Incidental Mutation 'R0013:Rrn3'
| ID |
7967 |
| 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 |
038308-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0013 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
13598572-13632703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13630977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 604
(D604E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023363]
|
| AlphaFold |
B2RS91 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023363
AA Change: D604E
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: D604E
| 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 |
|
| Meta Mutation Damage Score |
0.1523 |
| Coding Region Coverage |
- 1x: 79.5%
- 3x: 71.1%
- 10x: 47.6%
- 20x: 27.2%
|
| Validation Efficiency |
94% (77/82) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
A |
T |
18: 80,172,960 (GRCm39) |
V483D |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,570,257 (GRCm39) |
C911* |
probably null |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,065,269 (GRCm39) |
L685H |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,461 (GRCm39) |
F448L |
probably damaging |
Het |
| Dnmbp |
G |
A |
19: 43,890,670 (GRCm39) |
P366S |
probably benign |
Het |
| Elmod1 |
G |
A |
9: 53,820,185 (GRCm39) |
|
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,153,664 (GRCm39) |
N320S |
probably damaging |
Het |
| Glp2r |
C |
A |
11: 67,600,538 (GRCm39) |
G437V |
possibly damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,408 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,971,625 (GRCm39) |
F315S |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,683,895 (GRCm39) |
N1059Y |
possibly damaging |
Het |
| Kdm5d |
A |
T |
Y: 941,715 (GRCm39) |
K1305N |
probably benign |
Homo |
| Mboat7 |
A |
G |
7: 3,686,821 (GRCm39) |
S340P |
probably damaging |
Het |
| Mex3c |
G |
A |
18: 73,723,622 (GRCm39) |
A572T |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,767,489 (GRCm39) |
|
probably benign |
Het |
| Myog |
T |
A |
1: 134,217,973 (GRCm39) |
H60Q |
probably damaging |
Het |
| Pgm5 |
A |
C |
19: 24,710,904 (GRCm39) |
|
probably null |
Het |
| Plb1 |
T |
A |
5: 32,506,959 (GRCm39) |
|
probably benign |
Het |
| Ppm1e |
A |
G |
11: 87,139,884 (GRCm39) |
|
probably benign |
Het |
| Prss46 |
G |
T |
9: 110,679,123 (GRCm39) |
S108I |
probably damaging |
Het |
| Ptma |
C |
T |
1: 86,457,498 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,041,297 (GRCm39) |
|
probably null |
Het |
| Scn4a |
A |
G |
11: 106,239,231 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
G |
3: 72,817,809 (GRCm39) |
L1468P |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,745 (GRCm39) |
M1450V |
probably benign |
Het |
| Tppp |
A |
G |
13: 74,169,479 (GRCm39) |
K73R |
possibly damaging |
Het |
| Tut4 |
T |
A |
4: 108,388,152 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
A |
T |
9: 107,855,448 (GRCm39) |
Y375F |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,213,931 (GRCm39) |
L171P |
possibly damaging |
Het |
| Vsig2 |
T |
C |
9: 37,453,872 (GRCm39) |
|
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,820 (GRCm39) |
S692T |
possibly 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 |
|
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 |
2012-11-20 |
Incidental Mutation