Incidental Mutation 'R0785:Polr1g'
| ID |
76818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr1g
|
| Ensembl Gene |
ENSMUSG00000047649 |
| Gene Name |
RNA polymerase I subunit G |
| Synonyms |
2610103M17Rik, PAF49, Ase1, Cd3eap |
| MMRRC Submission |
038965-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0785 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19089939-19093408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 19091210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 299
(S299C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003645]
[ENSMUST00000047036]
[ENSMUST00000047621]
[ENSMUST00000127785]
[ENSMUST00000140836]
[ENSMUST00000160369]
[ENSMUST00000176818]
|
| AlphaFold |
Q76KJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003645
|
| SMART Domains |
Protein: ENSMUSP00000003645
Gene: ENSMUSG00000003549
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
|
Pfam:Rad10
|
100 |
213 |
2.9e-55 |
PFAM |
|
HhH1
|
269 |
288 |
4.04e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047036
AA Change: S299C
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044653
Gene: ENSMUSG00000047649
AA Change: S299C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_polI_A34
|
37 |
397 |
7.5e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047621
|
| SMART Domains |
Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
632 |
N/A |
INTRINSIC |
|
ANK
|
655 |
684 |
2.25e-3 |
SMART |
|
ANK
|
688 |
717 |
1.31e-4 |
SMART |
|
SH3
|
757 |
815 |
4.66e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127785
|
| SMART Domains |
Protein: ENSMUSP00000116351
Gene: ENSMUSG00000040734
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140836
|
| SMART Domains |
Protein: ENSMUSP00000114443
Gene: ENSMUSG00000040734
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160192
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162197
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160369
|
| SMART Domains |
Protein: ENSMUSP00000125655
Gene: ENSMUSG00000003549
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
|
Pfam:Rad10
|
99 |
166 |
1.6e-34 |
PFAM |
|
low complexity region
|
232 |
245 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176818
|
| SMART Domains |
Protein: ENSMUSP00000135767
Gene: ENSMUSG00000003549
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad10
|
23 |
90 |
8.4e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177486
|
| Meta Mutation Damage Score |
0.0654 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.1%
- 20x: 87.1%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
| Adam10 |
A |
G |
9: 70,675,170 (GRCm39) |
E593G |
possibly damaging |
Het |
| Adh6a |
T |
C |
3: 138,034,829 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
T |
A |
12: 52,933,405 (GRCm39) |
I299N |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,013,483 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,977,359 (GRCm39) |
N1318K |
probably benign |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,598,434 (GRCm39) |
D327G |
probably benign |
Het |
| Eif2b2 |
C |
A |
12: 85,268,335 (GRCm39) |
T170K |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,242,239 (GRCm39) |
H138Q |
probably damaging |
Het |
| Ern2 |
A |
T |
7: 121,770,884 (GRCm39) |
|
probably null |
Het |
| Fkbp11 |
T |
C |
15: 98,624,430 (GRCm39) |
K108R |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,719,152 (GRCm39) |
K353E |
possibly damaging |
Het |
| Hipk1 |
G |
T |
3: 103,661,641 (GRCm39) |
|
probably null |
Het |
| Itga4 |
A |
G |
2: 79,119,649 (GRCm39) |
D485G |
possibly damaging |
Het |
| Krt1c |
C |
A |
15: 101,726,356 (GRCm39) |
G61C |
unknown |
Het |
| Med12l |
T |
A |
3: 59,168,253 (GRCm39) |
L1561Q |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,254,908 (GRCm39) |
|
probably null |
Het |
| Myorg |
A |
G |
4: 41,497,539 (GRCm39) |
V697A |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,070,081 (GRCm39) |
H251Q |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,646,566 (GRCm39) |
D1366G |
possibly damaging |
Het |
| Or2b7 |
A |
G |
13: 21,739,958 (GRCm39) |
V78A |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,336,750 (GRCm39) |
|
probably null |
Het |
| Pde6c |
A |
C |
19: 38,121,628 (GRCm39) |
M79L |
probably benign |
Het |
| Pld5 |
C |
T |
1: 175,803,018 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,541,142 (GRCm39) |
V387A |
probably damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,890 (GRCm39) |
D79G |
probably benign |
Het |
| Tmem243 |
A |
T |
5: 9,168,488 (GRCm39) |
K90I |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,192,289 (GRCm39) |
H260R |
probably damaging |
Het |
| Trappc1 |
A |
G |
11: 69,215,636 (GRCm39) |
|
probably benign |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp300 |
T |
C |
X: 20,949,164 (GRCm39) |
Y200C |
possibly damaging |
Het |
|
| Other mutations in Polr1g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02028:Polr1g
|
APN |
7 |
19,091,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02472:Polr1g
|
APN |
7 |
19,093,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4548:Polr1g
|
UTSW |
7 |
19,091,169 (GRCm39) |
unclassified |
probably benign |
|
|
R0544:Polr1g
|
UTSW |
7 |
19,093,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Polr1g
|
UTSW |
7 |
19,091,904 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4863:Polr1g
|
UTSW |
7 |
19,091,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Polr1g
|
UTSW |
7 |
19,091,487 (GRCm39) |
missense |
probably benign |
|
|
R6161:Polr1g
|
UTSW |
7 |
19,091,558 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7340:Polr1g
|
UTSW |
7 |
19,093,073 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8857:Polr1g
|
UTSW |
7 |
19,093,355 (GRCm39) |
unclassified |
probably benign |
|
|
R9532:Polr1g
|
UTSW |
7 |
19,091,817 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACACAAGAGCTACTTCAGCCTG -3'
(R):5'- AAGGGTACAGATGCCTCCTCAGAC -3'
Sequencing Primer
(F):5'- CTACTTCAGCCTGGAGCC -3'
(R):5'- CACTCAGGAGGCTGTGAAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation