Incidental Mutation 'IGL01782:Mrpl22'
| ID |
153978 |
| 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 # |
IGL01782
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
58062487-58070391 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 58062670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020820]
[ENSMUST00000035604]
[ENSMUST00000102711]
[ENSMUST00000172035]
|
| AlphaFold |
Q8BU88 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020820
|
| SMART Domains |
Protein: ENSMUSP00000020820
Gene: ENSMUSG00000020514
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
C |
9: 63,523,995 (GRCm39) |
V34A |
probably benign |
Het |
| Acacb |
G |
T |
5: 114,338,581 (GRCm39) |
G764W |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,772 (GRCm39) |
T151S |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,777,607 (GRCm39) |
C428R |
probably damaging |
Het |
| Card11 |
A |
G |
5: 140,913,481 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc62 |
T |
A |
5: 124,092,639 (GRCm39) |
N541K |
possibly damaging |
Het |
| Cep290 |
C |
T |
10: 100,380,987 (GRCm39) |
Q1742* |
probably null |
Het |
| Cyp2c23 |
T |
C |
19: 44,017,554 (GRCm39) |
T25A |
possibly damaging |
Het |
| Dtx2 |
C |
A |
5: 136,038,981 (GRCm39) |
Y13* |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,581,374 (GRCm39) |
I273T |
probably damaging |
Het |
| Etfb |
A |
G |
7: 43,103,966 (GRCm39) |
T134A |
probably damaging |
Het |
| Fig4 |
A |
C |
10: 41,146,396 (GRCm39) |
L182R |
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,322,021 (GRCm39) |
L217Q |
probably damaging |
Het |
| Gm4871 |
T |
G |
5: 144,967,170 (GRCm39) |
|
probably benign |
Het |
| Gm5464 |
T |
C |
14: 67,106,837 (GRCm39) |
|
probably benign |
Het |
| Lurap1 |
A |
G |
4: 116,001,700 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
T |
A |
5: 129,679,205 (GRCm39) |
V368E |
probably damaging |
Het |
| Nisch |
G |
A |
14: 30,898,596 (GRCm39) |
|
probably benign |
Het |
| Odf4 |
A |
T |
11: 68,817,459 (GRCm39) |
H76Q |
probably damaging |
Het |
| Or2t48 |
T |
A |
11: 58,419,985 (GRCm39) |
M276L |
probably benign |
Het |
| Or6c207 |
C |
T |
10: 129,104,908 (GRCm39) |
V95I |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,465 (GRCm39) |
S661P |
possibly damaging |
Het |
| Otud4 |
T |
G |
8: 80,399,640 (GRCm39) |
F784V |
possibly damaging |
Het |
| Prkch |
A |
G |
12: 73,806,436 (GRCm39) |
D561G |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,417,763 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,314,131 (GRCm39) |
K1617R |
probably damaging |
Het |
| Rarb |
T |
G |
14: 16,434,180 (GRCm38) |
S333R |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,503,523 (GRCm39) |
K99E |
probably benign |
Het |
| Sel1l2 |
A |
T |
2: 140,085,855 (GRCm39) |
W542R |
probably damaging |
Het |
| Sema3g |
G |
T |
14: 30,949,748 (GRCm39) |
R643L |
probably damaging |
Het |
| Sltm |
T |
A |
9: 70,480,923 (GRCm39) |
D258E |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,263,955 (GRCm39) |
V80I |
possibly damaging |
Het |
| Taar2 |
A |
T |
10: 23,817,042 (GRCm39) |
N194I |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,174,129 (GRCm39) |
|
probably null |
Het |
| Unk |
C |
A |
11: 115,949,205 (GRCm39) |
N645K |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,665 (GRCm39) |
K161R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,731,701 (GRCm39) |
D137G |
probably damaging |
Het |
| Xrra1 |
A |
G |
7: 99,524,401 (GRCm39) |
T104A |
possibly damaging |
Het |
| Zfp410 |
T |
A |
12: 84,374,048 (GRCm39) |
|
probably benign |
Het |
| Zfp764l1 |
T |
C |
7: 126,992,476 (GRCm39) |
T45A |
probably benign |
Het |
|
| Other mutations in Mrpl22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02081:Mrpl22
|
APN |
11 |
58,062,647 (GRCm39) |
missense |
probably benign |
|
|
IGL02484:Mrpl22
|
APN |
11 |
58,063,888 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
2014-02-04 |
Incidental Mutation