Incidental Mutation 'IGL03188:Mrpl3'
| ID |
412514 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrpl3
|
| Ensembl Gene |
ENSMUSG00000032563 |
| Gene Name |
mitochondrial ribosomal protein L3 |
| Synonyms |
dcr, 5930422H18Rik, 2010320L16Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
104930394-104954665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104934264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 137
(D137G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035177]
[ENSMUST00000131655]
[ENSMUST00000142424]
[ENSMUST00000149243]
[ENSMUST00000190492]
[ENSMUST00000214036]
|
| AlphaFold |
Q99N95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035177
AA Change: D137G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000035177
Gene: ENSMUSG00000032563
AA Change: D137G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
1 |
119 |
1.1e-13 |
PFAM |
|
Pfam:Ribosomal_L3
|
112 |
340 |
2e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131655
AA Change: D137G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000120313
Gene: ENSMUSG00000032563
AA Change: D137G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4CE4|E
|
1 |
148 |
1e-82 |
PDB |
|
SCOP:d1jj2b_
|
90 |
148 |
5e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142424
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149243
AA Change: D137G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117547
Gene: ENSMUSG00000032563
AA Change: D137G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
103 |
300 |
1.4e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190492
|
| SMART Domains |
Protein: ENSMUSP00000140346
Gene: ENSMUSG00000032563
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4CE4|E
|
1 |
37 |
2e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214036
AA Change: D129G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,425,656 (GRCm39) |
C1202F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 72,995,182 (GRCm39) |
V466I |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aptx |
A |
T |
4: 40,695,143 (GRCm39) |
|
probably null |
Het |
| Aurka |
A |
T |
2: 172,205,688 (GRCm39) |
D123E |
possibly damaging |
Het |
| Btaf1 |
T |
C |
19: 36,926,508 (GRCm39) |
I60T |
possibly damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,067 (GRCm39) |
|
probably null |
Het |
| Cct5 |
T |
C |
15: 31,598,148 (GRCm39) |
N55S |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,929,559 (GRCm39) |
S547P |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,320,909 (GRCm39) |
I114N |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,886,465 (GRCm39) |
D603G |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,337,371 (GRCm39) |
S115P |
probably benign |
Het |
| Kalrn |
C |
A |
16: 34,134,562 (GRCm39) |
V401L |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,561,623 (GRCm39) |
K482I |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,218,515 (GRCm39) |
A114T |
unknown |
Het |
| Lig1 |
G |
A |
7: 13,045,032 (GRCm39) |
|
probably benign |
Het |
| Lnx1 |
G |
A |
5: 74,780,924 (GRCm39) |
T199M |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,557 (GRCm39) |
|
probably benign |
Het |
| Mfsd2b |
A |
T |
12: 4,916,538 (GRCm39) |
|
probably null |
Het |
| Muc15 |
A |
G |
2: 110,562,044 (GRCm39) |
D160G |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,369 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
G |
7: 55,582,680 (GRCm39) |
N355T |
probably benign |
Het |
| Or11h4 |
A |
T |
14: 50,974,315 (GRCm39) |
Y101* |
probably null |
Het |
| Or2v2 |
T |
C |
11: 49,004,536 (GRCm39) |
N6D |
probably damaging |
Het |
| Or51a43 |
A |
G |
7: 103,717,945 (GRCm39) |
S98P |
possibly damaging |
Het |
| Or5p60 |
T |
C |
7: 107,723,841 (GRCm39) |
T210A |
probably benign |
Het |
| Pfkm |
G |
T |
15: 98,021,124 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,157,327 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,857 (GRCm39) |
D244G |
possibly damaging |
Het |
| Rimoc1 |
A |
G |
15: 4,018,187 (GRCm39) |
Y163H |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,501,997 (GRCm39) |
S107P |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,351,632 (GRCm39) |
I783N |
probably damaging |
Het |
| Snx1 |
A |
G |
9: 66,001,734 (GRCm39) |
W307R |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,225 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Stk11ip |
G |
A |
1: 75,511,079 (GRCm39) |
V928M |
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,874,101 (GRCm39) |
M114V |
probably null |
Het |
| Trpm2 |
G |
A |
10: 77,754,743 (GRCm39) |
R1248C |
probably benign |
Het |
| Txnrd1 |
T |
C |
10: 82,720,880 (GRCm39) |
I347T |
possibly damaging |
Het |
| Unc5a |
A |
G |
13: 55,147,316 (GRCm39) |
S106G |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,612 (GRCm39) |
M691V |
probably benign |
Het |
| Zfp58 |
T |
A |
13: 67,639,528 (GRCm39) |
Q321L |
probably benign |
Het |
|
| Other mutations in Mrpl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00805:Mrpl3
|
APN |
9 |
104,941,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00917:Mrpl3
|
APN |
9 |
104,934,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01989:Mrpl3
|
APN |
9 |
104,948,678 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02727:Mrpl3
|
APN |
9 |
104,931,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0049:Mrpl3
|
UTSW |
9 |
104,932,872 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0049:Mrpl3
|
UTSW |
9 |
104,932,872 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0398:Mrpl3
|
UTSW |
9 |
104,941,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Mrpl3
|
UTSW |
9 |
104,954,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1469:Mrpl3
|
UTSW |
9 |
104,954,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1784:Mrpl3
|
UTSW |
9 |
104,934,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4026:Mrpl3
|
UTSW |
9 |
104,948,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4812:Mrpl3
|
UTSW |
9 |
104,951,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Mrpl3
|
UTSW |
9 |
104,934,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Mrpl3
|
UTSW |
9 |
104,954,294 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8219:Mrpl3
|
UTSW |
9 |
104,934,271 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
RF016:Mrpl3
|
UTSW |
9 |
104,952,452 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2016-08-02 |
Incidental Mutation