Incidental Mutation 'IGL00973:Polr1e'
| ID |
27340 |
| 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 # |
IGL00973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
45018609-45034279 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 45031364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029999]
[ENSMUST00000052236]
[ENSMUST00000107814]
[ENSMUST00000133157]
|
| AlphaFold |
Q8K202 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000052236
|
| SMART Domains |
Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
6 |
48 |
1.92e-6 |
SMART |
|
PbH1
|
198 |
217 |
8.34e3 |
SMART |
|
PbH1
|
238 |
260 |
1.37e3 |
SMART |
|
CASH
|
337 |
511 |
7.29e-6 |
SMART |
|
PbH1
|
423 |
444 |
1.41e2 |
SMART |
|
PbH1
|
467 |
489 |
1.33e3 |
SMART |
|
PbH1
|
490 |
512 |
1.32e2 |
SMART |
|
PbH1
|
513 |
535 |
8.34e3 |
SMART |
|
PbH1
|
536 |
558 |
2.87e1 |
SMART |
|
CASH
|
536 |
672 |
5.49e1 |
SMART |
|
PbH1
|
559 |
581 |
1.25e1 |
SMART |
|
PbH1
|
582 |
604 |
2.64e2 |
SMART |
|
PbH1
|
605 |
627 |
6.05e3 |
SMART |
|
PbH1
|
628 |
650 |
2.46e2 |
SMART |
|
PbH1
|
651 |
673 |
2.14e2 |
SMART |
|
CASH
|
681 |
804 |
6.58e1 |
SMART |
|
PbH1
|
713 |
735 |
6.52e2 |
SMART |
|
PbH1
|
736 |
758 |
5.92e2 |
SMART |
|
PbH1
|
760 |
782 |
1.13e3 |
SMART |
|
PbH1
|
783 |
805 |
1.86e2 |
SMART |
|
PbH1
|
828 |
850 |
9.32e1 |
SMART |
|
| 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 |
probably benign
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 benign
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 |
probably benign
Transcript: ENSMUST00000140008
|
| SMART Domains |
Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
| Domain | Start | End | E-Value | Type |
|---|
|
PbH1
|
25 |
44 |
8.34e3 |
SMART |
|
PbH1
|
65 |
87 |
1.37e3 |
SMART |
|
CASH
|
164 |
338 |
7.29e-6 |
SMART |
|
PbH1
|
250 |
271 |
1.41e2 |
SMART |
|
PbH1
|
294 |
316 |
1.33e3 |
SMART |
|
PbH1
|
317 |
339 |
1.32e2 |
SMART |
|
PbH1
|
340 |
362 |
8.34e3 |
SMART |
|
PbH1
|
363 |
385 |
2.87e1 |
SMART |
|
CASH
|
363 |
499 |
5.49e1 |
SMART |
|
PbH1
|
386 |
408 |
1.25e1 |
SMART |
|
PbH1
|
409 |
431 |
2.64e2 |
SMART |
|
PbH1
|
432 |
454 |
6.05e3 |
SMART |
|
PbH1
|
455 |
477 |
2.46e2 |
SMART |
|
PbH1
|
478 |
500 |
2.14e2 |
SMART |
|
CASH
|
508 |
631 |
6.58e1 |
SMART |
|
PbH1
|
540 |
562 |
6.52e2 |
SMART |
|
PbH1
|
563 |
585 |
5.92e2 |
SMART |
|
PbH1
|
587 |
609 |
1.13e3 |
SMART |
|
PbH1
|
610 |
632 |
1.86e2 |
SMART |
|
PbH1
|
655 |
677 |
9.32e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153252
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10a |
G |
T |
7: 58,457,218 (GRCm39) |
D906Y |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,173,882 (GRCm39) |
K32R |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,941,090 (GRCm39) |
A636V |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,245 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,758 (GRCm39) |
K374Q |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,129,791 (GRCm39) |
R962C |
probably damaging |
Het |
| Frrs1l |
T |
C |
4: 56,972,369 (GRCm39) |
K111E |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,951 (GRCm39) |
T184A |
probably benign |
Het |
| Glud1 |
C |
T |
14: 34,041,899 (GRCm39) |
T169I |
probably damaging |
Het |
| Hinfp |
T |
G |
9: 44,209,436 (GRCm39) |
D283A |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,273,833 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
A |
T |
14: 120,106,819 (GRCm39) |
Y409F |
possibly damaging |
Het |
| Ighv15-2 |
A |
T |
12: 114,528,490 (GRCm39) |
V20D |
possibly damaging |
Het |
| Kif17 |
A |
G |
4: 138,002,368 (GRCm39) |
T91A |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,911,885 (GRCm39) |
|
probably benign |
Het |
| Myo1e |
C |
T |
9: 70,246,069 (GRCm39) |
T420M |
probably damaging |
Het |
| Or8b12c |
C |
A |
9: 37,716,078 (GRCm39) |
S290R |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,888,593 (GRCm39) |
Y316* |
probably null |
Het |
| Plekha1 |
T |
A |
7: 130,512,743 (GRCm39) |
V313D |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,607,367 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
A |
1: 119,669,101 (GRCm39) |
M250L |
probably benign |
Het |
| Rtn1 |
A |
T |
12: 72,455,285 (GRCm39) |
L14Q |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,620,404 (GRCm39) |
|
probably null |
Het |
| Sox7 |
A |
G |
14: 64,185,636 (GRCm39) |
H224R |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,927,027 (GRCm39) |
S862G |
probably benign |
Het |
| Sucla2 |
T |
C |
14: 73,828,347 (GRCm39) |
I318T |
possibly damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,408 (GRCm39) |
|
probably benign |
Het |
| Ube2o |
T |
A |
11: 116,432,031 (GRCm39) |
K940M |
probably damaging |
Het |
| Usp20 |
A |
C |
2: 30,894,962 (GRCm39) |
N149T |
probably damaging |
Het |
| Utp6 |
C |
T |
11: 79,846,531 (GRCm39) |
W150* |
probably null |
Het |
| Wdr27 |
A |
C |
17: 15,134,140 (GRCm39) |
H475Q |
probably benign |
Het |
|
| Other mutations in Polr1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation