Incidental Mutation 'R1832:Spon1'
ID 204871
Institutional Source Beutler Lab
Gene Symbol Spon1
Ensembl Gene ENSMUSG00000038156
Gene Name spondin 1, (f-spondin) extracellular matrix protein
Synonyms FSP, D330035F22Rik
MMRRC Submission 039859-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # R1832 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 113365235-113642605 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113616018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 295 (V295D)
Ref Sequence ENSEMBL: ENSMUSP00000041157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046687]
AlphaFold Q8VCC9
Predicted Effect probably benign
Transcript: ENSMUST00000046687
AA Change: V295D

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: V295D

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 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.7%
Validation Efficiency 100% (82/82)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
Abca8a A T 11: 109,962,277 (GRCm39) N525K probably damaging Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adamts20 A T 15: 94,184,225 (GRCm39) M1526K probably benign Het
Ankdd1a A T 9: 65,411,771 (GRCm39) probably null Het
Ankrd1 C T 19: 36,092,378 (GRCm39) C283Y possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Bhlhe22 G A 3: 18,109,139 (GRCm39) C63Y probably damaging Het
Bmp8a A T 4: 123,218,885 (GRCm39) probably benign Het
Ccdc148 A T 2: 58,891,911 (GRCm39) S235T probably damaging Het
Ccdc88b G A 19: 6,830,900 (GRCm39) Q681* probably null Het
Cep104 T A 4: 154,087,003 (GRCm39) V842E probably benign Het
Chac2 T C 11: 30,927,568 (GRCm39) N117S probably benign Het
Cimap3 C T 3: 105,921,912 (GRCm39) E4K possibly damaging Het
Cldn8 T A 16: 88,359,746 (GRCm39) I60F probably benign Het
Col16a1 G A 4: 129,970,850 (GRCm39) probably null Het
Col4a1 A G 8: 11,264,644 (GRCm39) probably benign Het
Cyp2a4 G T 7: 26,011,635 (GRCm39) E285D probably damaging Het
Cyp4a31 G A 4: 115,426,928 (GRCm39) G176D probably benign Het
Dmxl2 A C 9: 54,368,233 (GRCm39) Y246D probably damaging Het
Dync1h1 A G 12: 110,580,493 (GRCm39) K118R probably damaging Het
Dync2i1 T A 12: 116,171,363 (GRCm39) S958C probably damaging Het
Eif3h T C 15: 51,728,832 (GRCm39) T8A possibly damaging Het
Fbh1 G T 2: 11,772,211 (GRCm39) L157I probably benign Het
Fbxo40 C A 16: 36,789,218 (GRCm39) G631* probably null Het
Gabrb1 T A 5: 72,279,281 (GRCm39) probably null Het
Galc A G 12: 98,200,499 (GRCm39) probably null Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Igkv13-54-1 A T 6: 69,594,277 (GRCm39) M31L probably benign Het
Lamc2 C T 1: 153,041,933 (GRCm39) R67Q possibly damaging Het
Lcn10 A G 2: 25,575,151 (GRCm39) D173G probably damaging Het
Llgl2 G T 11: 115,741,926 (GRCm39) R656L probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Ly6d T C 15: 74,634,615 (GRCm39) K46E probably damaging Het
Map3k5 A G 10: 19,975,306 (GRCm39) N88D probably damaging Het
Mertk A T 2: 128,604,132 (GRCm39) E422V probably benign Het
Mixl1 A G 1: 180,522,296 (GRCm39) V195A probably benign Het
Nmnat3 T C 9: 98,281,521 (GRCm39) V41A probably damaging Het
Or1r1 A T 11: 73,875,319 (GRCm39) N38K probably damaging Het
Or2a7 A G 6: 43,151,834 (GRCm39) R305G probably benign Het
Or7g34 A G 9: 19,478,492 (GRCm39) Y63H possibly damaging Het
Pappa2 T A 1: 158,684,886 (GRCm39) E751V probably damaging Het
Pcsk2 A G 2: 143,635,189 (GRCm39) S355G probably damaging Het
Pdzd2 A G 15: 12,390,134 (GRCm39) V821A probably damaging Het
Plxna4 A C 6: 32,174,761 (GRCm39) D1109E probably benign Het
Ppard A G 17: 28,516,084 (GRCm39) M103V probably benign Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Ralgapa1 T C 12: 55,804,752 (GRCm39) T515A probably benign Het
Rin2 A G 2: 145,703,091 (GRCm39) I596V possibly damaging Het
Rnls A G 19: 33,145,895 (GRCm39) S75P possibly damaging Het
Rsph10b A T 5: 143,903,997 (GRCm39) Y236F possibly damaging Het
Runx1t1 C T 4: 13,835,628 (GRCm39) probably benign Het
Sardh A G 2: 27,125,581 (GRCm39) V311A possibly damaging Het
Sbno2 G T 10: 79,896,439 (GRCm39) Y889* probably null Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4g T A 19: 44,987,456 (GRCm39) V534E probably benign Het
Shoc1 T G 4: 59,066,441 (GRCm39) I768L probably benign Het
Slc10a1 G A 12: 81,000,446 (GRCm39) S351F probably benign Het
Slc19a3 A T 1: 83,000,468 (GRCm39) V183E probably damaging Het
Slc25a12 A G 2: 71,164,054 (GRCm39) Y74H possibly damaging Het
Slc6a19 T A 13: 73,841,069 (GRCm39) I114L probably benign Het
Smpd2 A T 10: 41,364,232 (GRCm39) C189S probably benign Het
Tet3 A G 6: 83,380,627 (GRCm39) S514P probably benign Het
Tnk1 T C 11: 69,747,754 (GRCm39) I49M probably damaging Het
Trim80 A G 11: 115,337,619 (GRCm39) T431A probably benign Het
Vgf A T 5: 137,060,153 (GRCm39) Q105L possibly damaging Het
Vmn1r37 G T 6: 66,708,780 (GRCm39) L135F probably benign Het
Vps37d C T 5: 135,102,594 (GRCm39) A128T possibly damaging Het
Wwp1 T C 4: 19,650,197 (GRCm39) D323G probably benign Het
Zfp456 T A 13: 67,515,482 (GRCm39) I75L probably benign Het
Zfp990 A G 4: 145,264,780 (GRCm39) I593V 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
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
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'- AGTGGGATTATCCATAGCCAGAC -3'
(R):5'- AAGACAAGGTTTCCCACATGG -3'

Sequencing Primer
(F):5'- ACCTCCTAGTGTAGCTGGCATG -3'
(R):5'- ACATGGGCAATACTTCCTTGG -3'
Posted On 2014-06-23