Incidental Mutation 'IGL02213:Sbspon'
ID284738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sbspon
Ensembl Gene ENSMUSG00000032719
Gene Namesomatomedin B and thrombospondin, type 1 domain containing
SynonymsGm106, LOC226866
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL02213
Quality Score
Status
Chromosome1
Chromosomal Location15853862-15892722 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 15858926 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 214 (S214G)
Ref Sequence ENSEMBL: ENSMUSP00000047730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040695]
Predicted Effect probably benign
Transcript: ENSMUST00000040695
AA Change: S214G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000047730
Gene: ENSMUSG00000032719
AA Change: S214G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Blast:SO 25 74 2e-13 BLAST
TSP1 77 133 4.82e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194867
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 G A 9: 54,615,970 R458C probably damaging Het
Aldh6a1 T A 12: 84,432,552 probably benign Het
Ankrd13a C T 5: 114,785,968 R42W probably damaging Het
Arhgef17 T C 7: 100,890,426 M73V probably benign Het
Borcs6 A G 11: 69,059,853 E19G probably benign Het
Cacna2d2 C T 9: 107,514,048 R425C probably damaging Het
Cap2 T A 13: 46,635,611 probably benign Het
Ccdc146 C T 5: 21,316,904 R374H probably benign Het
Cdk5rap2 A G 4: 70,317,602 probably benign Het
Cyp3a57 A G 5: 145,381,280 D357G probably damaging Het
Dleu7 C T 14: 62,276,955 V193M probably benign Het
Dmxl1 T A 18: 49,877,674 probably benign Het
Dnah7b T A 1: 46,233,592 F2293L probably damaging Het
Fgf22 G T 10: 79,756,615 V75L probably damaging Het
Fras1 C A 5: 96,645,871 C1017* probably null Het
Frmd3 A C 4: 74,135,872 I173L probably benign Het
Fst T C 13: 114,455,854 N109S possibly damaging Het
Greb1 A G 12: 16,706,232 L801P probably damaging Het
Ift88 A G 14: 57,478,045 D515G probably damaging Het
Kcnh7 T C 2: 62,739,362 D730G probably damaging Het
Mbd1 A T 18: 74,275,382 I231F probably damaging Het
Mre11a T A 9: 14,811,884 F358I probably damaging Het
Mroh9 G T 1: 163,058,079 T328K probably damaging Het
Nostrin T C 2: 69,183,918 L406P probably benign Het
Ntrk3 T A 7: 78,462,931 Q159L probably benign Het
Oca2 T C 7: 56,321,484 probably benign Het
Olfr1299 A T 2: 111,664,675 T150S probably benign Het
Olfr474 T C 7: 107,955,304 I221T probably damaging Het
Olfr609 T A 7: 103,492,488 H130L probably benign Het
Pfdn4 C T 2: 170,515,775 Q21* probably null Het
Pkd1l3 T C 8: 109,631,345 F823S probably damaging Het
Rnf212 C T 5: 108,747,410 probably benign Het
Slc12a7 T C 13: 73,797,703 probably null Het
Ugt3a2 A T 15: 9,370,224 M485L probably benign Het
Vav1 T C 17: 57,305,351 V561A possibly damaging Het
Vldlr A G 19: 27,241,326 T485A probably benign Het
Wiz T C 17: 32,367,860 T159A probably benign Het
Other mutations in Sbspon
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Sbspon APN 1 15858934 missense probably benign 0.24
IGL02929:Sbspon APN 1 15883845 splice site probably benign
R1580:Sbspon UTSW 1 15892468 missense probably damaging 1.00
R1647:Sbspon UTSW 1 15883759 missense probably damaging 1.00
R1648:Sbspon UTSW 1 15883759 missense probably damaging 1.00
R1952:Sbspon UTSW 1 15860295 missense probably damaging 1.00
R3105:Sbspon UTSW 1 15892582 missense probably benign 0.06
R3106:Sbspon UTSW 1 15892582 missense probably benign 0.06
R3712:Sbspon UTSW 1 15892445 missense probably damaging 0.97
R4850:Sbspon UTSW 1 15858968 missense probably damaging 0.98
R4855:Sbspon UTSW 1 15859040 missense possibly damaging 0.94
R6374:Sbspon UTSW 1 15883663 missense probably benign
R6953:Sbspon UTSW 1 15860295 missense probably damaging 0.97
Posted On2015-04-16