Incidental Mutation 'R4682:Mrpl48'
| ID |
350082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl48
|
| Ensembl Gene |
ENSMUSG00000030706 |
| Gene Name |
mitochondrial ribosomal protein L48 |
| Synonyms |
1810030E20Rik, D4Ertd786e, CGI-118 |
| MMRRC Submission |
041934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.886)
|
| Stock # |
R4682 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
100194986-100257508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100198576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 192
(D192V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064334]
[ENSMUST00000107053]
[ENSMUST00000132888]
[ENSMUST00000137777]
[ENSMUST00000138448]
[ENSMUST00000146003]
[ENSMUST00000150042]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064334
|
| SMART Domains |
Protein: ENSMUSP00000067290
Gene: ENSMUSG00000030706
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
76 |
N/A |
INTRINSIC |
|
| 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 |
possibly damaging
Transcript: ENSMUST00000146003
AA Change: D94V
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150042
AA Change: D192V
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116090
Gene: ENSMUSG00000030706
AA Change: D192V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S10
|
91 |
186 |
2.6e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.0966 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (45/48) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,505,925 (GRCm39) |
V637A |
probably benign |
Het |
| Aurkc |
G |
A |
7: 6,998,538 (GRCm39) |
V33M |
probably null |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,898,961 (GRCm39) |
S810R |
probably benign |
Het |
| Dpm2 |
C |
T |
2: 32,462,290 (GRCm39) |
|
probably benign |
Het |
| Fgb |
A |
T |
3: 82,950,572 (GRCm39) |
F394Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,346,219 (GRCm39) |
Y1576C |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,815,152 (GRCm39) |
M1V |
probably null |
Het |
| Grhl1 |
T |
G |
12: 24,658,432 (GRCm39) |
V359G |
probably benign |
Het |
| Hdac5 |
T |
C |
11: 102,097,456 (GRCm39) |
S158G |
probably null |
Het |
| Hdgfl1 |
T |
C |
13: 26,953,230 (GRCm39) |
E281G |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
| Inpp1 |
T |
C |
1: 52,833,760 (GRCm39) |
N112S |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,659,800 (GRCm39) |
A279S |
probably damaging |
Het |
| Mad1l1 |
A |
T |
5: 140,286,007 (GRCm39) |
M296K |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,179,097 (GRCm39) |
|
probably null |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,030,279 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,108,879 (GRCm39) |
T731A |
noncoding transcript |
Het |
| Or4d6 |
T |
C |
19: 12,086,049 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,977,086 (GRCm39) |
D128G |
possibly damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,905,477 (GRCm39) |
T11A |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,143,791 (GRCm39) |
Y112N |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,377,362 (GRCm39) |
V442E |
probably benign |
Het |
| Slc36a4 |
C |
A |
9: 15,638,144 (GRCm39) |
S190* |
probably null |
Het |
| Slc46a1 |
A |
G |
11: 78,359,502 (GRCm39) |
K378R |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,150 (GRCm39) |
V267A |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,034,666 (GRCm39) |
S533T |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,111 (GRCm39) |
M103K |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,006 (GRCm39) |
Y429* |
probably null |
Het |
| Traf7 |
T |
C |
17: 24,732,348 (GRCm39) |
K159E |
probably damaging |
Het |
| Zfp111 |
T |
G |
7: 23,898,563 (GRCm39) |
K349N |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,376 (GRCm39) |
Y1114C |
probably 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 |
|
|
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'- GAAGTGGTAACTGGCAAGCC -3'
(R):5'- TCTCAGCACACTAAGAGGAAATGTG -3'
Sequencing Primer
(F):5'- TAACTGGCAAGCCCGGGG -3'
(R):5'- CACTAAGAGGAAATGTGCTTTGGCC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation