
V143G |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,851,952 (GRCm39) |
M2076T |
probably benign |
Het |
| Krt10 |
G |
T |
11: 99,279,913 (GRCm39) |
S82R |
unknown |
Het |
| Lipm |
T |
A |
19: 34,095,291 (GRCm39) |
H295Q |
probably damaging |
Het |
| Mybpc2 |
A |
C |
7: 44,165,348 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
C |
9: 72,584,608 (GRCm39) |
V103A |
possibly damaging |
Het |
| Nol10 |
T |
C |
12: 17,398,586 (GRCm39) |
I11T |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,067,233 (GRCm39) |
S758G |
probably damaging |
Het |
| Or13d1 |
T |
A |
4: 52,970,713 (GRCm39) |
C31S |
probably damaging |
Het |
| Or52r1c |
T |
G |
7: 102,735,388 (GRCm39) |
I216S |
probably benign |
Het |
| Or8d4 |
T |
C |
9: 40,038,661 (GRCm39) |
I199V |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,923,384 (GRCm39) |
H425R |
probably damaging |
Het |
| Parp1 |
G |
T |
1: 180,416,963 (GRCm39) |
R582S |
possibly damaging |
Het |
| Piwil1 |
A |
T |
5: 128,816,527 (GRCm39) |
R36S |
probably benign |
Het |
| Pjvk |
T |
C |
2: 76,487,877 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
G |
T |
1: 133,097,760 (GRCm39) |
E31D |
possibly damaging |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Psmc6 |
T |
A |
14: 45,581,107 (GRCm39) |
I301N |
probably damaging |
Het |
| Rfpl4 |
C |
A |
7: 5,118,543 (GRCm39) |
S9I |
probably benign |
Het |
| Rnf14 |
G |
T |
18: 38,442,629 (GRCm39) |
C310F |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,715,144 (GRCm39) |
F845L |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,758,777 (GRCm39) |
I665V |
probably benign |
Het |
| Rtl1 |
T |
A |
12: 109,559,619 (GRCm39) |
H740L |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,765,897 (GRCm39) |
S1280P |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,371,335 (GRCm39) |
R126H |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,139,276 (GRCm39) |
F165L |
probably damaging |
Het |
| Snx19 |
T |
C |
9: 30,340,221 (GRCm39) |
I453T |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,987,434 (GRCm39) |
Y1575H |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,704,567 (GRCm39) |
I415M |
probably damaging |
Het |
| Ssx2ip |
T |
G |
3: 146,138,885 (GRCm39) |
I459S |
probably damaging |
Het |
| Stfa1 |
A |
G |
16: 36,097,363 (GRCm39) |
|
probably null |
Het |
| Tmem156 |
A |
T |
5: 65,237,517 (GRCm39) |
S48T |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,545,918 (GRCm39) |
|
probably null |
Het |
| Unc93a |
A |
T |
17: 13,328,639 (GRCm39) |
F405I |
possibly damaging |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,664 (GRCm39) |
I9F |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,533,482 (GRCm39) |
D462G |
probably damaging |
Het |
| Wdr90 |
T |
A |
17: 26,080,465 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
T |
C |
7: 12,152,535 (GRCm39) |
D66G |
probably damaging |
Het |
| Znrf4 |
A |
C |
17: 56,819,247 (GRCm39) |
V20G |
possibly damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,770 (GRCm39) |
E200G |
probably benign |
Het |
| Zup1 |
A |
T |
10: 33,797,698 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AAGTTTGCCAGCCGACATGG -3'
(R):5'- CTGGCTCCAGTTGTTCTGAC -3'
Sequencing Primer
(F):5'- CGACATGGTCAGAAGGGCATTTTG -3'
(R):5'- CTGACTTGAAATTTGTCTGACACC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation