Incidental Mutation 'IGL02484:Mrpl22'
| ID |
295363 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrpl22
|
| Ensembl Gene |
ENSMUSG00000020514 |
| Gene Name |
mitochondrial ribosomal protein L22 |
| Synonyms |
HSPC158, E030011D16Rik, Rpml25, MRP-L25 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
58062487-58070391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58063888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 36
(S36N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020820]
[ENSMUST00000035604]
[ENSMUST00000102711]
[ENSMUST00000172035]
|
| AlphaFold |
Q8BU88 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020820
AA Change: S36N
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020820
Gene: ENSMUSG00000020514
AA Change: S36N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L22
|
70 |
173 |
6.8e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035604
|
| SMART Domains |
Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
53 |
95 |
1.47e-6 |
SMART |
|
WD40
|
98 |
138 |
6.19e-1 |
SMART |
|
WD40
|
141 |
180 |
1.54e0 |
SMART |
|
WD40
|
184 |
255 |
2.45e-8 |
SMART |
|
WD40
|
280 |
312 |
1.42e2 |
SMART |
|
WD40
|
316 |
365 |
1.99e0 |
SMART |
|
WD40
|
368 |
408 |
5.15e-2 |
SMART |
|
WD40
|
415 |
455 |
8.49e-3 |
SMART |
|
WD40
|
460 |
511 |
8.84e1 |
SMART |
|
WD40
|
529 |
564 |
4.28e0 |
SMART |
|
WD40
|
567 |
613 |
2.24e-2 |
SMART |
|
WD40
|
628 |
668 |
2.2e-10 |
SMART |
|
WD40
|
671 |
711 |
2.31e-4 |
SMART |
|
low complexity region
|
731 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
1064 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102711
|
| SMART Domains |
Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
53 |
95 |
1.47e-6 |
SMART |
|
WD40
|
98 |
138 |
6.19e-1 |
SMART |
|
WD40
|
141 |
180 |
1.54e0 |
SMART |
|
WD40
|
184 |
255 |
2.45e-8 |
SMART |
|
WD40
|
280 |
312 |
1.42e2 |
SMART |
|
WD40
|
316 |
365 |
1.99e0 |
SMART |
|
WD40
|
368 |
408 |
5.15e-2 |
SMART |
|
WD40
|
415 |
455 |
8.49e-3 |
SMART |
|
WD40
|
460 |
511 |
8.84e1 |
SMART |
|
WD40
|
529 |
564 |
4.28e0 |
SMART |
|
WD40
|
567 |
613 |
2.24e-2 |
SMART |
|
WD40
|
628 |
668 |
2.2e-10 |
SMART |
|
WD40
|
671 |
711 |
2.31e-4 |
SMART |
|
low complexity region
|
731 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1083 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140997
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172035
|
| SMART Domains |
Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
53 |
95 |
1.47e-6 |
SMART |
|
WD40
|
98 |
138 |
6.19e-1 |
SMART |
|
WD40
|
141 |
180 |
1.54e0 |
SMART |
|
WD40
|
184 |
255 |
2.45e-8 |
SMART |
|
WD40
|
280 |
312 |
1.42e2 |
SMART |
|
WD40
|
316 |
365 |
1.99e0 |
SMART |
|
WD40
|
368 |
408 |
5.15e-2 |
SMART |
|
WD40
|
415 |
455 |
8.49e-3 |
SMART |
|
WD40
|
460 |
511 |
8.84e1 |
SMART |
|
WD40
|
529 |
564 |
4.28e0 |
SMART |
|
WD40
|
567 |
613 |
2.24e-2 |
SMART |
|
WD40
|
628 |
668 |
2.2e-10 |
SMART |
|
WD40
|
671 |
711 |
2.31e-4 |
SMART |
|
low complexity region
|
731 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
1064 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1132 |
N/A |
INTRINSIC |
|
| 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 that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
C |
7: 29,262,777 (GRCm39) |
|
noncoding transcript |
Het |
| Araf |
A |
G |
X: 20,720,148 (GRCm39) |
|
probably benign |
Het |
| Arrb2 |
T |
A |
11: 70,330,300 (GRCm39) |
V308E |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,956,768 (GRCm39) |
|
probably benign |
Het |
| Astn2 |
G |
A |
4: 65,910,516 (GRCm39) |
|
probably benign |
Het |
| Cactin |
T |
A |
10: 81,158,808 (GRCm39) |
I258N |
probably benign |
Het |
| Calhm6 |
T |
C |
10: 34,002,400 (GRCm39) |
T228A |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,910,345 (GRCm39) |
|
probably benign |
Het |
| Ccna1 |
C |
T |
3: 54,955,915 (GRCm39) |
D146N |
probably benign |
Het |
| Chrna3 |
T |
C |
9: 54,922,821 (GRCm39) |
Y329C |
probably damaging |
Het |
| Ctps2 |
G |
A |
X: 161,693,005 (GRCm39) |
G56D |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,504,754 (GRCm39) |
D44G |
probably benign |
Het |
| D3Ertd751e |
A |
G |
3: 41,708,155 (GRCm39) |
|
probably null |
Het |
| Daxx |
T |
C |
17: 34,131,216 (GRCm39) |
V381A |
probably damaging |
Het |
| Dhx37 |
T |
A |
5: 125,496,401 (GRCm39) |
I714F |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,478 (GRCm39) |
V1470A |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,332,247 (GRCm39) |
I297T |
probably damaging |
Het |
| Fnd3c2 |
A |
T |
X: 105,289,092 (GRCm39) |
H442Q |
probably damaging |
Het |
| Glp2r |
A |
C |
11: 67,630,992 (GRCm39) |
V126G |
possibly damaging |
Het |
| Gm5699 |
G |
T |
1: 31,037,843 (GRCm39) |
|
noncoding transcript |
Het |
| Gpt2 |
A |
G |
8: 86,242,862 (GRCm39) |
D298G |
probably damaging |
Het |
| Gse1 |
G |
T |
8: 121,302,001 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
T |
C |
11: 57,722,420 (GRCm39) |
T65A |
probably benign |
Het |
| Ints8 |
G |
A |
4: 11,208,834 (GRCm39) |
Q955* |
probably null |
Het |
| Lrguk |
C |
T |
6: 34,069,726 (GRCm39) |
P534S |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,518,886 (GRCm39) |
F60L |
probably benign |
Het |
| Mamld1 |
T |
C |
X: 70,162,258 (GRCm39) |
I423T |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,049,712 (GRCm39) |
E915G |
probably damaging |
Het |
| Oosp2 |
T |
C |
19: 11,628,847 (GRCm39) |
T85A |
probably benign |
Het |
| Or5b94 |
T |
C |
19: 12,652,223 (GRCm39) |
F218S |
possibly damaging |
Het |
| Or5p68 |
C |
T |
7: 107,945,813 (GRCm39) |
R125Q |
probably damaging |
Het |
| Pde4c |
T |
A |
8: 71,200,701 (GRCm39) |
|
probably benign |
Het |
| Pdxdc1 |
T |
C |
16: 13,693,945 (GRCm39) |
E159G |
possibly damaging |
Het |
| Poln |
T |
C |
5: 34,286,721 (GRCm39) |
E149G |
probably damaging |
Het |
| Pou5f2 |
T |
G |
13: 78,174,024 (GRCm39) |
L322R |
probably damaging |
Het |
| Ppm1k |
A |
T |
6: 57,501,997 (GRCm39) |
S55R |
possibly damaging |
Het |
| Ptges2 |
T |
A |
2: 32,287,719 (GRCm39) |
I149N |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,427,369 (GRCm39) |
V471A |
possibly damaging |
Het |
| Raet1e |
A |
T |
10: 22,056,666 (GRCm39) |
M81L |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,098,956 (GRCm39) |
S438P |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,750 (GRCm39) |
K126* |
probably null |
Het |
| Stfa2 |
T |
C |
16: 36,225,569 (GRCm39) |
T37A |
probably damaging |
Het |
| Ttll12 |
A |
G |
15: 83,465,897 (GRCm39) |
I433T |
possibly damaging |
Het |
| Vmn2r32 |
C |
T |
7: 7,467,116 (GRCm39) |
G804D |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,740,560 (GRCm39) |
T84A |
probably benign |
Het |
|
| Other mutations in Mrpl22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01782:Mrpl22
|
APN |
11 |
58,062,670 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02081:Mrpl22
|
APN |
11 |
58,062,647 (GRCm39) |
missense |
probably benign |
|
|
R0164:Mrpl22
|
UTSW |
11 |
58,062,647 (GRCm39) |
missense |
probably benign |
|
|
R0164:Mrpl22
|
UTSW |
11 |
58,062,647 (GRCm39) |
missense |
probably benign |
|
|
R4222:Mrpl22
|
UTSW |
11 |
58,062,693 (GRCm39) |
unclassified |
probably benign |
|
|
R4489:Mrpl22
|
UTSW |
11 |
58,063,928 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5718:Mrpl22
|
UTSW |
11 |
58,068,109 (GRCm39) |
missense |
probably benign |
|
|
R6650:Mrpl22
|
UTSW |
11 |
58,066,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8407:Mrpl22
|
UTSW |
11 |
58,066,156 (GRCm39) |
nonsense |
probably null |
|
|
R9171:Mrpl22
|
UTSW |
11 |
58,070,185 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9641:Mrpl22
|
UTSW |
11 |
58,068,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Mrpl22
|
UTSW |
11 |
58,070,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1186:Mrpl22
|
UTSW |
11 |
58,062,521 (GRCm39) |
missense |
unknown |
|
|
Z1187:Mrpl22
|
UTSW |
11 |
58,062,521 (GRCm39) |
missense |
unknown |
|
|
Z1188:Mrpl22
|
UTSW |
11 |
58,062,521 (GRCm39) |
missense |
unknown |
|
|
Z1189:Mrpl22
|
UTSW |
11 |
58,062,521 (GRCm39) |
missense |
unknown |
|
|
Z1190:Mrpl22
|
UTSW |
11 |
58,062,521 (GRCm39) |
missense |
unknown |
|
|
Z1191:Mrpl22
|
UTSW |
11 |
58,062,521 (GRCm39) |
missense |
unknown |
|
|
Z1192:Mrpl22
|
UTSW |
11 |
58,062,521 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation