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 |
D6Ertd157e, RLX1, MRP-L15, Rpml15, 9030416F12Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
IGL02256
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
81934832-81942939 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 81941300 bp (GRCm39)
|
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: 91,599,399 (GRCm39) |
V173E |
possibly damaging |
Het |
Dennd4c |
A |
G |
4: 86,717,778 (GRCm39) |
T592A |
probably damaging |
Het |
Dhcr24 |
G |
A |
4: 106,429,517 (GRCm39) |
G197S |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,403,369 (GRCm39) |
Y40C |
probably damaging |
Het |
Fbxl17 |
A |
C |
17: 63,806,085 (GRCm39) |
C310G |
probably benign |
Het |
H2bc8 |
G |
T |
13: 23,755,609 (GRCm39) |
M1I |
probably null |
Het |
Hdac10 |
T |
C |
15: 89,010,097 (GRCm39) |
|
probably benign |
Het |
Mcm6 |
A |
G |
1: 128,263,465 (GRCm39) |
|
probably null |
Het |
Mzf1 |
A |
G |
7: 12,786,664 (GRCm39) |
|
probably benign |
Het |
Nhlrc2 |
A |
G |
19: 56,585,793 (GRCm39) |
E676G |
probably benign |
Het |
Notch3 |
T |
C |
17: 32,351,298 (GRCm39) |
D1899G |
probably damaging |
Het |
Nxph1 |
A |
G |
6: 9,247,185 (GRCm39) |
D52G |
probably benign |
Het |
Or10g9b |
A |
G |
9: 39,917,349 (GRCm39) |
F299L |
probably benign |
Het |
Or10j2 |
A |
T |
1: 173,098,194 (GRCm39) |
I151F |
probably benign |
Het |
Or2aj6 |
T |
C |
16: 19,443,756 (GRCm39) |
I31M |
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
Or8b49 |
G |
A |
9: 38,505,840 (GRCm39) |
V108I |
probably benign |
Het |
Pax6 |
T |
C |
2: 105,515,115 (GRCm39) |
V54A |
probably benign |
Het |
Pbx1 |
A |
T |
1: 168,011,171 (GRCm39) |
H376Q |
possibly damaging |
Het |
Prpf4b |
T |
A |
13: 35,083,861 (GRCm39) |
C877S |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,336,649 (GRCm39) |
L373P |
probably damaging |
Het |
Samd9l |
G |
A |
6: 3,376,197 (GRCm39) |
R355W |
probably damaging |
Het |
Smarce1 |
A |
T |
11: 99,110,206 (GRCm39) |
N127K |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,070,990 (GRCm39) |
I1511V |
probably benign |
Het |
Stab1 |
C |
T |
14: 30,863,549 (GRCm39) |
R2071H |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,070,311 (GRCm39) |
C2492S |
possibly damaging |
Het |
Tbr1 |
C |
A |
2: 61,635,218 (GRCm39) |
T56N |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,668,149 (GRCm39) |
Y890* |
probably null |
Het |
Tlr6 |
T |
C |
5: 65,112,287 (GRCm39) |
T207A |
probably benign |
Het |
Tmem241 |
A |
G |
18: 12,246,489 (GRCm39) |
W54R |
probably damaging |
Het |
Tmem87a |
A |
G |
2: 120,208,377 (GRCm39) |
V326A |
probably damaging |
Het |
Trappc14 |
C |
A |
5: 138,258,577 (GRCm39) |
D557Y |
probably damaging |
Het |
Uroc1 |
A |
G |
6: 90,323,669 (GRCm39) |
D372G |
possibly damaging |
Het |
Zc3h7a |
A |
C |
16: 10,965,140 (GRCm39) |
S664R |
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 |
|
IGL02116:Mrpl19
|
APN |
6 |
81,942,758 (GRCm39) |
missense |
probably benign |
0.41 |
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 |