Incidental Mutation 'R4489:Mrpl22'
| ID |
330645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl22
|
| Ensembl Gene |
ENSMUSG00000020514 |
| Gene Name |
mitochondrial ribosomal protein L22 |
| Synonyms |
HSPC158, E030011D16Rik, Rpml25, MRP-L25 |
| MMRRC Submission |
041745-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4489 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58062487-58070391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58063928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 49
(N49K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020820]
[ENSMUST00000035604]
[ENSMUST00000102711]
[ENSMUST00000172035]
|
| AlphaFold |
Q8BU88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020820
AA Change: N49K
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000020820
Gene: ENSMUSG00000020514
AA Change: N49K
| 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 |
|
| Meta Mutation Damage Score |
0.2834 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
94% (50/53) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,734,086 (GRCm39) |
A754V |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,165,479 (GRCm39) |
N582S |
probably benign |
Het |
| Arnt2 |
T |
A |
7: 83,924,553 (GRCm39) |
T425S |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Cand2 |
A |
G |
6: 115,766,427 (GRCm39) |
D344G |
probably damaging |
Het |
| Clta |
T |
G |
4: 44,032,417 (GRCm39) |
F198V |
probably damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Csmd2 |
G |
A |
4: 128,275,738 (GRCm39) |
V826M |
possibly damaging |
Het |
| Dnah11 |
C |
T |
12: 117,880,631 (GRCm39) |
V3830I |
probably benign |
Het |
| Fhl4 |
T |
C |
10: 84,934,319 (GRCm39) |
D154G |
possibly damaging |
Het |
| Gbp4 |
T |
A |
5: 105,269,773 (GRCm39) |
T352S |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,368,548 (GRCm39) |
D1076G |
probably damaging |
Het |
| Gm21370 |
T |
A |
13: 120,488,378 (GRCm39) |
Y57F |
probably benign |
Het |
| Gm6489 |
A |
G |
1: 31,326,320 (GRCm39) |
|
noncoding transcript |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,424,320 (GRCm39) |
I660R |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,551,501 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
A |
8: 69,588,347 (GRCm39) |
K536N |
possibly damaging |
Het |
| Mzt1 |
T |
C |
14: 99,273,926 (GRCm39) |
*42W |
probably null |
Het |
| Nkx3-2 |
T |
G |
5: 41,919,304 (GRCm39) |
Q228P |
probably damaging |
Het |
| Nufip2 |
T |
G |
11: 77,577,055 (GRCm39) |
M1R |
probably null |
Het |
| Obscn |
G |
A |
11: 58,922,417 (GRCm39) |
T5921M |
possibly damaging |
Het |
| Or4c116 |
T |
C |
2: 88,941,916 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,969 (GRCm39) |
Q533K |
possibly damaging |
Het |
| Pgm5 |
T |
C |
19: 24,793,809 (GRCm39) |
E285G |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Potefam1 |
A |
G |
2: 111,051,047 (GRCm39) |
Y250H |
probably benign |
Het |
| Rgs21 |
T |
C |
1: 144,395,613 (GRCm39) |
T92A |
possibly damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,703,282 (GRCm39) |
Y123F |
probably benign |
Het |
| Rnf13 |
A |
C |
3: 57,728,010 (GRCm39) |
K230T |
probably damaging |
Het |
| Sgf29 |
T |
C |
7: 126,263,110 (GRCm39) |
S29P |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Specc1 |
T |
G |
11: 62,042,653 (GRCm39) |
|
probably null |
Het |
| Tg |
A |
T |
15: 66,579,791 (GRCm39) |
Q1532L |
probably damaging |
Het |
| Timm44 |
A |
C |
8: 4,316,654 (GRCm39) |
S297A |
possibly damaging |
Het |
| Txndc9 |
G |
T |
1: 38,034,871 (GRCm39) |
S11* |
probably null |
Het |
| Uggt1 |
C |
T |
1: 36,185,749 (GRCm39) |
W1478* |
probably null |
Het |
| Washc3 |
T |
C |
10: 88,051,893 (GRCm39) |
V87A |
probably benign |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGCTCTGTAGTGTCTG -3'
(R):5'- ACCTCACTGCTTGGCACATAAG -3'
Sequencing Primer
(F):5'- CCAGCTCTGTAGTGTCTGGATAAG -3'
(R):5'- GGTGCATACCGTCAATCCCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation