Incidental Mutation 'IGL01968:Mrps5'
| ID |
181597 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrps5
|
| Ensembl Gene |
ENSMUSG00000027374 |
| Gene Name |
mitochondrial ribosomal protein S5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01968
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
127429346-127445906 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127433827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 72
(N72S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028852]
[ENSMUST00000110366]
[ENSMUST00000146131]
|
| AlphaFold |
Q99N87 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028852
AA Change: N80S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: N80S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
220 |
285 |
3.5e-20 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
297 |
368 |
4.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110366
|
| SMART Domains |
Protein: ENSMUSP00000105995
Gene: ENSMUSG00000034800
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
1.33e-28 |
SMART |
|
ZnF_C2H2
|
169 |
191 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
197 |
219 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
225 |
247 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
393 |
413 |
4.94e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134101
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146131
AA Change: N72S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000119674
Gene: ENSMUSG00000027374
AA Change: N72S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
118 |
N/A |
INTRINSIC |
|
| 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 belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,977,913 (GRCm39) |
D497G |
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,611,263 (GRCm39) |
R856* |
probably null |
Het |
| Cfap90 |
T |
G |
13: 68,759,363 (GRCm39) |
H112Q |
probably damaging |
Het |
| Chodl |
T |
A |
16: 78,738,557 (GRCm39) |
S138T |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,875,572 (GRCm39) |
R465* |
probably null |
Het |
| Fgfr2 |
A |
G |
7: 129,786,978 (GRCm39) |
W358R |
probably damaging |
Het |
| Iqgap2 |
G |
T |
13: 95,772,090 (GRCm39) |
A1363E |
possibly damaging |
Het |
| Malt1 |
T |
A |
18: 65,582,087 (GRCm39) |
I317K |
probably benign |
Het |
| Mst1r |
T |
A |
9: 107,794,005 (GRCm39) |
|
probably null |
Het |
| Nars1 |
A |
T |
18: 64,640,929 (GRCm39) |
C176S |
probably damaging |
Het |
| Nt5el |
T |
A |
13: 105,256,338 (GRCm39) |
M469K |
probably damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,555 (GRCm39) |
W149R |
probably damaging |
Het |
| Plxna4 |
T |
G |
6: 32,192,139 (GRCm39) |
D817A |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,930,052 (GRCm39) |
P303S |
probably benign |
Het |
| Prkd2 |
G |
T |
7: 16,603,501 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
A |
T |
1: 12,888,675 (GRCm39) |
H320L |
probably damaging |
Het |
| Use1 |
G |
A |
8: 71,819,711 (GRCm39) |
|
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,766 (GRCm39) |
D356G |
possibly damaging |
Het |
|
| Other mutations in Mrps5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03348:Mrps5
|
APN |
2 |
127,443,305 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0369:Mrps5
|
UTSW |
2 |
127,433,749 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0485:Mrps5
|
UTSW |
2 |
127,433,745 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0622:Mrps5
|
UTSW |
2 |
127,436,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1954:Mrps5
|
UTSW |
2 |
127,438,817 (GRCm39) |
splice site |
probably null |
|
|
R2182:Mrps5
|
UTSW |
2 |
127,444,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3414:Mrps5
|
UTSW |
2 |
127,438,832 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4007:Mrps5
|
UTSW |
2 |
127,433,755 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4687:Mrps5
|
UTSW |
2 |
127,432,690 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4780:Mrps5
|
UTSW |
2 |
127,440,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4835:Mrps5
|
UTSW |
2 |
127,445,627 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4851:Mrps5
|
UTSW |
2 |
127,432,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5076:Mrps5
|
UTSW |
2 |
127,442,772 (GRCm39) |
nonsense |
probably null |
|
|
R5558:Mrps5
|
UTSW |
2 |
127,444,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Mrps5
|
UTSW |
2 |
127,443,305 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7038:Mrps5
|
UTSW |
2 |
127,442,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7071:Mrps5
|
UTSW |
2 |
127,442,772 (GRCm39) |
nonsense |
probably null |
|
|
R7103:Mrps5
|
UTSW |
2 |
127,443,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7177:Mrps5
|
UTSW |
2 |
127,437,617 (GRCm39) |
missense |
probably benign |
|
|
R7319:Mrps5
|
UTSW |
2 |
127,437,762 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7387:Mrps5
|
UTSW |
2 |
127,442,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Mrps5
|
UTSW |
2 |
127,433,811 (GRCm39) |
missense |
not run |
|
|
R8211:Mrps5
|
UTSW |
2 |
127,445,644 (GRCm39) |
missense |
probably benign |
|
|
R9052:Mrps5
|
UTSW |
2 |
127,433,876 (GRCm39) |
splice site |
probably benign |
|
|
R9358:Mrps5
|
UTSW |
2 |
127,437,734 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Posted On |
2014-05-07 |
Incidental Mutation