Incidental Mutation 'R6910:Mrpl39'
| ID |
538992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl39
|
| Ensembl Gene |
ENSMUSG00000022889 |
| Gene Name |
mitochondrial ribosomal protein L39 |
| Synonyms |
MRP-L5, Rpml5 |
| MMRRC Submission |
045002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R6910 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
84515068-84532261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84532080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 9
(V9A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116584]
|
| AlphaFold |
Q9JKF7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000116584
AA Change: V9A
|
| SMART Domains |
Protein: ENSMUSP00000112283
Gene: ENSMUSG00000022889
AA Change: V9A
| 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 |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Cfap54 |
A |
G |
10: 92,672,374 (GRCm39) |
S2899P |
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,926,977 (GRCm39) |
W82R |
probably damaging |
Het |
| Dennd3 |
A |
G |
15: 73,426,965 (GRCm39) |
T781A |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,048,824 (GRCm39) |
D597G |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,744,597 (GRCm39) |
T1598A |
probably benign |
Het |
| Glp2r |
A |
G |
11: 67,621,497 (GRCm39) |
F162S |
probably benign |
Het |
| Gm17655 |
T |
A |
5: 110,195,039 (GRCm39) |
R248* |
probably null |
Het |
| Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Hapln2 |
A |
G |
3: 87,931,135 (GRCm39) |
Y127H |
probably damaging |
Het |
| Hdac4 |
G |
T |
1: 91,909,875 (GRCm39) |
T463K |
probably damaging |
Het |
| Ift80 |
A |
C |
3: 68,835,068 (GRCm39) |
S458A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,098,459 (GRCm39) |
D1846G |
possibly damaging |
Het |
| Map3k8 |
A |
G |
18: 4,340,801 (GRCm39) |
I171T |
probably benign |
Het |
| Micu1 |
A |
G |
10: 59,576,489 (GRCm39) |
E115G |
probably damaging |
Het |
| Ncoa7 |
T |
G |
10: 30,570,117 (GRCm39) |
I281L |
possibly damaging |
Het |
| Nms |
A |
G |
1: 38,980,976 (GRCm39) |
E54G |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,091,305 (GRCm39) |
A84V |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
| Or11g27 |
G |
A |
14: 50,771,330 (GRCm39) |
V154M |
probably benign |
Het |
| Pcdhga10 |
T |
A |
18: 37,881,285 (GRCm39) |
S349T |
probably damaging |
Het |
| R3hcc1 |
G |
A |
14: 69,935,024 (GRCm39) |
P454L |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr3 |
T |
C |
2: 112,788,520 (GRCm39) |
D170G |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,570,447 (GRCm39) |
V151A |
probably damaging |
Het |
| Scp2 |
C |
A |
4: 107,962,283 (GRCm39) |
G81C |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,844,695 (GRCm39) |
T173A |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,998,887 (GRCm39) |
H8142R |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,772,272 (GRCm39) |
T520A |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,256 (GRCm39) |
S170P |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,288,733 (GRCm39) |
D54G |
possibly damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,673,475 (GRCm39) |
F178L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,417,342 (GRCm39) |
E3041G |
unknown |
Het |
| Zfp1001 |
A |
T |
2: 150,165,987 (GRCm39) |
Q56L |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,975,828 (GRCm39) |
H699L |
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 |
|
R6407:Mrpl39
|
UTSW |
16 |
84,529,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GGGACATGTTTGCCGAAGAC -3'
(R):5'- TAGACACTTCTGCGACTCCTCAG -3'
Sequencing Primer
(F):5'- GACTGGGGCTCCTAAAACC -3'
(R):5'- CCAAGGGTGAGCCATCCAAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation