Incidental Mutation 'R1347:Mrpl44'
| ID |
156527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl44
|
| Ensembl Gene |
ENSMUSG00000026248 |
| Gene Name |
mitochondrial ribosomal protein L44 |
| Synonyms |
5730593H20Rik, 1810030E18Rik |
| MMRRC Submission |
039412-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1347 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
79753735-79759162 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79755669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 92
(F92I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027464]
[ENSMUST00000143368]
|
| AlphaFold |
Q9CY73 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027464
AA Change: F92I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027464
Gene: ENSMUSG00000026248
AA Change: F92I
| 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: 98.2%
- 3x: 96.4%
- 10x: 88.6%
- 20x: 71.0%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Arpc1a |
G |
T |
5: 145,034,082 (GRCm39) |
W150L |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,350 (GRCm39) |
D646G |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,589,070 (GRCm39) |
H383Q |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,011 (GRCm39) |
T117A |
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,283 (GRCm39) |
E905V |
probably damaging |
Het |
| Glyr1 |
T |
C |
16: 4,839,203 (GRCm39) |
D338G |
probably damaging |
Het |
| Gpd2 |
A |
T |
2: 57,247,683 (GRCm39) |
K542M |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,330,535 (GRCm39) |
F1679L |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,834,438 (GRCm39) |
M427T |
probably damaging |
Het |
| Kpna1 |
T |
A |
16: 35,829,696 (GRCm39) |
I83N |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,019,445 (GRCm39) |
F770L |
probably damaging |
Het |
| Or2a56 |
A |
C |
6: 42,932,639 (GRCm39) |
D69A |
probably damaging |
Het |
| Or5b105 |
T |
C |
19: 13,080,054 (GRCm39) |
I199V |
probably benign |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rims3 |
G |
A |
4: 120,740,322 (GRCm39) |
G90S |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 17,027,625 (GRCm39) |
C1314Y |
possibly damaging |
Het |
| Serpinb6e |
C |
T |
13: 34,025,180 (GRCm39) |
C37Y |
possibly damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,202 (GRCm39) |
T248I |
probably benign |
Het |
| Tbx15 |
C |
A |
3: 99,259,427 (GRCm39) |
Q433K |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Zim1 |
C |
A |
7: 6,680,430 (GRCm39) |
C411F |
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 |
|
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 |
|
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 |
|
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'- AGCAGAGCAGCCTAATGTGATGTG -3'
(R):5'- GGCAAGTCTGGGAATTCGTCTTCG -3'
Sequencing Primer
(F):5'- ACGGACTGCCAGTGGTTATC -3'
(R):5'- CTGGGAATTCGTCTTCGAGAAAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation