Incidental Mutation 'R4416:Polr3e'
| ID |
326842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr3e
|
| Ensembl Gene |
ENSMUSG00000030880 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide E |
| Synonyms |
RPC5, Sin |
| MMRRC Submission |
041137-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R4416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
120516967-120546655 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 120538280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033173]
[ENSMUST00000106483]
[ENSMUST00000106483]
[ENSMUST00000207481]
[ENSMUST00000207481]
|
| AlphaFold |
Q9CZT4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033173
|
| SMART Domains |
Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sin_N
|
5 |
432 |
7.1e-161 |
PFAM |
|
coiled coil region
|
458 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106483
|
| SMART Domains |
Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sin_N
|
4 |
29 |
2.8e-10 |
PFAM |
|
Pfam:Sin_N
|
29 |
408 |
6.9e-141 |
PFAM |
|
coiled coil region
|
432 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106483
|
| SMART Domains |
Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sin_N
|
4 |
29 |
2.8e-10 |
PFAM |
|
Pfam:Sin_N
|
29 |
408 |
6.9e-141 |
PFAM |
|
coiled coil region
|
432 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207481
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209014
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
A |
15: 59,888,272 (GRCm39) |
E56V |
possibly damaging |
Het |
| Adam28 |
A |
G |
14: 68,859,531 (GRCm39) |
|
probably null |
Het |
| Bnc1 |
G |
T |
7: 81,618,708 (GRCm39) |
H786N |
probably benign |
Het |
| Cav1 |
T |
A |
6: 17,339,248 (GRCm39) |
M100K |
probably benign |
Het |
| Cdk9 |
A |
G |
2: 32,598,084 (GRCm39) |
L273P |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,026,703 (GRCm39) |
Q484R |
probably benign |
Het |
| Elfn1 |
T |
C |
5: 139,957,949 (GRCm39) |
S318P |
possibly damaging |
Het |
| Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
| Fhip2a |
G |
T |
19: 57,373,829 (GRCm39) |
|
probably null |
Het |
| Frmd6 |
T |
A |
12: 70,924,023 (GRCm39) |
Y94N |
probably benign |
Het |
| Gdpd1 |
A |
T |
11: 86,926,114 (GRCm39) |
V277D |
probably benign |
Het |
| Grik1 |
C |
A |
16: 87,848,349 (GRCm39) |
V140L |
probably benign |
Het |
| Grpel1 |
A |
G |
5: 36,628,616 (GRCm39) |
H175R |
probably damaging |
Het |
| Gtdc1 |
G |
T |
2: 44,465,602 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
T |
10: 14,004,914 (GRCm39) |
Q504L |
probably benign |
Het |
| Icos |
A |
T |
1: 61,033,849 (GRCm39) |
I160L |
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,234,213 (GRCm39) |
C442F |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,565,562 (GRCm39) |
V1062A |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 40,553,679 (GRCm39) |
V386I |
unknown |
Het |
| Lrp2 |
G |
T |
2: 69,357,575 (GRCm39) |
F409L |
probably benign |
Het |
| Nadk |
T |
G |
4: 155,672,183 (GRCm39) |
Y291* |
probably null |
Het |
| Nudt6 |
A |
T |
3: 37,459,378 (GRCm39) |
|
probably null |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or2ag1b |
G |
A |
7: 106,288,218 (GRCm39) |
T240I |
probably benign |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Or8d6 |
A |
G |
9: 39,853,724 (GRCm39) |
H56R |
probably damaging |
Het |
| Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
| Pds5b |
C |
T |
5: 150,659,861 (GRCm39) |
P275S |
probably damaging |
Het |
| Pdzd7 |
T |
A |
19: 45,029,019 (GRCm39) |
E117V |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,515,679 (GRCm39) |
V784A |
probably damaging |
Het |
| Rab3gap2 |
A |
T |
1: 185,014,544 (GRCm39) |
D1231V |
probably benign |
Het |
| Rapgef2 |
C |
A |
3: 78,976,364 (GRCm39) |
G1481* |
probably null |
Het |
| Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,097,008 (GRCm39) |
D96G |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Srp9 |
A |
T |
1: 181,958,976 (GRCm39) |
M50L |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Sult1d1 |
A |
G |
5: 87,706,435 (GRCm39) |
F169S |
probably damaging |
Het |
| Tmem63c |
C |
G |
12: 87,128,676 (GRCm39) |
T567R |
probably benign |
Het |
| Tmf1 |
G |
T |
6: 97,155,949 (GRCm39) |
F12L |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,089,071 (GRCm39) |
I342T |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 65,968,606 (GRCm39) |
N712K |
probably damaging |
Het |
| Vti1a |
T |
G |
19: 55,369,380 (GRCm39) |
S91A |
probably benign |
Het |
|
| Other mutations in Polr3e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Polr3e
|
APN |
7 |
120,540,034 (GRCm39) |
nonsense |
probably null |
|
|
IGL01664:Polr3e
|
APN |
7 |
120,530,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL01980:Polr3e
|
APN |
7 |
120,539,519 (GRCm39) |
splice site |
probably benign |
|
|
IGL02027:Polr3e
|
APN |
7 |
120,530,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02208:Polr3e
|
APN |
7 |
120,531,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02549:Polr3e
|
APN |
7 |
120,538,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03338:Polr3e
|
APN |
7 |
120,536,843 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1192:Polr3e
|
UTSW |
7 |
120,532,531 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1328:Polr3e
|
UTSW |
7 |
120,533,046 (GRCm39) |
splice site |
probably benign |
|
|
R1435:Polr3e
|
UTSW |
7 |
120,540,011 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1528:Polr3e
|
UTSW |
7 |
120,539,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Polr3e
|
UTSW |
7 |
120,538,521 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1924:Polr3e
|
UTSW |
7 |
120,539,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Polr3e
|
UTSW |
7 |
120,531,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Polr3e
|
UTSW |
7 |
120,531,465 (GRCm39) |
missense |
probably benign |
|
|
R2362:Polr3e
|
UTSW |
7 |
120,541,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2696:Polr3e
|
UTSW |
7 |
120,532,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5278:Polr3e
|
UTSW |
7 |
120,522,184 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5560:Polr3e
|
UTSW |
7 |
120,522,172 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5689:Polr3e
|
UTSW |
7 |
120,539,912 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5790:Polr3e
|
UTSW |
7 |
120,527,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6242:Polr3e
|
UTSW |
7 |
120,539,690 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6317:Polr3e
|
UTSW |
7 |
120,527,205 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6334:Polr3e
|
UTSW |
7 |
120,527,222 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6891:Polr3e
|
UTSW |
7 |
120,543,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7110:Polr3e
|
UTSW |
7 |
120,539,510 (GRCm39) |
splice site |
probably null |
|
|
R7771:Polr3e
|
UTSW |
7 |
120,539,801 (GRCm39) |
missense |
probably benign |
|
|
R7809:Polr3e
|
UTSW |
7 |
120,523,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8431:Polr3e
|
UTSW |
7 |
120,530,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8753:Polr3e
|
UTSW |
7 |
120,539,540 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9038:Polr3e
|
UTSW |
7 |
120,536,906 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9049:Polr3e
|
UTSW |
7 |
120,538,462 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGCTGAAGGTGTCTCAG -3'
(R):5'- TTGATAAACTCCAGGTCGTAAGGC -3'
Sequencing Primer
(F):5'- TCTCAGGTGTAGAGGCTACCCAAG -3'
(R):5'- CAGTAAGAACTCCCAGCCTTTGTTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation