Incidental Mutation 'R5948:Mrpl39'
ID |
472298 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrpl39
|
Ensembl Gene |
ENSMUSG00000022889 |
Gene Name |
mitochondrial ribosomal protein L39 |
Synonyms |
MRP-L5, Rpml5 |
MMRRC Submission |
043244-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.944)
|
Stock # |
R5948 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
84515068-84532261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84522041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 244
(N244D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116584]
|
AlphaFold |
Q9JKF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000116584
AA Change: N244D
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000112283 Gene: ENSMUSG00000022889 AA Change: N244D
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
T |
C |
3: 37,137,504 (GRCm39) |
|
probably null |
Het |
Adam8 |
G |
T |
7: 139,567,797 (GRCm39) |
D341E |
probably benign |
Het |
Ankrd6 |
T |
C |
4: 32,817,075 (GRCm39) |
T351A |
possibly damaging |
Het |
Ccdc150 |
T |
C |
1: 54,316,873 (GRCm39) |
S251P |
possibly damaging |
Het |
Cfh |
T |
C |
1: 140,036,546 (GRCm39) |
N629S |
probably damaging |
Het |
Col4a2 |
T |
C |
8: 11,470,600 (GRCm39) |
S453P |
probably benign |
Het |
Csf2 |
T |
C |
11: 54,138,514 (GRCm39) |
D109G |
probably benign |
Het |
Dapk1 |
C |
A |
13: 60,877,209 (GRCm39) |
H483N |
probably damaging |
Het |
Dnah7c |
T |
G |
1: 46,711,657 (GRCm39) |
I2628R |
probably benign |
Het |
Dsp |
T |
C |
13: 38,379,377 (GRCm39) |
Y2041H |
possibly damaging |
Het |
Dusp10 |
A |
G |
1: 183,801,073 (GRCm39) |
N280S |
probably benign |
Het |
Efhc1 |
T |
A |
1: 21,043,052 (GRCm39) |
Y324N |
probably damaging |
Het |
Epsti1 |
T |
C |
14: 78,177,330 (GRCm39) |
L170P |
probably damaging |
Het |
Fbn2 |
C |
T |
18: 58,170,121 (GRCm39) |
G2217R |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,254,715 (GRCm39) |
|
probably null |
Het |
Nptxr |
C |
T |
15: 79,674,042 (GRCm39) |
A445T |
probably benign |
Het |
Or1j15 |
A |
G |
2: 36,459,363 (GRCm39) |
Y251C |
probably damaging |
Het |
Otud3 |
A |
G |
4: 138,624,925 (GRCm39) |
Y259H |
probably benign |
Het |
Parvb |
G |
A |
15: 84,187,662 (GRCm39) |
V257M |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,210,086 (GRCm39) |
E2258G |
probably benign |
Het |
Prpf8 |
A |
G |
11: 75,400,015 (GRCm39) |
E2303G |
possibly damaging |
Het |
Psmc6 |
A |
G |
14: 45,572,114 (GRCm39) |
D88G |
probably benign |
Het |
Rbbp6 |
C |
T |
7: 122,596,851 (GRCm39) |
T701I |
probably damaging |
Het |
Rtl1 |
T |
A |
12: 109,557,033 (GRCm39) |
D1602V |
possibly damaging |
Het |
Rubcnl |
T |
C |
14: 75,285,056 (GRCm39) |
L525P |
probably damaging |
Het |
Sbf2 |
T |
C |
7: 110,088,492 (GRCm39) |
D73G |
probably damaging |
Het |
Sh3tc2 |
T |
A |
18: 62,146,176 (GRCm39) |
M1185K |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,960,960 (GRCm39) |
K469E |
probably damaging |
Het |
Ttc41 |
T |
C |
10: 86,549,088 (GRCm39) |
L94P |
probably damaging |
Het |
Ttf1 |
G |
A |
2: 28,963,932 (GRCm39) |
A603T |
possibly damaging |
Het |
Usp9y |
A |
T |
Y: 1,324,996 (GRCm39) |
H1686Q |
possibly damaging |
Het |
Vps37a |
A |
G |
8: 40,993,752 (GRCm39) |
E249G |
possibly damaging |
Het |
Zfp273 |
A |
G |
13: 67,973,918 (GRCm39) |
I316V |
probably benign |
Het |
Zfp600 |
T |
A |
4: 146,131,645 (GRCm39) |
N104K |
probably damaging |
Het |
|
Other mutations in Mrpl39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00974:Mrpl39
|
APN |
16 |
84,520,740 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCCCAATCTGAAAATCAACTCTC -3'
(R):5'- TATCAGGCTGTGGTCCTGTC -3'
Sequencing Primer
(F):5'- CCAGTTTACAGAGACGTCGTC -3'
(R):5'- CCAGTGGACAGTGCTGTGAG -3'
|
Posted On |
2017-03-31 |