Incidental Mutation 'IGL00833:Polr3gl'
| ID |
13095 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96485188-96501497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 96485876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 130
(D130A)
|
| 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: D200A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089544
Gene: ENSMUSG00000028104
AA Change: D200A
| 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: D130A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118943
Gene: ENSMUSG00000028104
AA Change: D130A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
A |
G |
11: 61,108,006 (GRCm39) |
E350G |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,060,101 (GRCm39) |
V2861A |
probably benign |
Het |
| Bpifb9a |
C |
T |
2: 154,106,195 (GRCm39) |
Q358* |
probably null |
Het |
| Cbfa2t2 |
T |
A |
2: 154,370,795 (GRCm39) |
Y423N |
probably damaging |
Het |
| Cd209e |
A |
C |
8: 3,902,800 (GRCm39) |
M102R |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,122,004 (GRCm39) |
V173D |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 118,143,315 (GRCm39) |
F443L |
probably damaging |
Het |
| Exoc4 |
G |
A |
6: 33,948,859 (GRCm39) |
E901K |
probably damaging |
Het |
| Gp5 |
T |
C |
16: 30,128,284 (GRCm39) |
D130G |
possibly damaging |
Het |
| H2-T3 |
T |
G |
17: 36,497,933 (GRCm39) |
S327R |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,246,060 (GRCm39) |
I417T |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,459,933 (GRCm39) |
V377A |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,964,320 (GRCm39) |
I132V |
probably benign |
Het |
| Nckap5 |
C |
A |
1: 125,954,889 (GRCm39) |
K622N |
probably damaging |
Het |
| Nlrp4e |
G |
A |
7: 23,039,896 (GRCm39) |
V740I |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,006,230 (GRCm39) |
K784R |
possibly damaging |
Het |
| Sycp1 |
A |
G |
3: 102,783,617 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
T |
15: 66,560,650 (GRCm39) |
T1004I |
probably benign |
Het |
| Tmco5b |
T |
A |
2: 113,127,194 (GRCm39) |
I255N |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
| Zeb1 |
A |
G |
18: 5,767,774 (GRCm39) |
T762A |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,649 (GRCm39) |
E296G |
probably damaging |
Het |
|
| Other mutations in Polr3gl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2385:Polr3gl
|
UTSW |
3 |
96,485,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation