Incidental Mutation 'R5278:Mrpl48'
ID |
404054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrpl48
|
Ensembl Gene |
ENSMUSG00000030706 |
Gene Name |
mitochondrial ribosomal protein L48 |
Synonyms |
1810030E20Rik, D4Ertd786e, CGI-118 |
MMRRC Submission |
042865-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.886)
|
Stock # |
R5278 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
100194986-100257508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100201790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 156
(V156A)
|
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 damaging
Transcript: ENSMUST00000132888
AA Change: V58A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137777
AA Change: V58A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138448
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146003
AA Change: V58A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150042
AA Change: V156A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116090 Gene: ENSMUSG00000030706 AA Change: V156A
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 |
0.7950 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
Validation Efficiency |
98% (50/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
C |
T |
5: 35,745,500 (GRCm39) |
|
probably benign |
Het |
Acvr2b |
G |
A |
9: 119,261,555 (GRCm39) |
V383I |
probably damaging |
Het |
Akap12 |
T |
C |
10: 4,304,792 (GRCm39) |
M534T |
probably benign |
Het |
Akp3 |
G |
A |
1: 87,052,888 (GRCm39) |
E26K |
probably benign |
Het |
Alcam |
A |
G |
16: 52,094,638 (GRCm39) |
I371T |
probably benign |
Het |
Ap2a1 |
T |
C |
7: 44,552,203 (GRCm39) |
T794A |
probably benign |
Het |
Apeh |
G |
A |
9: 107,968,457 (GRCm39) |
P349S |
probably benign |
Het |
Asb7 |
G |
T |
7: 66,328,933 (GRCm39) |
Q36K |
possibly damaging |
Het |
Asl |
A |
G |
5: 130,047,672 (GRCm39) |
|
probably null |
Het |
Atp13a2 |
T |
A |
4: 140,728,129 (GRCm39) |
I574N |
probably damaging |
Het |
Bcl2l2 |
T |
A |
14: 55,122,251 (GRCm39) |
I138N |
probably damaging |
Het |
Cacna1d |
C |
T |
14: 30,074,881 (GRCm39) |
|
probably null |
Het |
Ccdc9 |
C |
T |
7: 16,012,306 (GRCm39) |
W1* |
probably null |
Het |
Cdh18 |
T |
A |
15: 23,474,244 (GRCm39) |
S705T |
probably benign |
Het |
Ces5a |
A |
T |
8: 94,252,266 (GRCm39) |
W209R |
probably damaging |
Het |
Chpf2 |
T |
A |
5: 24,793,088 (GRCm39) |
|
probably benign |
Het |
Cul9 |
T |
A |
17: 46,821,799 (GRCm39) |
H1892L |
probably damaging |
Het |
Cxcl13 |
A |
G |
5: 96,106,586 (GRCm39) |
T53A |
probably benign |
Het |
Cyp2s1 |
T |
A |
7: 25,505,309 (GRCm39) |
Y385F |
possibly damaging |
Het |
Ddx46 |
A |
G |
13: 55,823,851 (GRCm39) |
E915G |
probably damaging |
Het |
Elovl3 |
G |
A |
19: 46,122,540 (GRCm39) |
V113I |
probably benign |
Het |
Fam53c |
A |
T |
18: 34,895,671 (GRCm39) |
|
probably benign |
Het |
Fbxw15 |
A |
T |
9: 109,384,752 (GRCm39) |
F349L |
probably benign |
Het |
Fuz |
C |
T |
7: 44,545,701 (GRCm39) |
P9L |
probably benign |
Het |
Igf1r |
C |
T |
7: 67,843,166 (GRCm39) |
T759M |
possibly damaging |
Het |
Impg2 |
G |
A |
16: 56,041,880 (GRCm39) |
D175N |
probably benign |
Het |
Jade1 |
G |
T |
3: 41,543,444 (GRCm39) |
R43L |
possibly damaging |
Het |
Kntc1 |
A |
G |
5: 123,919,077 (GRCm39) |
E816G |
probably damaging |
Het |
Mettl8 |
A |
T |
2: 70,803,641 (GRCm39) |
D262E |
probably damaging |
Het |
Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,225,390 (GRCm39) |
I252V |
probably benign |
Het |
Nox4 |
T |
C |
7: 87,021,134 (GRCm39) |
W449R |
probably damaging |
Het |
Or2a52 |
T |
C |
6: 43,144,655 (GRCm39) |
L221P |
probably damaging |
Het |
Or2l5 |
A |
T |
16: 19,334,128 (GRCm39) |
L86* |
probably null |
Het |
Pank4 |
T |
C |
4: 155,056,622 (GRCm39) |
L351P |
probably damaging |
Het |
Pappa2 |
A |
T |
1: 158,609,973 (GRCm39) |
|
probably null |
Het |
Peg10 |
CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC |
CCATCAGGATGCACATCAGGATCC |
6: 4,756,442 (GRCm39) |
|
probably benign |
Het |
Polr3e |
T |
A |
7: 120,522,184 (GRCm39) |
I10K |
possibly damaging |
Het |
Prkdc |
T |
C |
16: 15,532,838 (GRCm39) |
I1489T |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sh3pxd2b |
A |
G |
11: 32,331,447 (GRCm39) |
D57G |
probably damaging |
Het |
Shank2 |
G |
A |
7: 143,622,612 (GRCm39) |
|
probably null |
Het |
Slc15a4 |
A |
T |
5: 127,694,033 (GRCm39) |
V134E |
probably damaging |
Het |
Slc49a4 |
A |
G |
16: 35,518,358 (GRCm39) |
S452P |
probably damaging |
Het |
Stxbp5l |
G |
T |
16: 37,007,016 (GRCm39) |
Q726K |
probably benign |
Het |
Tesk2 |
T |
G |
4: 116,663,133 (GRCm39) |
|
probably benign |
Het |
Tex2 |
A |
G |
11: 106,458,639 (GRCm39) |
S264P |
probably benign |
Het |
Tnik |
A |
G |
3: 28,704,209 (GRCm39) |
Q1003R |
probably damaging |
Het |
Trip12 |
C |
T |
1: 84,739,868 (GRCm39) |
R628H |
probably damaging |
Het |
Vmn2r69 |
G |
A |
7: 85,060,991 (GRCm39) |
H198Y |
probably benign |
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 |
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'- GGAATGCAGACATCATTTAAGGC -3'
(R):5'- CCGATGACCCTGGTTAAAGTG -3'
Sequencing Primer
(F):5'- TTCTCAACCTGGGAGTTGAGACC -3'
(R):5'- ACCCTGGTTAAAGTGGTGCTG -3'
|
Posted On |
2016-07-22 |