Incidental Mutation 'IGL01604:Mrps28'
| ID |
92672 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrps28
|
| Ensembl Gene |
ENSMUSG00000040269 |
| Gene Name |
mitochondrial ribosomal protein S28 |
| Synonyms |
1500012D08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.427)
|
| Stock # |
IGL01604
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
8867206-8988917 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8965130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 103
(I103T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042148]
|
| AlphaFold |
Q9CY16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042148
AA Change: I103T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038305
Gene: ENSMUSG00000040269
AA Change: I103T
| Domain | Start | End | E-Value | Type |
|---|
|
S1
|
94 |
158 |
1.69e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,168,462 (GRCm39) |
I1416L |
possibly damaging |
Het |
| Abcc4 |
A |
T |
14: 118,765,406 (GRCm39) |
M992K |
possibly damaging |
Het |
| Adnp |
A |
G |
2: 168,026,258 (GRCm39) |
S346P |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,015,837 (GRCm39) |
|
probably benign |
Het |
| Cblif |
A |
G |
19: 11,735,126 (GRCm39) |
T249A |
probably benign |
Het |
| Ccl12 |
A |
G |
11: 81,994,059 (GRCm39) |
*105W |
probably null |
Het |
| Chd1 |
A |
G |
17: 15,990,359 (GRCm39) |
D1637G |
possibly damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,436,038 (GRCm39) |
|
probably null |
Het |
| Cul4a |
T |
C |
8: 13,183,843 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
T |
A |
16: 31,675,256 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
A |
G |
2: 83,709,944 (GRCm39) |
T539A |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,854,749 (GRCm39) |
N1792D |
probably benign |
Het |
| Gm9696 |
A |
C |
3: 59,879,723 (GRCm39) |
|
noncoding transcript |
Het |
| Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,900,482 (GRCm39) |
F728I |
probably damaging |
Het |
| Megf9 |
C |
A |
4: 70,367,028 (GRCm39) |
C318F |
probably null |
Het |
| Mpi |
G |
A |
9: 57,458,025 (GRCm39) |
A59V |
possibly damaging |
Het |
| Msantd2 |
G |
A |
9: 37,434,144 (GRCm39) |
R329H |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,474,327 (GRCm39) |
L1681F |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,332,535 (GRCm39) |
|
probably benign |
Het |
| Or4k52 |
A |
G |
2: 111,610,935 (GRCm39) |
K90R |
possibly damaging |
Het |
| Or5b119 |
G |
A |
19: 13,456,612 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
G |
A |
11: 54,585,389 (GRCm39) |
E1596K |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,454 (GRCm39) |
E270G |
probably benign |
Het |
| Skor2 |
C |
A |
18: 76,947,646 (GRCm39) |
A456E |
possibly damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,294,221 (GRCm39) |
I220T |
possibly damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,291,362 (GRCm39) |
M361K |
probably damaging |
Het |
| Tars2 |
G |
A |
3: 95,647,590 (GRCm39) |
R608C |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,593,746 (GRCm39) |
|
probably null |
Het |
| Tex14 |
A |
G |
11: 87,400,524 (GRCm39) |
I439V |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,899,031 (GRCm39) |
I690F |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,418,244 (GRCm39) |
I1684V |
possibly damaging |
Het |
| Xdh |
T |
C |
17: 74,216,332 (GRCm39) |
I705V |
probably benign |
Het |
|
| Other mutations in Mrps28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01895:Mrps28
|
APN |
3 |
8,965,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1423:Mrps28
|
UTSW |
3 |
8,965,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1462:Mrps28
|
UTSW |
3 |
8,965,184 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1462:Mrps28
|
UTSW |
3 |
8,965,184 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3034:Mrps28
|
UTSW |
3 |
8,988,675 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4917:Mrps28
|
UTSW |
3 |
8,947,614 (GRCm39) |
intron |
probably benign |
|
|
R4918:Mrps28
|
UTSW |
3 |
8,947,614 (GRCm39) |
intron |
probably benign |
|
|
R5119:Mrps28
|
UTSW |
3 |
8,988,756 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6012:Mrps28
|
UTSW |
3 |
8,965,044 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6029:Mrps28
|
UTSW |
3 |
8,988,805 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6229:Mrps28
|
UTSW |
3 |
8,965,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Mrps28
|
UTSW |
3 |
8,965,040 (GRCm39) |
splice site |
probably null |
|
|
R7845:Mrps28
|
UTSW |
3 |
8,988,775 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9075:Mrps28
|
UTSW |
3 |
8,867,312 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9079:Mrps28
|
UTSW |
3 |
8,867,308 (GRCm39) |
makesense |
probably null |
|
|
R9645:Mrps28
|
UTSW |
3 |
8,867,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mrps28
|
UTSW |
3 |
8,988,806 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-12-09 |
Incidental Mutation