Incidental Mutation 'IGL03348:Mrps5'
| ID |
419556 |
| 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 # |
IGL03348
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
127429346-127445906 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 127443305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 294
(H294Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028852]
|
| AlphaFold |
Q99N87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028852
AA Change: H294Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: H294Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000126491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145271
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330008L17Rik |
A |
C |
8: 100,148,324 (GRCm39) |
|
noncoding transcript |
Het |
| Actmap |
T |
G |
7: 26,896,545 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,647,177 (GRCm39) |
N3121S |
possibly damaging |
Het |
| Aldh16a1 |
C |
T |
7: 44,791,399 (GRCm39) |
R102Q |
possibly damaging |
Het |
| Atp9b |
A |
T |
18: 80,879,637 (GRCm39) |
I346K |
possibly damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,215,341 (GRCm39) |
K388R |
probably benign |
Het |
| Cfap65 |
A |
C |
1: 74,966,778 (GRCm39) |
I303S |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,600,712 (GRCm39) |
S791P |
possibly damaging |
Het |
| Ctsz |
T |
A |
2: 174,270,490 (GRCm39) |
I231F |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,965,960 (GRCm39) |
T2431A |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 102,001,466 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,809 (GRCm39) |
I67V |
possibly damaging |
Het |
| Exoc1 |
T |
A |
5: 76,683,440 (GRCm39) |
V55D |
probably damaging |
Het |
| Exosc8 |
A |
T |
3: 54,640,143 (GRCm39) |
D72E |
possibly damaging |
Het |
| F5 |
C |
T |
1: 164,021,721 (GRCm39) |
P1399S |
possibly damaging |
Het |
| Fmo1 |
T |
A |
1: 162,677,720 (GRCm39) |
N132I |
possibly damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,479 (GRCm39) |
H739L |
unknown |
Het |
| Glb1l2 |
T |
C |
9: 26,676,976 (GRCm39) |
D415G |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,673,893 (GRCm39) |
H498Q |
probably damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,787,153 (GRCm39) |
N342S |
probably benign |
Het |
| Mbnl3 |
G |
A |
X: 50,253,425 (GRCm39) |
T16I |
probably damaging |
Het |
| Neu4 |
A |
G |
1: 93,952,696 (GRCm39) |
Y355C |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,941,188 (GRCm39) |
D5105E |
probably damaging |
Het |
| Or4ac1-ps1 |
T |
C |
2: 88,370,485 (GRCm39) |
|
noncoding transcript |
Het |
| Or4f56 |
C |
A |
2: 111,703,493 (GRCm39) |
A236S |
probably damaging |
Het |
| Or4k15b |
A |
G |
14: 50,272,212 (GRCm39) |
I216T |
probably benign |
Het |
| Or5p73 |
A |
G |
7: 108,064,615 (GRCm39) |
D28G |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,405,272 (GRCm39) |
|
probably benign |
Het |
| Plac1 |
A |
T |
X: 52,159,517 (GRCm39) |
N64K |
probably damaging |
Het |
| Plcd1 |
C |
A |
9: 118,901,558 (GRCm39) |
K655N |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,826,796 (GRCm39) |
S1772P |
probably damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,815,089 (GRCm39) |
V130I |
probably benign |
Het |
| Slc25a11 |
T |
C |
11: 70,536,170 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,113,635 (GRCm39) |
G1004E |
probably damaging |
Het |
| Tars2 |
T |
C |
3: 95,647,580 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
C |
T |
19: 38,905,064 (GRCm39) |
T593I |
probably damaging |
Het |
| Tcerg1l |
T |
A |
7: 137,815,100 (GRCm39) |
E526D |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,414,942 (GRCm39) |
V215M |
possibly damaging |
Het |
| Trappc8 |
T |
C |
18: 20,985,838 (GRCm39) |
D601G |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,281,313 (GRCm39) |
N971K |
probably damaging |
Het |
| Ube2g2 |
A |
T |
10: 77,466,711 (GRCm39) |
E36D |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,308,300 (GRCm39) |
R360S |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,594,179 (GRCm39) |
V2182A |
probably benign |
Het |
|
| Other mutations in Mrps5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01968:Mrps5
|
APN |
2 |
127,433,827 (GRCm39) |
missense |
probably null |
0.01 |
|
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 |
2016-08-02 |
Incidental Mutation