Incidental Mutation 'R5469:Rrn3'
| ID |
433429 |
| 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 |
043030-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5469 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
13598572-13632703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13630964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 600
(E600G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023363]
|
| AlphaFold |
B2RS91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023363
AA Change: E600G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: E600G
| 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 |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Allc |
A |
T |
12: 28,605,305 (GRCm39) |
N331K |
probably benign |
Het |
| Anapc1 |
G |
T |
2: 128,517,621 (GRCm39) |
S341* |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,319,683 (GRCm39) |
E1339G |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,557,676 (GRCm39) |
I702N |
probably damaging |
Het |
| Casp2 |
C |
A |
6: 42,246,268 (GRCm39) |
H209N |
probably benign |
Het |
| Casr |
A |
G |
16: 36,330,392 (GRCm39) |
V314A |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,201,353 (GRCm39) |
R294* |
probably null |
Het |
| Cd180 |
T |
A |
13: 102,841,342 (GRCm39) |
H129Q |
probably benign |
Het |
| Chst10 |
A |
T |
1: 38,904,608 (GRCm39) |
Y362N |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,372,573 (GRCm39) |
D509E |
probably benign |
Het |
| Ctsh |
G |
T |
9: 89,942,564 (GRCm39) |
|
probably null |
Het |
| Dhx29 |
C |
T |
13: 113,081,073 (GRCm39) |
A369V |
possibly damaging |
Het |
| Enox1 |
A |
G |
14: 77,830,414 (GRCm39) |
T340A |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,317,892 (GRCm39) |
T1357S |
probably benign |
Het |
| Flt3 |
A |
T |
5: 147,291,893 (GRCm39) |
S544T |
possibly damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Gsap |
A |
T |
5: 21,495,542 (GRCm39) |
Y831F |
possibly damaging |
Het |
| Hnrnpr |
C |
T |
4: 136,046,745 (GRCm39) |
T142M |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,131,417 (GRCm39) |
D94G |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,928,377 (GRCm39) |
E579D |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,917,185 (GRCm39) |
P2247S |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
| Mphosph10 |
A |
T |
7: 64,039,193 (GRCm39) |
|
probably null |
Het |
| Pappa |
C |
T |
4: 65,123,389 (GRCm39) |
T908M |
probably benign |
Het |
| Pdcd10 |
T |
A |
3: 75,428,364 (GRCm39) |
K150* |
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,160,935 (GRCm39) |
I2275N |
probably damaging |
Het |
| Pmvk |
T |
C |
3: 89,374,989 (GRCm39) |
|
probably null |
Het |
| Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,799,247 (GRCm39) |
Q759L |
probably damaging |
Het |
| Rad51ap1 |
C |
T |
6: 126,905,190 (GRCm39) |
S107N |
probably damaging |
Het |
| Rfk |
T |
A |
19: 17,372,566 (GRCm39) |
N29K |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,271,375 (GRCm39) |
M315V |
probably benign |
Het |
| Ryk |
A |
G |
9: 102,784,153 (GRCm39) |
Y593C |
possibly damaging |
Het |
| Slc30a3 |
T |
A |
5: 31,246,004 (GRCm39) |
D193V |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,427,370 (GRCm39) |
C421F |
possibly damaging |
Het |
| Sstr5 |
A |
C |
17: 25,711,043 (GRCm39) |
V62G |
probably damaging |
Het |
| Tfip11 |
G |
A |
5: 112,482,191 (GRCm39) |
W483* |
probably null |
Het |
| Tlk1 |
T |
C |
2: 70,552,012 (GRCm39) |
H553R |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,932,162 (GRCm39) |
|
probably null |
Het |
| Trav12-1 |
A |
G |
14: 53,775,930 (GRCm39) |
T27A |
probably damaging |
Het |
| Usp9y |
G |
A |
Y: 1,364,714 (GRCm39) |
T1033I |
probably benign |
Het |
| V1ra8 |
C |
T |
6: 90,180,186 (GRCm39) |
H130Y |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,451,271 (GRCm39) |
M386L |
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 |
|
|
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 |
|
|
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 |
|
|
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'- TTTGGGATCCTCAGGCACAC -3'
(R):5'- GGCATAGACTAGTCCAGTGTG -3'
Sequencing Primer
(F):5'- CACACACAGACTTATATCTAGGGGG -3'
(R):5'- CATAGACTAGTCCAGTGTGGGGTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation