Incidental Mutation 'IGL01640:Snrpb'
ID93108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrpb
Ensembl Gene ENSMUSG00000027404
Gene Namesmall nuclear ribonucleoprotein B
SynonymsSNRNP-B, SM-B, SMB, SM11
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL01640
Quality Score
Status
Chromosome2
Chromosomal Location130171414-130179403 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 130175331 bp
ZygosityHeterozygous
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]
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: 124,579,938 T3A probably damaging Het
4933402N03Rik A T 7: 131,139,119 S123T possibly damaging Het
Adamts17 A T 7: 67,029,680 T559S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Arel1 G A 12: 84,920,701 T783M probably damaging Het
B3gntl1 C T 11: 121,673,020 E5K probably benign Het
Faf1 T A 4: 109,840,403 F309I probably damaging Het
Fhod3 T G 18: 25,115,793 M1343R probably benign Het
Fnbp1 A G 2: 31,105,291 F44L probably damaging Het
Gm3633 A T 14: 42,638,367 Y206* probably null Het
Gprc6a A C 10: 51,627,084 F228V probably damaging Het
Il31ra T C 13: 112,531,758 I453V possibly damaging Het
Kif2a A G 13: 106,974,552 I529T probably damaging Het
Lrrc19 C T 4: 94,638,508 V271I probably damaging Het
Ncaph2 A G 15: 89,363,838 probably null Het
Nek5 A G 8: 22,120,840 I49T probably benign Het
Nhlrc3 A T 3: 53,453,537 probably benign Het
Olfr616 A G 7: 103,565,021 V86A probably damaging Het
Olfr659 A T 7: 104,671,664 S321C probably damaging Het
Olfr945 C A 9: 39,258,263 M136I probably damaging Het
Pcnx2 T C 8: 125,801,558 T1308A probably benign Het
Pla2g6 T C 15: 79,304,313 N448S probably benign Het
Pole T A 5: 110,298,266 L571Q probably null Het
Rufy1 A G 11: 50,390,378 probably benign Het
Sftpd C A 14: 41,172,635 A276S probably benign Het
Slc35f4 A C 14: 49,318,768 V176G probably damaging Het
Stab2 A T 10: 86,954,171 V577D probably benign Het
Synrg A C 11: 83,981,508 S152R probably damaging Het
Tcrg-V7 T C 13: 19,178,090 probably benign Het
Trpm1 A G 7: 64,226,897 E682G probably damaging Het
Unc80 T C 1: 66,679,585 I2989T probably benign Het
Vmn1r116 A G 7: 20,872,448 T65A probably benign Het
Zfp469 G A 8: 122,271,270 probably benign Het
Other mutations in Snrpb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3622:Snrpb UTSW 2 130175379 missense probably null 0.87
R3624:Snrpb UTSW 2 130175379 missense probably null 0.87
R5905:Snrpb UTSW 2 130179276 start gained probably benign
R7574:Snrpb UTSW 2 130177019 missense probably benign 0.18
R8472:Snrpb UTSW 2 130173122 missense probably damaging 0.96
Posted On2013-12-09