Incidental Mutation 'R1580:Sbspon'
ID171331
Institutional Source Beutler Lab
Gene Symbol Sbspon
Ensembl Gene ENSMUSG00000032719
Gene Namesomatomedin B and thrombospondin, type 1 domain containing
SynonymsGm106, LOC226866
MMRRC Submission 039617-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #R1580 (G1)
Quality Score171
Status Validated
Chromosome1
Chromosomal Location15853862-15892722 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 15892468 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 62 (C62F)
Ref Sequence ENSEMBL: ENSMUSP00000047730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040695]
Predicted Effect probably damaging
Transcript: ENSMUST00000040695
AA Change: C62F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047730
Gene: ENSMUSG00000032719
AA Change: C62F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Blast:SO 25 74 2e-13 BLAST
TSP1 77 133 4.82e-2 SMART
Meta Mutation Damage Score 0.652 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,265,965 V2044I possibly damaging Het
Adgrv1 A G 13: 81,466,160 probably null Het
Arhgef38 T C 3: 133,133,704 Q526R probably benign Het
Atp2c2 A G 8: 119,752,987 N752D probably benign Het
Atp6v0a1 T C 11: 101,029,204 I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 V551A possibly damaging Het
B3galnt1 A G 3: 69,575,707 S74P possibly damaging Het
Bcl2l13 A G 6: 120,865,714 I123V probably benign Het
Brms1l A T 12: 55,868,222 K305N probably damaging Het
Ccdc82 C T 9: 13,252,760 R226C probably damaging Het
Chst9 T G 18: 15,453,065 K147T probably benign Het
Clec16a A G 16: 10,595,898 R390G probably damaging Het
Clec5a G T 6: 40,585,219 H4N probably benign Het
Csmd1 T A 8: 15,925,299 Q2970L probably damaging Het
Cyp2a4 T C 7: 26,307,651 I61T possibly damaging Het
Cyp3a16 T A 5: 145,442,074 K379I possibly damaging Het
Cyp3a16 T C 5: 145,442,075 K379E probably damaging Het
Dok2 A G 14: 70,776,957 D195G probably benign Het
Emilin1 A G 5: 30,917,420 E335G probably damaging Het
Fam205c T C 4: 42,874,020 probably null Het
Gm7361 G T 5: 26,257,770 L3F probably damaging Het
Haus1 T C 18: 77,766,920 D50G probably damaging Het
Igf1r T C 7: 68,207,869 V1099A probably benign Het
Kif15 T C 9: 122,959,956 V71A probably benign Het
Klk10 C T 7: 43,782,862 A73V probably damaging Het
Lins1 C A 7: 66,714,491 D711E probably benign Het
Mbtps1 C T 8: 119,538,900 V303I possibly damaging Het
Mest G A 6: 30,745,823 probably benign Het
Nup214 C T 2: 32,034,466 S1669F probably damaging Het
Olfr299 A G 7: 86,465,450 E13G probably benign Het
Olfr800 G T 10: 129,660,315 V170F probably benign Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Rtf2 A G 2: 172,445,365 D68G probably damaging Het
Spg7 T A 8: 123,090,238 probably benign Het
Trabd2b T C 4: 114,580,334 V236A possibly damaging Het
Vmn2r10 A T 5: 109,006,251 N62K possibly damaging Het
Vmn2r45 T G 7: 8,471,747 S761R possibly damaging Het
Zfp580 C T 7: 5,053,285 R215C probably damaging Het
Zfpm2 A G 15: 41,103,209 D898G possibly damaging Het
Other mutations in Sbspon
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Sbspon APN 1 15858934 missense probably benign 0.24
IGL02213:Sbspon APN 1 15858926 missense probably benign 0.02
IGL02929:Sbspon APN 1 15883845 splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- AGGCCCCAGGTGACTCTATGAAG -3'
(R):5'- CCATGAAGACCCTGTGGATGGTG -3'

Sequencing Primer
(F):5'- GGTGATCCCCACAGATGTTAG -3'
(R):5'- TGGTGCTGTGCGCTCTG -3'
Posted On2014-04-13