Incidental Mutation 'R4850:Sbspon'
ID373437
Institutional Source Beutler Lab
Gene Symbol Sbspon
Ensembl Gene ENSMUSG00000032719
Gene Namesomatomedin B and thrombospondin, type 1 domain containing
SynonymsGm106, LOC226866
MMRRC Submission 042462-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #R4850 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location15853862-15892722 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 15858968 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 200 (T200S)
Ref Sequence ENSEMBL: ENSMUSP00000047730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040695]
Predicted Effect probably damaging
Transcript: ENSMUST00000040695
AA Change: T200S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047730
Gene: ENSMUSG00000032719
AA Change: T200S

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
Meta Mutation Damage Score 0.1323 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,262,938 S3012P unknown Het
Abcb10 C T 8: 123,982,690 A42T probably benign Het
Acsf3 T C 8: 122,817,436 V551A probably damaging Het
Adgrl2 G A 3: 148,859,020 T304I probably damaging Het
Akr1d1 A G 6: 37,554,587 probably null Het
Ankrd17 A T 5: 90,264,786 H1226Q probably damaging Het
Arap1 T C 7: 101,398,791 I847T probably damaging Het
Atad2b G A 12: 4,943,251 G257S probably benign Het
Cand2 A T 6: 115,801,948 T1158S probably benign Het
Cic G A 7: 25,272,902 R686H probably damaging Het
Cldn1 T A 16: 26,363,163 T99S probably benign Het
Cnga3 G T 1: 37,258,006 E173* probably null Het
Cryge G T 1: 65,051,052 probably benign Het
Dsp T A 13: 38,192,469 L1410H probably damaging Het
Dync2h1 T C 9: 7,134,364 T1548A probably benign Het
Dysf C A 6: 84,097,715 D499E probably damaging Het
Eml5 T C 12: 98,790,619 D1917G probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fam71d A G 12: 78,715,153 D197G probably damaging Het
Fn3krp A T 11: 121,425,053 H90L possibly damaging Het
Gm10718 A T 9: 3,023,716 T56S probably benign Het
Gm4847 A T 1: 166,642,339 I55K probably damaging Het
Gsn T A 2: 35,283,900 probably null Het
Haghl T C 17: 25,783,006 probably benign Het
Hist1h2bj G T 13: 22,043,251 probably benign Het
Hmg20b T A 10: 81,346,927 E139V probably damaging Het
Hsd3b6 G A 3: 98,807,905 T57I probably benign Het
Igkv5-48 A G 6: 69,726,796 S42P probably damaging Het
Igsf23 T C 7: 19,953,934 probably benign Het
Kcnt1 T C 2: 25,908,100 F874L probably damaging Het
Maf1 T C 15: 76,352,962 F110L possibly damaging Het
Mtpap C T 18: 4,387,044 R365W probably damaging Het
Mtus1 A C 8: 41,084,470 S70A possibly damaging Het
Nfatc1 T A 18: 80,697,865 T307S probably benign Het
Nphs1 T G 7: 30,463,232 S379A possibly damaging Het
Nup205 A G 6: 35,230,530 T1506A probably benign Het
Olfr1044 T A 2: 86,171,671 I49F probably damaging Het
Olfr275 T C 4: 52,825,450 S18P possibly damaging Het
Pcdhga8 A T 18: 37,727,709 Y606F probably damaging Het
Pde7a A G 3: 19,243,117 V123A probably benign Het
Pex1 C T 5: 3,624,426 T809I probably benign Het
Prdm13 C A 4: 21,678,243 R749L possibly damaging Het
Prkcd A G 14: 30,599,743 L498P probably damaging Het
Pros1 A T 16: 62,885,524 E67V probably damaging Het
Rab44 A G 17: 29,140,089 E417G possibly damaging Het
Rangrf A G 11: 68,973,640 probably null Het
Rp1 T A 1: 4,348,675 K738M probably damaging Het
Ryr2 A T 13: 11,668,820 D3119E probably damaging Het
Ryr2 G A 13: 11,745,752 R1482C probably damaging Het
Sfxn5 T C 6: 85,332,376 probably benign Het
Slc26a8 T A 17: 28,654,883 I377F probably benign Het
Slc30a7 A G 3: 115,993,008 F72L probably damaging Het
Slc32a1 T C 2: 158,614,192 F256L possibly damaging Het
Slco6b1 T C 1: 96,911,833 noncoding transcript Het
Smpd1 A G 7: 105,555,985 H357R probably benign Het
Sncaip A T 18: 52,871,384 H361L probably damaging Het
Tenm2 A C 11: 36,023,488 Y2406* probably null Het
Terb1 T A 8: 104,485,425 H308L probably benign Het
Trim61 A T 8: 65,013,418 L397H probably damaging Het
Trp53bp1 T A 2: 121,205,113 probably null Het
Ttn T G 2: 76,781,555 E9007D possibly damaging Het
Urb1 A T 16: 90,795,414 C319* probably null Het
Vmn2r95 T C 17: 18,451,653 Y551H probably damaging Het
Vwde A T 6: 13,196,048 V326D possibly damaging Het
Xdh A G 17: 73,898,335 L1045P probably damaging Het
Zfp638 T C 6: 83,979,475 I1688T possibly damaging Het
Zwint T A 10: 72,655,956 probably benign 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
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
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
R7255:Sbspon UTSW 1 15883797 nonsense probably null
R7678:Sbspon UTSW 1 15859058 missense probably benign
R7828:Sbspon UTSW 1 15860319 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGCCCTGGATCTGAGTCC -3'
(R):5'- TGACATGGCTCCTCCTTAAGAC -3'

Sequencing Primer
(F):5'- TGGATCTGAGTCCCTGGACAG -3'
(R):5'- AAGACTTCCTACAGTATTGGGCC -3'
Posted On2016-03-01