Incidental Mutation 'IGL01514:Polr1e'
| ID |
89324 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr1e
|
| Ensembl Gene |
ENSMUSG00000028318 |
| Gene Name |
polymerase (RNA) I polypeptide E |
| Synonyms |
53kDa, Praf1, Paf53, D030019D19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
45018609-45034279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45018723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 18
(T18A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029999]
[ENSMUST00000107814]
[ENSMUST00000133157]
|
| AlphaFold |
Q8K202 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029999
AA Change: T18A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029999
Gene: ENSMUSG00000028318
AA Change: T18A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_I_A49
|
51 |
476 |
2.1e-98 |
PFAM |
|
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000095105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107814
AA Change: T18A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103444
Gene: ENSMUSG00000028318
AA Change: T18A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_I_A49
|
49 |
385 |
4.1e-105 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133157
AA Change: T18A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121007
Gene: ENSMUSG00000028318
AA Change: T18A
| 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: ENSMUST00000186030
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
G |
2: 93,669,587 (GRCm39) |
|
probably benign |
Het |
| Actl7b |
T |
C |
4: 56,740,677 (GRCm39) |
Y227C |
probably damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,485 (GRCm39) |
H668Q |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,094,653 (GRCm39) |
|
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,144,624 (GRCm39) |
|
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,891,130 (GRCm39) |
G801V |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,522,866 (GRCm39) |
T1006I |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,259,134 (GRCm39) |
|
probably benign |
Het |
| Cldn34b3 |
A |
T |
X: 75,310,680 (GRCm39) |
I83F |
probably damaging |
Het |
| Clec2g |
G |
A |
6: 128,925,736 (GRCm39) |
M48I |
probably benign |
Het |
| Coch |
A |
G |
12: 51,650,136 (GRCm39) |
D375G |
probably damaging |
Het |
| Erbb2 |
C |
T |
11: 98,323,745 (GRCm39) |
T653I |
possibly damaging |
Het |
| Etv3 |
A |
G |
3: 87,443,025 (GRCm39) |
H203R |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,003,683 (GRCm39) |
R1801G |
possibly damaging |
Het |
| Gars1 |
T |
A |
6: 55,042,505 (GRCm39) |
S413T |
probably benign |
Het |
| Gnat1 |
G |
A |
9: 107,553,500 (GRCm39) |
R253C |
possibly damaging |
Het |
| Hook3 |
A |
T |
8: 26,578,217 (GRCm39) |
L91I |
possibly damaging |
Het |
| Lrp8 |
T |
C |
4: 107,712,881 (GRCm39) |
Y377H |
probably damaging |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Malt1 |
A |
G |
18: 65,609,471 (GRCm39) |
D825G |
possibly damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,779,859 (GRCm39) |
|
probably null |
Het |
| Or1x2 |
C |
T |
11: 50,918,416 (GRCm39) |
R196* |
probably null |
Het |
| Or2v2 |
A |
T |
11: 49,004,403 (GRCm39) |
I50N |
probably damaging |
Het |
| Orc1 |
A |
G |
4: 108,459,249 (GRCm39) |
R473G |
probably damaging |
Het |
| Pard6g |
G |
A |
18: 80,160,661 (GRCm39) |
R258H |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,702,264 (GRCm39) |
D1224G |
possibly damaging |
Het |
| Pycr3 |
T |
C |
15: 75,788,853 (GRCm39) |
T240A |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,766,442 (GRCm39) |
G1284V |
probably damaging |
Het |
| Rcl1 |
T |
C |
19: 29,120,698 (GRCm39) |
|
probably benign |
Het |
| Sec24c |
C |
T |
14: 20,732,839 (GRCm39) |
T134I |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,843,253 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
C |
9: 113,897,947 (GRCm39) |
|
probably benign |
Het |
| Tlk1 |
T |
C |
2: 70,582,610 (GRCm39) |
N173S |
probably benign |
Het |
| Uroc1 |
T |
C |
6: 90,340,082 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R2994:Polr1e
|
UTSW |
4 |
45,027,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation