Incidental Mutation 'IGL02256:Mrpl19'
| ID |
286591 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrpl19
|
| Ensembl Gene |
ENSMUSG00000030045 |
| Gene Name |
mitochondrial ribosomal protein L19 |
| Synonyms |
Rpml15, D6Ertd157e, 9030416F12Rik, RLX1, MRP-L15 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
IGL02256
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
81957851-81965958 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81964319 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 87
(T87I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032124]
[ENSMUST00000043195]
|
| AlphaFold |
Q9D338 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032124
AA Change: T87I
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: T87I
| 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 |
probably benign
Transcript: ENSMUST00000043195
|
| SMART Domains |
Protein: ENSMUSP00000035644
Gene: ENSMUSG00000035125
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
210 |
N/A |
INTRINSIC |
|
coiled coil region
|
255 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
406 |
N/A |
INTRINSIC |
|
Pfam:GCFC
|
456 |
672 |
3e-34 |
PFAM |
|
low complexity region
|
753 |
763 |
N/A |
INTRINSIC |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
T |
A |
2: 91,769,054 (GRCm38) |
V173E |
possibly damaging |
Het |
| BC005561 |
T |
A |
5: 104,520,283 (GRCm38) |
Y890* |
probably null |
Het |
| BC037034 |
C |
A |
5: 138,260,315 (GRCm38) |
D557Y |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,799,541 (GRCm38) |
T592A |
probably damaging |
Het |
| Dhcr24 |
G |
A |
4: 106,572,320 (GRCm38) |
G197S |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 44,950,332 (GRCm38) |
Y40C |
probably damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,499,090 (GRCm38) |
C310G |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,125,894 (GRCm38) |
|
probably benign |
Het |
| Hist1h2bg |
G |
T |
13: 23,571,435 (GRCm38) |
M1I |
probably null |
Het |
| Mcm6 |
A |
G |
1: 128,335,728 (GRCm38) |
|
probably null |
Het |
| Mzf1 |
A |
G |
7: 13,052,737 (GRCm38) |
|
probably benign |
Het |
| Nhlrc2 |
A |
G |
19: 56,597,361 (GRCm38) |
E676G |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,132,324 (GRCm38) |
D1899G |
probably damaging |
Het |
| Nxph1 |
A |
G |
6: 9,247,185 (GRCm38) |
D52G |
probably benign |
Het |
| Olfr134 |
G |
T |
17: 38,175,686 (GRCm38) |
V201L |
probably benign |
Het |
| Olfr171 |
T |
C |
16: 19,625,006 (GRCm38) |
I31M |
probably benign |
Het |
| Olfr418 |
A |
T |
1: 173,270,627 (GRCm38) |
I151F |
probably benign |
Het |
| Olfr913 |
G |
A |
9: 38,594,544 (GRCm38) |
V108I |
probably benign |
Het |
| Olfr918 |
A |
T |
9: 38,673,480 (GRCm38) |
M1K |
probably null |
Het |
| Olfr980 |
A |
G |
9: 40,006,053 (GRCm38) |
F299L |
probably benign |
Het |
| Pax6 |
T |
C |
2: 105,684,770 (GRCm38) |
V54A |
probably benign |
Het |
| Pbx1 |
A |
T |
1: 168,183,602 (GRCm38) |
H376Q |
possibly damaging |
Het |
| Prpf4b |
T |
A |
13: 34,899,878 (GRCm38) |
C877S |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,425,353 (GRCm38) |
L373P |
probably damaging |
Het |
| Samd9l |
G |
A |
6: 3,376,197 (GRCm38) |
R355W |
probably damaging |
Het |
| Smarce1 |
A |
T |
11: 99,219,380 (GRCm38) |
N127K |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,120,990 (GRCm38) |
I1511V |
probably benign |
Het |
| Stab1 |
C |
T |
14: 31,141,592 (GRCm38) |
R2071H |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,070,311 (GRCm38) |
C2492S |
possibly damaging |
Het |
| Tbr1 |
C |
A |
2: 61,804,874 (GRCm38) |
T56N |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 64,954,944 (GRCm38) |
T207A |
probably benign |
Het |
| Tmem241 |
A |
G |
18: 12,113,432 (GRCm38) |
W54R |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,377,896 (GRCm38) |
V326A |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,346,687 (GRCm38) |
D372G |
possibly damaging |
Het |
| Zc3h7a |
A |
C |
16: 11,147,276 (GRCm38) |
S664R |
probably benign |
Het |
|
| Other mutations in Mrpl19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Mrpl19
|
APN |
6 |
81,965,872 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00563:Mrpl19
|
APN |
6 |
81,965,872 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02113:Mrpl19
|
APN |
6 |
81,965,915 (GRCm38) |
missense |
probably benign |
|
|
IGL02116:Mrpl19
|
APN |
6 |
81,965,777 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL02347:Mrpl19
|
APN |
6 |
81,962,011 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02415:Mrpl19
|
APN |
6 |
81,963,961 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL02825:Mrpl19
|
APN |
6 |
81,965,815 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL03189:Mrpl19
|
APN |
6 |
81,961,993 (GRCm38) |
nonsense |
probably null |
|
|
R1824:Mrpl19
|
UTSW |
6 |
81,964,079 (GRCm38) |
splice site |
probably null |
|
|
R2310:Mrpl19
|
UTSW |
6 |
81,964,073 (GRCm38) |
splice site |
probably null |
|
|
R3176:Mrpl19
|
UTSW |
6 |
81,964,066 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3276:Mrpl19
|
UTSW |
6 |
81,964,066 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3821:Mrpl19
|
UTSW |
6 |
81,962,006 (GRCm38) |
nonsense |
probably null |
|
|
R4705:Mrpl19
|
UTSW |
6 |
81,964,285 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4736:Mrpl19
|
UTSW |
6 |
81,964,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5464:Mrpl19
|
UTSW |
6 |
81,962,011 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7408:Mrpl19
|
UTSW |
6 |
81,965,812 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7835:Mrpl19
|
UTSW |
6 |
81,962,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7956:Mrpl19
|
UTSW |
6 |
81,963,981 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8432:Mrpl19
|
UTSW |
6 |
81,962,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Mrpl19
|
UTSW |
6 |
81,964,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation