Incidental Mutation 'P0043:Mrps27'
ID |
7683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrps27
|
Ensembl Gene |
ENSMUSG00000041632 |
Gene Name |
mitochondrial ribosomal protein S27 |
Synonyms |
2610028H14Rik |
MMRRC Submission |
038291-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
P0043 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
99481294-99552070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99548754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 297
(T297A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052249]
[ENSMUST00000224660]
|
AlphaFold |
Q8BK72 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052249
AA Change: T297A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000062326 Gene: ENSMUSG00000041632 AA Change: T297A
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 benign
Transcript: ENSMUST00000224660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225937
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 81.5%
- 3x: 74.1%
- 10x: 50.1%
- 20x: 26.7%
|
Validation Efficiency |
74% (145/195) |
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: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Chn1 |
A |
T |
2: 73,454,509 (GRCm39) |
V247E |
probably damaging |
Het |
Col28a1 |
T |
A |
6: 8,168,152 (GRCm39) |
|
probably benign |
Het |
Cxcl5 |
A |
G |
5: 90,907,826 (GRCm39) |
I85M |
probably damaging |
Het |
Fnip1 |
A |
G |
11: 54,394,051 (GRCm39) |
E829G |
probably benign |
Het |
Kctd18 |
G |
A |
1: 58,006,722 (GRCm39) |
R43C |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,058,155 (GRCm39) |
F629I |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,328,620 (GRCm39) |
S195P |
probably damaging |
Het |
Lrrc74b |
A |
T |
16: 17,376,023 (GRCm39) |
|
probably benign |
Het |
Mrpl30 |
A |
G |
1: 37,937,259 (GRCm39) |
T133A |
probably benign |
Het |
Per1 |
G |
T |
11: 68,992,869 (GRCm39) |
|
probably benign |
Het |
Ptprq |
C |
A |
10: 107,416,086 (GRCm39) |
M1737I |
probably benign |
Het |
Ropn1l |
A |
C |
15: 31,457,447 (GRCm39) |
|
probably benign |
Het |
Sfrp4 |
A |
G |
13: 19,807,765 (GRCm39) |
I55V |
probably benign |
Het |
Spata31 |
G |
A |
13: 65,068,820 (GRCm39) |
|
probably null |
Het |
Trpm6 |
T |
A |
19: 18,855,129 (GRCm39) |
D1929E |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,628,358 (GRCm39) |
S12855P |
probably damaging |
Het |
Zscan10 |
C |
T |
17: 23,828,594 (GRCm39) |
R302* |
probably null |
Het |
|
Other mutations in Mrps27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01666:Mrps27
|
APN |
13 |
99,546,324 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01685:Mrps27
|
APN |
13 |
99,551,428 (GRCm39) |
missense |
possibly damaging |
0.52 |
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 |
2012-10-29 |