Incidental Mutation 'IGL01664:Polr3e'
| ID |
103272 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr3e
|
| Ensembl Gene |
ENSMUSG00000030880 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide E |
| Synonyms |
RPC5, Sin |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL01664
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
120516967-120546655 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 120530540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033173]
[ENSMUST00000106483]
[ENSMUST00000207481]
|
| AlphaFold |
Q9CZT4 |
| Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000207481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209014
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Col19a1 |
T |
A |
1: 24,600,416 (GRCm39) |
Y42F |
unknown |
Het |
| Ddx31 |
T |
C |
2: 28,765,847 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
G |
A |
6: 91,210,439 (GRCm39) |
D128N |
probably damaging |
Het |
| Fgf7 |
G |
T |
2: 125,877,907 (GRCm39) |
M91I |
probably benign |
Het |
| Gm28539 |
A |
G |
16: 18,655,523 (GRCm39) |
H31R |
possibly damaging |
Het |
| Hivep1 |
T |
G |
13: 42,312,755 (GRCm39) |
V1665G |
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,442,044 (GRCm39) |
|
probably benign |
Het |
| Il10 |
G |
T |
1: 130,949,214 (GRCm39) |
R125L |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,114,531 (GRCm39) |
R574H |
probably damaging |
Het |
| Lmln |
A |
G |
16: 32,901,357 (GRCm39) |
E251G |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,728,002 (GRCm39) |
N57D |
probably benign |
Het |
| Or52n2c |
T |
C |
7: 104,574,311 (GRCm39) |
Y220C |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,771,423 (GRCm39) |
L253Q |
probably damaging |
Het |
| Otol1 |
A |
G |
3: 69,935,130 (GRCm39) |
D374G |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,314 (GRCm39) |
V182A |
probably benign |
Het |
| Sectm1a |
A |
T |
11: 120,959,870 (GRCm39) |
S149T |
possibly damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,926,761 (GRCm39) |
|
noncoding transcript |
Het |
| Sox1ot |
A |
G |
8: 12,480,670 (GRCm39) |
|
noncoding transcript |
Het |
| Tnik |
G |
T |
3: 28,692,628 (GRCm39) |
G895C |
probably damaging |
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 |
|
|
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 |
|
R4416:Polr3e
|
UTSW |
7 |
120,538,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation