Incidental Mutation 'IGL01787:Polr3k'
| ID |
155105 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr3k
|
| Ensembl Gene |
ENSMUSG00000038628 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide K |
| Synonyms |
C11, RPC11, 12.3kDa, 1500004O14Rik, RPC10 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL01787
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181506153-181512623 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to C
at 181506251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039551]
|
| AlphaFold |
Q9CQZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039551
|
| SMART Domains |
Protein: ENSMUSP00000044582
Gene: ENSMUSG00000038628
| Domain | Start | End | E-Value | Type |
|---|
|
RPOL9
|
3 |
53 |
8.44e-19 |
SMART |
|
ZnF_C2C2
|
67 |
108 |
8.14e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153214
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,580,887 (GRCm39) |
S1772P |
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,591 (GRCm39) |
Y34N |
probably damaging |
Het |
| Epsti1 |
T |
C |
14: 78,210,052 (GRCm39) |
|
probably null |
Het |
| Mtrr |
A |
T |
13: 68,719,266 (GRCm39) |
L325Q |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,186,367 (GRCm39) |
K902E |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,867,189 (GRCm39) |
L108P |
probably damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,470 (GRCm39) |
C141S |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,655 (GRCm39) |
Y127F |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,115 (GRCm39) |
D712G |
probably benign |
Het |
| Shkbp1 |
A |
C |
7: 27,041,875 (GRCm39) |
F660V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,698,413 (GRCm39) |
D1121G |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,699,983 (GRCm39) |
D998E |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,861,765 (GRCm39) |
D14G |
probably damaging |
Het |
| Tap1 |
T |
C |
17: 34,415,578 (GRCm39) |
S641P |
probably benign |
Het |
| Tgm3 |
C |
T |
2: 129,889,660 (GRCm39) |
S618F |
possibly damaging |
Het |
| Tgm6 |
T |
C |
2: 129,993,354 (GRCm39) |
|
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,717,781 (GRCm39) |
E194D |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,571,732 (GRCm39) |
V45E |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,319,146 (GRCm39) |
M292K |
probably damaging |
Het |
| Usp5 |
A |
T |
6: 124,801,189 (GRCm39) |
D179E |
possibly damaging |
Het |
| Ythdf1 |
A |
G |
2: 180,553,486 (GRCm39) |
L216P |
probably damaging |
Het |
| Zfp948 |
C |
T |
17: 21,807,333 (GRCm39) |
A175V |
probably benign |
Het |
|
| Other mutations in Polr3k |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03383:Polr3k
|
APN |
2 |
181,507,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4214:Polr3k
|
UTSW |
2 |
181,510,035 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4779:Polr3k
|
UTSW |
2 |
181,506,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Polr3k
|
UTSW |
2 |
181,506,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-02-04 |
Incidental Mutation