Incidental Mutation 'R8706:Mrps27'
| ID |
669284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps27
|
| Ensembl Gene |
ENSMUSG00000041632 |
| Gene Name |
mitochondrial ribosomal protein S27 |
| Synonyms |
2610028H14Rik |
| MMRRC Submission |
068560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R8706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
99481294-99552070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99541508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 163
(V163A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052249]
[ENSMUST00000224660]
|
| AlphaFold |
Q8BK72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052249
AA Change: V163A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062326
Gene: ENSMUSG00000041632
AA Change: V163A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-S27
|
1 |
413 |
8.3e-156 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224660
AA Change: V204A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.5270 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
C |
T |
9: 59,222,456 (GRCm39) |
T461I |
probably benign |
Het |
| Adra2b |
A |
G |
2: 127,206,487 (GRCm39) |
T335A |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
| C1rl |
T |
C |
6: 124,470,191 (GRCm39) |
|
probably null |
Het |
| Ccdc142 |
A |
G |
6: 83,080,678 (GRCm39) |
E470G |
probably damaging |
Het |
| Ccm2 |
T |
A |
11: 6,539,447 (GRCm39) |
I163N |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,562 (GRCm39) |
F1596L |
probably benign |
Het |
| Chrna4 |
A |
T |
2: 180,679,307 (GRCm39) |
F47I |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,876 (GRCm39) |
T294A |
probably benign |
Het |
| Dcun1d4 |
C |
T |
5: 73,714,658 (GRCm39) |
T275M |
probably damaging |
Het |
| Dpp4 |
T |
C |
2: 62,208,647 (GRCm39) |
I166V |
probably benign |
Het |
| Dynap |
C |
T |
18: 70,374,062 (GRCm39) |
E155K |
unknown |
Het |
| Fam171b |
A |
G |
2: 83,690,864 (GRCm39) |
T276A |
probably benign |
Het |
| Fmo4 |
G |
A |
1: 162,621,592 (GRCm39) |
Q540* |
probably null |
Het |
| Gtf2i |
C |
A |
5: 134,278,733 (GRCm39) |
V633F |
probably damaging |
Het |
| Kmt5c |
G |
T |
7: 4,749,153 (GRCm39) |
R262L |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,453,669 (GRCm39) |
|
probably null |
Het |
| Myo15a |
A |
G |
11: 60,370,443 (GRCm39) |
T1068A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,145,010 (GRCm39) |
E369G |
unknown |
Het |
| Neb |
T |
A |
2: 52,181,326 (GRCm39) |
M1094L |
probably benign |
Het |
| Osbpl10 |
T |
C |
9: 115,036,688 (GRCm39) |
L228P |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,787,765 (GRCm39) |
R799S |
possibly damaging |
Het |
| Prkn |
T |
C |
17: 11,456,472 (GRCm39) |
S99P |
probably benign |
Het |
| Rassf5 |
G |
T |
1: 131,172,782 (GRCm39) |
T29N |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,776 (GRCm39) |
K370E |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,644,404 (GRCm39) |
S147C |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,569,134 (GRCm39) |
T27253I |
probably damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,715 (GRCm39) |
V15E |
possibly damaging |
Het |
| Wnt6 |
A |
C |
1: 74,821,947 (GRCm39) |
D176A |
possibly damaging |
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 |
|
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 |
|
|
Z1177:Mrps27
|
UTSW |
13 |
99,551,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAATGGCTTGACAAGGACC -3'
(R):5'- GGTTCAGAGAGCAAGGTTCC -3'
Sequencing Primer
(F):5'- CTTGACAAGGACCTGCTTCGTAG -3'
(R):5'- GGCCCTCGTCGTCTTAACTGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation