Incidental Mutation 'IGL02116:Mrpl19'
| ID |
280380 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrpl19
|
| Ensembl Gene |
ENSMUSG00000030045 |
| Gene Name |
mitochondrial ribosomal protein L19 |
| Synonyms |
D6Ertd157e, RLX1, MRP-L15, Rpml15, 9030416F12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
IGL02116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
81934832-81942939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81942758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 51
(P51S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032124]
|
| AlphaFold |
Q9D338 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032124
AA Change: P51S
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: P51S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L19
|
92 |
198 |
9e-19 |
PFAM |
|
SCOP:d1fura_
|
214 |
282 |
2e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148025
|
| 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,981,018 (GRCm39) |
N190K |
possibly damaging |
Het |
| Adamts19 |
T |
C |
18: 58,970,571 (GRCm39) |
S52P |
probably benign |
Het |
| Ahrr |
G |
T |
13: 74,368,692 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Ap4s1 |
T |
C |
12: 51,769,833 (GRCm39) |
|
probably null |
Het |
| Atrn |
T |
C |
2: 130,800,009 (GRCm39) |
V462A |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,045,130 (GRCm39) |
S800G |
possibly damaging |
Het |
| Dach1 |
T |
G |
14: 98,138,859 (GRCm39) |
N528T |
probably damaging |
Het |
| Foxl2 |
T |
C |
9: 98,838,111 (GRCm39) |
M133T |
probably damaging |
Het |
| Grsf1 |
A |
G |
5: 88,818,033 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,042,772 (GRCm39) |
I43T |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,978 (GRCm39) |
Y2172C |
probably damaging |
Het |
| Hey1 |
G |
T |
3: 8,731,640 (GRCm39) |
|
probably null |
Het |
| Hnrnph3 |
A |
T |
10: 62,851,855 (GRCm39) |
|
probably benign |
Het |
| Hps1 |
A |
T |
19: 42,759,568 (GRCm39) |
Y81* |
probably null |
Het |
| Inhba |
A |
G |
13: 16,201,557 (GRCm39) |
H373R |
probably benign |
Het |
| Leo1 |
T |
A |
9: 75,356,697 (GRCm39) |
I359K |
probably damaging |
Het |
| Mcoln3 |
A |
G |
3: 145,839,664 (GRCm39) |
N339D |
probably benign |
Het |
| Nadk |
C |
A |
4: 155,663,763 (GRCm39) |
|
probably benign |
Het |
| Or5an11 |
A |
G |
19: 12,246,374 (GRCm39) |
Y260C |
probably damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,632 (GRCm39) |
T244S |
probably benign |
Het |
| Pappa2 |
T |
G |
1: 158,672,695 (GRCm39) |
I1083L |
probably benign |
Het |
| R3hdm2 |
A |
G |
10: 127,334,421 (GRCm39) |
D948G |
probably damaging |
Het |
| Rbm15 |
A |
T |
3: 107,237,596 (GRCm39) |
L934Q |
probably damaging |
Het |
| Rec8 |
T |
A |
14: 55,862,336 (GRCm39) |
|
probably null |
Het |
| Riok1 |
A |
G |
13: 38,243,932 (GRCm39) |
E486G |
possibly damaging |
Het |
| Rptn |
A |
C |
3: 93,302,404 (GRCm39) |
E40A |
possibly damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,950,688 (GRCm39) |
T255A |
probably benign |
Het |
| Slc5a8 |
A |
T |
10: 88,755,362 (GRCm39) |
M490L |
probably benign |
Het |
| Sned1 |
C |
A |
1: 93,209,447 (GRCm39) |
C62* |
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,063,782 (GRCm39) |
T2215A |
probably benign |
Het |
| Synpo |
T |
A |
18: 60,736,528 (GRCm39) |
R234W |
probably damaging |
Het |
| Tmco3 |
A |
T |
8: 13,342,706 (GRCm39) |
|
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,244,972 (GRCm39) |
D250G |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,397,548 (GRCm39) |
I237F |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,078,466 (GRCm39) |
V306A |
probably benign |
Het |
| Zfp629 |
A |
G |
7: 127,211,890 (GRCm39) |
W8R |
probably damaging |
Het |
| Zim1 |
T |
C |
7: 6,681,253 (GRCm39) |
T137A |
probably benign |
Het |
|
| Other mutations in Mrpl19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Mrpl19
|
APN |
6 |
81,942,853 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00563:Mrpl19
|
APN |
6 |
81,942,853 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02113:Mrpl19
|
APN |
6 |
81,942,896 (GRCm39) |
missense |
probably benign |
|
|
IGL02256:Mrpl19
|
APN |
6 |
81,941,300 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02347:Mrpl19
|
APN |
6 |
81,938,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02415:Mrpl19
|
APN |
6 |
81,940,942 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02825:Mrpl19
|
APN |
6 |
81,942,796 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03189:Mrpl19
|
APN |
6 |
81,938,974 (GRCm39) |
nonsense |
probably null |
|
|
R1824:Mrpl19
|
UTSW |
6 |
81,941,060 (GRCm39) |
splice site |
probably null |
|
|
R2310:Mrpl19
|
UTSW |
6 |
81,941,054 (GRCm39) |
splice site |
probably null |
|
|
R3176:Mrpl19
|
UTSW |
6 |
81,941,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3276:Mrpl19
|
UTSW |
6 |
81,941,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3821:Mrpl19
|
UTSW |
6 |
81,938,987 (GRCm39) |
nonsense |
probably null |
|
|
R4705:Mrpl19
|
UTSW |
6 |
81,941,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4736:Mrpl19
|
UTSW |
6 |
81,941,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:Mrpl19
|
UTSW |
6 |
81,938,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7408:Mrpl19
|
UTSW |
6 |
81,942,793 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7835:Mrpl19
|
UTSW |
6 |
81,939,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7956:Mrpl19
|
UTSW |
6 |
81,940,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8432:Mrpl19
|
UTSW |
6 |
81,939,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mrpl19
|
UTSW |
6 |
81,941,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation