Incidental Mutation 'R6523:Spon1'
ID 521493
Institutional Source Beutler Lab
Gene Symbol Spon1
Ensembl Gene ENSMUSG00000038156
Gene Name spondin 1, (f-spondin) extracellular matrix protein
Synonyms FSP, D330035F22Rik
MMRRC Submission 044649-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # R6523 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 113365235-113642605 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113486018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 189 (D189E)
Ref Sequence ENSEMBL: ENSMUSP00000081746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046687] [ENSMUST00000084696]
AlphaFold Q8VCC9
Predicted Effect probably benign
Transcript: ENSMUST00000046687
AA Change: D189E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: D189E

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Reeler 44 172 1e-24 PFAM
Pfam:Spond_N 205 399 7.5e-74 PFAM
low complexity region 431 442 N/A INTRINSIC
TSP1 445 495 7.92e-8 SMART
TSP1 504 555 6.57e-14 SMART
TSP1 561 611 2.29e-13 SMART
TSP1 617 666 1.45e-15 SMART
TSP1 671 721 1.21e-12 SMART
low complexity region 730 747 N/A INTRINSIC
TSP1 757 806 3.12e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084696
AA Change: D189E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081746
Gene: ENSMUSG00000038156
AA Change: D189E

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Reeler 43 173 1.5e-35 PFAM
Pfam:Spond_N 204 281 1.3e-31 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 97% (68/70)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display increased trabecular and cortical bone mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 A G 1: 173,160,120 (GRCm39) probably null Het
Alg2 A T 4: 47,472,071 (GRCm39) S246T possibly damaging Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Arid4a A G 12: 71,114,115 (GRCm39) probably null Het
AU040320 G A 4: 126,762,553 (GRCm39) probably null Het
B430306N03Rik A G 17: 48,626,193 (GRCm39) T129A possibly damaging Het
Blvrb C A 7: 27,165,142 (GRCm39) probably null Het
Ccdc175 T C 12: 72,191,565 (GRCm39) N337S probably benign Het
Ccdc28b A C 4: 129,514,780 (GRCm39) F110V probably damaging Het
Cd200 A G 16: 45,220,633 (GRCm39) Y16H probably benign Het
Cfh T G 1: 140,029,445 (GRCm39) E950A possibly damaging Het
Clec3a A T 8: 115,152,345 (GRCm39) Y117F probably damaging Het
CN725425 A G 15: 91,115,784 (GRCm39) S9G probably benign Het
Coasy T A 11: 100,976,944 (GRCm39) W535R probably damaging Het
Cox4i1 T A 8: 121,399,480 (GRCm39) S30R probably benign Het
Csnk1a1 G A 18: 61,688,829 (GRCm39) S3N probably benign Het
Dcst2 C G 3: 89,280,808 (GRCm39) L669V probably benign Het
Dnah14 A G 1: 181,471,186 (GRCm39) I1346V probably benign Het
Fbxw24 G A 9: 109,434,048 (GRCm39) R421* probably null Het
Fstl5 G A 3: 76,443,641 (GRCm39) V329I probably benign Het
Gli3 T C 13: 15,888,235 (GRCm39) probably null Het
Gna11 A T 10: 81,380,688 (GRCm39) I25N probably damaging Het
Greb1 C T 12: 16,734,374 (GRCm39) V1539I possibly damaging Het
Hipk3 T A 2: 104,269,753 (GRCm39) T479S possibly damaging Het
Hspa1b A G 17: 35,176,167 (GRCm39) I606T probably benign Het
Idnk T A 13: 58,311,457 (GRCm39) F141L probably damaging Het
Ifit3 A G 19: 34,565,555 (GRCm39) N367S probably benign Het
Kcnn1 A T 8: 71,299,169 (GRCm39) D448E possibly damaging Het
Krt14 T C 11: 100,095,923 (GRCm39) T212A possibly damaging Het
Ldlr G A 9: 21,648,549 (GRCm39) C285Y probably damaging Het
Mark3 G A 12: 111,593,669 (GRCm39) V234I probably damaging Het
Meikin T A 11: 54,289,327 (GRCm39) Y233* probably null Het
Mtcl2 G A 2: 156,902,263 (GRCm39) Q251* probably null Het
Muc20 T C 16: 32,613,820 (GRCm39) D519G possibly damaging Het
Nalcn T A 14: 123,555,255 (GRCm39) H876L probably benign Het
Ncaph A T 2: 126,947,809 (GRCm39) I698K probably damaging Het
Nipal1 A T 5: 72,824,951 (GRCm39) I215F probably damaging Het
Nrde2 A T 12: 100,100,664 (GRCm39) D607E possibly damaging Het
Nt5dc2 T C 14: 30,857,662 (GRCm39) F217S probably damaging Het
Ntsr2 T A 12: 16,706,697 (GRCm39) S156T probably benign Het
Or13c9 A T 4: 52,935,500 (GRCm39) I261N probably damaging Het
Or5b110-ps1 A C 19: 13,259,728 (GRCm39) D231E probably benign Het
Or5p4 A C 7: 107,680,762 (GRCm39) T254P probably benign Het
Pfas A T 11: 68,881,283 (GRCm39) I1028K probably benign Het
Pnpla5 C A 15: 83,999,912 (GRCm39) R329L possibly damaging Het
Pramel30 T C 4: 144,058,218 (GRCm39) V275A probably benign Het
Rhot2 A G 17: 26,058,394 (GRCm39) V393A possibly damaging Het
Rigi T A 4: 40,205,947 (GRCm39) T882S probably benign Het
Rnase9 T A 14: 51,276,684 (GRCm39) Y98F possibly damaging Het
Sacs C A 14: 61,440,410 (GRCm39) L819I probably damaging Het
Sall3 C T 18: 81,016,403 (GRCm39) M508I possibly damaging Het
Scube3 G A 17: 28,381,362 (GRCm39) C301Y probably damaging Het
Sgo2b G T 8: 64,380,538 (GRCm39) H765N probably benign Het
Sh3gl1 A T 17: 56,324,617 (GRCm39) Y344N possibly damaging Het
Slc15a2 A G 16: 36,572,683 (GRCm39) V635A probably benign Het
Slc1a4 T A 11: 20,282,114 (GRCm39) Y40F probably damaging Het
Slc4a10 A T 2: 62,117,305 (GRCm39) K755* probably null Het
Slco1a5 C T 6: 142,212,121 (GRCm39) G38R probably damaging Het
Snx25 T A 8: 46,508,892 (GRCm39) D564V probably damaging Het
Sptbn5 T C 2: 119,896,095 (GRCm39) probably null Het
Ssbp2 A G 13: 91,841,170 (GRCm39) I317V probably benign Het
Stil AAGATTTCCAG A 4: 114,889,911 (GRCm39) probably null Het
Strn3 A T 12: 51,689,881 (GRCm39) probably null Het
Tcaf2 A T 6: 42,619,953 (GRCm39) F25I probably benign Het
Themis C T 10: 28,657,894 (GRCm39) T154I possibly damaging Het
Ttn T C 2: 76,626,390 (GRCm39) R13176G probably damaging Het
Utp4 G A 8: 107,625,095 (GRCm39) V125M probably damaging Het
Vmn1r119 T A 7: 20,745,777 (GRCm39) M202L possibly damaging Het
Zfp292 G C 4: 34,816,301 (GRCm39) F329L probably benign Het
Zfp541 C T 7: 15,829,445 (GRCm39) P1281L probably damaging Het
Zfp616 A T 11: 73,973,968 (GRCm39) Q79L possibly damaging Het
Other mutations in Spon1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Spon1 APN 7 113,633,525 (GRCm39) missense probably damaging 1.00
IGL02385:Spon1 APN 7 113,365,567 (GRCm39) start codon destroyed probably null 0.56
IGL02496:Spon1 APN 7 113,635,897 (GRCm39) missense probably benign 0.00
IGL02562:Spon1 APN 7 113,635,996 (GRCm39) missense probably benign 0.12
IGL03063:Spon1 APN 7 113,632,260 (GRCm39) missense possibly damaging 0.85
IGL03153:Spon1 APN 7 113,629,579 (GRCm39) missense probably damaging 1.00
IGL03392:Spon1 APN 7 113,633,522 (GRCm39) missense probably damaging 0.99
Rust UTSW 7 113,616,024 (GRCm39) missense possibly damaging 0.77
Wilt UTSW 7 113,365,621 (GRCm39) missense probably damaging 0.98
R0512:Spon1 UTSW 7 113,436,066 (GRCm39) missense possibly damaging 0.59
R0646:Spon1 UTSW 7 113,639,056 (GRCm39) missense probably benign 0.04
R1194:Spon1 UTSW 7 113,486,031 (GRCm39) missense probably benign
R1832:Spon1 UTSW 7 113,616,018 (GRCm39) missense probably benign 0.26
R2391:Spon1 UTSW 7 113,486,080 (GRCm39) missense probably damaging 1.00
R3747:Spon1 UTSW 7 113,616,024 (GRCm39) missense possibly damaging 0.77
R3747:Spon1 UTSW 7 113,365,621 (GRCm39) missense probably damaging 0.98
R3749:Spon1 UTSW 7 113,616,024 (GRCm39) missense possibly damaging 0.77
R3749:Spon1 UTSW 7 113,365,621 (GRCm39) missense probably damaging 0.98
R3750:Spon1 UTSW 7 113,616,024 (GRCm39) missense possibly damaging 0.77
R3750:Spon1 UTSW 7 113,365,621 (GRCm39) missense probably damaging 0.98
R4666:Spon1 UTSW 7 113,628,204 (GRCm39) missense probably benign 0.20
R4730:Spon1 UTSW 7 113,632,306 (GRCm39) missense possibly damaging 0.92
R4774:Spon1 UTSW 7 113,639,102 (GRCm39) missense probably damaging 0.99
R5855:Spon1 UTSW 7 113,628,307 (GRCm39) missense probably damaging 0.99
R5870:Spon1 UTSW 7 113,631,021 (GRCm39) missense probably damaging 1.00
R5914:Spon1 UTSW 7 113,630,056 (GRCm39) missense probably damaging 1.00
R7138:Spon1 UTSW 7 113,635,945 (GRCm39) missense probably damaging 1.00
R7295:Spon1 UTSW 7 113,629,475 (GRCm39) missense possibly damaging 0.85
R7844:Spon1 UTSW 7 113,629,567 (GRCm39) missense probably benign 0.01
R8064:Spon1 UTSW 7 113,635,856 (GRCm39) missense probably damaging 1.00
R8075:Spon1 UTSW 7 113,616,026 (GRCm39) critical splice donor site probably null
R8927:Spon1 UTSW 7 113,629,592 (GRCm39) critical splice donor site probably null
R8928:Spon1 UTSW 7 113,629,592 (GRCm39) critical splice donor site probably null
R9278:Spon1 UTSW 7 113,628,188 (GRCm39) missense probably damaging 1.00
R9505:Spon1 UTSW 7 113,632,311 (GRCm39) missense probably damaging 0.98
R9711:Spon1 UTSW 7 113,387,685 (GRCm39) missense probably damaging 0.98
Z1088:Spon1 UTSW 7 113,365,623 (GRCm39) missense possibly damaging 0.83
Z1176:Spon1 UTSW 7 113,527,027 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATAGAACACCTCAGACTGGAG -3'
(R):5'- ACAGCTCAGCTAATGGATCCC -3'

Sequencing Primer
(F):5'- CCTCAGACTGGAGAATAAGAACTTTG -3'
(R):5'- GCTCAGCTAATGGATCCCATGATC -3'
Posted On 2018-06-06