Incidental Mutation 'IGL03268:Spsb2'
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ID415176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spsb2
Ensembl Gene ENSMUSG00000038451
Gene NamesplA/ryanodine receptor domain and SOCS box containing 2
SynonymsGrcc9, SSB2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL03268
Quality Score
Status
Chromosome6
Chromosomal Location124808661-124810619 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124809487 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 61 (E61G)
Ref Sequence ENSEMBL: ENSMUSP00000118347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047760] [ENSMUST00000052727] [ENSMUST00000112473] [ENSMUST00000130160] [ENSMUST00000143040] [ENSMUST00000149610] [ENSMUST00000172132]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047760
AA Change: E61G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451
AA Change: E61G

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
SOCS 219 264 7.93e-13 SMART
SOCS_box 225 264 8.27e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000052727
AA Change: E61G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451
AA Change: E61G

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
SOCS 219 264 7.93e-13 SMART
SOCS_box 225 264 8.27e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112473
AA Change: E61G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451
AA Change: E61G

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130160
AA Change: E61G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451
AA Change: E61G

DomainStartEndE-ValueType
SPRY 86 208 1.1e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139716
Predicted Effect probably damaging
Transcript: ENSMUST00000143040
AA Change: E61G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451
AA Change: E61G

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149610
SMART Domains Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456

DomainStartEndE-ValueType
Pfam:TIM 1 163 1.1e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154883
Predicted Effect probably benign
Transcript: ENSMUST00000172132
SMART Domains Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456

DomainStartEndE-ValueType
Pfam:TIM 57 295 9.2e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204602
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the SSB family of proteins that contain a central SPRY (repeats in splA and ryanodine receptors) domain and a C-terminal SOCS (suppressor of cytokine signaling) box. The encoded protein is an adaptor protein in the E3 ubiquitin ligase complex that ubiquitinates inducible nitric oxide synthase and targets it for proteasomal degradation. Mice lacking the encoded protein exhibit lower blood urea nitrogen levels and mild thrombocytopenia due to reduced platelet production. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice exhibit mild thrombocytopenia and decreased blood urea nitrogen levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Anxa5 T C 3: 36,450,679 I245V probably benign Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dcn A G 10: 97,483,378 I6V probably benign Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mbnl2 G T 14: 120,379,157 C61F probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr594 T G 7: 103,220,641 F308V probably benign Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Prl8a2 A G 13: 27,353,955 K204R probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Rsrc2 T A 5: 123,740,727 K56* probably null Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc29a2 C T 19: 5,024,503 probably benign Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Srr A G 11: 74,913,117 Y5H probably benign Het
Suclg2 T C 6: 95,569,592 D301G probably damaging Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Tpst2 T C 5: 112,308,225 V210A probably damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign Het
Other mutations in Spsb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB004:Spsb2 UTSW 6 124809373 missense probably benign 0.07
BB014:Spsb2 UTSW 6 124809373 missense probably benign 0.07
R0557:Spsb2 UTSW 6 124810392 missense probably damaging 1.00
R1752:Spsb2 UTSW 6 124810329 missense probably benign 0.01
R1993:Spsb2 UTSW 6 124809366 splice site probably null
R1994:Spsb2 UTSW 6 124809366 splice site probably null
R2010:Spsb2 UTSW 6 124810376 missense probably damaging 0.98
R3764:Spsb2 UTSW 6 124809555 missense probably damaging 1.00
R4914:Spsb2 UTSW 6 124809748 missense probably benign 0.00
R4918:Spsb2 UTSW 6 124809748 missense probably benign 0.00
R5983:Spsb2 UTSW 6 124809748 missense probably benign 0.00
R7107:Spsb2 UTSW 6 124810281 missense probably benign
R7732:Spsb2 UTSW 6 124809693 missense probably damaging 1.00
R7927:Spsb2 UTSW 6 124809373 missense probably benign 0.07
Posted On2016-08-02