Incidental Mutation 'IGL01640:Snrpb'
ID 93108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrpb
Ensembl Gene ENSMUSG00000027404
Gene Name small nuclear ribonucleoprotein B
Synonyms SM-B, SNRNP-B, SM11, SMB
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL01640
Quality Score
Status
Chromosome 2
Chromosomal Location 130013555-130021323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130017251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 89 (D89G)
Ref Sequence ENSEMBL: ENSMUSP00000099488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103199] [ENSMUST00000147570]
AlphaFold P27048
Predicted Effect probably benign
Transcript: ENSMUST00000103199
AA Change: D89G

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099488
Gene: ENSMUSG00000027404
AA Change: D89G

DomainStartEndE-ValueType
Sm 7 82 1.06e-24 SMART
low complexity region 98 117 N/A INTRINSIC
low complexity region 151 164 N/A INTRINSIC
low complexity region 169 229 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139225
Predicted Effect probably benign
Transcript: ENSMUST00000147570
SMART Domains Protein: ENSMUSP00000143633
Gene: ENSMUSG00000027404

DomainStartEndE-ValueType
Sm 7 64 6.9e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150835
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 one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,373,587 (GRCm39) T3A probably damaging Het
4933402N03Rik A T 7: 130,740,848 (GRCm39) S123T possibly damaging Het
Adamts17 A T 7: 66,679,428 (GRCm39) T559S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Arel1 G A 12: 84,967,475 (GRCm39) T783M probably damaging Het
B3gntl1 C T 11: 121,563,846 (GRCm39) E5K probably benign Het
Faf1 T A 4: 109,697,600 (GRCm39) F309I probably damaging Het
Fhod3 T G 18: 25,248,850 (GRCm39) M1343R probably benign Het
Fnbp1 A G 2: 30,995,303 (GRCm39) F44L probably damaging Het
Gm3633 A T 14: 42,460,324 (GRCm39) Y206* probably null Het
Gprc6a A C 10: 51,503,180 (GRCm39) F228V probably damaging Het
Il31ra T C 13: 112,668,292 (GRCm39) I453V possibly damaging Het
Kif2a A G 13: 107,111,060 (GRCm39) I529T probably damaging Het
Lrrc19 C T 4: 94,526,745 (GRCm39) V271I probably damaging Het
Ncaph2 A G 15: 89,248,041 (GRCm39) probably null Het
Nek5 A G 8: 22,610,856 (GRCm39) I49T probably benign Het
Nhlrc3 A T 3: 53,360,958 (GRCm39) probably benign Het
Or51ac3 A G 7: 103,214,228 (GRCm39) V86A probably damaging Het
Or52n20 A T 7: 104,320,871 (GRCm39) S321C probably damaging Het
Or8g28 C A 9: 39,169,559 (GRCm39) M136I probably damaging Het
Pcnx2 T C 8: 126,528,297 (GRCm39) T1308A probably benign Het
Pla2g6 T C 15: 79,188,513 (GRCm39) N448S probably benign Het
Pole T A 5: 110,446,132 (GRCm39) L571Q probably null Het
Rufy1 A G 11: 50,281,205 (GRCm39) probably benign Het
Sftpd C A 14: 40,894,592 (GRCm39) A276S probably benign Het
Slc35f4 A C 14: 49,556,225 (GRCm39) V176G probably damaging Het
Stab2 A T 10: 86,790,035 (GRCm39) V577D probably benign Het
Synrg A C 11: 83,872,334 (GRCm39) S152R probably damaging Het
Trgv7 T C 13: 19,362,260 (GRCm39) probably benign Het
Trpm1 A G 7: 63,876,645 (GRCm39) E682G probably damaging Het
Unc80 T C 1: 66,718,744 (GRCm39) I2989T probably benign Het
Vmn1r116 A G 7: 20,606,373 (GRCm39) T65A probably benign Het
Zfp469 G A 8: 122,998,009 (GRCm39) probably benign Het
Other mutations in Snrpb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3622:Snrpb UTSW 2 130,017,299 (GRCm39) missense probably null 0.87
R3624:Snrpb UTSW 2 130,017,299 (GRCm39) missense probably null 0.87
R5905:Snrpb UTSW 2 130,021,196 (GRCm39) start gained probably benign
R7574:Snrpb UTSW 2 130,018,939 (GRCm39) missense probably benign 0.18
R8472:Snrpb UTSW 2 130,015,042 (GRCm39) missense probably damaging 0.96
Posted On 2013-12-09