Incidental Mutation 'R0909:Mrpl44'
ID |
83412 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrpl44
|
Ensembl Gene |
ENSMUSG00000026248 |
Gene Name |
mitochondrial ribosomal protein L44 |
Synonyms |
5730593H20Rik, 1810030E18Rik |
MMRRC Submission |
039067-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0909 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
79753735-79759162 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79757370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 272
(V272I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027464]
[ENSMUST00000143368]
|
AlphaFold |
Q9CY73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027464
AA Change: V272I
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027464 Gene: ENSMUSG00000026248 AA Change: V272I
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
low complexity region
|
45 |
60 |
N/A |
INTRINSIC |
PDB:4CE4|H
|
67 |
333 |
1e-160 |
PDB |
SCOP:d1jfza_
|
72 |
224 |
5e-23 |
SMART |
Blast:RIBOc
|
86 |
228 |
2e-90 |
BLAST |
Blast:DSRM
|
237 |
288 |
6e-8 |
BLAST |
SCOP:d1di2a_
|
237 |
304 |
2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143368
|
SMART Domains |
Protein: ENSMUSP00000123303 Gene: ENSMUSG00000073643
Domain | Start | End | E-Value | Type |
WD40
|
13 |
52 |
4.95e-4 |
SMART |
WD40
|
56 |
96 |
5.5e1 |
SMART |
WD40
|
103 |
142 |
1.19e0 |
SMART |
Blast:WD40
|
145 |
182 |
6e-20 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189176
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.5%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
T |
A |
19: 3,765,788 (GRCm39) |
M21K |
probably benign |
Het |
Ap3s2 |
T |
C |
7: 79,530,266 (GRCm39) |
N183S |
probably benign |
Het |
Cd109 |
A |
G |
9: 78,543,755 (GRCm39) |
I100V |
probably benign |
Het |
Cep170b |
A |
G |
12: 112,698,473 (GRCm39) |
K77R |
probably null |
Het |
Chmp5 |
C |
A |
4: 40,960,968 (GRCm39) |
N202K |
probably benign |
Het |
Cnbd1 |
A |
T |
4: 19,122,444 (GRCm39) |
L15I |
probably benign |
Het |
Ehmt2 |
T |
C |
17: 35,125,480 (GRCm39) |
V542A |
possibly damaging |
Het |
Exosc9 |
A |
T |
3: 36,608,853 (GRCm39) |
I151F |
probably damaging |
Het |
Eya2 |
A |
G |
2: 165,596,413 (GRCm39) |
N308S |
probably benign |
Het |
Fbxw21 |
C |
A |
9: 108,985,476 (GRCm39) |
A101S |
possibly damaging |
Het |
Frem3 |
A |
C |
8: 81,390,035 (GRCm39) |
N1762T |
probably benign |
Het |
H2-DMb2 |
C |
A |
17: 34,367,783 (GRCm39) |
T68N |
probably benign |
Het |
Hbs1l |
A |
G |
10: 21,183,637 (GRCm39) |
E126G |
probably benign |
Het |
Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
Msh4 |
G |
A |
3: 153,569,141 (GRCm39) |
L723F |
probably benign |
Het |
Nemf |
T |
A |
12: 69,388,384 (GRCm39) |
D329V |
probably damaging |
Het |
Noxa1 |
A |
T |
2: 24,981,806 (GRCm39) |
L99Q |
probably damaging |
Het |
Nr6a1 |
A |
T |
2: 38,775,218 (GRCm39) |
D44E |
probably benign |
Het |
Obscn |
T |
C |
11: 58,965,890 (GRCm39) |
D3131G |
probably damaging |
Het |
Or10a5 |
T |
C |
7: 106,635,401 (GRCm39) |
I13T |
probably benign |
Het |
Or10c1 |
T |
G |
17: 37,521,809 (GRCm39) |
I312L |
probably benign |
Het |
Or52p2 |
A |
T |
7: 102,237,654 (GRCm39) |
C99S |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,402,279 (GRCm39) |
|
probably null |
Het |
Rbsn |
G |
A |
6: 92,166,791 (GRCm39) |
Q618* |
probably null |
Het |
Rccd1 |
A |
C |
7: 79,968,799 (GRCm39) |
|
probably null |
Het |
Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
Socs5 |
T |
A |
17: 87,441,201 (GRCm39) |
L47Q |
probably benign |
Het |
Ttc16 |
T |
C |
2: 32,652,880 (GRCm39) |
T593A |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,851,271 (GRCm39) |
I748V |
probably damaging |
Het |
Vipas39 |
T |
C |
12: 87,288,105 (GRCm39) |
D435G |
probably benign |
Het |
Vmn2r69 |
C |
T |
7: 85,055,873 (GRCm39) |
G755D |
probably benign |
Het |
Vsnl1 |
A |
G |
12: 11,376,372 (GRCm39) |
F171S |
probably damaging |
Het |
Wbp2nl |
G |
A |
15: 82,198,275 (GRCm39) |
A271T |
probably benign |
Het |
|
Other mutations in Mrpl44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00327:Mrpl44
|
APN |
1 |
79,758,721 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02633:Mrpl44
|
APN |
1 |
79,753,862 (GRCm39) |
missense |
probably benign |
0.02 |
R0054:Mrpl44
|
UTSW |
1 |
79,757,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Mrpl44
|
UTSW |
1 |
79,757,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R1180:Mrpl44
|
UTSW |
1 |
79,755,677 (GRCm39) |
missense |
probably damaging |
0.99 |
R1347:Mrpl44
|
UTSW |
1 |
79,755,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R1347:Mrpl44
|
UTSW |
1 |
79,755,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R1448:Mrpl44
|
UTSW |
1 |
79,755,677 (GRCm39) |
missense |
probably damaging |
0.99 |
R3689:Mrpl44
|
UTSW |
1 |
79,757,366 (GRCm39) |
nonsense |
probably null |
|
R3690:Mrpl44
|
UTSW |
1 |
79,757,366 (GRCm39) |
nonsense |
probably null |
|
R4533:Mrpl44
|
UTSW |
1 |
79,753,971 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4818:Mrpl44
|
UTSW |
1 |
79,758,694 (GRCm39) |
missense |
probably benign |
0.00 |
R4893:Mrpl44
|
UTSW |
1 |
79,755,582 (GRCm39) |
missense |
probably damaging |
0.97 |
R6178:Mrpl44
|
UTSW |
1 |
79,755,895 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8713:Mrpl44
|
UTSW |
1 |
79,755,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R8795:Mrpl44
|
UTSW |
1 |
79,753,974 (GRCm39) |
missense |
probably damaging |
0.99 |
X0018:Mrpl44
|
UTSW |
1 |
79,755,792 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCGAAAAGTTTCAGATTCCGAGCAT -3'
(R):5'- AGATAATGACCCTATCCACCCTGCC -3'
Sequencing Primer
(F):5'- CAGATTCCGAGCATTTTGGATTTTC -3'
(R):5'- ctgcttgcctccacctc -3'
|
Posted On |
2013-11-08 |