Incidental Mutation 'R3952:Mrpl48'
ID |
426253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrpl48
|
Ensembl Gene |
ENSMUSG00000030706 |
Gene Name |
mitochondrial ribosomal protein L48 |
Synonyms |
1810030E20Rik, D4Ertd786e, CGI-118 |
MMRRC Submission |
040829-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.886)
|
Stock # |
R3952 (G1)
|
Quality Score |
28 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
100194986-100257508 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 100209130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107053]
[ENSMUST00000132888]
[ENSMUST00000137777]
[ENSMUST00000138448]
[ENSMUST00000146003]
[ENSMUST00000150042]
[ENSMUST00000152876]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107053
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132888
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137777
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138448
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146003
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150042
|
SMART Domains |
Protein: ENSMUSP00000116090 Gene: ENSMUSG00000030706
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
Pfam:Ribosomal_S10
|
91 |
186 |
2.6e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152876
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (46/47) |
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. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
Abi3bp |
C |
T |
16: 56,424,401 (GRCm39) |
T450I |
possibly damaging |
Het |
Abl1 |
A |
T |
2: 31,674,549 (GRCm39) |
T213S |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,150,318 (GRCm39) |
R1762W |
probably damaging |
Het |
Arl2 |
G |
T |
19: 6,184,707 (GRCm39) |
T182N |
probably benign |
Het |
Brd8 |
C |
G |
18: 34,747,497 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,508,822 (GRCm39) |
Y666H |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,225,707 (GRCm39) |
V3127A |
possibly damaging |
Het |
Copg1 |
G |
A |
6: 87,882,198 (GRCm39) |
A598T |
probably benign |
Het |
Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
Epha1 |
C |
A |
6: 42,341,219 (GRCm39) |
L535F |
probably damaging |
Het |
Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
Fads2b |
T |
C |
2: 85,330,548 (GRCm39) |
|
probably benign |
Het |
Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kpna1 |
A |
T |
16: 35,823,252 (GRCm39) |
T35S |
probably benign |
Het |
Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,489,495 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
Or10a3n |
C |
A |
7: 108,493,189 (GRCm39) |
V142L |
probably benign |
Het |
Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,505 (GRCm39) |
I214T |
probably benign |
Het |
Pacs2 |
T |
C |
12: 113,024,733 (GRCm39) |
S408P |
probably damaging |
Het |
Pcx |
C |
T |
19: 4,667,995 (GRCm39) |
H506Y |
probably benign |
Het |
Pla2g6 |
G |
T |
15: 79,197,296 (GRCm39) |
P93T |
probably damaging |
Het |
Pramel28 |
C |
T |
4: 143,692,356 (GRCm39) |
W215* |
probably null |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rcor1 |
A |
G |
12: 111,006,169 (GRCm39) |
|
probably benign |
Het |
Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
Sytl2 |
T |
A |
7: 90,030,700 (GRCm39) |
|
probably benign |
Het |
Tia1 |
T |
C |
6: 86,393,319 (GRCm39) |
F53S |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
Tmod1 |
A |
G |
4: 46,078,315 (GRCm39) |
N41S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,583,139 (GRCm39) |
I22585V |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
Vps39 |
C |
T |
2: 120,180,656 (GRCm39) |
R43Q |
probably benign |
Het |
Vwa5b2 |
T |
C |
16: 20,417,111 (GRCm39) |
*603Q |
probably null |
Het |
Zeb1 |
G |
A |
18: 5,772,716 (GRCm39) |
A1002T |
probably benign |
Het |
Zxdc |
A |
G |
6: 90,347,449 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Mrpl48 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01637:Mrpl48
|
APN |
7 |
100,199,739 (GRCm39) |
splice site |
probably benign |
|
IGL01838:Mrpl48
|
APN |
7 |
100,201,860 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02395:Mrpl48
|
APN |
7 |
100,195,551 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02878:Mrpl48
|
APN |
7 |
100,223,720 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0195:Mrpl48
|
UTSW |
7 |
100,195,560 (GRCm39) |
utr 3 prime |
probably benign |
|
R1498:Mrpl48
|
UTSW |
7 |
100,195,695 (GRCm39) |
utr 3 prime |
probably benign |
|
R1619:Mrpl48
|
UTSW |
7 |
100,195,482 (GRCm39) |
utr 3 prime |
probably benign |
|
R2058:Mrpl48
|
UTSW |
7 |
100,198,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R2059:Mrpl48
|
UTSW |
7 |
100,198,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R2279:Mrpl48
|
UTSW |
7 |
100,214,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R4682:Mrpl48
|
UTSW |
7 |
100,198,576 (GRCm39) |
missense |
probably damaging |
0.96 |
R4887:Mrpl48
|
UTSW |
7 |
100,195,616 (GRCm39) |
utr 3 prime |
probably benign |
|
R5225:Mrpl48
|
UTSW |
7 |
100,198,535 (GRCm39) |
missense |
probably damaging |
0.97 |
R5278:Mrpl48
|
UTSW |
7 |
100,201,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R5405:Mrpl48
|
UTSW |
7 |
100,209,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R6209:Mrpl48
|
UTSW |
7 |
100,209,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R6809:Mrpl48
|
UTSW |
7 |
100,195,574 (GRCm39) |
utr 3 prime |
probably benign |
|
R7666:Mrpl48
|
UTSW |
7 |
100,214,408 (GRCm39) |
missense |
probably benign |
|
R8518:Mrpl48
|
UTSW |
7 |
100,232,269 (GRCm39) |
start gained |
probably benign |
|
R8983:Mrpl48
|
UTSW |
7 |
100,223,702 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCGACTTTGATGGACAGCCG -3'
(R):5'- TGCCCATAAGAGTGTTAGCATCTC -3'
Sequencing Primer
(F):5'- TGATGGACAGCCGGTTGC -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
|
Posted On |
2016-08-31 |