Incidental Mutation 'R6530:Mtrf1'
| ID |
522291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtrf1
|
| Ensembl Gene |
ENSMUSG00000022022 |
| Gene Name |
mitochondrial translational release factor 1 |
| Synonyms |
A830062K05Rik |
| MMRRC Submission |
044656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R6530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
79635212-79661027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79640331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 162
(Q162L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022600]
|
| AlphaFold |
Q8K126 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022600
AA Change: Q162L
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: Q162L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
133 |
N/A |
INTRINSIC |
|
PCRF
|
139 |
255 |
5.96e-27 |
SMART |
|
Pfam:RF-1
|
290 |
400 |
2.6e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227610
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,746,039 (GRCm39) |
L74P |
possibly damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,364 (GRCm39) |
T575A |
probably benign |
Het |
| Adck5 |
T |
G |
15: 76,478,047 (GRCm39) |
D224E |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,448,979 (GRCm39) |
N376S |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,499,499 (GRCm39) |
D254E |
probably benign |
Het |
| Cacnb2 |
G |
T |
2: 14,979,978 (GRCm39) |
A274S |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,961,791 (GRCm39) |
V159A |
probably benign |
Het |
| Ccdc138 |
G |
C |
10: 58,380,790 (GRCm39) |
G474R |
probably damaging |
Het |
| Coq7 |
T |
C |
7: 118,124,558 (GRCm39) |
T203A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,456,865 (GRCm39) |
I877T |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,542,856 (GRCm39) |
R2438H |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,031,366 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
A |
2: 125,231,190 (GRCm39) |
R459C |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,889,785 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
G |
A |
7: 39,057,514 (GRCm39) |
P702S |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,265,802 (GRCm39) |
Y182* |
probably null |
Het |
| Irf6 |
C |
T |
1: 192,839,657 (GRCm39) |
T44M |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,499,847 (GRCm39) |
N87S |
probably benign |
Het |
| Myoz3 |
G |
T |
18: 60,712,592 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nkd2 |
C |
T |
13: 73,970,809 (GRCm39) |
G258R |
probably null |
Het |
| Or8k27 |
A |
C |
2: 86,275,826 (GRCm39) |
S167A |
probably benign |
Het |
| Parg |
T |
C |
14: 31,931,156 (GRCm39) |
S176P |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,860,617 (GRCm39) |
V891G |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,367 (GRCm39) |
I21N |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,132,148 (GRCm39) |
V20A |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,070,011 (GRCm39) |
S1462R |
probably benign |
Het |
| Spmip1 |
G |
A |
6: 29,471,950 (GRCm39) |
|
probably null |
Het |
| Sult1e1 |
T |
C |
5: 87,724,147 (GRCm39) |
E270G |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,654,631 (GRCm39) |
F1436V |
probably damaging |
Het |
| Ttc33 |
A |
G |
15: 5,241,603 (GRCm39) |
|
probably null |
Het |
| Ucp2 |
A |
T |
7: 100,147,430 (GRCm39) |
E161D |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,252 (GRCm39) |
F217S |
possibly damaging |
Het |
| Wdr93 |
G |
A |
7: 79,405,741 (GRCm39) |
A207T |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,586,939 (GRCm39) |
S133P |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,449,340 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mtrf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:Mtrf1
|
APN |
14 |
79,660,865 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01478:Mtrf1
|
APN |
14 |
79,640,360 (GRCm39) |
splice site |
probably benign |
|
|
IGL01866:Mtrf1
|
APN |
14 |
79,638,948 (GRCm39) |
missense |
probably benign |
|
|
IGL02290:Mtrf1
|
APN |
14 |
79,639,251 (GRCm39) |
nonsense |
probably null |
|
|
IGL02929:Mtrf1
|
APN |
14 |
79,640,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03342:Mtrf1
|
APN |
14 |
79,653,312 (GRCm39) |
splice site |
probably null |
|
|
IGL03342:Mtrf1
|
APN |
14 |
79,653,311 (GRCm39) |
splice site |
probably benign |
|
|
IGL03342:Mtrf1
|
APN |
14 |
79,653,420 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0212:Mtrf1
|
UTSW |
14 |
79,656,719 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0560:Mtrf1
|
UTSW |
14 |
79,644,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0604:Mtrf1
|
UTSW |
14 |
79,653,327 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0669:Mtrf1
|
UTSW |
14 |
79,656,708 (GRCm39) |
nonsense |
probably null |
|
|
R0981:Mtrf1
|
UTSW |
14 |
79,639,030 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1837:Mtrf1
|
UTSW |
14 |
79,639,273 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1969:Mtrf1
|
UTSW |
14 |
79,639,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Mtrf1
|
UTSW |
14 |
79,656,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Mtrf1
|
UTSW |
14 |
79,650,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Mtrf1
|
UTSW |
14 |
79,649,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Mtrf1
|
UTSW |
14 |
79,639,128 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4965:Mtrf1
|
UTSW |
14 |
79,644,027 (GRCm39) |
missense |
probably benign |
|
|
R5616:Mtrf1
|
UTSW |
14 |
79,638,885 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6776:Mtrf1
|
UTSW |
14 |
79,650,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Mtrf1
|
UTSW |
14 |
79,660,931 (GRCm39) |
frame shift |
probably null |
|
|
R7182:Mtrf1
|
UTSW |
14 |
79,660,904 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7254:Mtrf1
|
UTSW |
14 |
79,660,931 (GRCm39) |
frame shift |
probably null |
|
|
R7871:Mtrf1
|
UTSW |
14 |
79,644,378 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8249:Mtrf1
|
UTSW |
14 |
79,638,919 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9593:Mtrf1
|
UTSW |
14 |
79,656,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTTGTTCTGCATACAGGAA -3'
(R):5'- TTATCCTTCAACAAAGTGTACTAAGG -3'
Sequencing Primer
(F):5'- TCTAAAATACACTGGCCTGGTGG -3'
(R):5'- CTTCAACAAAGTGTACTAAGGATAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation