Incidental Mutation 'IGL00563:Mrpl19'
| ID |
277771 |
| 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 # |
IGL00563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
81934832-81942939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81942853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 19
(V19A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032124]
|
| AlphaFold |
Q9D338 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032124
AA Change: V19A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: V19A
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
C |
5: 25,202,619 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,222,596 (GRCm39) |
|
probably benign |
Het |
| AU016765 |
C |
A |
17: 64,826,877 (GRCm39) |
|
noncoding transcript |
Het |
| Clstn2 |
A |
G |
9: 97,464,505 (GRCm39) |
|
probably benign |
Het |
| Crip1 |
T |
A |
12: 113,117,232 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
| Fktn |
A |
T |
4: 53,747,007 (GRCm39) |
|
probably null |
Het |
| Fndc3a |
C |
A |
14: 72,796,797 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
A |
4: 88,267,046 (GRCm39) |
M1019K |
unknown |
Het |
| Fuca2 |
A |
T |
10: 13,381,651 (GRCm39) |
D188V |
probably damaging |
Het |
| Gzmk |
C |
T |
13: 113,309,658 (GRCm39) |
V92I |
probably benign |
Het |
| Mprip |
C |
T |
11: 59,643,443 (GRCm39) |
R520W |
probably damaging |
Het |
| Ndufb3 |
T |
A |
1: 58,634,958 (GRCm39) |
H103Q |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,382,779 (GRCm39) |
V1675A |
possibly damaging |
Het |
| Saxo1 |
C |
T |
4: 86,363,809 (GRCm39) |
E225K |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,540,268 (GRCm39) |
S383P |
probably damaging |
Het |
| Slc22a29 |
T |
A |
19: 8,138,993 (GRCm39) |
T490S |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,351,532 (GRCm39) |
S854T |
probably benign |
Het |
| Smim23 |
T |
C |
11: 32,771,893 (GRCm39) |
T58A |
probably benign |
Het |
| Tas2r134 |
T |
C |
2: 51,518,100 (GRCm39) |
I193T |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,379,658 (GRCm39) |
|
probably null |
Het |
| Trav13n-4 |
T |
G |
14: 53,601,423 (GRCm39) |
V64G |
possibly damaging |
Het |
| Trmt10a |
G |
A |
3: 137,853,177 (GRCm39) |
E13K |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,922,496 (GRCm39) |
S239G |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,077 (GRCm39) |
N442K |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,712,078 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,526,366 (GRCm39) |
D5G |
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 |
|
IGL02113:Mrpl19
|
APN |
6 |
81,942,896 (GRCm39) |
missense |
probably benign |
|
|
IGL02116:Mrpl19
|
APN |
6 |
81,942,758 (GRCm39) |
missense |
probably benign |
0.41 |
|
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