Incidental Mutation 'R3837:Polr1b'
ID |
275684 |
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 |
040778-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3837 (G1)
|
Quality Score |
198 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 128961027 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 662
(F662Y)
|
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: F662Y
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028874 Gene: ENSMUSG00000027395 AA Change: F662Y
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: F662Y
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099494 Gene: ENSMUSG00000027395 AA Change: F662Y
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133345
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147727
|
Meta Mutation Damage Score |
0.1220 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (52/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
4930474N05Rik |
G |
A |
14: 35,817,435 (GRCm39) |
G112S |
probably benign |
Het |
Adam24 |
T |
C |
8: 41,133,584 (GRCm39) |
S351P |
probably benign |
Het |
Amigo2 |
T |
C |
15: 97,143,196 (GRCm39) |
I409V |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
Cdc20b |
T |
C |
13: 113,220,542 (GRCm39) |
W432R |
probably damaging |
Het |
Cdh9 |
G |
T |
15: 16,823,524 (GRCm39) |
E169* |
probably null |
Het |
Col28a1 |
C |
T |
6: 8,014,601 (GRCm39) |
V935M |
possibly damaging |
Het |
Col6a3 |
T |
C |
1: 90,707,803 (GRCm39) |
N1948D |
unknown |
Het |
Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,692,314 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
C |
5: 73,228,608 (GRCm39) |
T1708A |
probably benign |
Het |
Gcnt4 |
A |
T |
13: 97,083,522 (GRCm39) |
R273* |
probably null |
Het |
Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
Glra2 |
C |
T |
X: 164,072,612 (GRCm39) |
V85I |
probably benign |
Het |
Gm11562 |
A |
G |
11: 99,511,026 (GRCm39) |
I58T |
possibly damaging |
Het |
Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,303,419 (GRCm39) |
L3020P |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
Lamtor1 |
T |
C |
7: 101,559,315 (GRCm39) |
|
probably null |
Het |
Lrrd1 |
A |
T |
5: 3,900,204 (GRCm39) |
I170L |
possibly damaging |
Het |
Magi2 |
G |
A |
5: 20,420,466 (GRCm39) |
D301N |
probably benign |
Het |
Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
Mmrn1 |
G |
A |
6: 60,921,831 (GRCm39) |
S96N |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msh3 |
C |
A |
13: 92,491,366 (GRCm39) |
G15C |
probably damaging |
Het |
Myl12b |
C |
A |
17: 71,281,480 (GRCm39) |
E120* |
probably null |
Het |
Myo3a |
T |
G |
2: 22,455,121 (GRCm39) |
|
probably benign |
Het |
Nagk |
A |
T |
6: 83,778,139 (GRCm39) |
H245L |
possibly damaging |
Het |
Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
Nlrc5 |
A |
G |
8: 95,237,929 (GRCm39) |
|
probably benign |
Het |
Ogfrl1 |
G |
A |
1: 23,409,041 (GRCm39) |
T395I |
probably benign |
Het |
Rrbp1 |
T |
C |
2: 143,831,478 (GRCm39) |
K230E |
probably damaging |
Het |
Shld2 |
A |
G |
14: 33,971,142 (GRCm39) |
V581A |
probably damaging |
Het |
Skap2 |
C |
T |
6: 51,886,279 (GRCm39) |
|
probably null |
Het |
Skint5 |
A |
T |
4: 113,797,938 (GRCm39) |
M215K |
probably damaging |
Het |
Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
Tdp1 |
A |
G |
12: 99,860,967 (GRCm39) |
|
probably null |
Het |
Tlr3 |
G |
A |
8: 45,849,976 (GRCm39) |
L898F |
probably damaging |
Het |
Tmem210 |
A |
G |
2: 25,178,444 (GRCm39) |
E35G |
possibly damaging |
Het |
Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
Vmn1r33 |
A |
T |
6: 66,588,701 (GRCm39) |
D284E |
possibly damaging |
Het |
Wnk1 |
T |
C |
6: 119,927,004 (GRCm39) |
E1265G |
probably damaging |
Het |
Yme1l1 |
A |
T |
2: 23,081,092 (GRCm39) |
T455S |
possibly damaging |
Het |
Zfp111 |
T |
C |
7: 23,898,891 (GRCm39) |
N241S |
possibly 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 |
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 |
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'- GGGTGATGTAAGCACTGTGC -3'
(R):5'- AACTGGGCAAGCTGGTAAC -3'
Sequencing Primer
(F):5'- ACTGTGCAGCCTCGAGG -3'
(R):5'- TGGTAACAGAACAGACGTCTCATCTG -3'
|
Posted On |
2015-04-06 |