Incidental Mutation 'IGL02814:Rbm28'
ID 360701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm28
Ensembl Gene ENSMUSG00000029701
Gene Name RNA binding motif protein 28
Synonyms 2810480G15Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # IGL02814
Quality Score
Status
Chromosome 6
Chromosomal Location 29123572-29164975 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29159725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 101 (E101G)
Ref Sequence ENSEMBL: ENSMUSP00000007993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007993]
AlphaFold Q8CGC6
PDB Structure Solution structure of RRM domain in RNA-binding protein 28 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000007993
AA Change: E101G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000007993
Gene: ENSMUSG00000029701
AA Change: E101G

DomainStartEndE-ValueType
RRM 5 76 3.51e-19 SMART
low complexity region 99 114 N/A INTRINSIC
RRM 115 187 4.52e-22 SMART
low complexity region 225 248 N/A INTRINSIC
low complexity region 267 291 N/A INTRINSIC
low complexity region 294 306 N/A INTRINSIC
RRM 326 405 1.85e-18 SMART
RRM 478 566 5.46e-7 SMART
low complexity region 707 720 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172346
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,045,293 (GRCm39) F347I possibly damaging Het
Adcy5 A G 16: 35,124,019 (GRCm39) T1233A probably benign Het
Blnk C T 19: 40,950,873 (GRCm39) D93N probably damaging Het
Cadps2 T C 6: 23,321,706 (GRCm39) E1083G probably damaging Het
Capn8 C A 1: 182,426,336 (GRCm39) L224M probably damaging Het
Cdh4 A T 2: 179,422,267 (GRCm39) E130D probably benign Het
Cgn G A 3: 94,681,550 (GRCm39) T515M probably benign Het
Chrna10 C T 7: 101,761,469 (GRCm39) G374D probably benign Het
Chrnb1 T A 11: 69,686,506 (GRCm39) Y38F probably damaging Het
Cyld A G 8: 89,471,525 (GRCm39) D621G probably benign Het
Cyp4f37 T C 17: 32,853,645 (GRCm39) F443S probably benign Het
Dctn1 C A 6: 83,166,896 (GRCm39) A152E probably damaging Het
Eml4 T A 17: 83,748,791 (GRCm39) Y228* probably null Het
Fbln2 T A 6: 91,242,839 (GRCm39) C846* probably null Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gart T C 16: 91,420,345 (GRCm39) S833G possibly damaging Het
Gda T C 19: 21,405,839 (GRCm39) probably null Het
Gjb5 C T 4: 127,249,355 (GRCm39) R263Q probably benign Het
Gtf2i T C 5: 134,315,558 (GRCm39) K193E probably damaging Het
H4c14 C A 3: 96,170,603 (GRCm39) K6N probably benign Het
Ints1 C T 5: 139,758,146 (GRCm39) E244K possibly damaging Het
Kat14 G A 2: 144,244,383 (GRCm39) S412N probably benign Het
Kcnn3 A T 3: 89,428,482 (GRCm39) H236L possibly damaging Het
Kif15 T A 9: 122,832,705 (GRCm39) I1005K possibly damaging Het
Klrc1 T C 6: 129,655,855 (GRCm39) T7A possibly damaging Het
Lcp2 T C 11: 34,021,033 (GRCm39) S130P probably damaging Het
Ldha T A 7: 46,500,315 (GRCm39) Y133* probably null Het
Lrp2 A G 2: 69,337,080 (GRCm39) C1231R probably damaging Het
Lrrn1 T A 6: 107,544,313 (GRCm39) V37D probably damaging Het
Mep1a T A 17: 43,788,112 (GRCm39) H648L probably benign Het
Mmp25 C T 17: 23,858,736 (GRCm39) G272R probably damaging Het
Myh15 A G 16: 48,965,801 (GRCm39) probably benign Het
Myl3 G T 9: 110,597,059 (GRCm39) E140* probably null Het
Nlrp4f A G 13: 65,332,856 (GRCm39) S809P probably damaging Het
Nrde2 T C 12: 100,110,394 (GRCm39) I207M probably null Het
Or13a26 T C 7: 140,285,046 (GRCm39) L294P probably damaging Het
Or2y8 C T 11: 52,035,637 (GRCm39) C240Y probably damaging Het
Or5p54 T C 7: 107,553,977 (GRCm39) I43T probably benign Het
Paics T G 5: 77,110,320 (GRCm39) V245G probably damaging Het
Pank1 A G 19: 34,818,255 (GRCm39) F95L probably damaging Het
Pde4dip A C 3: 97,674,416 (GRCm39) C167G probably damaging Het
Picalm C A 7: 89,840,957 (GRCm39) T542K possibly damaging Het
Piezo1 A G 8: 123,224,954 (GRCm39) Y651H probably damaging Het
Pikfyve T A 1: 65,289,353 (GRCm39) C1208* probably null Het
Pkd1l1 T A 11: 8,852,582 (GRCm39) T634S probably benign Het
Rab32 T C 10: 10,422,171 (GRCm39) T183A probably benign Het
Rad18 T C 6: 112,621,583 (GRCm39) I206V possibly damaging Het
Rbm15b T C 9: 106,762,975 (GRCm39) I398V probably benign Het
Rsf1 T C 7: 97,310,434 (GRCm39) L388P probably damaging Het
Scnn1g A G 7: 121,339,588 (GRCm39) Y129C probably damaging Het
Slc7a13 G A 4: 19,839,387 (GRCm39) C330Y probably benign Het
Spock1 A T 13: 57,735,486 (GRCm39) V101E probably damaging Het
Sympk T A 7: 18,787,198 (GRCm39) W1029R probably damaging Het
Syne2 T A 12: 75,992,150 (GRCm39) H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 (GRCm39) Y199N probably damaging Het
Trim10 T A 17: 37,188,228 (GRCm39) C481* probably null Het
Vmn2r102 A G 17: 19,898,170 (GRCm39) E395G probably damaging Het
Wfs1 A C 5: 37,125,013 (GRCm39) V626G possibly damaging Het
Zfp689 A G 7: 127,044,193 (GRCm39) S146P possibly damaging Het
Zfp786 T C 6: 47,796,775 (GRCm39) H721R probably damaging Het
Zfta C A 19: 7,397,787 (GRCm39) N111K possibly damaging Het
Other mutations in Rbm28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Rbm28 APN 6 29,128,584 (GRCm39) missense possibly damaging 0.94
IGL02097:Rbm28 APN 6 29,138,617 (GRCm39) missense possibly damaging 0.82
IGL03212:Rbm28 APN 6 29,131,274 (GRCm39) missense probably damaging 1.00
R0106:Rbm28 UTSW 6 29,127,802 (GRCm39) missense probably benign
R0106:Rbm28 UTSW 6 29,127,802 (GRCm39) missense probably benign
R0109:Rbm28 UTSW 6 29,160,104 (GRCm39) missense probably benign 0.16
R0376:Rbm28 UTSW 6 29,158,927 (GRCm39) splice site probably benign
R0654:Rbm28 UTSW 6 29,128,577 (GRCm39) missense probably damaging 1.00
R0884:Rbm28 UTSW 6 29,155,153 (GRCm39) missense possibly damaging 0.68
R1255:Rbm28 UTSW 6 29,158,246 (GRCm39) missense probably damaging 1.00
R1367:Rbm28 UTSW 6 29,137,639 (GRCm39) missense probably damaging 1.00
R1466:Rbm28 UTSW 6 29,155,016 (GRCm39) splice site probably benign
R2277:Rbm28 UTSW 6 29,135,513 (GRCm39) splice site probably null
R3917:Rbm28 UTSW 6 29,154,788 (GRCm39) missense probably benign 0.00
R4033:Rbm28 UTSW 6 29,159,668 (GRCm39) missense probably damaging 0.99
R4421:Rbm28 UTSW 6 29,154,836 (GRCm39) missense probably damaging 1.00
R4728:Rbm28 UTSW 6 29,143,591 (GRCm39) missense probably damaging 1.00
R4740:Rbm28 UTSW 6 29,125,353 (GRCm39) utr 3 prime probably benign
R4952:Rbm28 UTSW 6 29,138,597 (GRCm39) missense probably damaging 1.00
R5378:Rbm28 UTSW 6 29,128,558 (GRCm39) missense probably damaging 0.99
R5652:Rbm28 UTSW 6 29,135,408 (GRCm39) missense probably damaging 1.00
R6578:Rbm28 UTSW 6 29,137,639 (GRCm39) missense probably damaging 1.00
R7351:Rbm28 UTSW 6 29,158,879 (GRCm39) missense probably benign
R7770:Rbm28 UTSW 6 29,164,627 (GRCm39) unclassified probably benign
R8817:Rbm28 UTSW 6 29,155,023 (GRCm39) splice site probably benign
R8861:Rbm28 UTSW 6 29,152,284 (GRCm39) missense probably damaging 1.00
R9339:Rbm28 UTSW 6 29,128,674 (GRCm39) missense probably benign
RF056:Rbm28 UTSW 6 29,157,052 (GRCm39) frame shift probably null
Z1176:Rbm28 UTSW 6 29,128,546 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18