Incidental Mutation 'IGL02043:Sp7'
ID 184824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sp7
Ensembl Gene ENSMUSG00000060284
Gene Name Sp7 transcription factor 7
Synonyms Osx, osterix, 6430578P22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02043
Quality Score
Status
Chromosome 15
Chromosomal Location 102265038-102275498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102267690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 39 (M39L)
Ref Sequence ENSEMBL: ENSMUSP00000154859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078508] [ENSMUST00000229464]
AlphaFold Q8VI67
Predicted Effect probably benign
Transcript: ENSMUST00000078508
AA Change: M57L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000077596
Gene: ENSMUSG00000060284
AA Change: M57L

DomainStartEndE-ValueType
low complexity region 70 84 N/A INTRINSIC
low complexity region 161 182 N/A INTRINSIC
low complexity region 247 266 N/A INTRINSIC
low complexity region 274 288 N/A INTRINSIC
ZnF_C2H2 291 315 7.05e-1 SMART
ZnF_C2H2 321 345 3.69e-4 SMART
ZnF_C2H2 351 373 1.1e-2 SMART
low complexity region 374 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229464
AA Change: M39L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229977
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a reporter allele die within minutes of birth displaying cyanosis, respiratory distress, arrested osteoblast differentiation, and failure of endochondral and intramembranous bone formation. Mice homozygous for a knock-out allele exhibit failure of bone ossification. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Sp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00869:Sp7 APN 15 102,267,086 (GRCm39) missense probably benign 0.04
IGL01412:Sp7 APN 15 102,267,798 (GRCm39) missense possibly damaging 0.66
IGL02341:Sp7 APN 15 102,267,657 (GRCm39) missense possibly damaging 0.66
R0126:Sp7 UTSW 15 102,266,895 (GRCm39) missense probably damaging 0.99
R1898:Sp7 UTSW 15 102,267,453 (GRCm39) missense possibly damaging 0.92
R4250:Sp7 UTSW 15 102,267,327 (GRCm39) missense possibly damaging 0.66
R4434:Sp7 UTSW 15 102,267,536 (GRCm39) missense probably damaging 0.97
R5472:Sp7 UTSW 15 102,267,749 (GRCm39) missense probably benign 0.15
R5563:Sp7 UTSW 15 102,267,755 (GRCm39) missense possibly damaging 0.90
R7532:Sp7 UTSW 15 102,267,584 (GRCm39) missense possibly damaging 0.53
R7815:Sp7 UTSW 15 102,274,822 (GRCm39) intron probably benign
R7840:Sp7 UTSW 15 102,267,533 (GRCm39) missense probably benign 0.40
R8493:Sp7 UTSW 15 102,266,837 (GRCm39) missense possibly damaging 0.93
R8821:Sp7 UTSW 15 102,267,227 (GRCm39) missense possibly damaging 0.53
R8962:Sp7 UTSW 15 102,274,880 (GRCm39) intron probably benign
Posted On 2014-05-07