Incidental Mutation 'IGL02156:Polr1b'
ID |
282246 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Polr1b
|
Ensembl Gene |
ENSMUSG00000027395 |
Gene Name |
polymerase (RNA) I polypeptide B |
Synonyms |
Rpo1-2, RPA116, 128kDa, RPA2, D630020H17Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02156
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 128965799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 814
(F814I)
|
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 |
probably benign
Transcript: ENSMUST00000103205
AA Change: F814I
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099494 Gene: ENSMUSG00000027395 AA Change: F814I
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: ENSMUST00000144004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147727
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930408O17Rik |
G |
A |
12: 104,837,566 (GRCm39) |
|
noncoding transcript |
Het |
Adam33 |
G |
A |
2: 130,895,078 (GRCm39) |
|
probably benign |
Het |
Akr7a5 |
C |
A |
4: 139,041,580 (GRCm39) |
A163D |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,037,937 (GRCm39) |
|
probably benign |
Het |
Asf1a |
C |
T |
10: 53,482,239 (GRCm39) |
A17V |
probably benign |
Het |
Atp1a4 |
A |
T |
1: 172,085,529 (GRCm39) |
S25T |
probably benign |
Het |
Cbln4 |
T |
C |
2: 171,884,128 (GRCm39) |
I31V |
probably benign |
Het |
Ccdc93 |
T |
G |
1: 121,376,005 (GRCm39) |
L172R |
possibly damaging |
Het |
Ceacam9 |
T |
C |
7: 16,457,544 (GRCm39) |
|
probably benign |
Het |
Crhr1 |
C |
A |
11: 104,054,709 (GRCm39) |
N107K |
probably benign |
Het |
Cyp11b1 |
T |
A |
15: 74,707,646 (GRCm39) |
M488L |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,458,882 (GRCm39) |
V3752A |
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,370,951 (GRCm39) |
V4744M |
probably damaging |
Het |
Dstyk |
C |
A |
1: 132,377,664 (GRCm39) |
N423K |
probably benign |
Het |
Exph5 |
T |
C |
9: 53,286,941 (GRCm39) |
S1341P |
probably damaging |
Het |
Fam161b |
T |
C |
12: 84,401,527 (GRCm39) |
H409R |
probably benign |
Het |
Fbxo21 |
A |
G |
5: 118,132,733 (GRCm39) |
|
probably benign |
Het |
Flt1 |
A |
G |
5: 147,618,551 (GRCm39) |
I230T |
probably damaging |
Het |
Gm9931 |
T |
C |
1: 147,157,366 (GRCm39) |
|
noncoding transcript |
Het |
Grk6 |
T |
C |
13: 55,597,174 (GRCm39) |
F36L |
possibly damaging |
Het |
Grm1 |
G |
T |
10: 10,595,720 (GRCm39) |
A636D |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,800,916 (GRCm39) |
|
probably benign |
Het |
Hltf |
G |
A |
3: 20,146,971 (GRCm39) |
V577I |
possibly damaging |
Het |
Hrob |
C |
T |
11: 102,145,865 (GRCm39) |
S47F |
probably damaging |
Het |
Lrrc8c |
A |
G |
5: 105,755,359 (GRCm39) |
D378G |
probably damaging |
Het |
Mcoln1 |
C |
A |
8: 3,562,657 (GRCm39) |
S6* |
probably null |
Het |
Meis1 |
A |
T |
11: 18,961,292 (GRCm39) |
S194T |
probably benign |
Het |
Myo1h |
A |
C |
5: 114,491,972 (GRCm39) |
|
probably benign |
Het |
Nop9 |
T |
A |
14: 55,990,740 (GRCm39) |
C557* |
probably null |
Het |
Nrap |
T |
C |
19: 56,309,432 (GRCm39) |
D1619G |
probably damaging |
Het |
Or10d1c |
T |
A |
9: 38,893,842 (GRCm39) |
Y166F |
possibly damaging |
Het |
Or4f61 |
A |
T |
2: 111,922,361 (GRCm39) |
H228Q |
probably benign |
Het |
Or7g34 |
A |
G |
9: 19,478,494 (GRCm39) |
M59T |
probably damaging |
Het |
Pard3b |
T |
A |
1: 61,807,109 (GRCm39) |
D41E |
possibly damaging |
Het |
Parp14 |
G |
T |
16: 35,678,967 (GRCm39) |
Q334K |
probably benign |
Het |
Phf3 |
A |
T |
1: 30,847,859 (GRCm39) |
I1228K |
probably damaging |
Het |
Prr5 |
A |
G |
15: 84,654,236 (GRCm39) |
I306V |
possibly damaging |
Het |
Rsph1 |
T |
G |
17: 31,477,090 (GRCm39) |
S282R |
probably benign |
Het |
Son |
T |
C |
16: 91,452,992 (GRCm39) |
S580P |
possibly damaging |
Het |
Sptbn5 |
G |
T |
2: 119,878,098 (GRCm39) |
|
probably benign |
Het |
Ssr2 |
T |
A |
3: 88,491,095 (GRCm39) |
|
probably null |
Het |
Tfpt |
A |
G |
7: 3,632,039 (GRCm39) |
S24P |
probably damaging |
Het |
Tg |
A |
G |
15: 66,577,197 (GRCm39) |
T1507A |
probably benign |
Het |
Trpm7 |
A |
G |
2: 126,641,163 (GRCm39) |
|
probably benign |
Het |
Wwox |
G |
A |
8: 115,174,899 (GRCm39) |
|
probably null |
Het |
Ythdf2 |
C |
T |
4: 131,931,819 (GRCm39) |
R447H |
possibly damaging |
Het |
Zfp385c |
A |
G |
11: 100,519,845 (GRCm39) |
F368S |
probably damaging |
Het |
Zfp488 |
A |
G |
14: 33,692,357 (GRCm39) |
S269P |
possibly damaging |
Het |
Zhx1 |
A |
C |
15: 57,917,445 (GRCm39) |
V267G |
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 |
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 |
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 |
|
|
Posted On |
2015-04-16 |