Incidental Mutation 'R8370:Mrps18b'
| ID |
646360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps18b
|
| Ensembl Gene |
ENSMUSG00000024436 |
| Gene Name |
mitochondrial ribosomal protein S18B |
| Synonyms |
2400002C15Rik |
| MMRRC Submission |
067809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R8370 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36221271-36227281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36223254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 131
(I131V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025305]
[ENSMUST00000056034]
[ENSMUST00000061052]
[ENSMUST00000077494]
[ENSMUST00000087210]
[ENSMUST00000087211]
[ENSMUST00000113782]
[ENSMUST00000141132]
[ENSMUST00000141662]
[ENSMUST00000149277]
[ENSMUST00000151664]
[ENSMUST00000174807]
|
| AlphaFold |
Q99N84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025305
AA Change: I131V
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025305
Gene: ENSMUSG00000024436
AA Change: I131V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S18
|
109 |
161 |
8.1e-18 |
PFAM |
|
low complexity region
|
196 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
245 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056034
|
| SMART Domains |
Protein: ENSMUSP00000053853
Gene: ENSMUSG00000024426
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Mec-17
|
72 |
192 |
1.5e-57 |
PFAM |
|
low complexity region
|
232 |
249 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061052
|
| SMART Domains |
Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Mec-17
|
74 |
191 |
1.5e-53 |
PFAM |
|
Pfam:Acetyltransf_1
|
88 |
157 |
6.8e-5 |
PFAM |
|
low complexity region
|
209 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077494
|
| SMART Domains |
Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Mec-17
|
72 |
192 |
2.5e-57 |
PFAM |
|
low complexity region
|
232 |
249 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087210
|
| SMART Domains |
Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
| Domain | Start | End | E-Value | Type |
|---|
|
TFS2N
|
74 |
146 |
2.23e-22 |
SMART |
|
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
363 |
N/A |
INTRINSIC |
|
PDB:4MP0|D
|
393 |
433 |
8e-22 |
PDB |
|
low complexity region
|
502 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
853 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
855 |
881 |
5.76e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087211
|
| SMART Domains |
Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
| Domain | Start | End | E-Value | Type |
|---|
|
TFS2N
|
74 |
146 |
2.23e-22 |
SMART |
|
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
363 |
N/A |
INTRINSIC |
|
PDB:4MP0|D
|
393 |
433 |
8e-22 |
PDB |
|
low complexity region
|
502 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
853 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
855 |
881 |
5.76e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113782
AA Change: I39V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109412
Gene: ENSMUSG00000024436
AA Change: I39V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S18
|
18 |
69 |
5.1e-16 |
PFAM |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126744
|
| SMART Domains |
Protein: ENSMUSP00000122211
Gene: ENSMUSG00000024426
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mec-17
|
1 |
83 |
2.7e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141132
|
| SMART Domains |
Protein: ENSMUSP00000117824
Gene: ENSMUSG00000024426
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mec-17
|
29 |
149 |
9.1e-59 |
PFAM |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141662
|
| SMART Domains |
Protein: ENSMUSP00000115004
Gene: ENSMUSG00000024426
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Mec-17
|
72 |
192 |
1.7e-57 |
PFAM |
|
low complexity region
|
209 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149277
|
| SMART Domains |
Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Mec-17
|
72 |
192 |
2e-57 |
PFAM |
|
low complexity region
|
209 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151664
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174807
AA Change: I120V
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133584
Gene: ENSMUSG00000024436
AA Change: I120V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fjgr_
|
91 |
128 |
1e-8 |
SMART |
|
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
179 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,696,881 (GRCm39) |
V92A |
possibly damaging |
Het |
| Armc2 |
T |
A |
10: 41,799,833 (GRCm39) |
N675I |
possibly damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,293 (GRCm39) |
H126R |
possibly damaging |
Het |
| Ccdc202 |
T |
C |
14: 96,119,930 (GRCm39) |
L229P |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,631,824 (GRCm39) |
F227S |
probably damaging |
Het |
| Clec4a4 |
G |
A |
6: 122,968,758 (GRCm39) |
G41D |
probably damaging |
Het |
| Commd1 |
A |
T |
11: 22,932,104 (GRCm39) |
L51Q |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,553,192 (GRCm39) |
V1245D |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,383,302 (GRCm39) |
I925T |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,131,454 (GRCm39) |
I700K |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,319,284 (GRCm39) |
T983K |
probably damaging |
Het |
| Gm14325 |
T |
C |
2: 177,474,385 (GRCm39) |
I232M |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,732,679 (GRCm39) |
H683R |
probably benign |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kif9 |
C |
T |
9: 110,317,681 (GRCm39) |
R113C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,280 (GRCm39) |
E489G |
possibly damaging |
Het |
| Lhb |
A |
G |
7: 45,071,066 (GRCm39) |
D97G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,888,117 (GRCm39) |
D2381G |
|
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
G |
5: 129,682,642 (GRCm39) |
D427G |
probably damaging |
Het |
| Nav1 |
T |
A |
1: 135,398,882 (GRCm39) |
K567* |
probably null |
Het |
| Ncam1 |
T |
A |
9: 49,468,431 (GRCm39) |
R343* |
probably null |
Het |
| Nfrkb |
T |
A |
9: 31,316,875 (GRCm39) |
N591K |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,854,974 (GRCm39) |
C117* |
probably null |
Het |
| Or5b123 |
T |
A |
19: 13,596,661 (GRCm39) |
I2N |
probably damaging |
Het |
| Or6ae1 |
A |
T |
7: 139,742,681 (GRCm39) |
Y61N |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,407,275 (GRCm39) |
N509Y |
probably damaging |
Het |
| Prss58 |
C |
A |
6: 40,872,358 (GRCm39) |
G222C |
probably damaging |
Het |
| Ptx4 |
C |
A |
17: 25,342,314 (GRCm39) |
P263Q |
possibly damaging |
Het |
| Ribc2 |
T |
G |
15: 85,027,489 (GRCm39) |
H323Q |
probably benign |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,701,908 (GRCm39) |
T1028M |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,891,766 (GRCm39) |
D18G |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,093,022 (GRCm39) |
I806V |
probably benign |
Het |
| Trim14 |
A |
T |
4: 46,523,711 (GRCm39) |
L109Q |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,815,208 (GRCm39) |
H1602Q |
|
Het |
| Zbtb48 |
A |
G |
4: 152,105,744 (GRCm39) |
|
probably null |
Het |
| Zranb3 |
T |
C |
1: 127,895,670 (GRCm39) |
E726G |
probably benign |
Het |
|
| Other mutations in Mrps18b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2862:Mrps18b
|
UTSW |
17 |
36,221,746 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3733:Mrps18b
|
UTSW |
17 |
36,221,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3912:Mrps18b
|
UTSW |
17 |
36,221,831 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5485:Mrps18b
|
UTSW |
17 |
36,225,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Mrps18b
|
UTSW |
17 |
36,225,215 (GRCm39) |
splice site |
probably benign |
|
|
R7376:Mrps18b
|
UTSW |
17 |
36,221,587 (GRCm39) |
missense |
probably benign |
|
|
R8145:Mrps18b
|
UTSW |
17 |
36,225,293 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTACAGGGAGGCTCTAAAAC -3'
(R):5'- GGCTTCTCCAAAACTGGCAG -3'
Sequencing Primer
(F):5'- CCTACAGGGAGGCTCTAAAACTTTAG -3'
(R):5'- GCTGGCCTTGATCTCAAAGATAGTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation