Incidental Mutation 'IGL00917:Mrpl3'
| ID |
28149 |
| 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 # |
IGL00917
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
104930394-104954665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 104934240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 121
(V121G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035177]
[ENSMUST00000131655]
[ENSMUST00000142424]
[ENSMUST00000149243]
[ENSMUST00000190492]
[ENSMUST00000214036]
|
| AlphaFold |
Q99N95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035177
AA Change: V129G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035177
Gene: ENSMUSG00000032563
AA Change: V129G
| 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 damaging
Transcript: ENSMUST00000131655
AA Change: V129G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120313
Gene: ENSMUSG00000032563
AA Change: V129G
| 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 damaging
Transcript: ENSMUST00000149243
AA Change: V129G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117547
Gene: ENSMUSG00000032563
AA Change: V129G
| 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 damaging
Transcript: ENSMUST00000214036
AA Change: V121G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,241,107 (GRCm39) |
V26E |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,011,120 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
C |
T |
5: 81,841,421 (GRCm39) |
T766I |
possibly damaging |
Het |
| Atad2b |
A |
T |
12: 5,015,837 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,216,453 (GRCm39) |
S664R |
probably benign |
Het |
| Cand1 |
A |
C |
10: 119,046,841 (GRCm39) |
I883S |
possibly damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,367 (GRCm39) |
D85G |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,081,909 (GRCm39) |
R514Q |
possibly damaging |
Het |
| Cnst |
T |
C |
1: 179,452,557 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,661,453 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
A |
C |
5: 122,007,168 (GRCm39) |
L831R |
probably null |
Het |
| Elf2 |
T |
A |
3: 51,215,467 (GRCm39) |
|
probably benign |
Het |
| Frey1 |
T |
A |
2: 92,213,563 (GRCm39) |
S39T |
probably benign |
Het |
| Glp1r |
A |
G |
17: 31,138,443 (GRCm39) |
|
probably benign |
Het |
| Hus1b |
A |
G |
13: 31,131,527 (GRCm39) |
M44T |
probably benign |
Het |
| Mbd6 |
A |
G |
10: 127,119,988 (GRCm39) |
|
probably benign |
Het |
| Med31 |
T |
A |
11: 72,102,905 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
C |
T |
6: 60,952,894 (GRCm39) |
Q392* |
probably null |
Het |
| Or10am5 |
A |
G |
7: 6,517,577 (GRCm39) |
S284P |
probably damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,649 (GRCm39) |
M116K |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,968,969 (GRCm39) |
V879A |
possibly damaging |
Het |
| Pkn2 |
G |
T |
3: 142,559,386 (GRCm39) |
D46E |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,557,428 (GRCm39) |
C2244S |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,474 (GRCm39) |
H259Q |
possibly damaging |
Het |
| Rab8b |
C |
T |
9: 66,761,969 (GRCm39) |
W102* |
probably null |
Het |
| Rad54l2 |
A |
T |
9: 106,587,638 (GRCm39) |
L709Q |
possibly damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,592,535 (GRCm39) |
V471A |
probably benign |
Het |
| Rbms3 |
A |
G |
9: 116,939,183 (GRCm39) |
S27P |
probably damaging |
Het |
| Rpl35a |
A |
G |
16: 32,879,101 (GRCm39) |
K73E |
possibly damaging |
Het |
| Sugct |
A |
T |
13: 17,032,503 (GRCm39) |
Y416* |
probably null |
Het |
| Top2b |
A |
G |
14: 16,407,354 (GRCm38) |
I713V |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,054,766 (GRCm39) |
R777S |
possibly damaging |
Het |
| Vps37a |
T |
A |
8: 40,993,779 (GRCm39) |
M258K |
probably benign |
Het |
| Zfp944 |
G |
A |
17: 22,558,765 (GRCm39) |
L161F |
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 |
|
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 |
|
IGL03188:Mrpl3
|
APN |
9 |
104,934,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-04-17 |
Incidental Mutation