Incidental Mutation 'R2277:Rbm28'
ID242849
Institutional Source Beutler Lab
Gene Symbol Rbm28
Ensembl Gene ENSMUSG00000029701
Gene NameRNA binding motif protein 28
Synonyms2810480G15Rik
MMRRC Submission 040276-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #R2277 (G1)
Quality Score182
Status Not validated
Chromosome6
Chromosomal Location29123576-29165006 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 29135514 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007993] [ENSMUST00000164563]
Predicted Effect probably benign
Transcript: ENSMUST00000007993
AA Change: Q476R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007993
Gene: ENSMUSG00000029701
AA Change: Q476R

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 probably null
Transcript: ENSMUST00000164563
SMART Domains Protein: ENSMUSP00000127856
Gene: ENSMUSG00000029701

DomainStartEndE-ValueType
low complexity region 96 108 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170750
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13d T C 19: 4,280,984 H165R probably benign Het
Arhgap21 T C 2: 20,863,226 I829V possibly damaging Het
Atxn1 T C 13: 45,557,068 N796S probably damaging Het
Bdp1 C A 13: 100,061,330 S849I probably benign Het
Bdp1 T A 13: 100,061,339 E846V probably damaging Het
Cdh4 C A 2: 179,797,524 H155N possibly damaging Het
Cela3a T C 4: 137,405,876 I62V possibly damaging Het
Cr2 T C 1: 195,157,368 R960G possibly damaging Het
Ddx42 T A 11: 106,242,939 D580E probably damaging Het
Dnah17 T C 11: 118,096,561 K1308E possibly damaging Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Gh T C 11: 106,300,787 E143G probably damaging Het
Hcn3 C A 3: 89,147,861 R693L probably benign Het
Hdlbp G A 1: 93,408,178 R1199* probably null Het
Hook2 C T 8: 85,002,931 Q667* probably null Het
Ibtk T C 9: 85,703,151 I1147V probably benign Het
Itpk1 T C 12: 102,570,260 T376A probably benign Het
Lars C T 18: 42,235,502 V425I probably benign Het
Lgi4 T G 7: 31,060,612 L78V probably damaging Het
Madd A T 2: 91,143,683 C1419S possibly damaging Het
Mamld1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA X: 71,118,815 probably benign Het
Mpp2 T C 11: 102,064,301 E166G probably damaging Het
Mrgprb5 A G 7: 48,168,831 L52P probably damaging Het
Nlrp2 T C 7: 5,328,129 T423A probably benign Het
Nphs1 T A 7: 30,467,564 L732* probably null Het
Pcdhb10 T C 18: 37,412,624 I251T possibly damaging Het
Plcg1 T A 2: 160,755,805 M789K possibly damaging Het
Pom121l2 T C 13: 21,984,247 I896T probably benign Het
Ptpn4 T C 1: 119,684,591 D24G probably damaging Het
Rbp3 C T 14: 33,956,018 T641M probably damaging Het
Rhebl1 A T 15: 98,878,286 D162E probably benign Het
Runx1t1 T C 4: 13,771,501 V15A probably benign Het
Serpina10 T A 12: 103,626,743 I291F probably benign Het
Slc23a2 A G 2: 132,091,259 I93T possibly damaging Het
Slc25a29 T C 12: 108,826,926 E242G probably benign Het
Sulf1 A C 1: 12,796,794 R67S probably benign Het
Syne2 A G 12: 75,927,466 E1146G possibly damaging Het
Tmem45a A T 16: 56,823,519 L89Q probably damaging Het
Top3a A C 11: 60,745,874 V655G possibly damaging Het
Ttc23l A G 15: 10,523,592 I347T possibly 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
IGL02814:Rbm28 APN 6 29159726 missense probably benign 0.34
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
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
Predicted Primers PCR Primer
(F):5'- GACAGACAGACAGTTCCCAG -3'
(R):5'- CTCTGCTGGGTACTGTAAGG -3'

Sequencing Primer
(F):5'- AGAAAACCTGTTGACTTGCTGGC -3'
(R):5'- TGCCTAACAGATGTGCTG -3'
Posted On2014-10-16