Incidental Mutation 'R1347:Mrpl44'
| ID | 156527 |
|---|
| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Mrpl44
|
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| Ensembl Gene |
ENSMUSG00000026248 |
|---|
| Gene Name | mitochondrial ribosomal protein L44 |
|---|
| Synonyms | 1810030E18Rik, 5730593H20Rik |
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| MMRRC Submission |
039412-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Essential (E-score: 1.000)
|
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| Stock # | R1347 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Not validated
|
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| Chromosome | 1 |
|---|
| Chromosomal Location | 79776018-79781445 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to A
at 79777952 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Phenylalanine to Isoleucine
at position 92
(F92I)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000027464
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027464]
[ENSMUST00000143368]
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027464
AA Change: F92I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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| 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
|
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| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189176
|
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| Coding Region Coverage |
- 1x: 98.2%
- 3x: 96.4%
- 10x: 88.6%
- 20x: 71.0%
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
G |
T |
3: 152,533,434 |
D301E |
probably damaging |
Het |
| Arpc1a |
G |
T |
5: 145,097,272 |
W150L |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,570,987 |
D646G |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,542,284 |
H383Q |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,182,749 |
T117A |
probably benign |
Het |
| Fry |
A |
T |
5: 150,495,818 |
E905V |
probably damaging |
Het |
| Glyr1 |
T |
C |
16: 5,021,339 |
D338G |
probably damaging |
Het |
| Gpd2 |
A |
T |
2: 57,357,671 |
K542M |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,111,561 |
F1679L |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,927,156 |
M427T |
probably damaging |
Het |
| Kpna1 |
T |
A |
16: 36,009,326 |
I83N |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,712,450 |
F770L |
probably damaging |
Het |
| Olfr1458 |
T |
C |
19: 13,102,690 |
I199V |
probably benign |
Het |
| Olfr444 |
A |
C |
6: 42,955,705 |
D69A |
probably damaging |
Het |
| Rbm15 |
G |
T |
3: 107,332,630 |
R151S |
possibly damaging |
Het |
| Rims3 |
G |
A |
4: 120,883,125 |
G90S |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 16,977,624 |
C1314Y |
possibly damaging |
Het |
| Serpinb6e |
C |
T |
13: 33,841,197 |
C37Y |
possibly damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,035,388 |
T248I |
probably benign |
Het |
| Tbx15 |
C |
A |
3: 99,352,111 |
Q433K |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,137,978 |
C209Y |
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,290,932 |
|
probably null |
Het |
| Zim1 |
C |
A |
7: 6,677,431 |
C411F |
probably damaging |
Het |
|
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| Other mutations in Mrpl44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Mrpl44
|
APN |
1 |
79781004 |
missense |
probably benign |
0.01 |
|
IGL02633:Mrpl44
|
APN |
1 |
79776145 |
missense |
probably benign |
0.02 |
|
R0054:Mrpl44
|
UTSW |
1 |
79779495 |
missense |
probably damaging |
1.00 |
|
R0054:Mrpl44
|
UTSW |
1 |
79779495 |
missense |
probably damaging |
1.00 |
|
R0909:Mrpl44
|
UTSW |
1 |
79779653 |
missense |
probably benign |
0.43 |
|
R1180:Mrpl44
|
UTSW |
1 |
79777960 |
missense |
probably damaging |
0.99 |
|
R1347:Mrpl44
|
UTSW |
1 |
79777952 |
missense |
probably damaging |
1.00 |
|
R1448:Mrpl44
|
UTSW |
1 |
79777960 |
missense |
probably damaging |
0.99 |
|
R3689:Mrpl44
|
UTSW |
1 |
79779649 |
nonsense |
probably null |
|
|
R3690:Mrpl44
|
UTSW |
1 |
79779649 |
nonsense |
probably null |
|
|
R4533:Mrpl44
|
UTSW |
1 |
79776254 |
missense |
possibly damaging |
0.91 |
|
R4818:Mrpl44
|
UTSW |
1 |
79780977 |
missense |
probably benign |
0.00 |
|
R4893:Mrpl44
|
UTSW |
1 |
79777865 |
missense |
probably damaging |
0.97 |
|
R6178:Mrpl44
|
UTSW |
1 |
79778178 |
missense |
possibly damaging |
0.76 |
|
X0018:Mrpl44
|
UTSW |
1 |
79778075 |
missense |
probably benign |
0.18 |
|
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| Predicted Primers |
PCR Primer
(F):5'- AGCAGAGCAGCCTAATGTGATGTG -3'
(R):5'- GGCAAGTCTGGGAATTCGTCTTCG -3'
Sequencing Primer
(F):5'- ACGGACTGCCAGTGGTTATC -3'
(R):5'- CTGGGAATTCGTCTTCGAGAAAC -3'
|
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| Posted On | 2014-02-11 |
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