Incidental Mutation 'R5914:Spon1'
ID 461198
Institutional Source Beutler Lab
Gene Symbol Spon1
Ensembl Gene ENSMUSG00000038156
Gene Name spondin 1, (f-spondin) extracellular matrix protein
Synonyms FSP, D330035F22Rik
MMRRC Submission 044111-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # R5914 (G1)
Quality Score 224
Status Validated
Chromosome 7
Chromosomal Location 113365235-113642605 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113630056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 428 (D428N)
Ref Sequence ENSEMBL: ENSMUSP00000041157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046687]
AlphaFold Q8VCC9
Predicted Effect probably damaging
Transcript: ENSMUST00000046687
AA Change: D428N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: D428N

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
Meta Mutation Damage Score 0.1928 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 95% (87/92)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,410,219 (GRCm39) R286H possibly damaging Het
Ank3 A T 10: 69,828,774 (GRCm39) probably benign Het
Arhgap24 G A 5: 102,700,025 (GRCm39) probably null Het
Arhgef2 T C 3: 88,543,176 (GRCm39) Y396H probably benign Het
Asap3 G T 4: 135,968,720 (GRCm39) G722C probably benign Het
Birc2 A C 9: 7,857,343 (GRCm39) *377E probably null Het
Cdc123 G T 2: 5,803,174 (GRCm39) Q282K possibly damaging Het
Cdkl4 C T 17: 80,855,120 (GRCm39) probably null Het
Cep97 T C 16: 55,725,820 (GRCm39) N689S probably benign Het
Cfap97 T G 8: 46,634,895 (GRCm39) S407A probably damaging Het
Cfh A T 1: 140,063,967 (GRCm39) N436K probably benign Het
Chpf2 A T 5: 24,797,421 (GRCm39) probably benign Het
Cnnm2 A G 19: 46,751,616 (GRCm39) T469A probably benign Het
Col6a3 T A 1: 90,703,922 (GRCm39) I2275F unknown Het
Ctdspl2 A T 2: 121,809,414 (GRCm39) N122Y probably damaging Het
Dcaf6 A T 1: 165,178,724 (GRCm39) C602S probably benign Het
Dda1 T A 8: 71,927,294 (GRCm39) probably benign Het
Dixdc1 T C 9: 50,609,888 (GRCm39) probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Emilin3 T A 2: 160,750,990 (GRCm39) N253I probably damaging Het
Epg5 T A 18: 78,002,847 (GRCm39) probably null Het
Fam204a A T 19: 60,209,525 (GRCm39) Y68* probably null Het
Fbln5 T G 12: 101,727,002 (GRCm39) D329A possibly damaging Het
Fkbp15 T A 4: 62,246,047 (GRCm39) probably null Het
Fnbp4 C G 2: 90,605,137 (GRCm39) probably benign Het
Foxn2 C A 17: 88,770,138 (GRCm39) probably null Het
Frem1 T C 4: 82,920,012 (GRCm39) D448G probably damaging Het
Fzd9 T C 5: 135,278,199 (GRCm39) Y562C probably benign Het
Gcn1 A G 5: 115,748,194 (GRCm39) silent Het
Gm6003 A G 7: 32,864,691 (GRCm39) noncoding transcript Het
Gnl3 C A 14: 30,738,853 (GRCm39) E65D possibly damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hk2 C T 6: 82,713,615 (GRCm39) R461K probably benign Het
Ice1 A G 13: 70,754,496 (GRCm39) F530S possibly damaging Het
Ing3 T A 6: 21,968,904 (GRCm39) S129T probably benign Het
Ino80 G A 2: 119,288,697 (GRCm39) S3L probably damaging Het
Ints2 T A 11: 86,113,000 (GRCm39) Q839H probably benign Het
Kcnrg T C 14: 61,849,280 (GRCm39) M247T probably benign Het
Kpna6 T C 4: 129,566,485 (GRCm39) probably benign Het
Krtap28-13 T A 1: 83,039,044 (GRCm39) probably benign Het
Lgr4 T A 2: 109,748,617 (GRCm39) V51E possibly damaging Het
Map3k5 A C 10: 19,980,001 (GRCm39) E836D probably benign Het
Mapk11 T C 15: 89,030,038 (GRCm39) I193V probably benign Het
Marchf10 A T 11: 105,276,308 (GRCm39) V660E probably damaging Het
Matn4 T C 2: 164,235,144 (GRCm39) E435G probably damaging Het
Mre11a G T 9: 14,723,232 (GRCm39) R402M probably damaging Het
Msr1 C T 8: 40,034,868 (GRCm39) G428R probably damaging Het
Ndufv3 C T 17: 31,750,206 (GRCm39) R99* probably null Het
Nkx6-1 C T 5: 101,811,847 (GRCm39) S85N unknown Het
Nop2 A T 6: 125,111,691 (GRCm39) E141D probably benign Het
Or5b3 A G 19: 13,388,326 (GRCm39) H131R probably benign Het
Or8b1 G C 9: 38,399,657 (GRCm39) E111Q probably damaging Het
Paox T C 7: 139,709,101 (GRCm39) S205P probably damaging Het
Pcdh15 T C 10: 74,466,768 (GRCm39) V995A probably benign Het
Pdcd1 T A 1: 93,968,550 (GRCm39) K161N probably benign Het
Pfkfb2 C A 1: 130,627,832 (GRCm39) V372L probably damaging Het
Phldb1 G A 9: 44,622,948 (GRCm39) T19I probably damaging Het
Pik3c2g G T 6: 139,599,477 (GRCm39) V198L probably benign Het
Pnpla8 T A 12: 44,342,753 (GRCm39) L41* probably null Het
Postn C T 3: 54,281,221 (GRCm39) Q449* probably null Het
Ppp1r3a C T 6: 14,718,988 (GRCm39) S642N probably benign Het
Ptpn23 G A 9: 110,214,511 (GRCm39) probably benign Het
Ptprj T C 2: 90,283,684 (GRCm39) N923S possibly damaging Het
Rai1 T C 11: 60,078,630 (GRCm39) V898A probably benign Het
Rasgef1a A T 6: 118,057,515 (GRCm39) Y72F possibly damaging Het
Serpinb7 T C 1: 107,379,580 (GRCm39) V329A probably damaging Het
Slc24a4 T A 12: 102,201,049 (GRCm39) I311N probably damaging Het
Slc45a1 C A 4: 150,713,997 (GRCm39) L749F possibly damaging Het
Tcf7l2 G A 19: 55,886,992 (GRCm39) E2K probably benign Het
Thoc5 A G 11: 4,870,416 (GRCm39) M472V possibly damaging Het
Tm6sf2 T C 8: 70,528,213 (GRCm39) Y121H probably damaging Het
Tmc4 T A 7: 3,675,008 (GRCm39) D221V probably benign Het
Trim30b A T 7: 104,006,572 (GRCm39) S95T probably damaging Het
Trip12 T C 1: 84,741,179 (GRCm39) E571G probably damaging Het
Ttn T C 2: 76,781,656 (GRCm39) probably null Het
Ubp1 A T 9: 113,785,807 (GRCm39) R161W probably benign Het
Usp21 G A 1: 171,109,745 (GRCm39) probably benign Het
Vmn1r61 T A 7: 5,613,529 (GRCm39) R262W probably damaging Het
Vmn2r67 A T 7: 84,801,044 (GRCm39) D297E probably damaging Het
Vwa5a T C 9: 38,653,038 (GRCm39) L784S probably benign Het
Vwc2 G A 11: 11,104,244 (GRCm39) V259M probably damaging Het
Zeb2 T C 2: 44,887,064 (GRCm39) I596M probably benign Het
Zgrf1 T A 3: 127,354,672 (GRCm39) L97H probably 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
R6523:Spon1 UTSW 7 113,486,018 (GRCm39) missense probably benign 0.00
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'- CCCATTTAAGGTGTAAATTTTGGCC -3'
(R):5'- ATCACTCCTTCACCAGGTGG -3'

Sequencing Primer
(F):5'- TGGCCCAGAAATCTGCCATTG -3'
(R):5'- CTTTTAGGGTGCTGGAGATAGAAACC -3'
Posted On 2017-02-28