Incidental Mutation 'IGL00869:Sp7'
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ID14190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sp7
Ensembl Gene ENSMUSG00000060284
Gene NameSp7 transcription factor 7
Synonyms6430578P22Rik, Osx, osterix
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00869
Quality Score
Status
Chromosome15
Chromosomal Location102356606-102367182 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 102358651 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 240 (A240E)
Ref Sequence ENSEMBL: ENSMUSP00000154859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078508] [ENSMUST00000229464]
Predicted Effect probably benign
Transcript: ENSMUST00000078508
AA Change: A258E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077596
Gene: ENSMUSG00000060284
AA Change: A258E

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: A240E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap11a T C 2: 113,834,826 T476A probably damaging Het
AW551984 A G 9: 39,593,434 probably benign Het
Gcn1l1 T A 5: 115,588,143 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Il1f6 A G 2: 24,216,580 T59A probably benign Het
Nrm A G 17: 35,864,755 H251R probably benign Het
Speer4b T C 5: 27,498,718 K141R probably damaging Het
Tmem132c C T 5: 127,563,242 H826Y possibly damaging Het
Other mutations in Sp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Sp7 APN 15 102359363 missense possibly damaging 0.66
IGL02043:Sp7 APN 15 102359255 missense probably benign 0.01
IGL02341:Sp7 APN 15 102359222 missense possibly damaging 0.66
R0126:Sp7 UTSW 15 102358460 missense probably damaging 0.99
R1898:Sp7 UTSW 15 102359018 missense possibly damaging 0.92
R4250:Sp7 UTSW 15 102358892 missense possibly damaging 0.66
R4434:Sp7 UTSW 15 102359101 missense probably damaging 0.97
R5472:Sp7 UTSW 15 102359314 missense probably benign 0.15
R5563:Sp7 UTSW 15 102359320 missense possibly damaging 0.90
R7532:Sp7 UTSW 15 102359149 missense possibly damaging 0.53
R7815:Sp7 UTSW 15 102366387 intron probably benign
R7840:Sp7 UTSW 15 102359098 missense probably benign 0.40
R7923:Sp7 UTSW 15 102359098 missense probably benign 0.40
Posted On2012-12-06