Incidental Mutation 'R5027:Polr1b'
ID |
391411 |
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 |
042618-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5027 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 128965803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Arginine
at position 815
(I815R)
|
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: I815R
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099494 Gene: ENSMUSG00000027395 AA Change: I815R
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
|
Meta Mutation Damage Score |
0.4552 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
Validation Efficiency |
97% (97/100) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
G |
7: 119,911,505 (GRCm39) |
I1363R |
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,221,917 (GRCm39) |
|
probably null |
Het |
Adgrf1 |
T |
A |
17: 43,614,638 (GRCm39) |
F241I |
probably damaging |
Het |
Afg3l1 |
T |
C |
8: 124,216,553 (GRCm39) |
M264T |
probably benign |
Het |
Ankle1 |
T |
C |
8: 71,861,623 (GRCm39) |
S434P |
probably damaging |
Het |
Apoe |
C |
T |
7: 19,430,940 (GRCm39) |
A101T |
probably damaging |
Het |
Apol11a |
G |
T |
15: 77,401,153 (GRCm39) |
K213N |
probably damaging |
Het |
Asap2 |
A |
G |
12: 21,254,082 (GRCm39) |
M198V |
probably damaging |
Het |
Atg4b |
C |
T |
1: 93,714,297 (GRCm39) |
A360V |
probably benign |
Het |
B3gnt5 |
T |
A |
16: 19,588,444 (GRCm39) |
V221D |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,928,988 (GRCm39) |
|
probably benign |
Het |
Cep350 |
C |
A |
1: 155,809,100 (GRCm39) |
W492L |
probably benign |
Het |
Cln6 |
A |
G |
9: 62,754,375 (GRCm39) |
Y139C |
probably damaging |
Het |
Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
Cul9 |
C |
T |
17: 46,811,708 (GRCm39) |
E2507K |
probably damaging |
Het |
Dgkz |
A |
T |
2: 91,775,888 (GRCm39) |
V125D |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,993,365 (GRCm39) |
M1127V |
probably benign |
Het |
Dnajb1 |
C |
A |
8: 84,336,732 (GRCm39) |
D67E |
probably benign |
Het |
Dync1li1 |
A |
G |
9: 114,542,612 (GRCm39) |
D258G |
probably damaging |
Het |
Egflam |
G |
T |
15: 7,283,125 (GRCm39) |
P311T |
probably benign |
Het |
Fbxw11 |
T |
A |
11: 32,602,811 (GRCm39) |
|
probably benign |
Het |
Fn3krp |
T |
G |
11: 121,320,274 (GRCm39) |
D206E |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,819,477 (GRCm39) |
H5070R |
possibly damaging |
Het |
Gm6605 |
T |
C |
7: 38,149,683 (GRCm39) |
|
noncoding transcript |
Het |
Gna14 |
C |
A |
19: 16,580,636 (GRCm39) |
T158K |
probably benign |
Het |
Gstt2 |
A |
T |
10: 75,667,726 (GRCm39) |
I243N |
probably damaging |
Het |
Haus6 |
C |
T |
4: 86,523,933 (GRCm39) |
D50N |
possibly damaging |
Het |
Hcrtr2 |
A |
G |
9: 76,230,578 (GRCm39) |
I70T |
probably benign |
Het |
Herc1 |
G |
A |
9: 66,380,811 (GRCm39) |
V3563I |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,411,900 (GRCm39) |
I4707F |
probably damaging |
Het |
Hic2 |
C |
T |
16: 17,076,611 (GRCm39) |
A480V |
possibly damaging |
Het |
Hsd17b3 |
A |
G |
13: 64,210,720 (GRCm39) |
Y212H |
probably damaging |
Het |
Hspa5 |
A |
G |
2: 34,665,827 (GRCm39) |
K557R |
probably damaging |
Het |
Iqch |
T |
C |
9: 63,432,294 (GRCm39) |
E367G |
possibly damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Lars2 |
A |
G |
9: 123,270,560 (GRCm39) |
M551V |
probably benign |
Het |
Lbp |
T |
C |
2: 158,150,646 (GRCm39) |
I57T |
possibly damaging |
Het |
Liat1 |
A |
G |
11: 75,891,047 (GRCm39) |
K54E |
probably damaging |
Het |
Litaf |
T |
C |
16: 10,778,868 (GRCm39) |
Q142R |
possibly damaging |
Het |
Lpar5 |
G |
C |
6: 125,059,110 (GRCm39) |
R277P |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,216,349 (GRCm39) |
I2710F |
probably benign |
Het |
Myo7b |
T |
A |
18: 32,108,265 (GRCm39) |
I1199F |
probably benign |
Het |
Naca |
A |
C |
10: 127,883,990 (GRCm39) |
E2140D |
possibly damaging |
Het |
Nup214 |
G |
T |
2: 31,881,329 (GRCm39) |
G396C |
probably damaging |
Het |
Or2v1 |
A |
T |
11: 49,025,451 (GRCm39) |
Q144L |
probably benign |
Het |
Or5aq7 |
T |
A |
2: 86,938,150 (GRCm39) |
I194F |
probably benign |
Het |
Or5j3 |
G |
A |
2: 86,128,540 (GRCm39) |
V127I |
possibly damaging |
Het |
Or7g33 |
A |
G |
9: 19,448,573 (GRCm39) |
Y218H |
probably damaging |
Het |
Or8b57 |
A |
T |
9: 40,003,690 (GRCm39) |
S187T |
probably damaging |
Het |
P4htm |
A |
G |
9: 108,456,492 (GRCm39) |
V436A |
probably benign |
Het |
Pfkm |
A |
G |
15: 98,017,307 (GRCm39) |
I117V |
possibly damaging |
Het |
Phlpp1 |
T |
G |
1: 106,209,201 (GRCm39) |
V518G |
probably damaging |
Het |
Piwil4 |
G |
A |
9: 14,621,240 (GRCm39) |
L598F |
probably damaging |
Het |
Ppef2 |
T |
C |
5: 92,382,150 (GRCm39) |
N515S |
probably damaging |
Het |
Prp2rt |
A |
G |
13: 97,235,648 (GRCm39) |
I33T |
probably benign |
Het |
Prpsap2 |
G |
T |
11: 61,631,830 (GRCm39) |
|
probably null |
Het |
Rab27a |
A |
G |
9: 73,002,695 (GRCm39) |
D208G |
probably benign |
Het |
Ralgds |
A |
G |
2: 28,442,102 (GRCm39) |
|
probably null |
Het |
Raph1 |
C |
A |
1: 60,535,436 (GRCm39) |
C540F |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,175,231 (GRCm39) |
L281P |
probably damaging |
Het |
Rigi |
T |
A |
4: 40,208,845 (GRCm39) |
M756L |
probably benign |
Het |
Rmdn1 |
G |
T |
4: 19,588,533 (GRCm39) |
G110* |
probably null |
Het |
Rph3a |
T |
A |
5: 121,092,512 (GRCm39) |
E363V |
possibly damaging |
Het |
Serpina16 |
G |
T |
12: 103,641,262 (GRCm39) |
Y154* |
probably null |
Het |
Sh2d3c |
G |
A |
2: 32,634,814 (GRCm39) |
E198K |
possibly damaging |
Het |
Shank2 |
C |
A |
7: 143,812,842 (GRCm39) |
Y663* |
probably null |
Het |
Sharpin |
T |
C |
15: 76,234,225 (GRCm39) |
|
probably benign |
Het |
Slitrk1 |
G |
A |
14: 109,149,740 (GRCm39) |
P324S |
probably benign |
Het |
Sorbs2 |
T |
A |
8: 46,199,571 (GRCm39) |
|
probably null |
Het |
Spag16 |
C |
T |
1: 69,962,963 (GRCm39) |
|
probably benign |
Het |
Sycp2l |
A |
T |
13: 41,283,247 (GRCm39) |
|
probably null |
Het |
Synj1 |
A |
T |
16: 90,737,407 (GRCm39) |
|
probably null |
Het |
Sytl1 |
T |
C |
4: 132,983,530 (GRCm39) |
|
probably benign |
Het |
Tkfc |
A |
T |
19: 10,570,023 (GRCm39) |
|
probably null |
Het |
Tnn |
T |
C |
1: 159,972,781 (GRCm39) |
T274A |
probably damaging |
Het |
Trav14-2 |
T |
A |
14: 53,878,505 (GRCm39) |
W35R |
probably damaging |
Het |
Trim72 |
T |
C |
7: 127,607,137 (GRCm39) |
M222T |
probably damaging |
Het |
Trim9 |
A |
G |
12: 70,393,482 (GRCm39) |
V154A |
probably damaging |
Het |
Ttc7b |
T |
C |
12: 100,268,001 (GRCm39) |
Y266C |
probably damaging |
Het |
Uchl3 |
T |
A |
14: 101,903,982 (GRCm39) |
I43K |
possibly damaging |
Het |
Vdac1 |
T |
A |
11: 52,279,305 (GRCm39) |
N269K |
possibly damaging |
Het |
Wdr72 |
T |
A |
9: 74,053,258 (GRCm39) |
W187R |
probably damaging |
Het |
Zfp30 |
T |
A |
7: 29,492,491 (GRCm39) |
C248* |
probably null |
Het |
Zfp940 |
A |
T |
7: 29,550,381 (GRCm39) |
|
probably benign |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
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 |
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'- AGATTGTCAACAAGGCTTCCTG -3'
(R):5'- TCCCGTCACTTAAGAGGCAG -3'
Sequencing Primer
(F):5'- GTCAACAAGGCTTCCTGGGAAC -3'
(R):5'- GGCAGGGGCATCACTCATTATATC -3'
|
Posted On |
2016-06-06 |