Incidental Mutation 'IGL02385:Spon1'
ID 291494
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 # IGL02385
Quality Score
Status
Chromosome 7
Chromosomal Location 113765998-114043370 bp(+) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to G at 113766330 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1 (M1R)
Ref Sequence ENSEMBL: ENSMUSP00000081746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046687] [ENSMUST00000084696]
AlphaFold Q8VCC9
Predicted Effect probably null
Transcript: ENSMUST00000046687
AA Change: M1R

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: M1R

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 null
Transcript: ENSMUST00000084696
AA Change: M1R

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000081746
Gene: ENSMUSG00000038156
AA Change: M1R

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,154,856 D351E probably damaging Het
4930452B06Rik A G 14: 8,510,920 V498A possibly damaging Het
Adad2 A G 8: 119,615,034 probably benign Het
Adamts8 A G 9: 30,961,730 N744D probably benign Het
Atad5 C T 11: 80,094,627 T180I probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bcl9 A T 3: 97,209,278 I700K probably benign Het
Bcr T C 10: 75,145,403 S685P probably damaging Het
Cd36 A G 5: 17,814,719 V128A probably benign Het
Chd2 T C 7: 73,435,822 Y1688C probably damaging Het
Csmd1 A G 8: 15,903,275 V3402A probably benign Het
Dsg3 T C 18: 20,527,714 V370A probably damaging Het
Dus4l A G 12: 31,640,675 probably benign Het
Fcrlb A G 1: 170,907,599 S320P probably damaging Het
Fer1l4 T C 2: 156,045,428 D616G probably benign Het
Fxr2 C T 11: 69,652,269 R631C possibly damaging Het
Gltpd2 T A 11: 70,519,996 F152I probably damaging Het
Gpt2 T A 8: 85,516,153 probably null Het
Hsd3b6 A T 3: 98,806,572 I137K possibly damaging Het
Kcna6 A G 6: 126,738,954 V324A probably benign Het
Kcnu1 C T 8: 25,932,270 L188F probably damaging Het
Kdm1b A G 13: 47,068,506 I474V possibly damaging Het
Kifap3 C T 1: 163,865,444 Q602* probably null Het
Lrp4 T A 2: 91,474,720 C231S possibly damaging Het
Lrrc63 T C 14: 75,086,200 D528G probably benign Het
Nosip C A 7: 45,076,732 R240S possibly damaging Het
Olfr1287 A G 2: 111,449,350 D70G probably damaging Het
Olfr1308 G A 2: 111,960,258 P272S probably benign Het
Olfr742 T C 14: 50,515,443 S80P probably damaging Het
Orc5 A T 5: 22,526,440 D231E probably damaging Het
Poli A T 18: 70,526,574 M62K possibly damaging Het
Ppp1r13b A C 12: 111,835,043 S402R probably damaging Het
Prl3b1 T C 13: 27,249,383 S174P possibly damaging Het
Ptpra T C 2: 130,540,473 probably benign Het
Sfpq T A 4: 127,026,136 probably null Het
Sh3bp1 T A 15: 78,905,888 probably benign Het
Slc7a2 T G 8: 40,899,011 V37G probably damaging Het
Smc1a A T X: 152,037,659 E794D possibly damaging Het
Sox6 T C 7: 115,550,039 R366G possibly damaging Het
Spaca7 A G 8: 12,586,498 N108S possibly damaging Het
Sult6b2 T C 6: 142,801,772 R84G probably benign Het
Syt2 A G 1: 134,745,815 N299S probably benign Het
Syvn1 T C 19: 6,048,540 V104A probably damaging Het
Tbpl1 A G 10: 22,707,669 L134P probably damaging Het
Tex11 A T X: 100,876,529 probably benign Het
Tnfrsf21 A G 17: 43,040,051 S369G probably damaging Het
Tram1l1 T C 3: 124,322,058 V289A probably benign Het
Ttyh3 A T 5: 140,633,305 F277L probably benign Het
Vmn2r17 T G 5: 109,434,381 N545K probably damaging Het
Wdr20 A T 12: 110,793,223 H181L probably benign Het
Zscan20 A G 4: 128,604,599 M2T possibly damaging Het
Other mutations in Spon1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Spon1 APN 7 114034290 missense probably damaging 1.00
IGL02496:Spon1 APN 7 114036662 missense probably benign 0.00
IGL02562:Spon1 APN 7 114036761 missense probably benign 0.12
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