Incidental Mutation 'R5065:Polr3b'
| ID |
388300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr3b
|
| Ensembl Gene |
ENSMUSG00000034453 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide B |
| Synonyms |
2700078H01Rik, RPC2, A330032P03Rik |
| MMRRC Submission |
042655-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5065 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
84458156-84563042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 84468402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 129
(N129K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077175]
|
| AlphaFold |
P59470 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077175
AA Change: N129K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: N129K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_Rpb2_1
|
38 |
413 |
2e-55 |
PFAM |
|
Pfam:RNA_pol_Rpb2_2
|
185 |
363 |
8.4e-29 |
PFAM |
|
Pfam:RNA_pol_Rpb2_3
|
438 |
502 |
2.6e-22 |
PFAM |
|
Pfam:RNA_pol_Rpb2_4
|
539 |
600 |
1e-29 |
PFAM |
|
Pfam:RNA_pol_Rpb2_5
|
621 |
661 |
6.5e-14 |
PFAM |
|
Pfam:RNA_pol_Rpb2_6
|
668 |
1041 |
5.8e-129 |
PFAM |
|
Pfam:RNA_pol_Rpb2_7
|
1043 |
1129 |
7.6e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213263
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
All alleles(48) : Targeted, other(2) Gene trapped(46) |
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
A |
1: 138,779,893 (GRCm39) |
N120Y |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,382,432 (GRCm39) |
T272M |
probably benign |
Het |
| Aldh9a1 |
A |
G |
1: 167,180,128 (GRCm39) |
E74G |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Bcl2l10 |
A |
T |
9: 75,255,261 (GRCm39) |
E26V |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,457,453 (GRCm39) |
H1166Q |
probably benign |
Het |
| Dennd2a |
C |
A |
6: 39,472,110 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
G |
9: 106,832,883 (GRCm39) |
F129L |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,359 (GRCm39) |
I377N |
probably damaging |
Het |
| Gm8674 |
T |
C |
13: 50,056,613 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl2 |
A |
T |
1: 183,207,580 (GRCm39) |
H433L |
probably benign |
Het |
| Hsfy2 |
G |
A |
1: 56,675,626 (GRCm39) |
Q304* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,251,708 (GRCm39) |
I140V |
unknown |
Het |
| Kmt2a |
T |
C |
9: 44,753,997 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,958,213 (GRCm39) |
E671G |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,985,917 (GRCm39) |
D607G |
probably benign |
Het |
| Mroh4 |
C |
T |
15: 74,500,119 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
G |
9: 39,934,546 (GRCm39) |
I286V |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,560,047 (GRCm39) |
D124G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,445,689 (GRCm39) |
N3790K |
possibly damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,227,256 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,324 (GRCm39) |
I338V |
probably benign |
Het |
| Slc39a7 |
A |
G |
17: 34,250,033 (GRCm39) |
|
probably benign |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,433,663 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,646,295 (GRCm39) |
L780Q |
probably damaging |
Het |
| Tacr1 |
G |
A |
6: 82,531,859 (GRCm39) |
V252M |
possibly damaging |
Het |
| Tdrp |
T |
C |
8: 14,003,791 (GRCm39) |
E182G |
probably damaging |
Het |
| Vmn1r58 |
A |
G |
7: 5,413,834 (GRCm39) |
I132T |
probably benign |
Het |
| Wap |
A |
T |
11: 6,586,840 (GRCm39) |
N86K |
probably damaging |
Het |
|
| Other mutations in Polr3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00787:Polr3b
|
APN |
10 |
84,512,854 (GRCm39) |
missense |
probably benign |
|
|
IGL00848:Polr3b
|
APN |
10 |
84,516,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00901:Polr3b
|
APN |
10 |
84,467,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01313:Polr3b
|
APN |
10 |
84,561,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01364:Polr3b
|
APN |
10 |
84,531,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01731:Polr3b
|
APN |
10 |
84,467,704 (GRCm39) |
nonsense |
probably null |
|
|
IGL03326:Polr3b
|
APN |
10 |
84,503,259 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03369:Polr3b
|
APN |
10 |
84,512,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
etruscan
|
UTSW |
10 |
84,468,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
pennyweight
|
UTSW |
10 |
84,549,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pinhead
|
UTSW |
10 |
84,491,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G5538:Polr3b
|
UTSW |
10 |
84,467,658 (GRCm39) |
missense |
probably benign |
0.21 |
|
PIT4382001:Polr3b
|
UTSW |
10 |
84,520,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Polr3b
|
UTSW |
10 |
84,458,379 (GRCm39) |
missense |
probably benign |
|
|
R0270:Polr3b
|
UTSW |
10 |
84,554,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0541:Polr3b
|
UTSW |
10 |
84,473,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0890:Polr3b
|
UTSW |
10 |
84,550,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1302:Polr3b
|
UTSW |
10 |
84,468,350 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1511:Polr3b
|
UTSW |
10 |
84,516,249 (GRCm39) |
missense |
probably benign |
|
|
R1561:Polr3b
|
UTSW |
10 |
84,470,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Polr3b
|
UTSW |
10 |
84,488,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1624:Polr3b
|
UTSW |
10 |
84,515,669 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1809:Polr3b
|
UTSW |
10 |
84,528,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Polr3b
|
UTSW |
10 |
84,528,786 (GRCm39) |
nonsense |
probably null |
|
|
R2973:Polr3b
|
UTSW |
10 |
84,464,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3401:Polr3b
|
UTSW |
10 |
84,535,355 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3876:Polr3b
|
UTSW |
10 |
84,556,382 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3961:Polr3b
|
UTSW |
10 |
84,520,166 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4664:Polr3b
|
UTSW |
10 |
84,550,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Polr3b
|
UTSW |
10 |
84,491,867 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4972:Polr3b
|
UTSW |
10 |
84,473,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Polr3b
|
UTSW |
10 |
84,503,280 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5302:Polr3b
|
UTSW |
10 |
84,535,264 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5795:Polr3b
|
UTSW |
10 |
84,464,116 (GRCm39) |
missense |
probably benign |
|
|
R5795:Polr3b
|
UTSW |
10 |
84,512,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5838:Polr3b
|
UTSW |
10 |
84,510,454 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6419:Polr3b
|
UTSW |
10 |
84,473,975 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6568:Polr3b
|
UTSW |
10 |
84,470,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Polr3b
|
UTSW |
10 |
84,464,489 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6913:Polr3b
|
UTSW |
10 |
84,549,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Polr3b
|
UTSW |
10 |
84,520,043 (GRCm39) |
missense |
probably benign |
|
|
R7456:Polr3b
|
UTSW |
10 |
84,458,355 (GRCm39) |
missense |
probably benign |
|
|
R7657:Polr3b
|
UTSW |
10 |
84,491,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Polr3b
|
UTSW |
10 |
84,549,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8082:Polr3b
|
UTSW |
10 |
84,491,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8127:Polr3b
|
UTSW |
10 |
84,515,653 (GRCm39) |
missense |
probably benign |
|
|
R8676:Polr3b
|
UTSW |
10 |
84,516,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8744:Polr3b
|
UTSW |
10 |
84,464,488 (GRCm39) |
splice site |
probably benign |
|
|
R8797:Polr3b
|
UTSW |
10 |
84,532,879 (GRCm39) |
nonsense |
probably null |
|
|
R8866:Polr3b
|
UTSW |
10 |
84,531,555 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9006:Polr3b
|
UTSW |
10 |
84,467,697 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9397:Polr3b
|
UTSW |
10 |
84,467,653 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9509:Polr3b
|
UTSW |
10 |
84,467,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Polr3b
|
UTSW |
10 |
84,549,559 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Polr3b
|
UTSW |
10 |
84,550,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGTTCAGGCTGCTGTGC -3'
(R):5'- AGCATTTCCTCAGCTTTAGAGACTG -3'
Sequencing Primer
(F):5'- CAGGCTGCTGTGCACTGTATTC -3'
(R):5'- GTAAACCACAGCTCTGTCTGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation