Incidental Mutation 'R2329:Mrpl38'
| ID |
245810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl38
|
| Ensembl Gene |
ENSMUSG00000020775 |
| Gene Name |
mitochondrial ribosomal protein L38 |
| Synonyms |
Rpml3, 1110036N21Rik, 4733401F03Rik, MRP-L3 |
| MMRRC Submission |
040320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R2329 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116022643-116029694 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116022845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 373
(H373L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067632]
[ENSMUST00000106439]
[ENSMUST00000106440]
|
| AlphaFold |
Q8K2M0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067632
|
| SMART Domains |
Protein: ENSMUSP00000063410
Gene: ENSMUSG00000054517
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
13 |
51 |
2.47e-9 |
SMART |
|
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
Blast:BBOX
|
94 |
132 |
3e-10 |
BLAST |
|
coiled coil region
|
140 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
298 |
N/A |
INTRINSIC |
|
PRY
|
333 |
383 |
3.67e-3 |
SMART |
|
Pfam:SPRY
|
386 |
505 |
1.5e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106439
AA Change: H373L
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102047
Gene: ENSMUSG00000020775
AA Change: H373L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
67 |
N/A |
INTRINSIC |
|
Pfam:PBP
|
183 |
313 |
3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106440
|
| SMART Domains |
Protein: ENSMUSP00000102048
Gene: ENSMUSG00000054517
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
13 |
51 |
2.47e-9 |
SMART |
|
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
Blast:BBOX
|
94 |
132 |
2e-10 |
BLAST |
|
coiled coil region
|
140 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
298 |
N/A |
INTRINSIC |
|
PRY
|
333 |
383 |
3.67e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145655
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154061
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| 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 |
|---|
| 2210408I21Rik |
A |
C |
13: 77,451,444 (GRCm39) |
S843R |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,813,781 (GRCm39) |
R795S |
probably damaging |
Het |
| Adora2a |
T |
A |
10: 75,162,017 (GRCm39) |
V52E |
probably damaging |
Het |
| Amph |
T |
A |
13: 19,323,520 (GRCm39) |
L594Q |
probably benign |
Het |
| Batf3 |
A |
T |
1: 190,840,646 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
C |
T |
5: 21,513,610 (GRCm39) |
|
probably null |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,862 (GRCm39) |
T123A |
possibly damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,834 (GRCm39) |
T1190A |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,459,044 (GRCm39) |
Q298K |
possibly damaging |
Het |
| Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
C |
T |
15: 83,834,249 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,710 (GRCm39) |
M610I |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,356,933 (GRCm39) |
D38G |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,041,110 (GRCm39) |
T128A |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,558,301 (GRCm39) |
V340M |
probably damaging |
Het |
| Gm19684 |
T |
A |
17: 36,439,345 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
T |
A |
6: 42,223,848 (GRCm39) |
D86E |
possibly damaging |
Het |
| Hus1 |
A |
G |
11: 8,957,492 (GRCm39) |
|
probably null |
Het |
| Kbtbd8 |
T |
C |
6: 95,103,761 (GRCm39) |
I547T |
probably benign |
Het |
| Nostrin |
A |
T |
2: 68,991,438 (GRCm39) |
T144S |
probably damaging |
Het |
| Prl8a6 |
T |
C |
13: 27,621,050 (GRCm39) |
H60R |
probably benign |
Het |
| Ros1 |
A |
G |
10: 52,038,983 (GRCm39) |
I329T |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,286,492 (GRCm39) |
Y107* |
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc34a3 |
T |
C |
2: 25,119,422 (GRCm39) |
T483A |
possibly damaging |
Het |
| Slc35c1 |
A |
T |
2: 92,289,040 (GRCm39) |
Y155* |
probably null |
Het |
| Susd1 |
T |
C |
4: 59,379,715 (GRCm39) |
D304G |
possibly damaging |
Het |
| Taf5 |
C |
T |
19: 47,063,563 (GRCm39) |
S371L |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,069 (GRCm39) |
T2362A |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,599,786 (GRCm39) |
P19102S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,608,412 (GRCm39) |
V17837A |
probably damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
C |
T |
9: 121,101,953 (GRCm39) |
E42K |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,387 (GRCm39) |
L44F |
probably damaging |
Het |
| Zfp932 |
A |
T |
5: 110,157,406 (GRCm39) |
H368L |
probably benign |
Het |
|
| Other mutations in Mrpl38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01834:Mrpl38
|
APN |
11 |
116,026,140 (GRCm39) |
nonsense |
probably null |
|
|
PIT4445001:Mrpl38
|
UTSW |
11 |
116,023,384 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0523:Mrpl38
|
UTSW |
11 |
116,022,844 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1681:Mrpl38
|
UTSW |
11 |
116,029,255 (GRCm39) |
splice site |
probably benign |
|
|
R2209:Mrpl38
|
UTSW |
11 |
116,029,288 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4617:Mrpl38
|
UTSW |
11 |
116,023,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4700:Mrpl38
|
UTSW |
11 |
116,025,978 (GRCm39) |
unclassified |
probably benign |
|
|
R4871:Mrpl38
|
UTSW |
11 |
116,025,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5293:Mrpl38
|
UTSW |
11 |
116,023,599 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7014:Mrpl38
|
UTSW |
11 |
116,025,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Mrpl38
|
UTSW |
11 |
116,029,396 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7646:Mrpl38
|
UTSW |
11 |
116,023,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7701:Mrpl38
|
UTSW |
11 |
116,026,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9420:Mrpl38
|
UTSW |
11 |
116,023,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Mrpl38
|
UTSW |
11 |
116,025,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Mrpl38
|
UTSW |
11 |
116,023,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTAAAAGGGTCTGGGTGC -3'
(R):5'- AAAGTCCCTGGCAGAACTCC -3'
Sequencing Primer
(F):5'- CCCGAAAGTGAAGACATATTGGCATC -3'
(R):5'- TGGCAGAACTCCAGCCTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation