Incidental Mutation 'R4343:Rrn3'
ID |
324238 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrn3
|
Ensembl Gene |
ENSMUSG00000022682 |
Gene Name |
RRN3 RNA polymerase I transcription factor homolog (yeast) |
Synonyms |
TIF-1A, E130302O19Rik |
MMRRC Submission |
041665-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4343 (G1)
|
Quality Score |
163 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
13598572-13632703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13601986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 80
(D80G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023363]
|
AlphaFold |
B2RS91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023363
AA Change: D80G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000023363 Gene: ENSMUSG00000022682 AA Change: D80G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230102
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
Diras1 |
T |
A |
10: 80,858,018 (GRCm39) |
K78* |
probably null |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Gm8674 |
T |
A |
13: 50,053,742 (GRCm39) |
|
noncoding transcript |
Het |
Gnal |
T |
C |
18: 67,268,659 (GRCm39) |
S182P |
probably benign |
Het |
Grik1 |
T |
C |
16: 87,693,140 (GRCm39) |
T932A |
probably benign |
Het |
Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
Mki67 |
A |
G |
7: 135,296,847 (GRCm39) |
V2729A |
probably benign |
Het |
Mmp20 |
GA |
GAA |
9: 7,628,346 (GRCm39) |
|
probably null |
Het |
Myo7b |
A |
G |
18: 32,116,680 (GRCm39) |
F976L |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
Npc1l1 |
G |
A |
11: 6,167,773 (GRCm39) |
T1006I |
probably benign |
Het |
Or5g9 |
T |
A |
2: 85,552,592 (GRCm39) |
V281E |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,501,780 (GRCm39) |
E656G |
probably damaging |
Het |
Prep |
C |
A |
10: 44,996,866 (GRCm39) |
S381R |
probably damaging |
Het |
Rab31 |
C |
T |
17: 65,961,414 (GRCm39) |
R192H |
probably benign |
Het |
Rbm5 |
T |
C |
9: 107,629,395 (GRCm39) |
D319G |
probably damaging |
Het |
Rexo2 |
T |
C |
9: 48,380,148 (GRCm39) |
E228G |
possibly damaging |
Het |
Slc38a3 |
A |
G |
9: 107,533,671 (GRCm39) |
V224A |
possibly damaging |
Het |
Slc66a2 |
A |
G |
18: 80,327,004 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
T |
C |
2: 178,022,740 (GRCm39) |
T464A |
probably damaging |
Het |
Tpcn1 |
A |
T |
5: 120,698,285 (GRCm39) |
L79H |
probably damaging |
Het |
Trim30a |
T |
C |
7: 104,084,799 (GRCm39) |
Q137R |
probably benign |
Het |
Tyrp1 |
A |
G |
4: 80,768,078 (GRCm39) |
D92G |
possibly damaging |
Het |
Ugt1a6a |
T |
C |
1: 88,066,248 (GRCm39) |
L18P |
probably damaging |
Het |
Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,159,019 (GRCm39) |
M598K |
probably damaging |
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 |
|
IGL03217:Rrn3
|
APN |
16 |
13,626,875 (GRCm39) |
missense |
possibly damaging |
0.83 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGATATGTAGACGTTTCATGGTTCC -3'
(R):5'- AAGGAGTCCTGCCCTTCAAC -3'
Sequencing Primer
(F):5'- CATGGTTCCTTTTGTAGTTCCATGAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2015-06-24 |