Incidental Mutation 'R4773:Polr1b'
| ID |
367653 |
| 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 |
042411-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4773 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128947248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 191
(I191T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000103205]
|
| AlphaFold |
P70700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028874
AA Change: I191T
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: I191T
| 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: I191T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: I191T
| 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 |
0.1193 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
100% (89/89) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
A |
G |
11: 50,982,089 (GRCm39) |
|
noncoding transcript |
Het |
| Actl7b |
T |
C |
4: 56,740,972 (GRCm39) |
I129V |
probably benign |
Het |
| Adipor2 |
A |
G |
6: 119,336,047 (GRCm39) |
L225P |
probably benign |
Het |
| Arhgap25 |
A |
G |
6: 87,473,053 (GRCm39) |
F35L |
probably benign |
Het |
| Asah2 |
A |
T |
19: 32,030,258 (GRCm39) |
M138K |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,243,905 (GRCm39) |
M1486K |
probably damaging |
Het |
| B4galt4 |
T |
A |
16: 38,572,658 (GRCm39) |
S114R |
probably benign |
Het |
| Brpf3 |
T |
G |
17: 29,040,233 (GRCm39) |
S885A |
probably benign |
Het |
| Cacna1g |
G |
T |
11: 94,302,298 (GRCm39) |
H1944N |
possibly damaging |
Het |
| Cby2 |
T |
A |
14: 75,820,546 (GRCm39) |
Y393F |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,396,245 (GRCm39) |
C712Y |
probably damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,182,822 (GRCm39) |
I399N |
probably damaging |
Het |
| Cct8l1 |
A |
T |
5: 25,722,754 (GRCm39) |
T490S |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Copa |
A |
G |
1: 171,932,787 (GRCm39) |
N371D |
probably damaging |
Het |
| Cpeb1 |
A |
T |
7: 81,005,695 (GRCm39) |
H381Q |
probably benign |
Het |
| Cyp2d40 |
T |
A |
15: 82,645,763 (GRCm39) |
I81F |
possibly damaging |
Het |
| Dscc1 |
A |
T |
15: 54,943,654 (GRCm39) |
D405E |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,672,464 (GRCm39) |
D369G |
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,522,592 (GRCm39) |
V17A |
possibly damaging |
Het |
| Fam111a |
A |
T |
19: 12,565,772 (GRCm39) |
N507I |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,445,038 (GRCm39) |
V719A |
possibly damaging |
Het |
| Fscb |
C |
T |
12: 64,520,464 (GRCm39) |
G334D |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,043,782 (GRCm39) |
|
probably null |
Het |
| Gm8126 |
T |
A |
14: 43,119,072 (GRCm39) |
Y180* |
probably null |
Het |
| Grip2 |
G |
A |
6: 91,759,413 (GRCm39) |
P347L |
possibly damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,576 (GRCm39) |
S105P |
probably damaging |
Het |
| H60b |
C |
T |
10: 22,164,644 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,755,596 (GRCm39) |
|
probably null |
Het |
| Itga6 |
T |
C |
2: 71,652,788 (GRCm39) |
V217A |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,503,946 (GRCm39) |
W1083* |
probably null |
Het |
| Limch1 |
A |
T |
5: 67,184,850 (GRCm39) |
D613V |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,349,403 (GRCm39) |
C310S |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,839,876 (GRCm39) |
C220S |
probably benign |
Het |
| Mbd5 |
A |
C |
2: 49,164,623 (GRCm39) |
H308P |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,167,746 (GRCm39) |
D2003G |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,708,127 (GRCm39) |
V442D |
possibly damaging |
Het |
| Mstn |
A |
T |
1: 53,101,267 (GRCm39) |
T115S |
probably benign |
Het |
| Mtcl2 |
G |
T |
2: 156,872,489 (GRCm39) |
Q953K |
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,122,050 (GRCm39) |
S285P |
probably damaging |
Het |
| Odad4 |
C |
A |
11: 100,440,742 (GRCm39) |
N74K |
probably benign |
Het |
| Or10j3 |
A |
C |
1: 173,031,796 (GRCm39) |
Y291S |
probably damaging |
Het |
| Or51a24 |
A |
G |
7: 103,733,502 (GRCm39) |
S262P |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,552,026 (GRCm39) |
V321A |
probably benign |
Het |
| Pcdha8 |
G |
T |
18: 37,127,626 (GRCm39) |
A703S |
probably damaging |
Het |
| Pcdhb18 |
A |
G |
18: 37,623,507 (GRCm39) |
Y279C |
probably damaging |
Het |
| Pdgfa |
T |
C |
5: 138,979,051 (GRCm39) |
D51G |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,289,292 (GRCm39) |
Y703H |
probably damaging |
Het |
| Pecr |
G |
T |
1: 72,306,594 (GRCm39) |
P229Q |
probably damaging |
Het |
| Phkg1 |
G |
T |
5: 129,902,114 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
A |
T |
15: 89,051,150 (GRCm39) |
H356Q |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,049,026 (GRCm39) |
L35P |
possibly damaging |
Het |
| Rasa2 |
C |
T |
9: 96,426,470 (GRCm39) |
G792D |
probably benign |
Het |
| Rps11-ps4 |
T |
C |
12: 51,344,406 (GRCm39) |
|
noncoding transcript |
Het |
| Sema3g |
A |
G |
14: 30,942,666 (GRCm39) |
D89G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,908,219 (GRCm39) |
V108A |
probably damaging |
Het |
| Smg9 |
T |
A |
7: 24,107,019 (GRCm39) |
M221K |
possibly damaging |
Het |
| Sos1 |
A |
G |
17: 80,705,660 (GRCm39) |
S1304P |
probably damaging |
Het |
| Sqle |
C |
A |
15: 59,189,688 (GRCm39) |
A110E |
possibly damaging |
Het |
| Stab2 |
G |
A |
10: 86,743,235 (GRCm39) |
Q1154* |
probably null |
Het |
| Taf4b |
A |
G |
18: 14,937,577 (GRCm39) |
T217A |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,072,760 (GRCm39) |
V2769A |
probably benign |
Het |
| Tmem156 |
A |
T |
5: 65,237,502 (GRCm39) |
C53S |
probably damaging |
Het |
| Tmtc3 |
T |
A |
10: 100,293,001 (GRCm39) |
K452N |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tph1 |
T |
C |
7: 46,306,376 (GRCm39) |
E195G |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,609,852 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,874,606 (GRCm39) |
T93I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,571,778 (GRCm39) |
N26372Y |
probably damaging |
Het |
| Tubd1 |
T |
C |
11: 86,446,128 (GRCm39) |
L256P |
possibly damaging |
Het |
| Txnrd2 |
C |
G |
16: 18,259,569 (GRCm39) |
A126G |
probably benign |
Het |
| Vmn1r210 |
T |
G |
13: 23,011,374 (GRCm39) |
K304T |
probably benign |
Het |
| Vps25 |
T |
C |
11: 101,149,655 (GRCm39) |
S160P |
probably benign |
Het |
| Vrk3 |
T |
A |
7: 44,424,900 (GRCm39) |
D438E |
probably benign |
Het |
| Vwa5b1 |
A |
G |
4: 138,309,066 (GRCm39) |
L708P |
probably benign |
Het |
| Washc3 |
C |
T |
10: 88,055,124 (GRCm39) |
Q105* |
probably null |
Het |
| Wdr83os |
T |
A |
8: 85,807,410 (GRCm39) |
|
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,758,123 (GRCm39) |
H741R |
probably benign |
Het |
| Zan |
T |
C |
5: 137,434,575 (GRCm39) |
|
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,311,931 (GRCm39) |
L14I |
possibly damaging |
Het |
| Zfp568 |
T |
A |
7: 29,697,195 (GRCm39) |
D38E |
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 |
|
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 |
|
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'- ACTTACCCTGGAGCTTGTTCTG -3'
(R):5'- GTTTACACATGGATCAACACTCCC -3'
Sequencing Primer
(F):5'- TCTGTTTCCAGAGCCCGG -3'
(R):5'- TTCACCCTGAACATCATAGAAGTG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation