Incidental Mutation 'IGL01356:Mtrf1'
| ID |
75542 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtrf1
|
| Ensembl Gene |
ENSMUSG00000022022 |
| Gene Name |
mitochondrial translational release factor 1 |
| Synonyms |
A830062K05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL01356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
79635212-79661027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79660865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 419
(D419G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022600]
[ENSMUST00000061222]
|
| AlphaFold |
Q8K126 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022600
AA Change: D419G
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: D419G
| 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 |
probably benign
Transcript: ENSMUST00000061222
|
| SMART Domains |
Protein: ENSMUSP00000060768
Gene: ENSMUSG00000043881
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BTB
|
11 |
44 |
2e-11 |
BLAST |
|
BTB
|
63 |
168 |
1.05e-23 |
SMART |
|
BACK
|
173 |
279 |
1.41e-19 |
SMART |
|
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
|
Pfam:Kelch_1
|
434 |
481 |
1.7e-9 |
PFAM |
|
low complexity region
|
657 |
676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227610
|
| 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 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 |
|---|
| AA474408 |
T |
C |
7: 109,660,189 (GRCm39) |
|
probably benign |
Het |
| Acsl1 |
T |
C |
8: 46,964,500 (GRCm39) |
|
probably null |
Het |
| Adck2 |
T |
C |
6: 39,560,854 (GRCm39) |
V463A |
probably benign |
Het |
| Armh3 |
C |
T |
19: 45,954,742 (GRCm39) |
C149Y |
possibly damaging |
Het |
| B4galt4 |
T |
A |
16: 38,574,506 (GRCm39) |
I224N |
probably damaging |
Het |
| Caprin1 |
T |
C |
2: 103,605,801 (GRCm39) |
T396A |
probably benign |
Het |
| Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,970,127 (GRCm39) |
K960I |
probably damaging |
Het |
| Cldn4 |
A |
G |
5: 134,975,343 (GRCm39) |
I86T |
probably benign |
Het |
| Cst12 |
A |
C |
2: 148,631,468 (GRCm39) |
D50A |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,501,459 (GRCm39) |
Y1864H |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,658,155 (GRCm39) |
G1642E |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,619,341 (GRCm39) |
L241P |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,281,202 (GRCm39) |
R669H |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,601,876 (GRCm39) |
P455S |
probably damaging |
Het |
| Lrig1 |
A |
G |
6: 94,631,901 (GRCm39) |
Y100H |
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,586,874 (GRCm39) |
P601S |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,877,584 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,722 (GRCm39) |
L1094P |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,127,064 (GRCm39) |
N770K |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,800,000 (GRCm39) |
H987R |
possibly damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,324 (GRCm39) |
C111S |
probably damaging |
Het |
| Or5p63 |
T |
A |
7: 107,810,933 (GRCm39) |
I268F |
probably benign |
Het |
| Or7g26 |
T |
A |
9: 19,230,238 (GRCm39) |
M142K |
probably damaging |
Het |
| Pate13 |
T |
A |
9: 35,820,244 (GRCm39) |
C33* |
probably null |
Het |
| Plcg1 |
G |
T |
2: 160,595,813 (GRCm39) |
G561W |
probably damaging |
Het |
| Ripor3 |
T |
A |
2: 167,835,495 (GRCm39) |
M159L |
probably benign |
Het |
| Serpinb6a |
A |
G |
13: 34,109,400 (GRCm39) |
S111P |
possibly damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,945,784 (GRCm39) |
H537Q |
probably benign |
Het |
| Tefm |
G |
A |
11: 80,028,823 (GRCm39) |
R43* |
probably null |
Het |
| Tiam1 |
A |
G |
16: 89,634,676 (GRCm39) |
V878A |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,947 (GRCm39) |
S243G |
probably damaging |
Het |
| Vmn2r124 |
G |
T |
17: 18,293,733 (GRCm39) |
V607L |
probably benign |
Het |
| Vps8 |
T |
G |
16: 21,336,107 (GRCm39) |
|
probably null |
Het |
| Ythdf2 |
A |
T |
4: 131,932,661 (GRCm39) |
D166E |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,434,694 (GRCm39) |
V2203A |
unknown |
Het |
|
| Other mutations in Mtrf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6530:Mtrf1
|
UTSW |
14 |
79,640,331 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation