Incidental Mutation 'R9315:Rrn3'
| ID |
705859 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
13598572-13632703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13606690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 99
(Y99H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023363]
|
| AlphaFold |
B2RS91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023363
AA Change: Y99H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: Y99H
| 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: 98.9%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,265,576 (GRCm39) |
R153H |
possibly damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,398,360 (GRCm39) |
S1730L |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,287 (GRCm39) |
E509G |
probably damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,213,670 (GRCm39) |
A30S |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,263,214 (GRCm39) |
S109P |
probably damaging |
Het |
| Coa7 |
T |
A |
4: 108,195,581 (GRCm39) |
L170Q |
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,540,544 (GRCm39) |
I1334N |
unknown |
Het |
| Col6a3 |
A |
G |
1: 90,738,979 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
A |
G |
4: 96,420,035 (GRCm39) |
I232T |
probably benign |
Het |
| Ddx52 |
T |
A |
11: 83,837,033 (GRCm39) |
S175T |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,143,341 (GRCm39) |
S434F |
probably benign |
Het |
| Epn1 |
T |
C |
7: 5,096,339 (GRCm39) |
V211A |
probably benign |
Het |
| Fads2b |
C |
A |
2: 85,319,188 (GRCm39) |
K371N |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,285,548 (GRCm39) |
N429S |
probably benign |
Het |
| Ifng |
A |
T |
10: 118,278,588 (GRCm39) |
D83V |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,156,840 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,364,366 (GRCm39) |
R1102W |
possibly damaging |
Het |
| Ldlr |
T |
A |
9: 21,644,782 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,760,911 (GRCm39) |
V4992A |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,248,969 (GRCm39) |
C168* |
probably null |
Het |
| Msantd5f3 |
A |
T |
4: 73,575,280 (GRCm39) |
R320* |
probably null |
Het |
| Mug1 |
T |
A |
6: 121,850,730 (GRCm39) |
V742D |
possibly damaging |
Het |
| Mxd1 |
T |
C |
6: 86,627,926 (GRCm39) |
D204G |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,801,811 (GRCm39) |
A1322D |
possibly damaging |
Het |
| Nepn |
T |
A |
10: 52,267,869 (GRCm39) |
I45N |
probably benign |
Het |
| Or13a22 |
T |
C |
7: 140,072,935 (GRCm39) |
I128T |
probably damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,495 (GRCm39) |
C167* |
probably null |
Het |
| Or4d5 |
T |
C |
9: 40,012,270 (GRCm39) |
D172G |
probably benign |
Het |
| Paip1 |
A |
G |
13: 119,586,516 (GRCm39) |
E271G |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,119 (GRCm39) |
N444S |
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,488,921 (GRCm39) |
T705A |
possibly damaging |
Het |
| Pik3r1 |
A |
G |
13: 101,894,166 (GRCm39) |
M1T |
probably null |
Het |
| Rab33b |
T |
G |
3: 51,401,000 (GRCm39) |
V158G |
probably damaging |
Het |
| Rab6a |
A |
G |
7: 100,281,017 (GRCm39) |
I120V |
probably benign |
Het |
| Radil |
G |
T |
5: 142,474,254 (GRCm39) |
H731N |
probably damaging |
Het |
| Rbm4b |
T |
C |
19: 4,812,028 (GRCm39) |
S146P |
probably damaging |
Het |
| Saxo4 |
T |
A |
19: 10,458,767 (GRCm39) |
S88C |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,283,553 (GRCm39) |
T1504K |
possibly damaging |
Het |
| Tas1r2 |
A |
G |
4: 139,381,046 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Tmprss3 |
T |
C |
17: 31,403,644 (GRCm39) |
I386V |
probably null |
Het |
| Tns1 |
A |
G |
1: 73,980,141 (GRCm39) |
C11R |
|
Het |
| Wdr11 |
A |
G |
7: 129,208,264 (GRCm39) |
T340A |
probably benign |
Het |
| Zbtb49 |
A |
G |
5: 38,358,082 (GRCm39) |
S724P |
probably benign |
Het |
| Zfp446 |
A |
G |
7: 12,713,397 (GRCm39) |
K221R |
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 |
|
|
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 |
|
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'- GGACTTGCAGCCTCTGTTTC -3'
(R):5'- CTAAGGAAGACAGTCTGTGCAG -3'
Sequencing Primer
(F):5'- ACCACAGGAGTGCACACTGTG -3'
(R):5'- GTGCAGACACAAGATTACCAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation