Incidental Mutation 'IGL01666:Mrps27'
| ID |
103318 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrps27
|
| Ensembl Gene |
ENSMUSG00000041632 |
| Gene Name |
mitochondrial ribosomal protein S27 |
| Synonyms |
2610028H14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
IGL01666
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
99481294-99552070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99546324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 241
(E241G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052249]
[ENSMUST00000224660]
|
| AlphaFold |
Q8BK72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052249
AA Change: E200G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062326
Gene: ENSMUSG00000041632
AA Change: E200G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-S27
|
1 |
413 |
8.3e-156 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180808
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224660
AA Change: E241G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225937
|
| 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 may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,499,832 (GRCm39) |
A664S |
probably damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,827,954 (GRCm39) |
L297F |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,126,458 (GRCm39) |
S513C |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,050,447 (GRCm39) |
V645M |
possibly damaging |
Het |
| Csn3 |
T |
C |
5: 88,078,016 (GRCm39) |
V174A |
unknown |
Het |
| D630039A03Rik |
C |
T |
4: 57,910,570 (GRCm39) |
V81I |
possibly damaging |
Het |
| Deptor |
G |
A |
15: 55,012,775 (GRCm39) |
R54Q |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,038,463 (GRCm39) |
H400R |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,852,717 (GRCm39) |
V1335M |
probably damaging |
Het |
| Itga2 |
A |
G |
13: 114,973,627 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
A |
G |
17: 27,336,152 (GRCm39) |
I2293V |
probably benign |
Het |
| Matcap2 |
A |
G |
9: 22,342,994 (GRCm39) |
D163G |
probably benign |
Het |
| Mmut |
T |
C |
17: 41,269,702 (GRCm39) |
L687P |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,646,131 (GRCm39) |
A1951T |
probably benign |
Het |
| Oca2 |
G |
A |
7: 55,964,559 (GRCm39) |
|
probably null |
Het |
| Or2n1c |
C |
T |
17: 38,519,780 (GRCm39) |
L215F |
probably benign |
Het |
| Or6d15 |
T |
A |
6: 116,559,296 (GRCm39) |
I204F |
possibly damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,274 (GRCm39) |
F264L |
probably benign |
Het |
| Ptpn23 |
T |
C |
9: 110,215,613 (GRCm39) |
T1384A |
possibly damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,174,718 (GRCm39) |
D170E |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,654,486 (GRCm39) |
Q848* |
probably null |
Het |
|
| Other mutations in Mrps27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01685:Mrps27
|
APN |
13 |
99,551,428 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
P0043:Mrps27
|
UTSW |
13 |
99,548,754 (GRCm39) |
missense |
probably benign |
|
|
R0122:Mrps27
|
UTSW |
13 |
99,501,736 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0502:Mrps27
|
UTSW |
13 |
99,546,303 (GRCm39) |
splice site |
probably benign |
|
|
R0503:Mrps27
|
UTSW |
13 |
99,546,303 (GRCm39) |
splice site |
probably benign |
|
|
R0611:Mrps27
|
UTSW |
13 |
99,541,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Mrps27
|
UTSW |
13 |
99,541,558 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2566:Mrps27
|
UTSW |
13 |
99,536,836 (GRCm39) |
nonsense |
probably null |
|
|
R4227:Mrps27
|
UTSW |
13 |
99,547,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Mrps27
|
UTSW |
13 |
99,541,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Mrps27
|
UTSW |
13 |
99,551,323 (GRCm39) |
splice site |
probably null |
|
|
R4761:Mrps27
|
UTSW |
13 |
99,548,739 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5114:Mrps27
|
UTSW |
13 |
99,547,973 (GRCm39) |
unclassified |
probably benign |
|
|
R5294:Mrps27
|
UTSW |
13 |
99,546,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6241:Mrps27
|
UTSW |
13 |
99,548,754 (GRCm39) |
missense |
probably benign |
|
|
R6387:Mrps27
|
UTSW |
13 |
99,536,825 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6491:Mrps27
|
UTSW |
13 |
99,499,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Mrps27
|
UTSW |
13 |
99,541,522 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7165:Mrps27
|
UTSW |
13 |
99,551,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7241:Mrps27
|
UTSW |
13 |
99,547,788 (GRCm39) |
nonsense |
probably null |
|
|
R7709:Mrps27
|
UTSW |
13 |
99,541,504 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7720:Mrps27
|
UTSW |
13 |
99,537,838 (GRCm39) |
missense |
unknown |
|
|
R8706:Mrps27
|
UTSW |
13 |
99,541,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mrps27
|
UTSW |
13 |
99,551,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Posted On |
2014-01-21 |
Incidental Mutation