Incidental Mutation 'R6953:Sbspon'
ID 541290
Institutional Source Beutler Lab
Gene Symbol Sbspon
Ensembl Gene ENSMUSG00000032719
Gene Name somatomedin B and thrombospondin, type 1 domain containing
Synonyms Gm106, LOC226866
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6953 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 15853862-15892722 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15860295 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 156 (S156T)
Ref Sequence ENSEMBL: ENSMUSP00000047730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040695]
AlphaFold Q3UPR9
Predicted Effect probably damaging
Transcript: ENSMUST00000040695
AA Change: S156T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047730
Gene: ENSMUSG00000032719
AA Change: S156T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Blast:SO 25 74 2e-13 BLAST
TSP1 77 133 4.82e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik C A 15: 58,028,827 S128I probably damaging Het
Aadacl2 A C 3: 60,024,760 H232P possibly damaging Het
Abcc3 A G 11: 94,374,835 Y125H probably benign Het
Adgrb3 A G 1: 25,826,511 S84P probably damaging Het
Adgrd1 A T 5: 129,115,078 K71* probably null Het
Ap2m1 T A 16: 20,542,718 W381R probably damaging Het
Ascc3 A G 10: 50,645,666 I426V probably benign Het
BC024063 T A 10: 82,107,899 D31E possibly damaging Het
C3ar1 G A 6: 122,850,632 H209Y possibly damaging Het
Ccp110 T C 7: 118,722,421 V433A possibly damaging Het
Cfap54 A G 10: 92,994,678 S1199P probably benign Het
Cyp24a1 T G 2: 170,487,946 D362A probably benign Het
Dapk2 C G 9: 66,254,622 R271G probably benign Het
Dnmt1 G T 9: 20,918,526 Q633K probably benign Het
Ercc4 T A 16: 13,130,686 V499D probably damaging Het
Ier3ip1 C G 18: 76,939,613 P46R probably damaging Het
Ifi211 T C 1: 173,906,266 T110A probably damaging Het
Isoc1 A G 18: 58,671,302 D134G possibly damaging Het
Kif26b A G 1: 178,874,072 D672G possibly damaging Het
Klhl33 T A 14: 50,891,516 D752V possibly damaging Het
Lcn4 A G 2: 26,669,355 Y133H probably benign Het
Mrs2 C A 13: 25,001,788 V134L probably benign Het
Muc16 T C 9: 18,640,529 T4823A probably benign Het
Ogfod3 A G 11: 121,202,998 I62T probably benign Het
Olfr1380 A G 11: 49,564,290 Y123C probably damaging Het
Olfr165 C T 16: 19,407,528 V164I probably benign Het
Olfr773 A T 10: 129,186,605 M272K probably benign Het
Olfr869 A T 9: 20,138,003 I296L probably benign Het
Papln G A 12: 83,781,885 W788* probably null Het
Pcdhac2 A G 18: 37,144,426 Q153R probably benign Het
Pcdhgb2 C T 18: 37,690,754 T266I possibly damaging Het
Pcdhgc5 C A 18: 37,820,461 R263S possibly damaging Het
Phactr4 T C 4: 132,377,351 T185A possibly damaging Het
Plcxd2 T C 16: 45,980,519 D114G probably damaging Het
Polr2a A T 11: 69,741,711 I987N probably damaging Het
Prl3d3 A G 13: 27,161,046 M134V probably benign Het
Pum2 T A 12: 8,728,779 probably null Het
Racgap1 T C 15: 99,626,329 E399G probably damaging Het
Scn1a T C 2: 66,319,469 T927A probably damaging Het
Sec23ip C A 7: 128,752,796 S78* probably null Het
Serpina1d G A 12: 103,767,730 T105I probably benign Het
Slc25a21 T A 12: 57,159,169 N26Y probably benign Het
Smim20 T A 5: 53,277,916 D64E probably damaging Het
Spag17 T G 3: 100,034,975 I772S possibly damaging Het
Tars2 T C 3: 95,753,114 T99A possibly damaging Het
Tdrd1 C T 19: 56,831,371 T101I probably damaging Het
Tldc2 T G 2: 157,089,278 probably null Het
Ttn A G 2: 76,771,585 Y10251H probably damaging Het
Ush2a A G 1: 188,263,145 R38G possibly damaging Het
Usp19 T C 9: 108,498,931 L991P possibly damaging Het
Vmn2r109 G A 17: 20,540,711 P795S possibly damaging Het
Vmn2r26 T C 6: 124,039,782 Y402H probably benign Het
Vmn2r-ps117 T G 17: 18,824,833 I504R probably benign Het
Zfp551 A T 7: 12,416,788 C231* probably null Het
Zfp607a T A 7: 27,878,365 C287S possibly damaging Het
Zim1 T A 7: 6,687,707 T40S unknown 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
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
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
R9471:Sbspon UTSW 1 15892453 missense probably benign
Predicted Primers PCR Primer
(F):5'- CATTCACTCTTTCTGAAAGACTGGG -3'
(R):5'- TGCCACTAAGATCTTTGGCTATGG -3'

Sequencing Primer
(F):5'- CTCTTTCTGAAAGACTGGGAAAGCC -3'
(R):5'- TTGGCTATGGAATCAGAGATCTCAG -3'
Posted On 2018-11-28