Incidental Mutation 'IGL02814:Rbm28'
ID360701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm28
Ensembl Gene ENSMUSG00000029701
Gene NameRNA binding motif protein 28
Synonyms2810480G15Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #IGL02814
Quality Score
Status
Chromosome6
Chromosomal Location29123576-29165006 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29159726 bp
ZygosityHeterozygous
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]
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
2700081O15Rik C A 19: 7,420,422 N111K possibly damaging Het
Abca9 A T 11: 110,154,467 F347I possibly damaging Het
Adcy5 A G 16: 35,303,649 T1233A probably benign Het
Blnk C T 19: 40,962,429 D93N probably damaging Het
Cadps2 T C 6: 23,321,707 E1083G probably damaging Het
Capn8 C A 1: 182,598,771 L224M probably damaging Het
Cdh4 A T 2: 179,780,474 E130D probably benign Het
Cgn G A 3: 94,774,240 T515M probably benign Het
Chrna10 C T 7: 102,112,262 G374D probably benign Het
Chrnb1 T A 11: 69,795,680 Y38F probably damaging Het
Cyld A G 8: 88,744,897 D621G probably benign Het
Cyp4f37 T C 17: 32,634,671 F443S probably benign Het
Dctn1 C A 6: 83,189,914 A152E probably damaging Het
Eml4 T A 17: 83,441,362 Y228* probably null Het
Fbln2 T A 6: 91,265,857 C846* probably null Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gart T C 16: 91,623,457 S833G possibly damaging Het
Gda T C 19: 21,428,475 probably null Het
Gjb5 C T 4: 127,355,562 R263Q probably benign Het
Gtf2i T C 5: 134,286,704 K193E probably damaging Het
Hist2h4 C A 3: 96,263,287 K6N probably benign Het
Ints1 C T 5: 139,772,391 E244K possibly damaging Het
Kat14 G A 2: 144,402,463 S412N probably benign Het
Kcnn3 A T 3: 89,521,175 H236L possibly damaging Het
Kif15 T A 9: 123,003,640 I1005K possibly damaging Het
Klrc1 T C 6: 129,678,892 T7A possibly damaging Het
Lcp2 T C 11: 34,071,033 S130P probably damaging Het
Ldha T A 7: 46,850,891 Y133* probably null Het
Lrp2 A G 2: 69,506,736 C1231R probably damaging Het
Lrrn1 T A 6: 107,567,352 V37D probably damaging Het
Mep1a T A 17: 43,477,221 H648L probably benign Het
Mmp25 C T 17: 23,639,762 G272R probably damaging Het
Myh15 A G 16: 49,145,438 probably benign Het
Myl3 G T 9: 110,767,991 E140* probably null Het
Nlrp4f A G 13: 65,185,042 S809P probably damaging Het
Nrde2 T C 12: 100,144,135 I207M probably null Het
Olfr1373 C T 11: 52,144,810 C240Y probably damaging Het
Olfr474 T C 7: 107,954,770 I43T probably benign Het
Olfr541 T C 7: 140,705,133 L294P probably damaging Het
Paics T G 5: 76,962,473 V245G probably damaging Het
Pank1 A G 19: 34,840,855 F95L probably damaging Het
Pde4dip A C 3: 97,767,100 C167G probably damaging Het
Picalm C A 7: 90,191,749 T542K possibly damaging Het
Piezo1 A G 8: 122,498,215 Y651H probably damaging Het
Pikfyve T A 1: 65,250,194 C1208* probably null Het
Pkd1l1 T A 11: 8,902,582 T634S probably benign Het
Rab32 T C 10: 10,546,427 T183A probably benign Het
Rad18 T C 6: 112,644,622 I206V possibly damaging Het
Rbm15b T C 9: 106,885,776 I398V probably benign Het
Rsf1 T C 7: 97,661,227 L388P probably damaging Het
Scnn1g A G 7: 121,740,365 Y129C probably damaging Het
Slc7a13 G A 4: 19,839,387 C330Y probably benign Het
Spock1 A T 13: 57,587,673 V101E probably damaging Het
Sympk T A 7: 19,053,273 W1029R probably damaging Het
Syne2 T A 12: 75,945,376 H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 Y199N probably damaging Het
Trim10 T A 17: 36,877,336 C481* probably null Het
Vmn2r102 A G 17: 19,677,908 E395G probably damaging Het
Wfs1 A C 5: 36,967,669 V626G possibly damaging Het
Zfp689 A G 7: 127,445,021 S146P possibly damaging Het
Zfp786 T C 6: 47,819,841 H721R probably damaging Het
Other mutations in Rbm28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Rbm28 APN 6 29128585 missense possibly damaging 0.94
IGL02097:Rbm28 APN 6 29138618 missense possibly damaging 0.82
IGL03212:Rbm28 APN 6 29131275 missense probably damaging 1.00
R0106:Rbm28 UTSW 6 29127803 missense probably benign
R0106:Rbm28 UTSW 6 29127803 missense probably benign
R0109:Rbm28 UTSW 6 29160105 missense probably benign 0.16
R0376:Rbm28 UTSW 6 29158928 splice site probably benign
R0654:Rbm28 UTSW 6 29128578 missense probably damaging 1.00
R0884:Rbm28 UTSW 6 29155154 missense possibly damaging 0.68
R1255:Rbm28 UTSW 6 29158247 missense probably damaging 1.00
R1367:Rbm28 UTSW 6 29137640 missense probably damaging 1.00
R1466:Rbm28 UTSW 6 29155017 splice site probably benign
R2277:Rbm28 UTSW 6 29135514 unclassified probably null
R3917:Rbm28 UTSW 6 29154789 missense probably benign 0.00
R4033:Rbm28 UTSW 6 29159669 missense probably damaging 0.99
R4421:Rbm28 UTSW 6 29154837 missense probably damaging 1.00
R4728:Rbm28 UTSW 6 29143592 missense probably damaging 1.00
R4740:Rbm28 UTSW 6 29125354 utr 3 prime probably benign
R4952:Rbm28 UTSW 6 29138598 missense probably damaging 1.00
R5378:Rbm28 UTSW 6 29128559 missense probably damaging 0.99
R5652:Rbm28 UTSW 6 29135409 missense probably damaging 1.00
R6578:Rbm28 UTSW 6 29137640 missense probably damaging 1.00
R7351:Rbm28 UTSW 6 29158880 missense probably benign
R7770:Rbm28 UTSW 6 29164628 unclassified probably benign
RF056:Rbm28 UTSW 6 29157053 frame shift probably null
Z1176:Rbm28 UTSW 6 29128547 missense probably damaging 0.99
Posted On2015-12-18