Incidental Mutation 'R8402:Rps24'
| ID |
656542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps24
|
| Ensembl Gene |
ENSMUSG00000025290 |
| Gene Name |
ribosomal protein S24 |
| Synonyms |
MRP S24 |
| MMRRC Submission |
067878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R8402 (G1)
|
| Quality Score |
85.0076 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24540746-24547028 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 24540829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026322]
[ENSMUST00000112384]
[ENSMUST00000169826]
[ENSMUST00000223718]
[ENSMUST00000223999]
[ENSMUST00000224568]
[ENSMUST00000225023]
|
| AlphaFold |
P62849 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026322
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RPOLA_N
|
122 |
218 |
5e-43 |
BLAST |
|
RPOLA_N
|
248 |
553 |
1.09e-176 |
SMART |
|
Pfam:RNA_pol_Rpb1_4
|
728 |
834 |
4e-35 |
PFAM |
|
Pfam:RNA_pol_Rpb1_5
|
841 |
1318 |
1.2e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112384
|
| SMART Domains |
Protein: ENSMUSP00000108003
Gene: ENSMUSG00000025290
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S24e
|
23 |
108 |
4.4e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169826
|
| SMART Domains |
Protein: ENSMUSP00000125977
Gene: ENSMUSG00000025290
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S24e
|
24 |
102 |
1.9e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223718
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223999
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224568
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225023
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
T |
15: 11,263,376 (GRCm39) |
K579N |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,035,363 (GRCm39) |
V89A |
probably benign |
Het |
| Anapc1 |
G |
A |
2: 128,472,148 (GRCm39) |
S1458L |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,508,949 (GRCm39) |
Y325C |
probably damaging |
Het |
| Btnl4 |
T |
C |
17: 34,688,467 (GRCm39) |
Y437C |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,413,879 (GRCm39) |
S806T |
probably damaging |
Het |
| Clec2m |
T |
A |
6: 129,300,007 (GRCm39) |
D157V |
possibly damaging |
Het |
| Ddit4l |
A |
G |
3: 137,331,888 (GRCm39) |
T85A |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,011,393 (GRCm39) |
W1183* |
probably null |
Het |
| Dmxl1 |
G |
T |
18: 50,011,409 (GRCm39) |
V1189L |
probably benign |
Het |
| Dmxl1 |
G |
C |
18: 50,011,394 (GRCm39) |
D1184H |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,116,197 (GRCm39) |
D820G |
probably benign |
Het |
| Fam76b |
T |
C |
9: 13,750,972 (GRCm39) |
S289P |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,378,131 (GRCm39) |
W116R |
probably damaging |
Het |
| Galnt7 |
G |
A |
8: 57,995,953 (GRCm39) |
A355V |
probably damaging |
Het |
| Klk1b5 |
T |
G |
7: 43,867,962 (GRCm39) |
F45V |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,103,185 (GRCm39) |
V661A |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,636,750 (GRCm39) |
N517S |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,716 (GRCm39) |
I145M |
probably benign |
Het |
| Or10d5 |
T |
A |
9: 39,861,713 (GRCm39) |
Y118F |
probably benign |
Het |
| P2rx1 |
T |
C |
11: 72,904,715 (GRCm39) |
F368L |
probably damaging |
Het |
| Palld |
A |
T |
8: 62,164,440 (GRCm39) |
V417E |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,821,385 (GRCm39) |
A1375E |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,949 (GRCm39) |
N259D |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,073,037 (GRCm39) |
N628K |
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,351,774 (GRCm39) |
L177Q |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,177,731 (GRCm39) |
L508Q |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,946,359 (GRCm39) |
S360P |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,424,718 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
A |
G |
3: 64,178,617 (GRCm39) |
|
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,204,879 (GRCm39) |
E121G |
probably damaging |
Het |
| Zfp607b |
T |
A |
7: 27,402,127 (GRCm39) |
H194Q |
probably damaging |
Het |
| Zfp729b |
G |
A |
13: 67,740,696 (GRCm39) |
P523L |
probably damaging |
Het |
|
| Other mutations in Rps24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02049:Rps24
|
APN |
14 |
24,541,823 (GRCm39) |
missense |
probably benign |
|
|
R1209:Rps24
|
UTSW |
14 |
24,541,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1317:Rps24
|
UTSW |
14 |
24,541,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1363:Rps24
|
UTSW |
14 |
24,541,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1365:Rps24
|
UTSW |
14 |
24,541,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1393:Rps24
|
UTSW |
14 |
24,541,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1427:Rps24
|
UTSW |
14 |
24,541,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Rps24
|
UTSW |
14 |
24,541,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Rps24
|
UTSW |
14 |
24,541,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Rps24
|
UTSW |
14 |
24,541,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2916:Rps24
|
UTSW |
14 |
24,542,009 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4837:Rps24
|
UTSW |
14 |
24,541,855 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6146:Rps24
|
UTSW |
14 |
24,540,803 (GRCm39) |
start gained |
probably null |
|
|
R6249:Rps24
|
UTSW |
14 |
24,543,530 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6386:Rps24
|
UTSW |
14 |
24,542,116 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7316:Rps24
|
UTSW |
14 |
24,540,757 (GRCm39) |
unclassified |
probably benign |
|
|
V7732:Rps24
|
UTSW |
14 |
24,541,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCAATTCAGGCCAGCCAG -3'
(R):5'- TCCACAGGGGTTTCCATAGC -3'
Sequencing Primer
(F):5'- GCGTGGCTAAGGGCTAG -3'
(R):5'- AGGGGTTTCCATAGCCGAGG -3'
|
| Posted On |
2020-12-16 |
Incidental Mutation