Incidental Mutation 'R2385:Polr3gl'
| ID |
247671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr3gl
|
| Ensembl Gene |
ENSMUSG00000028104 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide G like |
| Synonyms |
2010003I19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R2385 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96485188-96501497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96485862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 135
(F135L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091924]
[ENSMUST00000145001]
[ENSMUST00000148290]
|
| AlphaFold |
Q8R0C0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091924
AA Change: F205L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089544
Gene: ENSMUSG00000028104
AA Change: F205L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_3_Rpc31
|
1 |
217 |
2.8e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141579
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145001
AA Change: F135L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118943
Gene: ENSMUSG00000028104
AA Change: F135L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_3_Rpc31
|
1 |
148 |
4.4e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148290
|
| SMART Domains |
Protein: ENSMUSP00000122904
Gene: ENSMUSG00000087610
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
T |
C |
15: 41,732,749 (GRCm39) |
T106A |
probably damaging |
Het |
| Adgra3 |
A |
T |
5: 50,136,908 (GRCm39) |
I595N |
possibly damaging |
Het |
| Aox3 |
A |
G |
1: 58,177,448 (GRCm39) |
E221G |
probably damaging |
Het |
| Arpc1a |
T |
A |
5: 145,041,333 (GRCm39) |
|
probably null |
Het |
| Cd180 |
A |
G |
13: 102,841,691 (GRCm39) |
T246A |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,816,261 (GRCm39) |
E672G |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,442,696 (GRCm39) |
I380F |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,868,324 (GRCm39) |
D653E |
probably damaging |
Het |
| Fbxw22 |
A |
G |
9: 109,211,210 (GRCm39) |
S364P |
probably damaging |
Het |
| Ift122 |
T |
C |
6: 115,889,483 (GRCm39) |
Y823H |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,936,819 (GRCm39) |
S1365P |
probably damaging |
Het |
| Nol11 |
C |
T |
11: 107,080,032 (GRCm39) |
G18R |
probably benign |
Het |
| Or8k3 |
A |
T |
2: 86,058,817 (GRCm39) |
L166* |
probably null |
Het |
| Pde8a |
T |
G |
7: 80,932,740 (GRCm39) |
M134R |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Sdr16c6 |
T |
A |
4: 4,062,671 (GRCm39) |
I216F |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,931,121 (GRCm39) |
D126G |
probably benign |
Het |
| Snx13 |
A |
T |
12: 35,169,792 (GRCm39) |
Y579F |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,837,568 (GRCm39) |
T1699A |
probably damaging |
Het |
|
| Other mutations in Polr3gl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00833:Polr3gl
|
APN |
3 |
96,485,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
babystep
|
UTSW |
3 |
96,487,824 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT1430001:Polr3gl
|
UTSW |
3 |
96,488,228 (GRCm39) |
unclassified |
probably benign |
|
|
R0675:Polr3gl
|
UTSW |
3 |
96,489,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Polr3gl
|
UTSW |
3 |
96,488,190 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4938:Polr3gl
|
UTSW |
3 |
96,487,208 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5120:Polr3gl
|
UTSW |
3 |
96,485,795 (GRCm39) |
intron |
probably benign |
|
|
R7000:Polr3gl
|
UTSW |
3 |
96,487,783 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7499:Polr3gl
|
UTSW |
3 |
96,487,137 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7942:Polr3gl
|
UTSW |
3 |
96,489,552 (GRCm39) |
splice site |
probably null |
|
|
R8128:Polr3gl
|
UTSW |
3 |
96,487,824 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8289:Polr3gl
|
UTSW |
3 |
96,489,228 (GRCm39) |
unclassified |
probably benign |
|
|
R8725:Polr3gl
|
UTSW |
3 |
96,487,154 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8727:Polr3gl
|
UTSW |
3 |
96,487,154 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8921:Polr3gl
|
UTSW |
3 |
96,485,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9554:Polr3gl
|
UTSW |
3 |
96,489,037 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGTAAATGCTAGTAAGTCTGCT -3'
(R):5'- ACAGGCAAACAAATACTTTAACTTGT -3'
Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- TAGGACTCGAGCTCCACTCTCAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation