Incidental Mutation 'IGL02423:Rbm22'
ID292803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm22
Ensembl Gene ENSMUSG00000024604
Gene NameRNA binding motif protein 22
Synonyms8430430L24Rik
Accession Numbers

NCBI RefSeq: NM_025776.2; MGI:1914060

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02423
Quality Score
Status
Chromosome18
Chromosomal Location60560736-60572810 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 60571819 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000063108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025506] [ENSMUST00000056533]
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 probably benign
Transcript: ENSMUST00000056533
SMART Domains Protein: ENSMUSP00000063108
Gene: ENSMUSG00000049173

DomainStartEndE-ValueType
Pfam:Calsarcin 1 244 1.6e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161544
Coding Region Coverage
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca6 A G 11: 110,219,006 probably benign Het
Adarb2 A T 13: 8,569,720 R81W probably damaging Het
Adgrf4 T C 17: 42,672,576 I72V probably benign Het
Banp A G 8: 122,007,091 I360V probably benign Het
Bmp8a C A 4: 123,316,427 G289C possibly damaging Het
Car3 A T 3: 14,866,851 H94L probably damaging Het
Ccdc137 G A 11: 120,460,101 R108H possibly damaging Het
Cdk14 T C 5: 4,888,905 N411S probably benign Het
Col4a2 A G 8: 11,433,800 M907V probably benign Het
Cyp4f17 T A 17: 32,506,949 W19R possibly damaging Het
Dmxl2 A G 9: 54,393,748 S2360P possibly damaging Het
Eif2d T G 1: 131,153,360 probably benign Het
Epx A G 11: 87,871,318 I369T possibly damaging Het
Fcgbp A G 7: 28,089,953 E648G probably benign Het
Fer1l4 G A 2: 156,052,907 P14L probably benign Het
Folr1 A G 7: 101,858,525 F236S probably benign Het
Foxj2 T G 6: 122,842,773 M540R possibly damaging Het
Gm14025 T C 2: 129,048,048 E42G probably benign Het
Gtf2h1 A G 7: 46,815,400 T420A probably benign Het
H2-T3 T A 17: 36,187,356 T222S probably damaging Het
Ice1 A T 13: 70,592,599 M2163K probably damaging Het
Inppl1 A G 7: 101,832,243 V244A probably benign Het
Kansl3 A T 1: 36,351,969 V373D probably damaging Het
Kdm3a A G 6: 71,614,003 probably benign Het
Krtap1-3 A T 11: 99,590,854 C156S unknown Het
Mab21l3 T C 3: 101,818,729 D317G probably damaging Het
Nox3 T C 17: 3,682,916 H240R probably damaging Het
Nxn A T 11: 76,274,032 S218T probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Olfr781 G A 10: 129,333,528 V216I probably benign Het
Pcdhb13 T C 18: 37,444,339 V590A possibly damaging Het
Pim3 T C 15: 88,863,531 V200A probably benign Het
Plekha3 T C 2: 76,680,180 F20L probably damaging Het
Pmp22 G T 11: 63,158,292 R120S possibly damaging Het
Ppp1r9a A C 6: 4,906,537 D364A probably benign Het
Psd A G 19: 46,314,504 F155L possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Ryr2 A T 13: 11,745,198 F1556I probably damaging Het
Scap G A 9: 110,378,617 A465T probably benign Het
Sdf2 A G 11: 78,251,018 S60G probably damaging Het
Sema3a T C 5: 13,565,809 I400T probably damaging Het
Ski T C 4: 155,159,734 D478G probably damaging Het
Slc12a7 A T 13: 73,763,763 probably benign Het
Slc9a3r1 A G 11: 115,163,713 probably null Het
Sned1 A G 1: 93,283,600 T1074A probably benign Het
Srebf2 A G 15: 82,175,097 T239A probably damaging Het
Stk4 C T 2: 164,086,499 H84Y probably benign Het
Syne1 G T 10: 5,368,295 Q444K probably benign Het
Tecpr1 T A 5: 144,203,487 I817F possibly damaging Het
Tep1 G T 14: 50,844,620 Q1159K possibly damaging Het
Tmem39b G A 4: 129,678,649 H387Y probably damaging Het
Tpp1 T C 7: 105,749,700 H174R probably damaging Het
Ttn C T 2: 76,705,273 V35134I probably benign Het
Usp34 A G 11: 23,354,900 I378V probably benign Het
Vmn2r1 T A 3: 64,090,244 H440Q probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zcchc7 T A 4: 44,931,244 D144E possibly damaging Het
Zic4 C A 9: 91,384,175 H284N probably damaging Het
Zkscan6 A G 11: 65,828,294 H380R probably benign 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
P0016:Rbm22 UTSW 18 60570770 splice site 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
Posted On2015-04-16