Incidental Mutation 'R2994:Polr1e'
ID |
257139 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Polr1e
|
Ensembl Gene |
ENSMUSG00000028318 |
Gene Name |
polymerase (RNA) I polypeptide E |
Synonyms |
53kDa, Praf1, Paf53, D030019D19Rik |
MMRRC Submission |
040529-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2994 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
45018609-45034279 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 45027473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029999]
[ENSMUST00000107814]
[ENSMUST00000133157]
|
AlphaFold |
Q8K202 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029999
|
SMART Domains |
Protein: ENSMUSP00000029999 Gene: ENSMUSG00000028318
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_I_A49
|
51 |
476 |
2.1e-98 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000054723
|
SMART Domains |
Protein: ENSMUSP00000059941 Gene: ENSMUSG00000028318
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_I_A49
|
24 |
401 |
7.9e-104 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107814
|
SMART Domains |
Protein: ENSMUSP00000103444 Gene: ENSMUSG00000028318
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_I_A49
|
49 |
385 |
4.1e-105 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000133157
|
SMART Domains |
Protein: ENSMUSP00000121007 Gene: ENSMUSG00000028318
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_I_A49
|
49 |
431 |
1.4e-117 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150663
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153252
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,603,538 (GRCm39) |
S577P |
probably damaging |
Het |
Agrn |
T |
C |
4: 156,251,785 (GRCm39) |
T1826A |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Btnl6 |
C |
A |
17: 34,734,498 (GRCm39) |
R88I |
possibly damaging |
Het |
Cfap52 |
T |
A |
11: 67,830,617 (GRCm39) |
Y281F |
probably benign |
Het |
CK137956 |
T |
C |
4: 127,845,300 (GRCm39) |
T148A |
probably benign |
Het |
Fpr3 |
C |
T |
17: 18,191,130 (GRCm39) |
Q134* |
probably null |
Het |
Gbp4 |
A |
T |
5: 105,284,886 (GRCm39) |
M1K |
probably null |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Nedd4 |
A |
G |
9: 72,638,185 (GRCm39) |
D440G |
probably benign |
Het |
Nlgn1 |
C |
T |
3: 25,490,162 (GRCm39) |
D522N |
probably damaging |
Het |
Oprk1 |
T |
C |
1: 5,672,955 (GRCm39) |
V364A |
probably benign |
Het |
Or1e35 |
T |
C |
11: 73,797,541 (GRCm39) |
Y259C |
probably damaging |
Het |
Or5d18 |
A |
G |
2: 87,865,301 (GRCm39) |
Y61H |
probably damaging |
Het |
Psmd11 |
T |
C |
11: 80,351,493 (GRCm39) |
Y239H |
probably damaging |
Het |
Ripor2 |
A |
T |
13: 24,885,610 (GRCm39) |
D576V |
probably damaging |
Het |
Rundc3a |
C |
T |
11: 102,291,489 (GRCm39) |
T327I |
probably damaging |
Het |
Sh3rf1 |
A |
G |
8: 61,825,609 (GRCm39) |
T535A |
probably benign |
Het |
Slc13a2 |
T |
A |
11: 78,295,563 (GRCm39) |
E101V |
probably damaging |
Het |
Tg |
A |
T |
15: 66,553,802 (GRCm39) |
T406S |
probably benign |
Het |
Tjp2 |
T |
C |
19: 24,090,215 (GRCm39) |
E609G |
probably damaging |
Het |
Zfp459 |
G |
A |
13: 67,556,853 (GRCm39) |
P77S |
possibly damaging |
Het |
Zfp612 |
A |
G |
8: 110,816,049 (GRCm39) |
K380E |
probably damaging |
Het |
Zfp629 |
T |
C |
7: 127,210,228 (GRCm39) |
E527G |
probably damaging |
Het |
|
Other mutations in Polr1e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00973:Polr1e
|
APN |
4 |
45,031,364 (GRCm39) |
unclassified |
probably benign |
|
IGL01146:Polr1e
|
APN |
4 |
45,031,369 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01514:Polr1e
|
APN |
4 |
45,018,723 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01533:Polr1e
|
APN |
4 |
45,019,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R0207:Polr1e
|
UTSW |
4 |
45,025,143 (GRCm39) |
splice site |
probably null |
|
R0562:Polr1e
|
UTSW |
4 |
45,029,421 (GRCm39) |
missense |
probably damaging |
0.99 |
R0761:Polr1e
|
UTSW |
4 |
45,027,392 (GRCm39) |
missense |
probably damaging |
0.98 |
R1472:Polr1e
|
UTSW |
4 |
45,028,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R1707:Polr1e
|
UTSW |
4 |
45,027,469 (GRCm39) |
missense |
probably damaging |
0.99 |
R3054:Polr1e
|
UTSW |
4 |
45,018,724 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4031:Polr1e
|
UTSW |
4 |
45,018,685 (GRCm39) |
missense |
probably benign |
0.02 |
R4195:Polr1e
|
UTSW |
4 |
45,019,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Polr1e
|
UTSW |
4 |
45,019,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R4806:Polr1e
|
UTSW |
4 |
45,024,482 (GRCm39) |
missense |
probably benign |
|
R4880:Polr1e
|
UTSW |
4 |
45,022,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Polr1e
|
UTSW |
4 |
45,029,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R4966:Polr1e
|
UTSW |
4 |
45,029,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R5605:Polr1e
|
UTSW |
4 |
45,018,723 (GRCm39) |
missense |
probably benign |
0.00 |
R5934:Polr1e
|
UTSW |
4 |
45,029,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R6358:Polr1e
|
UTSW |
4 |
45,026,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R7241:Polr1e
|
UTSW |
4 |
45,029,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R7436:Polr1e
|
UTSW |
4 |
45,024,553 (GRCm39) |
splice site |
probably null |
|
R8952:Polr1e
|
UTSW |
4 |
45,018,727 (GRCm39) |
missense |
probably damaging |
0.98 |
R9460:Polr1e
|
UTSW |
4 |
45,018,691 (GRCm39) |
missense |
probably benign |
0.25 |
R9709:Polr1e
|
UTSW |
4 |
45,018,678 (GRCm39) |
missense |
probably benign |
|
X0061:Polr1e
|
UTSW |
4 |
45,029,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGCAGGTGTTCACATTCG -3'
(R):5'- CAGTGCTGAGGAAACCTAACTTC -3'
Sequencing Primer
(F):5'- CACATTCGAGTTTCAGAACGTGTG -3'
(R):5'- TAACTTCCCAACCTCTTGCTAACAG -3'
|
Posted On |
2015-01-11 |