Incidental Mutation 'R6407:Mrpl39'
ID |
514511 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrpl39
|
Ensembl Gene |
ENSMUSG00000022889 |
Gene Name |
mitochondrial ribosomal protein L39 |
Synonyms |
MRP-L5, Rpml5 |
MMRRC Submission |
044552-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.945)
|
Stock # |
R6407 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
84515068-84532261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84529273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 123
(K123R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116584]
|
AlphaFold |
Q9JKF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000116584
AA Change: K123R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000112283 Gene: ENSMUSG00000022889 AA Change: K123R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157433
|
Meta Mutation Damage Score |
0.1059 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
100% (36/36) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
T |
C |
18: 65,422,809 (GRCm39) |
Y1963C |
probably benign |
Het |
Bptf |
T |
A |
11: 107,001,952 (GRCm39) |
N387Y |
probably damaging |
Het |
C1ql2 |
T |
C |
1: 120,269,340 (GRCm39) |
L165P |
probably damaging |
Het |
Col5a2 |
C |
A |
1: 45,415,938 (GRCm39) |
C1403F |
probably damaging |
Het |
Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
Htr3a |
G |
T |
9: 48,812,355 (GRCm39) |
Y250* |
probably null |
Het |
Ighg2c |
T |
C |
12: 113,252,271 (GRCm39) |
K94E |
unknown |
Het |
Ighg3 |
T |
C |
12: 113,323,770 (GRCm39) |
N206S |
unknown |
Het |
Il36rn |
A |
G |
2: 24,171,365 (GRCm39) |
Y151C |
probably damaging |
Het |
Kif22 |
G |
A |
7: 126,632,375 (GRCm39) |
R312C |
probably damaging |
Het |
Lap3 |
T |
A |
5: 45,669,267 (GRCm39) |
V472E |
probably damaging |
Het |
Mast3 |
T |
C |
8: 71,234,772 (GRCm39) |
T762A |
probably benign |
Het |
Mfsd12 |
T |
C |
10: 81,198,067 (GRCm39) |
|
probably null |
Het |
Mup8 |
T |
A |
4: 60,220,394 (GRCm39) |
T113S |
possibly damaging |
Het |
Nhp2 |
T |
C |
11: 51,510,730 (GRCm39) |
V29A |
probably benign |
Het |
Or14a260 |
T |
C |
7: 85,985,277 (GRCm39) |
E109G |
possibly damaging |
Het |
Pex3 |
T |
C |
10: 13,422,112 (GRCm39) |
R63G |
probably damaging |
Het |
Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
Rims2 |
T |
C |
15: 39,315,724 (GRCm39) |
S617P |
probably damaging |
Het |
Rnf223 |
A |
T |
4: 156,216,816 (GRCm39) |
T64S |
probably damaging |
Het |
Rrp12 |
C |
T |
19: 41,872,181 (GRCm39) |
V432M |
probably damaging |
Het |
Sag |
T |
C |
1: 87,742,528 (GRCm39) |
V100A |
probably benign |
Het |
Slc17a7 |
C |
T |
7: 44,819,350 (GRCm39) |
A167V |
probably benign |
Het |
Slc38a6 |
T |
C |
12: 73,356,949 (GRCm39) |
F115S |
probably damaging |
Het |
Spata31h1 |
A |
G |
10: 82,129,645 (GRCm39) |
S1122P |
probably benign |
Het |
Spdye4a |
T |
C |
5: 143,211,454 (GRCm39) |
T37A |
probably benign |
Het |
Sphk2 |
T |
C |
7: 45,362,024 (GRCm39) |
T138A |
possibly damaging |
Het |
Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
Sult1a1 |
T |
C |
7: 126,272,356 (GRCm39) |
|
probably null |
Het |
Tmem212 |
A |
G |
3: 27,938,988 (GRCm39) |
V166A |
probably benign |
Het |
Tor4a |
A |
G |
2: 25,084,952 (GRCm39) |
L317P |
probably benign |
Het |
Trim43c |
A |
T |
9: 88,722,467 (GRCm39) |
T38S |
probably benign |
Het |
Tshz1 |
C |
A |
18: 84,034,091 (GRCm39) |
V106F |
possibly damaging |
Het |
Tut4 |
G |
T |
4: 108,415,979 (GRCm39) |
E1648D |
probably damaging |
Het |
Yap1 |
A |
G |
9: 7,962,373 (GRCm39) |
M225T |
possibly damaging |
Het |
Zfp74 |
T |
C |
7: 29,635,048 (GRCm39) |
E220G |
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 |
R5948:Mrpl39
|
UTSW |
16 |
84,522,041 (GRCm39) |
missense |
probably benign |
0.25 |
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'- GGTACCACCAGTATTTTGAACTAC -3'
(R):5'- GCAAAAGTAATCCCCAGAATTTTGC -3'
Sequencing Primer
(F):5'- CTCCATTGCACATAGGTTG -3'
(R):5'- ATCCCCAGAATTTTGCTTCAATTG -3'
|
Posted On |
2018-05-04 |