Incidental Mutation 'IGL02562:Spon1'
ID 298713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spon1
Ensembl Gene ENSMUSG00000038156
Gene Name spondin 1, (f-spondin) extracellular matrix protein
Synonyms FSP, D330035F22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.239) question?
Stock # IGL02562
Quality Score
Status
Chromosome 7
Chromosomal Location 113765998-114043370 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114036761 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 737 (S737G)
Ref Sequence ENSEMBL: ENSMUSP00000041157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046687]
AlphaFold Q8VCC9
Predicted Effect probably benign
Transcript: ENSMUST00000046687
AA Change: S737G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: S737G

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
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,439,312 C33R probably damaging Het
Aifm3 A G 16: 17,506,262 N562S probably benign Het
Akap14 G A X: 37,163,788 T98M possibly damaging Het
Atp7b T G 8: 22,028,085 T234P probably benign Het
Atp8b1 T A 18: 64,581,986 Q65L probably benign Het
Bclaf3 T C X: 159,566,438 S600P probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col4a5 A G X: 141,656,675 probably benign Het
Gigyf2 A G 1: 87,407,375 D120G probably benign Het
Gm20498 T C 12: 81,510,842 D63G probably damaging Het
Gm4953 A T 1: 159,168,507 noncoding transcript Het
Hip1r G T 5: 123,991,523 probably benign Het
Itga2 A G 13: 114,836,570 probably benign Het
Itga3 T C 11: 95,068,793 T85A probably benign Het
Loxl1 A G 9: 58,288,916 S607P probably damaging Het
March2 G A 17: 33,696,074 T182I probably damaging Het
Mbd1 T C 18: 74,276,922 S386P probably benign Het
Meis2 C A 2: 116,049,146 G231V probably damaging Het
Mum1 A G 10: 80,238,895 D438G probably damaging Het
Myo1h A G 5: 114,357,992 K774E probably benign Het
Olfr1044 T G 2: 86,171,040 Y259S probably damaging Het
Olfr167 A T 16: 19,514,964 I224N possibly damaging Het
Olfr385 T C 11: 73,589,411 N109S probably benign Het
Olfr610 G T 7: 103,506,216 C243* probably null Het
Olfr714 C A 7: 107,074,562 H245N probably benign Het
Pcm1 T A 8: 41,325,368 D1813E probably damaging Het
Pdcl2 A G 5: 76,319,191 Y52H probably damaging Het
Piezo1 T C 8: 122,496,763 T816A probably benign Het
Ptpn13 T G 5: 103,562,291 L1564R probably damaging Het
Slc7a2 T A 8: 40,915,020 M607K probably damaging Het
Snrpa T A 7: 27,191,698 K116M probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sspo A G 6: 48,490,122 probably null Het
Tubb4a C A 17: 57,081,163 E288* probably null Het
Vmn2r87 A T 10: 130,478,644 C358S probably damaging Het
Other mutations in Spon1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Spon1 APN 7 114034290 missense probably damaging 1.00
IGL02385:Spon1 APN 7 113766330 start codon destroyed probably null 0.56
IGL02496:Spon1 APN 7 114036662 missense probably benign 0.00
IGL03063:Spon1 APN 7 114033025 missense possibly damaging 0.85
IGL03153:Spon1 APN 7 114030344 missense probably damaging 1.00
IGL03392:Spon1 APN 7 114034287 missense probably damaging 0.99
Rust UTSW 7 114016791 missense possibly damaging 0.77
Wilt UTSW 7 113766384 missense probably damaging 0.98
R0512:Spon1 UTSW 7 113836833 missense possibly damaging 0.59
R0646:Spon1 UTSW 7 114039821 missense probably benign 0.04
R1194:Spon1 UTSW 7 113886798 missense probably benign
R1832:Spon1 UTSW 7 114016785 missense probably benign 0.26
R2391:Spon1 UTSW 7 113886847 missense probably damaging 1.00
R3747:Spon1 UTSW 7 113766384 missense probably damaging 0.98
R3747:Spon1 UTSW 7 114016791 missense possibly damaging 0.77
R3749:Spon1 UTSW 7 113766384 missense probably damaging 0.98
R3749:Spon1 UTSW 7 114016791 missense possibly damaging 0.77
R3750:Spon1 UTSW 7 113766384 missense probably damaging 0.98
R3750:Spon1 UTSW 7 114016791 missense possibly damaging 0.77
R4666:Spon1 UTSW 7 114028969 missense probably benign 0.20
R4730:Spon1 UTSW 7 114033071 missense possibly damaging 0.92
R4774:Spon1 UTSW 7 114039867 missense probably damaging 0.99
R5855:Spon1 UTSW 7 114029072 missense probably damaging 0.99
R5870:Spon1 UTSW 7 114031786 missense probably damaging 1.00
R5914:Spon1 UTSW 7 114030821 missense probably damaging 1.00
R6523:Spon1 UTSW 7 113886785 missense probably benign 0.00
R7138:Spon1 UTSW 7 114036710 missense probably damaging 1.00
R7295:Spon1 UTSW 7 114030240 missense possibly damaging 0.85
R7844:Spon1 UTSW 7 114030332 missense probably benign 0.01
R8064:Spon1 UTSW 7 114036621 missense probably damaging 1.00
R8075:Spon1 UTSW 7 114016793 critical splice donor site probably null
R8927:Spon1 UTSW 7 114030357 critical splice donor site probably null
R8928:Spon1 UTSW 7 114030357 critical splice donor site probably null
R9278:Spon1 UTSW 7 114028953 missense probably damaging 1.00
Z1088:Spon1 UTSW 7 113766386 missense possibly damaging 0.83
Z1176:Spon1 UTSW 7 113927794 missense probably damaging 1.00
Posted On 2015-04-16