Incidental Mutation 'IGL01292:Mtrf1l'
| ID |
72952 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtrf1l
|
| Ensembl Gene |
ENSMUSG00000019774 |
| Gene Name |
mitochondrial translational release factor 1-like |
| Synonyms |
9130004K12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
5761887-5773910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5764090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 291
(M291K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019908]
|
| AlphaFold |
Q8BJU9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019908
AA Change: M291K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000019908
Gene: ENSMUSG00000019774
AA Change: M291K
| Domain | Start | End | E-Value | Type |
|---|
|
PCRF
|
75 |
189 |
2.26e-36 |
SMART |
|
Pfam:RF-1
|
221 |
331 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145718
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,831 (GRCm39) |
S1045G |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,926,520 (GRCm39) |
|
probably benign |
Het |
| Car15 |
A |
G |
16: 17,653,393 (GRCm39) |
F258S |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,737,071 (GRCm39) |
I241T |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,410,098 (GRCm39) |
D1758G |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,353,082 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
A |
6: 97,120,988 (GRCm39) |
N75I |
possibly damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,481,919 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
T |
C |
7: 97,664,161 (GRCm39) |
|
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,533 (GRCm39) |
E304K |
probably benign |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,618,696 (GRCm39) |
V234A |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,141,387 (GRCm39) |
I334N |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,638,175 (GRCm39) |
A967D |
probably damaging |
Het |
| Muc19 |
A |
G |
15: 91,778,470 (GRCm39) |
|
noncoding transcript |
Het |
| Myl3 |
A |
T |
9: 110,597,045 (GRCm39) |
D135V |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,446,805 (GRCm39) |
L537M |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,232,403 (GRCm39) |
D324G |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,640,229 (GRCm39) |
|
probably benign |
Het |
| Prkab1 |
A |
T |
5: 116,162,169 (GRCm39) |
F47Y |
probably damaging |
Het |
| Prkag2 |
C |
T |
5: 25,226,963 (GRCm39) |
S98N |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,057,344 (GRCm39) |
V15D |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,051 (GRCm39) |
C67* |
probably null |
Het |
| Slc25a15 |
T |
C |
8: 22,880,052 (GRCm39) |
D31G |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,532,752 (GRCm39) |
|
probably null |
Het |
| Snx15 |
A |
T |
19: 6,169,915 (GRCm39) |
M331K |
probably benign |
Het |
| Tsks |
T |
C |
7: 44,601,982 (GRCm39) |
Y224H |
probably damaging |
Het |
| Ufd1 |
T |
C |
16: 18,639,864 (GRCm39) |
S123P |
probably damaging |
Het |
| Xpnpep3 |
T |
G |
15: 81,311,699 (GRCm39) |
V135G |
probably damaging |
Het |
|
| Other mutations in Mtrf1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01018:Mtrf1l
|
APN |
10 |
5,764,180 (GRCm39) |
splice site |
probably benign |
|
|
IGL01844:Mtrf1l
|
APN |
10 |
5,764,112 (GRCm39) |
missense |
probably null |
0.76 |
|
R0050:Mtrf1l
|
UTSW |
10 |
5,765,553 (GRCm39) |
splice site |
silent |
|
|
R0051:Mtrf1l
|
UTSW |
10 |
5,763,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Mtrf1l
|
UTSW |
10 |
5,763,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0866:Mtrf1l
|
UTSW |
10 |
5,763,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1636:Mtrf1l
|
UTSW |
10 |
5,763,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2897:Mtrf1l
|
UTSW |
10 |
5,767,565 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4020:Mtrf1l
|
UTSW |
10 |
5,767,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4618:Mtrf1l
|
UTSW |
10 |
5,767,586 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4843:Mtrf1l
|
UTSW |
10 |
5,773,696 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6034:Mtrf1l
|
UTSW |
10 |
5,773,834 (GRCm39) |
unclassified |
probably benign |
|
|
R6034:Mtrf1l
|
UTSW |
10 |
5,773,834 (GRCm39) |
unclassified |
probably benign |
|
|
R6261:Mtrf1l
|
UTSW |
10 |
5,765,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6345:Mtrf1l
|
UTSW |
10 |
5,767,468 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6991:Mtrf1l
|
UTSW |
10 |
5,763,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7669:Mtrf1l
|
UTSW |
10 |
5,765,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation