Incidental Mutation 'IGL02633:Mrpl44'
ID |
301385 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mrpl44
|
Ensembl Gene |
ENSMUSG00000026248 |
Gene Name |
mitochondrial ribosomal protein L44 |
Synonyms |
5730593H20Rik, 1810030E18Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02633
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
79753735-79759162 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79753862 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 5
(V5I)
|
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: V5I
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000027464 Gene: ENSMUSG00000026248 AA Change: V5I
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abitram |
T |
C |
4: 56,806,131 (GRCm39) |
V181A |
possibly damaging |
Het |
Aff4 |
T |
C |
11: 53,300,198 (GRCm39) |
|
probably benign |
Het |
Ap1g2 |
T |
C |
14: 55,338,104 (GRCm39) |
|
probably null |
Het |
Aspn |
A |
T |
13: 49,705,363 (GRCm39) |
Y75F |
possibly damaging |
Het |
Atm |
G |
A |
9: 53,359,453 (GRCm39) |
T2783I |
probably damaging |
Het |
Cacnb1 |
A |
T |
11: 97,913,199 (GRCm39) |
I18N |
probably damaging |
Het |
Casr |
T |
C |
16: 36,336,017 (GRCm39) |
I97M |
probably damaging |
Het |
Cnga2 |
T |
A |
X: 71,048,655 (GRCm39) |
|
probably benign |
Het |
Coasy |
T |
A |
11: 100,976,147 (GRCm39) |
L425Q |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,162,396 (GRCm39) |
T25A |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,006,772 (GRCm39) |
Y2181C |
probably benign |
Het |
Efna3 |
A |
C |
3: 89,222,749 (GRCm39) |
S230A |
probably damaging |
Het |
Eng |
A |
G |
2: 32,563,286 (GRCm39) |
I281V |
probably damaging |
Het |
Erlec1 |
T |
A |
11: 30,898,430 (GRCm39) |
R14* |
probably null |
Het |
Gbp9 |
C |
T |
5: 105,231,431 (GRCm39) |
|
probably benign |
Het |
Gzmg |
T |
C |
14: 56,394,160 (GRCm39) |
M245V |
probably damaging |
Het |
Kdm5a |
A |
G |
6: 120,341,680 (GRCm39) |
I36V |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,389,095 (GRCm39) |
V79A |
probably damaging |
Het |
Limd1 |
A |
T |
9: 123,308,987 (GRCm39) |
|
probably benign |
Het |
Lmo4 |
T |
C |
3: 143,899,683 (GRCm39) |
S155G |
probably benign |
Het |
Mrpl49 |
T |
C |
19: 6,104,931 (GRCm39) |
T146A |
possibly damaging |
Het |
Mrpl58 |
T |
C |
11: 115,301,457 (GRCm39) |
|
probably benign |
Het |
Nab1 |
C |
T |
1: 52,529,292 (GRCm39) |
V202M |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,527,997 (GRCm39) |
M2229L |
probably benign |
Het |
Notch2 |
C |
T |
3: 98,024,013 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
G |
5: 24,897,931 (GRCm39) |
I106V |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,172,117 (GRCm39) |
S595T |
probably benign |
Het |
Rbfox1 |
T |
A |
16: 7,110,078 (GRCm39) |
S165R |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,174,507 (GRCm39) |
T1257I |
probably damaging |
Het |
Smarcc2 |
T |
C |
10: 128,305,556 (GRCm39) |
S327P |
probably damaging |
Het |
Tdpoz1 |
T |
C |
3: 93,578,056 (GRCm39) |
M243V |
probably benign |
Het |
Ttn |
G |
T |
2: 76,549,289 (GRCm39) |
T23469K |
probably damaging |
Het |
Ube2u |
T |
C |
4: 100,339,971 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,208,462 (GRCm39) |
Y836H |
probably damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,488,728 (GRCm39) |
Y101H |
probably benign |
Het |
Vps13a |
T |
A |
19: 16,697,772 (GRCm39) |
Q781L |
possibly damaging |
Het |
Vwce |
G |
A |
19: 10,625,858 (GRCm39) |
V457M |
probably damaging |
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 |
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 |
R0909:Mrpl44
|
UTSW |
1 |
79,757,370 (GRCm39) |
missense |
probably benign |
0.43 |
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 |
|
Posted On |
2015-04-16 |