Incidental Mutation 'IGL01834:Mrpl38'
| ID |
154891 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrpl38
|
| Ensembl Gene |
ENSMUSG00000020775 |
| Gene Name |
mitochondrial ribosomal protein L38 |
| Synonyms |
Rpml3, 1110036N21Rik, 4733401F03Rik, MRP-L3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
IGL01834
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116022643-116029694 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 116026140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 87
(K87*)
|
| 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 |
probably null
Transcript: ENSMUST00000106439
AA Change: K87*
|
| SMART Domains |
Protein: ENSMUSP00000102047
Gene: ENSMUSG00000020775
AA Change: K87*
| 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: ENSMUST00000133159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145655
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,348,183 (GRCm39) |
I634V |
possibly damaging |
Het |
| Atp13a4 |
T |
G |
16: 29,234,595 (GRCm39) |
|
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,489 (GRCm39) |
Q243L |
probably benign |
Het |
| C2cd6 |
G |
A |
1: 59,036,604 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,137,251 (GRCm39) |
|
probably null |
Het |
| Cd2ap |
T |
A |
17: 43,137,252 (GRCm39) |
|
probably null |
Het |
| Cd86 |
G |
A |
16: 36,427,481 (GRCm39) |
R283W |
probably benign |
Het |
| CK137956 |
T |
A |
4: 127,840,442 (GRCm39) |
K421N |
probably damaging |
Het |
| Coro2b |
G |
A |
9: 62,338,639 (GRCm39) |
T193I |
possibly damaging |
Het |
| Dido1 |
G |
A |
2: 180,325,824 (GRCm39) |
|
probably benign |
Het |
| Fas |
A |
G |
19: 34,296,003 (GRCm39) |
T149A |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,273,468 (GRCm39) |
I121F |
probably damaging |
Het |
| Hes3 |
C |
T |
4: 152,371,557 (GRCm39) |
A106T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,105 (GRCm39) |
Y253H |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,802,731 (GRCm39) |
|
probably null |
Het |
| Klhl12 |
C |
A |
1: 134,417,158 (GRCm39) |
R557S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,600,453 (GRCm39) |
T315A |
probably benign |
Het |
| Mchr1 |
A |
G |
15: 81,122,066 (GRCm39) |
Y272C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,538,071 (GRCm39) |
I1202V |
probably benign |
Het |
| Msh6 |
A |
G |
17: 88,293,140 (GRCm39) |
T632A |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,807,901 (GRCm39) |
H1630Q |
possibly damaging |
Het |
| Myo9b |
T |
C |
8: 71,808,962 (GRCm39) |
I1767T |
probably damaging |
Het |
| Naprt |
A |
G |
15: 75,765,648 (GRCm39) |
F92S |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,668 (GRCm39) |
I11N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,860 (GRCm39) |
Y291C |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,556,564 (GRCm39) |
T306A |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,711,279 (GRCm39) |
F12S |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,692 (GRCm39) |
N613Y |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,925,446 (GRCm39) |
I731T |
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,046,832 (GRCm39) |
T465I |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,454,773 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,610,311 (GRCm39) |
I607L |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,720,073 (GRCm39) |
|
probably benign |
Het |
| Srek1 |
C |
A |
13: 103,885,293 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,701,147 (GRCm39) |
T377A |
possibly damaging |
Het |
| Sympk |
G |
T |
7: 18,777,360 (GRCm39) |
A537S |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,739,898 (GRCm39) |
S518P |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,523,475 (GRCm39) |
K45E |
probably benign |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,554 (GRCm39) |
F124L |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,061,576 (GRCm39) |
Y133H |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,354 (GRCm39) |
E578D |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,567,133 (GRCm39) |
|
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,811,371 (GRCm39) |
N510D |
probably benign |
Het |
|
| Other mutations in Mrpl38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2329:Mrpl38
|
UTSW |
11 |
116,022,845 (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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation