Incidental Mutation 'R7376:Polr1b'
ID |
572367 |
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 |
045459-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7376 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 128960993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 651
(V651L)
|
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: V651L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000028874 Gene: ENSMUSG00000027395 AA Change: V651L
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: V651L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099494 Gene: ENSMUSG00000027395 AA Change: V651L
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (60/61) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,241,118 (GRCm39) |
I994V |
probably benign |
Het |
Acan |
T |
G |
7: 78,738,055 (GRCm39) |
|
probably null |
Het |
Adamts12 |
G |
A |
15: 11,277,425 (GRCm39) |
V680I |
possibly damaging |
Het |
Adgrg7 |
T |
C |
16: 56,545,342 (GRCm39) |
I712V |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,942,597 (GRCm39) |
H1477R |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,599,088 (GRCm39) |
S1305P |
probably benign |
Het |
Banp |
T |
A |
8: 122,701,236 (GRCm39) |
M39K |
probably damaging |
Het |
Bbs10 |
A |
G |
10: 111,135,111 (GRCm39) |
T75A |
probably benign |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
Bltp3b |
G |
A |
10: 89,645,518 (GRCm39) |
G1197D |
probably damaging |
Het |
Brinp2 |
C |
T |
1: 158,078,938 (GRCm39) |
C295Y |
probably damaging |
Het |
Card11 |
C |
T |
5: 140,883,993 (GRCm39) |
V429I |
probably benign |
Het |
Cdca3 |
G |
A |
6: 124,809,538 (GRCm39) |
R184H |
probably benign |
Het |
Cep104 |
A |
G |
4: 154,067,509 (GRCm39) |
|
probably null |
Het |
Clspn |
A |
G |
4: 126,484,430 (GRCm39) |
K1196R |
possibly damaging |
Het |
Cntnap5b |
A |
G |
1: 99,894,994 (GRCm39) |
T89A |
possibly damaging |
Het |
Cpne9 |
A |
T |
6: 113,266,974 (GRCm39) |
I136L |
probably damaging |
Het |
Crat |
T |
A |
2: 30,296,477 (GRCm39) |
I330F |
probably damaging |
Het |
Ctbp2 |
G |
T |
7: 132,615,697 (GRCm39) |
Q413K |
possibly damaging |
Het |
D630045J12Rik |
T |
C |
6: 38,151,238 (GRCm39) |
E1220G |
probably damaging |
Het |
Dap |
A |
G |
15: 31,235,985 (GRCm39) |
D41G |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,590,967 (GRCm39) |
I3287V |
probably benign |
Het |
Dsp |
A |
G |
13: 38,356,819 (GRCm39) |
H233R |
probably damaging |
Het |
Dst |
T |
C |
1: 34,231,770 (GRCm39) |
I3121T |
probably benign |
Het |
Espnl |
T |
G |
1: 91,250,036 (GRCm39) |
L61R |
probably damaging |
Het |
Evc2 |
T |
C |
5: 37,527,983 (GRCm39) |
S331P |
possibly damaging |
Het |
Gars1 |
A |
G |
6: 55,050,344 (GRCm39) |
E535G |
probably benign |
Het |
Hfm1 |
A |
G |
5: 107,043,084 (GRCm39) |
I650T |
possibly damaging |
Het |
Iyd |
T |
A |
10: 3,495,690 (GRCm39) |
I116N |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,553,792 (GRCm39) |
L1002S |
probably damaging |
Het |
Kifbp |
C |
T |
10: 62,394,843 (GRCm39) |
V600I |
possibly damaging |
Het |
Lgi1 |
G |
A |
19: 38,272,468 (GRCm39) |
G113D |
probably damaging |
Het |
Lgi2 |
G |
A |
5: 52,695,604 (GRCm39) |
R452C |
probably damaging |
Het |
Man2b2 |
T |
G |
5: 36,970,722 (GRCm39) |
N764T |
probably damaging |
Het |
Mrps18b |
A |
G |
17: 36,221,587 (GRCm39) |
I246T |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,426,287 (GRCm39) |
T4795A |
possibly damaging |
Het |
Mybl2 |
G |
A |
2: 162,924,513 (GRCm39) |
G627D |
possibly damaging |
Het |
Ndufb8 |
C |
T |
19: 44,543,794 (GRCm39) |
R16K |
probably benign |
Het |
Or5k17 |
A |
T |
16: 58,746,121 (GRCm39) |
V271E |
possibly damaging |
Het |
P4htm |
C |
T |
9: 108,457,991 (GRCm39) |
V335M |
probably damaging |
Het |
Pbx3 |
A |
G |
2: 34,094,889 (GRCm39) |
I249T |
probably damaging |
Het |
Plod3 |
G |
T |
5: 137,019,335 (GRCm39) |
V360L |
probably benign |
Het |
Podxl2 |
C |
T |
6: 88,826,632 (GRCm39) |
D161N |
probably benign |
Het |
Prr14 |
T |
C |
7: 127,075,749 (GRCm39) |
S586P |
probably benign |
Het |
Pum3 |
C |
T |
19: 27,371,728 (GRCm39) |
G575D |
probably benign |
Het |
Rnf157 |
C |
A |
11: 116,251,192 (GRCm39) |
A111S |
probably benign |
Het |
Robo3 |
A |
G |
9: 37,344,212 (GRCm39) |
L29P |
probably damaging |
Het |
Smarca5 |
T |
C |
8: 81,452,680 (GRCm39) |
N342S |
probably damaging |
Het |
Specc1 |
T |
A |
11: 62,009,078 (GRCm39) |
I198K |
probably benign |
Het |
Tmem177 |
A |
T |
1: 119,837,744 (GRCm39) |
*312R |
probably null |
Het |
Tom1l2 |
A |
T |
11: 60,152,026 (GRCm39) |
M172K |
probably benign |
Het |
Tsc22d4 |
T |
C |
5: 137,756,414 (GRCm39) |
V3A |
unknown |
Het |
Vmn1r128 |
G |
T |
7: 21,083,668 (GRCm39) |
G124V |
probably damaging |
Het |
Vmn1r15 |
T |
C |
6: 57,235,342 (GRCm39) |
I70T |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,844,631 (GRCm39) |
T665A |
probably damaging |
Het |
Vmn2r83 |
T |
C |
10: 79,314,790 (GRCm39) |
F346S |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,910,691 (GRCm39) |
D694E |
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 |
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 |
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'- GGATGTTCCCCATGCTTCTG -3'
(R):5'- TGGTAACAGAACAGACGTCTCATC -3'
Sequencing Primer
(F):5'- CTTCTGGCAGAGGTCGTTCC -3'
(R):5'- AGACGTCTCATCTGTGGGCATTC -3'
|
Posted On |
2019-09-13 |