Incidental Mutation 'IGL03403:Rrn3'
| ID |
421493 |
| 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 |
Genbank: NM_001039521; MGI: 1925255 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
13780708-13814839 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 13799945 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 351
(K351*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023363]
|
| AlphaFold |
B2RS91 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023363
AA Change: K351*
|
| SMART Domains |
Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: K351*
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
A |
C |
15: 8,201,342 (GRCm38) |
K1034N |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,241,488 (GRCm38) |
I382N |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,863,014 (GRCm38) |
T797A |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,504,326 (GRCm38) |
V598E |
possibly damaging |
Het |
| Akap10 |
A |
G |
11: 61,915,273 (GRCm38) |
S210P |
probably benign |
Het |
| Asb5 |
G |
T |
8: 54,583,547 (GRCm38) |
|
probably benign |
Het |
| AU041133 |
T |
C |
10: 82,138,344 (GRCm38) |
V31A |
probably damaging |
Het |
| Bcar3 |
T |
C |
3: 122,512,969 (GRCm38) |
V197A |
probably benign |
Het |
| Bptf |
A |
G |
11: 107,099,733 (GRCm38) |
V510A |
possibly damaging |
Het |
| Ccar2 |
A |
T |
14: 70,140,068 (GRCm38) |
D712E |
probably damaging |
Het |
| Cenpt |
G |
A |
8: 105,849,665 (GRCm38) |
Q85* |
probably null |
Het |
| Ciita |
C |
A |
16: 10,503,872 (GRCm38) |
H98N |
probably damaging |
Het |
| Csn1s1 |
T |
A |
5: 87,667,293 (GRCm38) |
M16K |
probably benign |
Het |
| Fah |
A |
G |
7: 84,593,209 (GRCm38) |
I297T |
probably damaging |
Het |
| Fbxo25 |
A |
G |
8: 13,929,423 (GRCm38) |
N214D |
probably benign |
Het |
| Frem3 |
A |
C |
8: 80,611,090 (GRCm38) |
D4A |
probably benign |
Het |
| Gm12800 |
T |
C |
4: 101,909,928 (GRCm38) |
S125P |
probably benign |
Het |
| Gm3409 |
A |
G |
5: 146,539,524 (GRCm38) |
K162E |
probably benign |
Het |
| Gxylt1 |
T |
C |
15: 93,261,775 (GRCm38) |
D148G |
possibly damaging |
Het |
| Hoxd4 |
A |
T |
2: 74,728,337 (GRCm38) |
E168V |
possibly damaging |
Het |
| Ifna6 |
A |
G |
4: 88,827,458 (GRCm38) |
S15G |
possibly damaging |
Het |
| Iqck |
T |
A |
7: 118,876,271 (GRCm38) |
H97Q |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,711,869 (GRCm38) |
E1003V |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 40,702,824 (GRCm38) |
P3761L |
probably benign |
Het |
| Mc4r |
C |
T |
18: 66,859,526 (GRCm38) |
C172Y |
possibly damaging |
Het |
| Olfr373 |
A |
G |
8: 72,100,497 (GRCm38) |
T246A |
probably benign |
Het |
| Oosp1 |
T |
A |
19: 11,687,380 (GRCm38) |
N104I |
probably damaging |
Het |
| Pram1 |
A |
T |
17: 33,642,143 (GRCm38) |
I513F |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,734,534 (GRCm38) |
S577P |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,690,173 (GRCm38) |
D144G |
possibly damaging |
Het |
| Rreb1 |
A |
C |
13: 37,929,574 (GRCm38) |
N303T |
possibly damaging |
Het |
| Sox30 |
A |
T |
11: 46,017,208 (GRCm38) |
E734V |
probably damaging |
Het |
| Spns1 |
C |
T |
7: 126,371,536 (GRCm38) |
|
probably null |
Het |
| Tgfbr2 |
T |
A |
9: 116,110,302 (GRCm38) |
E177D |
probably benign |
Het |
| Tnfaip8l3 |
A |
G |
9: 54,027,457 (GRCm38) |
M78T |
possibly damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,166,852 (GRCm38) |
T151I |
probably damaging |
Het |
| Wwc1 |
A |
G |
11: 35,915,284 (GRCm38) |
Y41H |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,560,797 (GRCm38) |
N730K |
probably damaging |
Het |
|
| Other mutations in Rrn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Rrn3
|
APN |
16 |
13,809,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02507:Rrn3
|
APN |
16 |
13,788,857 (GRCm38) |
missense |
probably benign |
|
|
IGL02607:Rrn3
|
APN |
16 |
13,806,563 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL02648:Rrn3
|
APN |
16 |
13,811,589 (GRCm38) |
missense |
probably benign |
|
|
IGL03217:Rrn3
|
APN |
16 |
13,809,011 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
11287:Rrn3
|
UTSW |
16 |
13,800,019 (GRCm38) |
splice site |
probably null |
|
|
ANU74:Rrn3
|
UTSW |
16 |
13,811,533 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0013:Rrn3
|
UTSW |
16 |
13,813,113 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0013:Rrn3
|
UTSW |
16 |
13,813,113 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0308:Rrn3
|
UTSW |
16 |
13,799,882 (GRCm38) |
splice site |
probably benign |
|
|
R1970:Rrn3
|
UTSW |
16 |
13,789,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3712:Rrn3
|
UTSW |
16 |
13,784,095 (GRCm38) |
nonsense |
probably null |
|
|
R3959:Rrn3
|
UTSW |
16 |
13,782,100 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4343:Rrn3
|
UTSW |
16 |
13,784,122 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4678:Rrn3
|
UTSW |
16 |
13,796,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4920:Rrn3
|
UTSW |
16 |
13,790,639 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4925:Rrn3
|
UTSW |
16 |
13,799,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5225:Rrn3
|
UTSW |
16 |
13,792,934 (GRCm38) |
splice site |
probably null |
|
|
R5469:Rrn3
|
UTSW |
16 |
13,813,100 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5702:Rrn3
|
UTSW |
16 |
13,813,266 (GRCm38) |
nonsense |
probably null |
|
|
R6059:Rrn3
|
UTSW |
16 |
13,806,604 (GRCm38) |
missense |
probably benign |
|
|
R6425:Rrn3
|
UTSW |
16 |
13,811,601 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7582:Rrn3
|
UTSW |
16 |
13,810,511 (GRCm38) |
nonsense |
probably null |
|
|
R7814:Rrn3
|
UTSW |
16 |
13,811,589 (GRCm38) |
missense |
probably benign |
|
|
R8332:Rrn3
|
UTSW |
16 |
13,798,620 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9315:Rrn3
|
UTSW |
16 |
13,788,826 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9752:Rrn3
|
UTSW |
16 |
13,813,231 (GRCm38) |
missense |
probably benign |
|
|
R9757:Rrn3
|
UTSW |
16 |
13,810,569 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1176:Rrn3
|
UTSW |
16 |
13,813,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Rrn3
|
UTSW |
16 |
13,788,846 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2016-08-02 |
Incidental Mutation