Incidental Mutation 'R5405:Mrpl48'
ID |
428672 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrpl48
|
Ensembl Gene |
ENSMUSG00000030706 |
Gene Name |
mitochondrial ribosomal protein L48 |
Synonyms |
1810030E20Rik, D4Ertd786e, CGI-118 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.886)
|
Stock # |
R5405 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
100194986-100257508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100209000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 108
(Y108C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116090
(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 damaging
Transcript: ENSMUST00000132888
AA Change: Y10C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137777
AA Change: Y10C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138448
AA Change: Y10C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146003
AA Change: Y10C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150042
AA Change: Y108C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116090 Gene: ENSMUSG00000030706 AA Change: Y108C
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 |
unknown
Transcript: ENSMUST00000152876
AA Change: Y113C
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
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. 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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
A |
T |
6: 86,078,179 (GRCm39) |
T298S |
probably benign |
Het |
Atad2b |
G |
A |
12: 4,990,098 (GRCm39) |
R141Q |
possibly damaging |
Het |
B3glct |
A |
G |
5: 149,632,818 (GRCm39) |
Q56R |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,894,894 (GRCm39) |
Y358C |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,966,085 (GRCm39) |
E1136G |
possibly damaging |
Het |
Ceacam1 |
A |
T |
7: 25,163,290 (GRCm39) |
N314K |
probably benign |
Het |
Ces1g |
A |
T |
8: 94,032,496 (GRCm39) |
I488N |
probably benign |
Het |
Chd6 |
C |
T |
2: 160,807,310 (GRCm39) |
R1968K |
probably benign |
Het |
Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
Cyp39a1 |
C |
T |
17: 43,987,831 (GRCm39) |
A99V |
probably damaging |
Het |
Dipk1a |
C |
T |
5: 108,057,827 (GRCm39) |
V199I |
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,554,380 (GRCm39) |
S890P |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,612,018 (GRCm39) |
D620V |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,375,102 (GRCm39) |
C588* |
probably null |
Het |
Erc1 |
A |
T |
6: 119,801,905 (GRCm39) |
S37R |
probably damaging |
Het |
Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gm14443 |
T |
C |
2: 175,013,644 (GRCm39) |
I43V |
possibly damaging |
Het |
Ins2 |
C |
T |
7: 142,233,134 (GRCm39) |
R46H |
probably damaging |
Het |
Krt77 |
T |
C |
15: 101,769,523 (GRCm39) |
I413V |
probably damaging |
Het |
Lpin3 |
A |
G |
2: 160,745,849 (GRCm39) |
D660G |
probably damaging |
Het |
Mpp3 |
T |
C |
11: 101,901,047 (GRCm39) |
Q318R |
probably benign |
Het |
Mpzl2 |
T |
C |
9: 44,958,503 (GRCm39) |
S80P |
probably damaging |
Het |
Mrpl2 |
T |
C |
17: 46,960,036 (GRCm39) |
|
probably null |
Het |
Ndufaf7 |
C |
A |
17: 79,246,044 (GRCm39) |
F92L |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,115,383 (GRCm39) |
Y255H |
probably damaging |
Het |
Or6c8 |
T |
A |
10: 128,915,265 (GRCm39) |
D189V |
probably damaging |
Het |
Rec114 |
T |
C |
9: 58,567,624 (GRCm39) |
S121G |
probably benign |
Het |
Rnase10 |
A |
T |
14: 51,247,317 (GRCm39) |
I195F |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rreb1 |
A |
G |
13: 38,133,087 (GRCm39) |
E1754G |
probably damaging |
Het |
Sec31a |
G |
T |
5: 100,531,657 (GRCm39) |
C238* |
probably null |
Het |
Slc12a6 |
T |
C |
2: 112,169,724 (GRCm39) |
V337A |
probably damaging |
Het |
Slc25a37 |
A |
G |
14: 69,482,344 (GRCm39) |
V319A |
possibly damaging |
Het |
Slc26a10 |
T |
C |
10: 127,010,864 (GRCm39) |
Y456C |
probably benign |
Het |
Slc27a3 |
G |
A |
3: 90,294,382 (GRCm39) |
T463I |
probably benign |
Het |
Slc66a3 |
A |
G |
12: 17,043,315 (GRCm39) |
|
probably benign |
Het |
Stard9 |
T |
A |
2: 120,524,149 (GRCm39) |
D781E |
probably benign |
Het |
Tle1 |
T |
C |
4: 72,057,208 (GRCm39) |
|
probably benign |
Het |
Tmem229b-ps |
T |
C |
10: 53,351,325 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r71 |
A |
G |
7: 85,268,622 (GRCm39) |
D275G |
probably benign |
Het |
Wdr1 |
T |
C |
5: 38,692,543 (GRCm39) |
T121A |
probably benign |
Het |
Zdhhc19 |
C |
T |
16: 32,325,869 (GRCm39) |
R240C |
possibly damaging |
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 |
R3952:Mrpl48
|
UTSW |
7 |
100,209,130 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- ACTTAAAACCTGGGCTAGATAACT -3'
(R):5'- GGTAAACAATTTTACTTGAAAGGTTGG -3'
Sequencing Primer
(F):5'- ACCTGGGCTAGATAACTTATCAGTGG -3'
(R):5'- AGACCTGGTTAGCCTTGAAC -3'
|
Posted On |
2016-09-06 |