Incidental Mutation 'IGL01536:Polr1b'
| ID |
89952 |
| 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 # |
IGL01536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128967475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 956
(N956S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000035481]
[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: ENSMUST00000035481
|
| SMART Domains |
Protein: ENSMUSP00000044253
Gene: ENSMUSG00000037938
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LQL|A
|
1 |
110 |
2e-69 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103205
AA Change: N956S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: N956S
| 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: ENSMUST00000137881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149118
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp5f1a |
T |
C |
18: 77,868,012 (GRCm39) |
|
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,505 (GRCm39) |
I81V |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,422,237 (GRCm39) |
D560G |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,316,859 (GRCm39) |
Y826H |
probably damaging |
Het |
| Dtx2 |
A |
G |
5: 136,038,940 (GRCm39) |
|
probably benign |
Het |
| Enpp4 |
T |
C |
17: 44,410,494 (GRCm39) |
K361E |
possibly damaging |
Het |
| Erap1 |
A |
T |
13: 74,810,542 (GRCm39) |
K294* |
probably null |
Het |
| Erbb4 |
T |
A |
1: 68,329,441 (GRCm39) |
Y636F |
probably benign |
Het |
| Fads1 |
C |
A |
19: 10,171,394 (GRCm39) |
Q342K |
probably benign |
Het |
| Fntb |
A |
T |
12: 76,966,904 (GRCm39) |
T447S |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,857,868 (GRCm39) |
|
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,531,522 (GRCm39) |
I463T |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,905,765 (GRCm39) |
T726K |
probably damaging |
Het |
| Lcmt1 |
T |
C |
7: 123,021,966 (GRCm39) |
S275P |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,873,868 (GRCm39) |
S425P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,000,895 (GRCm39) |
I2224V |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,606,410 (GRCm39) |
T173S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,584,340 (GRCm39) |
Y2590H |
possibly damaging |
Het |
| Myo18a |
C |
T |
11: 77,711,677 (GRCm39) |
P676L |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,944 (GRCm39) |
S267P |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,046 (GRCm39) |
M426T |
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,737,123 (GRCm39) |
V891A |
probably damaging |
Het |
| Ppil3 |
T |
C |
1: 58,483,750 (GRCm39) |
M1V |
probably null |
Het |
| Rad1 |
T |
A |
15: 10,493,286 (GRCm39) |
S238T |
possibly damaging |
Het |
| Shc3 |
A |
C |
13: 51,670,595 (GRCm39) |
S51A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,409,992 (GRCm39) |
|
probably null |
Het |
| Smg5 |
A |
G |
3: 88,256,552 (GRCm39) |
K273E |
possibly damaging |
Het |
| Sntg1 |
C |
T |
1: 8,653,424 (GRCm39) |
|
probably null |
Het |
| Sstr4 |
T |
C |
2: 148,237,800 (GRCm39) |
L137P |
probably damaging |
Het |
| Taar8b |
C |
T |
10: 23,967,493 (GRCm39) |
V234I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,987,621 (GRCm39) |
Y860C |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,527,323 (GRCm39) |
S399R |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,958,807 (GRCm39) |
|
probably benign |
Het |
| Trim10 |
T |
A |
17: 37,188,180 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,562,695 (GRCm39) |
|
probably null |
Het |
| Usp43 |
T |
C |
11: 67,746,764 (GRCm39) |
D981G |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,543 (GRCm39) |
C554S |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,824,136 (GRCm39) |
Y464N |
probably damaging |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,847 (GRCm39) |
K575E |
probably damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,771,610 (GRCm39) |
C697Y |
probably damaging |
Het |
| Zcchc8 |
A |
C |
5: 123,858,782 (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 |
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation