Incidental Mutation 'R7033:Polr1b'
ID |
546429 |
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 |
045134-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7033 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128957562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 539
(V539A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000103205]
|
AlphaFold |
P70700 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028874
AA Change: V539A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028874 Gene: ENSMUSG00000027395 AA Change: V539A
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: V539A
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099494 Gene: ENSMUSG00000027395 AA Change: V539A
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 |
0.0808 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
96% (70/73) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024B05Rik |
A |
G |
14: 41,819,374 (GRCm39) |
Y105C |
probably damaging |
Het |
Acr |
T |
C |
15: 89,453,703 (GRCm39) |
S81P |
probably benign |
Het |
Akr1c14 |
T |
C |
13: 4,129,178 (GRCm39) |
|
probably null |
Het |
Ank2 |
C |
A |
3: 126,738,499 (GRCm39) |
E2375* |
probably null |
Het |
Avpi1 |
A |
G |
19: 42,113,416 (GRCm39) |
W14R |
probably damaging |
Het |
Brd4 |
A |
G |
17: 32,417,989 (GRCm39) |
V55A |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,639,392 (GRCm39) |
N149D |
probably damaging |
Het |
Ccl25 |
A |
T |
8: 4,399,641 (GRCm39) |
|
probably benign |
Het |
Celf5 |
A |
G |
10: 81,298,548 (GRCm39) |
L299P |
probably damaging |
Het |
Cfap418 |
A |
G |
4: 10,898,014 (GRCm39) |
T199A |
probably benign |
Het |
Cfap57 |
T |
G |
4: 118,470,323 (GRCm39) |
T186P |
possibly damaging |
Het |
Chrm4 |
A |
G |
2: 91,758,692 (GRCm39) |
M367V |
probably benign |
Het |
Col1a2 |
A |
T |
6: 4,516,904 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
G |
A |
16: 59,374,528 (GRCm39) |
P2242L |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,795,358 (GRCm39) |
V1031A |
probably damaging |
Het |
Dbnl |
C |
A |
11: 5,748,102 (GRCm39) |
P313T |
probably benign |
Het |
Dnah1 |
A |
G |
14: 30,986,882 (GRCm39) |
F3637L |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,518,820 (GRCm39) |
I2979N |
probably damaging |
Het |
Dusp10 |
T |
C |
1: 183,769,802 (GRCm39) |
V256A |
possibly damaging |
Het |
Dync2i1 |
T |
C |
12: 116,175,511 (GRCm39) |
M889V |
probably benign |
Het |
Erlin2 |
T |
C |
8: 27,521,792 (GRCm39) |
V164A |
probably benign |
Het |
Fam110a |
T |
C |
2: 151,812,131 (GRCm39) |
D213G |
probably damaging |
Het |
Fkbp1a |
T |
C |
2: 151,399,420 (GRCm39) |
|
probably null |
Het |
Foxg1 |
G |
A |
12: 49,431,503 (GRCm39) |
|
probably benign |
Het |
Gm12185 |
T |
C |
11: 48,806,826 (GRCm39) |
S122G |
probably benign |
Het |
Gm2042 |
A |
T |
12: 87,927,051 (GRCm39) |
D456V |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,900,036 (GRCm39) |
Y282H |
probably damaging |
Het |
Gys2 |
T |
C |
6: 142,418,448 (GRCm39) |
D27G |
probably benign |
Het |
H2-DMa |
T |
A |
17: 34,355,971 (GRCm39) |
|
probably null |
Het |
Hectd4 |
T |
A |
5: 121,502,631 (GRCm39) |
I4245N |
possibly damaging |
Het |
Incenp |
A |
G |
19: 9,870,736 (GRCm39) |
Y298H |
unknown |
Het |
Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
Kifc1 |
A |
T |
17: 34,102,671 (GRCm39) |
V314E |
probably damaging |
Het |
Lurap1l |
C |
T |
4: 80,829,604 (GRCm39) |
P5S |
probably benign |
Het |
Mtmr11 |
A |
G |
3: 96,077,262 (GRCm39) |
Y540C |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,576,698 (GRCm39) |
|
probably benign |
Het |
Myh13 |
A |
G |
11: 67,260,142 (GRCm39) |
E1860G |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nbeal1 |
G |
A |
1: 60,350,106 (GRCm39) |
G2385D |
probably damaging |
Het |
Ncaph2 |
G |
A |
15: 89,255,559 (GRCm39) |
A578T |
probably benign |
Het |
Ncr1 |
T |
C |
7: 4,341,144 (GRCm39) |
V8A |
possibly damaging |
Het |
Nutm1 |
T |
C |
2: 112,086,513 (GRCm39) |
T73A |
probably damaging |
Het |
Olfm1 |
G |
A |
2: 28,119,348 (GRCm39) |
D313N |
probably damaging |
Het |
Or11h4 |
A |
G |
14: 50,974,164 (GRCm39) |
F152L |
possibly damaging |
Het |
Or13f5 |
A |
G |
4: 52,826,089 (GRCm39) |
M231V |
probably benign |
Het |
Or4a66 |
T |
A |
2: 88,531,164 (GRCm39) |
N170Y |
probably damaging |
Het |
Otog |
T |
A |
7: 45,916,822 (GRCm39) |
|
probably null |
Het |
Peak1 |
G |
T |
9: 56,166,991 (GRCm39) |
D312E |
probably damaging |
Het |
Plekhg1 |
T |
C |
10: 3,890,251 (GRCm39) |
I331T |
probably damaging |
Het |
Polr2a |
A |
T |
11: 69,638,039 (GRCm39) |
H143Q |
possibly damaging |
Het |
Ppargc1b |
G |
T |
18: 61,440,785 (GRCm39) |
A711D |
probably damaging |
Het |
Prnd |
T |
A |
2: 131,795,362 (GRCm39) |
C161S |
possibly damaging |
Het |
Prrt4 |
A |
G |
6: 29,171,147 (GRCm39) |
L435P |
possibly damaging |
Het |
Psen2 |
C |
T |
1: 180,055,085 (GRCm39) |
|
probably null |
Het |
Psg23 |
T |
C |
7: 18,348,669 (GRCm39) |
E46G |
possibly damaging |
Het |
Rasgef1b |
C |
T |
5: 99,380,195 (GRCm39) |
R350H |
probably damaging |
Het |
Rfxank |
G |
C |
8: 70,590,820 (GRCm39) |
P16A |
probably benign |
Het |
Sema6a |
A |
G |
18: 47,381,637 (GRCm39) |
I944T |
probably damaging |
Het |
Serpinc1 |
A |
G |
1: 160,825,091 (GRCm39) |
T313A |
probably benign |
Het |
Slc27a4 |
T |
C |
2: 29,694,283 (GRCm39) |
S36P |
possibly damaging |
Het |
Slc36a1 |
C |
A |
11: 55,114,563 (GRCm39) |
R214S |
probably benign |
Het |
Sorl1 |
C |
T |
9: 41,942,279 (GRCm39) |
S982N |
possibly damaging |
Het |
Speer1k |
G |
T |
5: 11,000,518 (GRCm39) |
|
probably null |
Het |
Syt1 |
A |
C |
10: 108,526,797 (GRCm39) |
D37E |
probably benign |
Het |
Tcl1b5 |
A |
T |
12: 105,142,750 (GRCm39) |
D26V |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,544,430 (GRCm39) |
K2149* |
probably null |
Het |
Ubc |
T |
A |
5: 125,465,238 (GRCm39) |
I30F |
probably damaging |
Het |
Ugt1a7c |
A |
T |
1: 88,023,250 (GRCm39) |
E136D |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
Vmn1r159 |
C |
T |
7: 22,542,289 (GRCm39) |
V248I |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,428,874 (GRCm39) |
H734R |
probably damaging |
Het |
Xrcc2 |
T |
G |
5: 25,897,707 (GRCm39) |
I81L |
possibly damaging |
Het |
Zfat |
A |
C |
15: 68,052,864 (GRCm39) |
I310S |
probably damaging |
Het |
Zfp119a |
A |
G |
17: 56,173,009 (GRCm39) |
V278A |
probably benign |
Het |
Zfp53 |
A |
G |
17: 21,720,508 (GRCm39) |
K33E |
probably benign |
Het |
Zfp866 |
G |
T |
8: 70,218,491 (GRCm39) |
H376Q |
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 |
|
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'- CTTTAGGAATCCGCGTGTGC -3'
(R):5'- CACTTCATCAACTAGGAAAGGC -3'
Sequencing Primer
(F):5'- CCCAGCCATCTTCTCACAGGAG -3'
(R):5'- TTCATCAACTAGGAAAGGCTGAGAAC -3'
|
Posted On |
2019-05-13 |