Incidental Mutation 'IGL02451:Mrpl37'
| ID |
293665 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrpl37
|
| Ensembl Gene |
ENSMUSG00000028622 |
| Gene Name |
mitochondrial ribosomal protein L37 |
| Synonyms |
2300004O14Rik, Rpml2, MRP-L2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
IGL02451
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106913071-106924063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106923839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 52
(I52F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030364]
[ENSMUST00000030365]
[ENSMUST00000106756]
[ENSMUST00000106758]
[ENSMUST00000106760]
[ENSMUST00000145324]
[ENSMUST00000154283]
[ENSMUST00000149453]
[ENSMUST00000137269]
|
| AlphaFold |
Q921S7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030364
|
| SMART Domains |
Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Oxidored-like
|
15 |
56 |
1e-10 |
PFAM |
|
Pfam:FAD_binding_6
|
80 |
156 |
2.3e-11 |
PFAM |
|
Pfam:NAD_binding_1
|
152 |
266 |
1.8e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030365
AA Change: I52F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030365
Gene: ENSMUSG00000028622
AA Change: I52F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Pfam:PDCD9
|
292 |
420 |
6.4e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106756
|
| SMART Domains |
Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_6
|
20 |
117 |
4.7e-23 |
PFAM |
|
Pfam:NAD_binding_1
|
127 |
241 |
3.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106758
|
| SMART Domains |
Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxidored-like
|
10 |
55 |
1.7e-15 |
PFAM |
|
Pfam:FAD_binding_6
|
80 |
177 |
8.2e-25 |
PFAM |
|
Pfam:NAD_binding_1
|
187 |
301 |
8.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106760
|
| SMART Domains |
Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Oxidored-like
|
15 |
56 |
2.5e-14 |
PFAM |
|
Pfam:FAD_binding_6
|
80 |
156 |
3.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156406
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126207
|
| SMART Domains |
Protein: ENSMUSP00000116114
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxidored-like
|
4 |
49 |
1.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145324
|
| SMART Domains |
Protein: ENSMUSP00000122502
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Oxidored-like
|
14 |
56 |
3.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154283
|
| SMART Domains |
Protein: ENSMUSP00000119366
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Oxidored-like
|
14 |
56 |
4.5e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149453
|
| SMART Domains |
Protein: ENSMUSP00000121581
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Oxidored-like
|
14 |
56 |
5e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137269
|
| SMART Domains |
Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_6
|
13 |
110 |
7.3e-24 |
PFAM |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
G |
5: 138,561,809 (GRCm39) |
T126P |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,782,563 (GRCm39) |
|
probably benign |
Het |
| B430305J03Rik |
A |
G |
3: 61,271,562 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,664,741 (GRCm39) |
F47L |
possibly damaging |
Het |
| Bcl2l14 |
G |
T |
6: 134,400,804 (GRCm39) |
G75V |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,694,901 (GRCm39) |
H4R |
probably benign |
Het |
| Champ1 |
C |
A |
8: 13,928,739 (GRCm39) |
P299Q |
probably damaging |
Het |
| Cimap3 |
T |
A |
3: 105,921,820 (GRCm39) |
E34D |
probably benign |
Het |
| Cldnd2 |
A |
G |
7: 43,091,082 (GRCm39) |
K5E |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,642,631 (GRCm39) |
L401* |
probably null |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,412,315 (GRCm39) |
L298H |
probably damaging |
Het |
| Git1 |
T |
C |
11: 77,391,513 (GRCm39) |
C222R |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,076,635 (GRCm39) |
T189A |
probably damaging |
Het |
| Hgfac |
T |
G |
5: 35,201,158 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
A |
4: 119,991,162 (GRCm39) |
S2221T |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,604 (GRCm39) |
Y124H |
probably damaging |
Het |
| Il1a |
T |
C |
2: 129,148,575 (GRCm39) |
E45G |
probably damaging |
Het |
| Itga11 |
T |
A |
9: 62,642,635 (GRCm39) |
I186N |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Mapk13 |
A |
G |
17: 28,995,387 (GRCm39) |
T203A |
probably damaging |
Het |
| Mtrex |
C |
T |
13: 113,027,881 (GRCm39) |
V660M |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,069,654 (GRCm39) |
F417L |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,576 (GRCm39) |
S49R |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,702 (GRCm39) |
Q231* |
probably null |
Het |
| Osbpl1a |
T |
C |
18: 13,047,550 (GRCm39) |
|
probably benign |
Het |
| Parg |
C |
T |
14: 31,964,186 (GRCm39) |
T112M |
probably damaging |
Het |
| Pou6f1 |
T |
C |
15: 100,477,821 (GRCm39) |
T166A |
possibly damaging |
Het |
| Prtg |
A |
G |
9: 72,764,281 (GRCm39) |
I585V |
possibly damaging |
Het |
| Ptpru |
T |
G |
4: 131,504,086 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
C |
7: 100,285,970 (GRCm39) |
|
probably null |
Het |
| Rnf207 |
C |
T |
4: 152,396,869 (GRCm39) |
R425H |
probably benign |
Het |
| Rusf1 |
A |
G |
7: 127,875,582 (GRCm39) |
L257P |
probably damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,420,912 (GRCm39) |
M468V |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,441 (GRCm39) |
H108R |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,163,930 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,065,014 (GRCm39) |
F2095Y |
probably null |
Het |
| Sspo |
A |
T |
6: 48,437,237 (GRCm39) |
|
probably benign |
Het |
| Tbx19 |
A |
G |
1: 164,967,740 (GRCm39) |
S336P |
probably benign |
Het |
| Tmem101 |
T |
A |
11: 102,044,119 (GRCm39) |
D256V |
probably damaging |
Het |
| Trbv20 |
T |
G |
6: 41,165,210 (GRCm39) |
L2V |
unknown |
Het |
| Trpc7 |
A |
G |
13: 56,970,274 (GRCm39) |
S382P |
probably damaging |
Het |
| Tut4 |
C |
A |
4: 108,386,473 (GRCm39) |
Y1114* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,040,095 (GRCm39) |
T91A |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,788 (GRCm39) |
R721* |
probably null |
Het |
| Vmn2r94 |
T |
A |
17: 18,478,453 (GRCm39) |
Y98F |
possibly damaging |
Het |
| Zfp532 |
A |
G |
18: 65,756,672 (GRCm39) |
R202G |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,787,601 (GRCm39) |
S256P |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,792,214 (GRCm39) |
I2266T |
probably damaging |
Het |
|
| Other mutations in Mrpl37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02292:Mrpl37
|
APN |
4 |
106,917,729 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0088:Mrpl37
|
UTSW |
4 |
106,921,621 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0271:Mrpl37
|
UTSW |
4 |
106,923,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1445:Mrpl37
|
UTSW |
4 |
106,921,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2566:Mrpl37
|
UTSW |
4 |
106,921,690 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4751:Mrpl37
|
UTSW |
4 |
106,914,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Mrpl37
|
UTSW |
4 |
106,921,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5664:Mrpl37
|
UTSW |
4 |
106,921,588 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5870:Mrpl37
|
UTSW |
4 |
106,923,919 (GRCm39) |
missense |
probably benign |
|
|
R5996:Mrpl37
|
UTSW |
4 |
106,923,704 (GRCm39) |
missense |
probably benign |
|
|
R6163:Mrpl37
|
UTSW |
4 |
106,921,793 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7287:Mrpl37
|
UTSW |
4 |
106,917,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Mrpl37
|
UTSW |
4 |
106,921,611 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9334:Mrpl37
|
UTSW |
4 |
106,921,605 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0067:Mrpl37
|
UTSW |
4 |
106,923,676 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Mrpl37
|
UTSW |
4 |
106,914,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation