Incidental Mutation 'IGL00974:Mrpl39'
| ID |
306631 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrpl39
|
| Ensembl Gene |
ENSMUSG00000022889 |
| Gene Name |
mitochondrial ribosomal protein L39 |
| Synonyms |
MRP-L5, Rpml5 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
IGL00974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
84515068-84532261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84520740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 300
(P300S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116584]
|
| AlphaFold |
Q9JKF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116584
AA Change: P300S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112283
Gene: ENSMUSG00000022889
AA Change: P300S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
SCOP:d1a04a1
|
27 |
69 |
8e-3 |
SMART |
|
PDB:4CE4|C
|
66 |
335 |
N/A |
PDB |
|
SCOP:d1qf6a2
|
73 |
126 |
1e-2 |
SMART |
|
SCOP:d1qf6a3
|
128 |
319 |
4e-28 |
SMART |
|
| 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. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brwd1 |
T |
A |
16: 95,844,226 (GRCm39) |
K776M |
probably damaging |
Het |
| Crisp4 |
T |
C |
1: 18,198,871 (GRCm39) |
T188A |
probably damaging |
Het |
| E130311K13Rik |
T |
A |
3: 63,827,784 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
A |
G |
15: 6,672,066 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,751,852 (GRCm39) |
V2076M |
possibly damaging |
Het |
| Grik5 |
A |
T |
7: 24,713,310 (GRCm39) |
I766N |
probably damaging |
Het |
| Grk3 |
A |
G |
5: 113,133,685 (GRCm39) |
Y46H |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,022,377 (GRCm39) |
D456G |
probably damaging |
Het |
| Kcna10 |
A |
G |
3: 107,102,647 (GRCm39) |
D426G |
probably damaging |
Het |
| Luzp2 |
A |
T |
7: 54,724,774 (GRCm39) |
I112F |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,990,435 (GRCm39) |
R519M |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,529,492 (GRCm39) |
I328N |
probably benign |
Het |
| Slc22a8 |
A |
G |
19: 8,587,290 (GRCm39) |
N450S |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,897,397 (GRCm39) |
T473A |
probably benign |
Het |
| Slc4a7 |
C |
T |
14: 14,760,292 (GRCm38) |
P576S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,242,670 (GRCm39) |
I2057T |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,893,226 (GRCm39) |
T389I |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,937,707 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
A |
G |
14: 76,743,882 (GRCm39) |
Y10C |
probably damaging |
Het |
| Vmn1r34 |
T |
C |
6: 66,614,639 (GRCm39) |
H33R |
possibly damaging |
Het |
| Vmn2r102 |
G |
T |
17: 19,897,771 (GRCm39) |
W262L |
possibly damaging |
Het |
|
| Other mutations in Mrpl39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0671:Mrpl39
|
UTSW |
16 |
84,531,282 (GRCm39) |
splice site |
probably benign |
|
|
R1682:Mrpl39
|
UTSW |
16 |
84,527,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2357:Mrpl39
|
UTSW |
16 |
84,524,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2424:Mrpl39
|
UTSW |
16 |
84,527,748 (GRCm39) |
missense |
probably benign |
|
|
R4418:Mrpl39
|
UTSW |
16 |
84,522,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4976:Mrpl39
|
UTSW |
16 |
84,531,293 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5375:Mrpl39
|
UTSW |
16 |
84,520,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5730:Mrpl39
|
UTSW |
16 |
84,529,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5948:Mrpl39
|
UTSW |
16 |
84,522,041 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6407:Mrpl39
|
UTSW |
16 |
84,529,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6910:Mrpl39
|
UTSW |
16 |
84,532,080 (GRCm39) |
missense |
unknown |
|
|
R8519:Mrpl39
|
UTSW |
16 |
84,527,736 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9050:Mrpl39
|
UTSW |
16 |
84,531,844 (GRCm39) |
intron |
probably benign |
|
|
R9309:Mrpl39
|
UTSW |
16 |
84,532,071 (GRCm39) |
missense |
unknown |
|
|
R9445:Mrpl39
|
UTSW |
16 |
84,531,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9469:Mrpl39
|
UTSW |
16 |
84,517,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Mrpl39
|
UTSW |
16 |
84,527,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mrpl39
|
UTSW |
16 |
84,520,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation