Incidental Mutation 'P0016:Rbm22'
| ID |
7570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm22
|
| Ensembl Gene |
ENSMUSG00000024604 |
| Gene Name |
RNA binding motif protein 22 |
| Synonyms |
8430430L24Rik |
| MMRRC Submission |
038269-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
P0016 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
60693858-60705801 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 60703842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025506]
|
| AlphaFold |
Q8BHS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025506
|
| SMART Domains |
Protein: ENSMUSP00000025506
Gene: ENSMUSG00000024604
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
159 |
185 |
8.15e-6 |
SMART |
|
RRM
|
233 |
301 |
7.94e-18 |
SMART |
|
low complexity region
|
325 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161544
|
| Coding Region Coverage |
- 1x: 85.6%
- 3x: 81.0%
- 10x: 66.8%
- 20x: 50.1%
|
| Validation Efficiency |
96% (97/101) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
T |
5: 138,561,200 (GRCm39) |
L154* |
probably null |
Het |
| 4930432E11Rik |
T |
C |
7: 29,262,537 (GRCm39) |
|
noncoding transcript |
Het |
| Arap3 |
T |
A |
18: 38,117,401 (GRCm39) |
T892S |
probably benign |
Het |
| Ctnnd2 |
G |
A |
15: 30,967,084 (GRCm39) |
V987I |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,071,180 (GRCm39) |
I351V |
probably benign |
Het |
| Kif27 |
G |
A |
13: 58,451,266 (GRCm39) |
Q1021* |
probably null |
Het |
| Klb |
G |
A |
5: 65,537,266 (GRCm39) |
W865* |
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,407,609 (GRCm39) |
R130* |
probably null |
Het |
| Mroh7 |
T |
A |
4: 106,565,054 (GRCm39) |
|
probably null |
Het |
| Myo16 |
C |
T |
8: 10,450,596 (GRCm39) |
|
probably benign |
Het |
| Rnaseh2a |
C |
G |
8: 85,686,429 (GRCm39) |
D206H |
probably damaging |
Het |
| Slain1 |
A |
G |
14: 103,923,110 (GRCm39) |
T187A |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,764,068 (GRCm39) |
T154A |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,845,855 (GRCm39) |
D316G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,641,527 (GRCm39) |
D5196G |
probably damaging |
Het |
| Ubr5 |
C |
T |
15: 38,000,822 (GRCm39) |
V1569M |
probably damaging |
Het |
| Zfp750 |
T |
A |
11: 121,404,804 (GRCm39) |
K24* |
probably null |
Het |
| Zfp799 |
T |
C |
17: 33,038,331 (GRCm39) |
E645G |
possibly damaging |
Het |
|
| Other mutations in Rbm22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Rbm22
|
APN |
18 |
60,693,929 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02192:Rbm22
|
APN |
18 |
60,697,484 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02371:Rbm22
|
APN |
18 |
60,705,028 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02423:Rbm22
|
APN |
18 |
60,704,891 (GRCm39) |
unclassified |
probably benign |
|
|
R1635:Rbm22
|
UTSW |
18 |
60,694,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1715:Rbm22
|
UTSW |
18 |
60,693,916 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4720:Rbm22
|
UTSW |
18 |
60,697,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Rbm22
|
UTSW |
18 |
60,697,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4722:Rbm22
|
UTSW |
18 |
60,697,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Rbm22
|
UTSW |
18 |
60,693,899 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7797:Rbm22
|
UTSW |
18 |
60,694,344 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7896:Rbm22
|
UTSW |
18 |
60,702,505 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9479:Rbm22
|
UTSW |
18 |
60,699,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Protein Function and Prediction |
Rbm22 is a RNA-binding motif protein from the SLT11 gene family (1). In HeLa cells, knockdown of RBM22 led to mitotic arrest and a cytokinesis defect, but not cell death (2). Furthermore, studies found that Rbm22 is required for normal development of zebrafish embryos (1). Rbm22 interacts with the Ca2+-binding protein ALG-2 to facilitate its nuclear translocation; these findings indicate that the ALG-2-Rbm22 complex may be important in Ca2+-dependent signaling (3). |
| References |
2. Kittler, R., Putz, G., Pelletier, L., Poser, I., Heninger, A. K., Drechsel, D., Fischer, S., Konstantinova, I., Habermann, B., Grabner, H., Yaspo, M. L., Himmelbauer, H., Korn, B., Neugebauer, K., Pisabarro, M. T., and Buchholz, F. (2004) An Endoribonuclease-Prepared siRNA Screen in Human Cells Identifies Genes Essential for Cell Division. Nature. 432, 1036-1040.
3. Montaville, P., Dai, Y., Cheung, C. Y., Giller, K., Becker, S., Michalak, M., Webb, S. E., Miller, A. L., and Krebs, J. (2006) Nuclear Translocation of the Calcium-Binding Protein ALG-2 Induced by the RNA-Binding Protein RBM22. Biochim Biophys Acta. 1763, 1335-1343. |
| Posted On |
2012-10-05 |
| Science Writer |
Anne Murray |
Incidental Mutation