Incidental Mutation 'IGL02825:Mrpl19'
| ID |
361171 |
| 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 # |
IGL02825
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
81934832-81942939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 81942796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 38
(T38K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032124]
|
| AlphaFold |
Q9D338 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032124
AA Change: T38K
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: T38K
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
A |
G |
2: 26,733,710 (GRCm39) |
V163A |
possibly damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| B3gnt4 |
T |
C |
5: 123,649,114 (GRCm39) |
F160L |
possibly damaging |
Het |
| Brd3 |
T |
C |
2: 27,339,275 (GRCm39) |
E685G |
probably damaging |
Het |
| Cacna2d2 |
C |
T |
9: 107,401,659 (GRCm39) |
R746C |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chl1 |
T |
A |
6: 103,645,764 (GRCm39) |
V268E |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,303,889 (GRCm39) |
I392F |
probably damaging |
Het |
| Dnai1 |
T |
C |
4: 41,625,101 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 6,955,901 (GRCm39) |
|
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,617,243 (GRCm39) |
S1021P |
probably damaging |
Het |
| Exoc7 |
A |
C |
11: 116,188,411 (GRCm39) |
L296R |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 92,015,068 (GRCm39) |
|
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,862,125 (GRCm39) |
M232K |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,750,494 (GRCm39) |
S888T |
probably benign |
Het |
| Kirrel1 |
A |
T |
3: 86,996,595 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,378,474 (GRCm39) |
R4037Q |
probably damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,507,894 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
A |
T |
12: 41,502,592 (GRCm39) |
V575D |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,030,585 (GRCm39) |
Y103H |
probably damaging |
Het |
| Nefl |
A |
T |
14: 68,321,795 (GRCm39) |
K128N |
possibly damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,090 (GRCm39) |
N242D |
probably damaging |
Het |
| Oprd1 |
T |
A |
4: 131,844,670 (GRCm39) |
T113S |
probably damaging |
Het |
| Or10d1 |
A |
T |
9: 39,483,877 (GRCm39) |
I226N |
probably damaging |
Het |
| Or52s19 |
T |
C |
7: 103,007,568 (GRCm39) |
I278V |
probably benign |
Het |
| Pds5b |
C |
T |
5: 150,652,435 (GRCm39) |
T234I |
possibly damaging |
Het |
| Prpf3 |
A |
T |
3: 95,760,792 (GRCm39) |
C37S |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,083,509 (GRCm39) |
K587R |
possibly damaging |
Het |
| Scn3b |
T |
C |
9: 40,188,441 (GRCm39) |
C5R |
probably damaging |
Het |
| Sirpa |
C |
T |
2: 129,457,372 (GRCm39) |
P149S |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,864,343 (GRCm39) |
C486S |
probably damaging |
Het |
| Spin1 |
C |
A |
13: 51,277,332 (GRCm39) |
|
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,783,883 (GRCm39) |
D64G |
probably damaging |
Het |
| Trbv4 |
T |
A |
6: 41,036,613 (GRCm39) |
L46Q |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,092,921 (GRCm39) |
D386V |
possibly damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,132 (GRCm39) |
I306N |
probably benign |
Het |
| Vmn2r51 |
C |
T |
7: 9,832,046 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,274 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
T |
C |
12: 40,367,175 (GRCm39) |
K494E |
probably benign |
Het |
| Zranb3 |
A |
T |
1: 127,887,489 (GRCm39) |
S979R |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation