Incidental Mutation 'P0016:Rbm22'
ID7570
Institutional Source Beutler Lab
Gene Symbol Rbm22
Ensembl Gene ENSMUSG00000024604
Gene NameRNA binding motif protein 22
Synonyms8430430L24Rik
MMRRC Submission 038269-MU
Accession Numbers

NCBI RefSeq: NM_025776.2; MGI:1914060

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #P0016 (G1)
Quality Score
Status Validated
Chromosome18
Chromosomal Location60560736-60572810 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 60570770 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025506]
Predicted Effect probably benign
Transcript: ENSMUST00000025506
SMART Domains Protein: ENSMUSP00000025506
Gene: ENSMUSG00000024604

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,938 L154* probably null Het
4930432E11Rik T C 7: 29,563,112 noncoding transcript Het
Arap3 T A 18: 37,984,348 T892S probably benign Het
Ctnnd2 G A 15: 30,966,938 V987I probably benign Het
Dennd6b T C 15: 89,186,977 I351V probably benign Het
Kif27 G A 13: 58,303,452 Q1021* probably null Het
Klb G A 5: 65,379,923 W865* probably null Het
Mbd1 C T 18: 74,274,538 R130* probably null Het
Mroh7 T A 4: 106,707,857 probably null Het
Myo16 C T 8: 10,400,596 probably benign Het
Rnaseh2a C G 8: 84,959,800 D206H probably damaging Het
Slain1 A G 14: 103,685,674 T187A probably benign Het
Slamf6 A G 1: 171,936,501 T154A probably damaging Het
Traip A G 9: 107,968,656 D316G possibly damaging Het
Ttn T C 2: 76,811,183 D5196G probably damaging Het
Ubr5 C T 15: 38,000,578 V1569M probably damaging Het
Zfp750 T A 11: 121,513,978 K24* probably null Het
Zfp799 T C 17: 32,819,357 E645G possibly damaging Het
Other mutations in Rbm22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Rbm22 APN 18 60560857 missense probably damaging 0.96
IGL02192:Rbm22 APN 18 60564412 missense possibly damaging 0.91
IGL02371:Rbm22 APN 18 60571956 unclassified probably benign
IGL02423:Rbm22 APN 18 60571819 unclassified probably benign
R1635:Rbm22 UTSW 18 60561268 missense probably damaging 1.00
R1715:Rbm22 UTSW 18 60560844 missense possibly damaging 0.65
R4720:Rbm22 UTSW 18 60564391 missense probably damaging 1.00
R4721:Rbm22 UTSW 18 60564391 missense probably damaging 1.00
R4722:Rbm22 UTSW 18 60564391 missense probably damaging 1.00
R5619:Rbm22 UTSW 18 60560827 start codon destroyed probably null 1.00
R7797:Rbm22 UTSW 18 60561272 missense probably damaging 0.96
R7896:Rbm22 UTSW 18 60569433 missense probably benign 0.17
R7979:Rbm22 UTSW 18 60569433 missense probably benign 0.17
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
Posted On2012-10-05
Science WriterAnne Murray