Incidental Mutation 'IGL03217:Rrn3'
| ID |
413499 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rrn3
|
| Ensembl Gene |
ENSMUSG00000022682 |
| Gene Name |
RRN3 RNA polymerase I transcription factor homolog (yeast) |
| Synonyms |
TIF-1A, E130302O19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
13598572-13632703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 13626875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 490
(E490K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023363]
|
| AlphaFold |
B2RS91 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023363
AA Change: E490K
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: E490K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:RRN3
|
46 |
584 |
7.5e-138 |
PFAM |
|
low complexity region
|
597 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
641 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, failure to undergo embryonic turning, delayed embryonic development, markedly reduced embryo size, and increased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(38) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(36) |
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,430 (GRCm39) |
I29T |
probably damaging |
Het |
| Adam2 |
G |
A |
14: 66,272,262 (GRCm39) |
P640L |
possibly damaging |
Het |
| Ccl4 |
T |
C |
11: 83,553,504 (GRCm39) |
S6P |
unknown |
Het |
| Cd300lf |
T |
A |
11: 115,015,117 (GRCm39) |
T151S |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 131,945,778 (GRCm39) |
T219A |
probably benign |
Het |
| Eml1 |
G |
T |
12: 108,501,201 (GRCm39) |
E680D |
probably benign |
Het |
| Gm9755 |
T |
C |
8: 67,967,035 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
T |
1: 150,619,418 (GRCm39) |
I1232N |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,531,295 (GRCm39) |
S170P |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,708,529 (GRCm39) |
M536K |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nxf2 |
T |
C |
X: 133,856,281 (GRCm39) |
I287V |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,065,039 (GRCm39) |
D17G |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,567,432 (GRCm39) |
C270R |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,356,955 (GRCm39) |
D750G |
probably damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,428,172 (GRCm39) |
G519D |
possibly damaging |
Het |
| Sox5 |
A |
G |
6: 143,853,223 (GRCm39) |
S352P |
probably damaging |
Het |
| Spart |
G |
T |
3: 55,035,912 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
T |
C |
5: 87,737,947 (GRCm39) |
T45A |
possibly damaging |
Het |
| Tat |
G |
A |
8: 110,721,818 (GRCm39) |
V242I |
probably benign |
Het |
| Zfp442 |
A |
G |
2: 150,251,714 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rrn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Rrn3
|
APN |
16 |
13,626,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02507:Rrn3
|
APN |
16 |
13,606,721 (GRCm39) |
missense |
probably benign |
|
|
IGL02607:Rrn3
|
APN |
16 |
13,624,427 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02648:Rrn3
|
APN |
16 |
13,629,453 (GRCm39) |
missense |
probably benign |
|
|
IGL03403:Rrn3
|
APN |
16 |
13,617,809 (GRCm39) |
nonsense |
probably null |
|
|
11287:Rrn3
|
UTSW |
16 |
13,617,883 (GRCm39) |
splice site |
probably null |
|
|
ANU74:Rrn3
|
UTSW |
16 |
13,629,397 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0013:Rrn3
|
UTSW |
16 |
13,630,977 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0013:Rrn3
|
UTSW |
16 |
13,630,977 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0308:Rrn3
|
UTSW |
16 |
13,617,746 (GRCm39) |
splice site |
probably benign |
|
|
R1970:Rrn3
|
UTSW |
16 |
13,606,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Rrn3
|
UTSW |
16 |
13,601,959 (GRCm39) |
nonsense |
probably null |
|
|
R3959:Rrn3
|
UTSW |
16 |
13,599,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4343:Rrn3
|
UTSW |
16 |
13,601,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4678:Rrn3
|
UTSW |
16 |
13,613,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4920:Rrn3
|
UTSW |
16 |
13,608,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4925:Rrn3
|
UTSW |
16 |
13,617,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Rrn3
|
UTSW |
16 |
13,610,798 (GRCm39) |
splice site |
probably null |
|
|
R5469:Rrn3
|
UTSW |
16 |
13,630,964 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5702:Rrn3
|
UTSW |
16 |
13,631,130 (GRCm39) |
nonsense |
probably null |
|
|
R6059:Rrn3
|
UTSW |
16 |
13,624,468 (GRCm39) |
missense |
probably benign |
|
|
R6425:Rrn3
|
UTSW |
16 |
13,629,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7582:Rrn3
|
UTSW |
16 |
13,628,375 (GRCm39) |
nonsense |
probably null |
|
|
R7814:Rrn3
|
UTSW |
16 |
13,629,453 (GRCm39) |
missense |
probably benign |
|
|
R8332:Rrn3
|
UTSW |
16 |
13,616,484 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9315:Rrn3
|
UTSW |
16 |
13,606,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9752:Rrn3
|
UTSW |
16 |
13,631,095 (GRCm39) |
missense |
probably benign |
|
|
R9757:Rrn3
|
UTSW |
16 |
13,628,433 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Rrn3
|
UTSW |
16 |
13,631,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rrn3
|
UTSW |
16 |
13,606,710 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2016-08-02 |
Incidental Mutation