Incidental Mutation 'R8332:Rrn3'
| ID |
644449 |
| 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 |
067728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
13598572-13632703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13616484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 287
(D287E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023363]
|
| AlphaFold |
B2RS91 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023363
AA Change: D287E
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: D287E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,815,436 (GRCm39) |
D228G |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,791,282 (GRCm39) |
D841G |
possibly damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,561 (GRCm39) |
V796I |
probably benign |
Het |
| Angptl8 |
A |
T |
9: 21,748,137 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
A |
T |
11: 97,381,960 (GRCm39) |
S61T |
unknown |
Het |
| Bcl9 |
C |
T |
3: 97,117,086 (GRCm39) |
G536D |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,823,594 (GRCm39) |
D220G |
probably benign |
Het |
| Ccl28 |
C |
A |
13: 120,107,514 (GRCm39) |
C58* |
probably null |
Het |
| Ccr8 |
A |
T |
9: 119,923,440 (GRCm39) |
Y185F |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,087 (GRCm39) |
H408Q |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,016,037 (GRCm39) |
E351G |
probably damaging |
Het |
| Cog5 |
A |
T |
12: 31,883,222 (GRCm39) |
K384* |
probably null |
Het |
| Cpne1 |
T |
C |
2: 155,920,317 (GRCm39) |
T187A |
probably benign |
Het |
| Crat |
T |
A |
2: 30,295,084 (GRCm39) |
I444F |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,152 (GRCm39) |
M1052L |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,377 (GRCm39) |
K104E |
probably damaging |
Het |
| Erp44 |
A |
G |
4: 48,243,475 (GRCm39) |
|
probably null |
Het |
| Flad1 |
G |
T |
3: 89,314,828 (GRCm39) |
Q290K |
probably benign |
Het |
| Gata3os |
G |
A |
2: 9,887,650 (GRCm39) |
R17H |
unknown |
Het |
| Gli3 |
G |
T |
13: 15,888,133 (GRCm39) |
R516L |
possibly damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,048 (GRCm39) |
C182S |
unknown |
Het |
| Herc2 |
T |
C |
7: 55,796,343 (GRCm39) |
I1905T |
probably damaging |
Het |
| Ikbkb |
A |
T |
8: 23,155,641 (GRCm39) |
V617D |
possibly damaging |
Het |
| Intu |
A |
G |
3: 40,629,719 (GRCm39) |
I350V |
probably benign |
Het |
| Limd1 |
A |
G |
9: 123,308,319 (GRCm39) |
D6G |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,601,210 (GRCm39) |
D716G |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,407,805 (GRCm39) |
T1828I |
probably damaging |
Het |
| Or2at1 |
T |
C |
7: 99,417,334 (GRCm39) |
*322Q |
probably null |
Het |
| Or6c38 |
A |
G |
10: 128,929,174 (GRCm39) |
I223T |
possibly damaging |
Het |
| Piezo2 |
A |
T |
18: 63,145,857 (GRCm39) |
I2689N |
possibly damaging |
Het |
| Prag1 |
T |
C |
8: 36,613,457 (GRCm39) |
I1003T |
probably damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,805,967 (GRCm39) |
D170G |
unknown |
Het |
| Rnf213 |
A |
C |
11: 119,374,524 (GRCm39) |
Q5027P |
|
Het |
| Robo1 |
T |
C |
16: 72,775,466 (GRCm39) |
Y664H |
probably damaging |
Het |
| Slc22a16 |
G |
A |
10: 40,449,741 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,327,680 (GRCm39) |
T706S |
probably benign |
Het |
| Srek1ip1 |
A |
T |
13: 104,970,757 (GRCm39) |
R69S |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,119,165 (GRCm39) |
C119* |
probably null |
Het |
| T2 |
A |
G |
17: 8,609,784 (GRCm39) |
M78V |
probably null |
Het |
| Taok1 |
A |
T |
11: 77,432,545 (GRCm39) |
V756D |
possibly damaging |
Het |
| Tecta |
C |
T |
9: 42,286,310 (GRCm39) |
G782D |
probably damaging |
Het |
| Thbs2 |
G |
A |
17: 14,900,032 (GRCm39) |
P615L |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,830,721 (GRCm39) |
I217F |
possibly damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,049,677 (GRCm39) |
V691M |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,492,122 (GRCm39) |
Y267C |
probably damaging |
Het |
| Zfp59 |
A |
G |
7: 27,552,971 (GRCm39) |
D141G |
probably benign |
Het |
| Zfp760 |
A |
G |
17: 21,942,301 (GRCm39) |
E492G |
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 |
|
|
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 |
|
|
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'- CACGTGTTTGCTTTACATGAGG -3'
(R):5'- GACCCTTTGTATCATCCTCAGG -3'
Sequencing Primer
(F):5'- TTTGCTTTACATGAGGATTCAGTC -3'
(R):5'- TCAATGTAGGACAGCAGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation