Incidental Mutation 'R7184:Polr1b'
| ID |
559156 |
| 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 |
045236-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128965842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 828
(Y828C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[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 |
possibly damaging
Transcript: ENSMUST00000103205
AA Change: Y828C
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: Y828C
| 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 |
0.8121 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,094,219 (GRCm39) |
S500P |
possibly damaging |
Het |
| Aldh9a1 |
T |
A |
1: 167,184,965 (GRCm39) |
N292K |
probably benign |
Het |
| Art2b |
A |
T |
7: 101,229,658 (GRCm39) |
S80R |
probably benign |
Het |
| Atp6v1b2 |
G |
T |
8: 69,555,219 (GRCm39) |
A194S |
possibly damaging |
Het |
| Bsnd |
T |
C |
4: 106,349,109 (GRCm39) |
M44V |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,583,428 (GRCm39) |
V383E |
probably benign |
Het |
| Cd93 |
T |
C |
2: 148,284,459 (GRCm39) |
T296A |
possibly damaging |
Het |
| Cdk15 |
G |
T |
1: 59,304,814 (GRCm39) |
E138D |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,375,191 (GRCm39) |
I406V |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,822 (GRCm39) |
V622A |
possibly damaging |
Het |
| Cyp3a41a |
A |
G |
5: 145,642,663 (GRCm39) |
V232A |
probably benign |
Het |
| Dbndd1 |
T |
A |
8: 124,235,860 (GRCm39) |
D130V |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,532,094 (GRCm39) |
R2294* |
probably null |
Het |
| Eddm3b |
A |
G |
14: 51,354,387 (GRCm39) |
Y125C |
probably damaging |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
| Enah |
A |
T |
1: 181,749,957 (GRCm39) |
V294E |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,531,137 (GRCm39) |
E545G |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,458,994 (GRCm39) |
E22G |
possibly damaging |
Het |
| Fcsk |
G |
A |
8: 111,613,788 (GRCm39) |
P758S |
probably damaging |
Het |
| Fezf1 |
A |
G |
6: 23,247,835 (GRCm39) |
V80A |
probably benign |
Het |
| Fpr2 |
T |
C |
17: 18,113,533 (GRCm39) |
Y39H |
unknown |
Het |
| Fsd1l |
C |
A |
4: 53,694,054 (GRCm39) |
R344S |
probably damaging |
Het |
| Fxyd1 |
G |
T |
7: 30,751,401 (GRCm39) |
R90S |
unknown |
Het |
| Galnt4 |
T |
A |
10: 98,944,466 (GRCm39) |
Y64N |
probably damaging |
Het |
| Gatb |
C |
T |
3: 85,544,258 (GRCm39) |
Q409* |
probably null |
Het |
| Glipr2 |
A |
C |
4: 43,968,667 (GRCm39) |
D73A |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpr88 |
C |
T |
3: 116,045,643 (GRCm39) |
V223I |
possibly damaging |
Het |
| Gtf2h3 |
A |
G |
5: 124,722,067 (GRCm39) |
N55S |
probably benign |
Het |
| Htr4 |
T |
A |
18: 62,570,498 (GRCm39) |
C184* |
probably null |
Het |
| Ighv6-3 |
T |
A |
12: 114,355,475 (GRCm39) |
R71S |
probably benign |
Het |
| Itpr2 |
G |
C |
6: 146,212,585 (GRCm39) |
I1510M |
possibly damaging |
Het |
| Keap1 |
T |
C |
9: 21,145,134 (GRCm39) |
Q292R |
probably benign |
Het |
| Mab21l4 |
T |
C |
1: 93,082,237 (GRCm39) |
N294S |
probably benign |
Het |
| Malt1 |
A |
C |
18: 65,580,764 (GRCm39) |
E219D |
probably benign |
Het |
| Manba |
T |
C |
3: 135,228,915 (GRCm39) |
V279A |
possibly damaging |
Het |
| Map4k5 |
T |
A |
12: 69,921,095 (GRCm39) |
H41L |
probably benign |
Het |
| Mcm2 |
T |
G |
6: 88,868,776 (GRCm39) |
Y327S |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,215,484 (GRCm39) |
I503T |
possibly damaging |
Het |
| Nqo1 |
T |
C |
8: 108,119,279 (GRCm39) |
I99M |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,540,582 (GRCm39) |
H845R |
probably damaging |
Het |
| Otogl |
C |
T |
10: 107,599,061 (GRCm39) |
C2254Y |
probably damaging |
Het |
| Pmm1 |
T |
C |
15: 81,840,415 (GRCm39) |
N110S |
probably damaging |
Het |
| Poc1b |
G |
T |
10: 98,970,199 (GRCm39) |
C68F |
probably benign |
Het |
| Prl3d1 |
A |
G |
13: 27,282,619 (GRCm39) |
H119R |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,403,412 (GRCm39) |
S30P |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,194 (GRCm39) |
E196G |
possibly damaging |
Het |
| Sf3a3 |
A |
G |
4: 124,608,772 (GRCm39) |
K29E |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,092,311 (GRCm39) |
I475K |
probably damaging |
Het |
| Slc26a5 |
G |
T |
5: 22,042,244 (GRCm39) |
Y237* |
probably null |
Het |
| Slc7a14 |
C |
T |
3: 31,281,212 (GRCm39) |
G366D |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,107,110 (GRCm39) |
V482A |
probably benign |
Het |
| Tdrd5 |
G |
T |
1: 156,087,505 (GRCm39) |
Q883K |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,179,391 (GRCm39) |
Y1258C |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,028,131 (GRCm39) |
D739G |
unknown |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,820 (GRCm39) |
F78L |
probably benign |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,915 (GRCm39) |
K216* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,201,281 (GRCm39) |
Y408N |
probably damaging |
Het |
| Wscd1 |
T |
A |
11: 71,679,543 (GRCm39) |
V472D |
probably damaging |
Het |
| Zdbf2 |
G |
T |
1: 63,345,664 (GRCm39) |
V1348F |
possibly damaging |
Het |
| Zfp442 |
G |
T |
2: 150,250,056 (GRCm39) |
H615Q |
possibly damaging |
Het |
| Zfp457 |
C |
A |
13: 67,442,065 (GRCm39) |
C170F |
possibly damaging |
Het |
| Zscan10 |
A |
G |
17: 23,826,003 (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 |
|
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'- AACAAGGCTTCCTGGGAACG -3'
(R):5'- GGCCTATACTCCCGTCACTTAAG -3'
Sequencing Primer
(F):5'- TTCGCTCATGGAAGCGTC -3'
(R):5'- TCCCGTCACTTAAGAGGCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation