Incidental Mutation 'R5472:Sp7'
ID433893
Institutional Source Beutler Lab
Gene Symbol Sp7
Ensembl Gene ENSMUSG00000060284
Gene NameSp7 transcription factor 7
Synonyms6430578P22Rik, Osx, osterix
MMRRC Submission 043033-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5472 (G1)
Quality Score114
Status Not validated
Chromosome15
Chromosomal Location102356606-102367182 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 102359314 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 19 (T19I)
Ref Sequence ENSEMBL: ENSMUSP00000154859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078508] [ENSMUST00000229464]
Predicted Effect probably benign
Transcript: ENSMUST00000078508
AA Change: T37I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000077596
Gene: ENSMUSG00000060284
AA Change: T37I

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: T19I

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229977
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.3%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T C 14: 78,513,429 N506S probably benign Het
BC067074 A G 13: 113,319,169 D583G probably benign Het
Brinp3 A T 1: 146,901,459 H548L possibly damaging Het
Cacna1c A G 6: 118,638,446 V1328A possibly damaging Het
Carmil1 C T 13: 24,155,471 V47I probably damaging Het
Cdk2ap2 C A 19: 4,098,048 T76K probably benign Het
Col16a1 T C 4: 130,092,771 probably benign Het
Cxcr4 C A 1: 128,589,625 A100S probably damaging Het
Fancl G T 11: 26,469,677 C305F probably damaging Het
Gcnt2 T C 13: 40,953,579 V308A probably benign Het
Gm11733 A T 11: 117,484,496 I24L unknown Het
Gm765 A T 6: 98,238,276 C129S probably damaging Het
Gm973 A G 1: 59,628,287 probably null Het
Gm996 T C 2: 25,579,702 T66A probably benign Het
Heatr5b A T 17: 78,801,660 F1057I probably damaging Het
Ifi213 A T 1: 173,567,272 probably null Het
Ighv1-20 A T 12: 114,723,851 V91E probably damaging Het
Inhba A G 13: 16,026,786 E311G probably damaging Het
Irx3 G T 8: 91,799,480 probably null Het
Jag1 C A 2: 137,084,995 C948F probably damaging Het
Kcna2 T C 3: 107,105,309 I402T possibly damaging Het
Kcnh8 A T 17: 52,977,816 Q938L possibly damaging Het
Lrsam1 ACC AC 2: 32,945,858 probably null Het
Macf1 T C 4: 123,450,061 T2123A probably benign Het
Mdh1 A T 11: 21,559,786 N196K probably benign Het
Msh6 G A 17: 87,984,561 R248Q possibly damaging Het
Odf2l G T 3: 145,146,866 R457L probably benign Het
Olfr822 A T 10: 130,075,029 L206F probably damaging Het
Pphln1 T C 15: 93,488,975 V318A possibly damaging Het
Ppp1r12a C T 10: 108,240,112 T267I probably damaging Het
Pramef20 T C 4: 144,377,157 D133G probably benign Het
Prpf8 A C 11: 75,503,643 K1801N possibly damaging Het
Raf1 A G 6: 115,626,706 probably null Het
Rasal3 C A 17: 32,396,669 L374F probably damaging Het
S1pr3 T A 13: 51,419,647 V288D probably damaging Het
Setd7 G A 3: 51,521,465 P315S probably benign Het
Slx4 C T 16: 3,991,540 A364T probably benign Het
Tlr9 T A 9: 106,224,313 C268S probably damaging Het
Tmem117 T A 15: 95,094,513 D351E possibly damaging Het
Tmem45b T A 9: 31,428,044 D211V possibly damaging Het
Tns3 A G 11: 8,451,092 S1069P probably benign Het
Tsnax A G 8: 125,015,762 I77V probably benign Het
Txndc5 G A 13: 38,513,125 L79F possibly damaging Het
Ube2q1 A G 3: 89,777,241 E14G probably benign Het
Vmn2r28 C T 7: 5,487,944 probably null Het
Vwde A T 6: 13,193,118 D407E probably benign Het
Wdr35 T A 12: 9,016,619 M749K probably benign Het
Zfp109 A T 7: 24,228,621 C462* probably null Het
Other mutations in Sp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00869:Sp7 APN 15 102358651 missense probably benign 0.04
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
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
Predicted Primers PCR Primer
(F):5'- TGTAGACACTAGGCAGGCAG -3'
(R):5'- GTCTCAGACCTATAGCTATGCCC -3'

Sequencing Primer
(F):5'- CACTAGGCAGGCAGTCAGAC -3'
(R):5'- AAGCTCACTATGGCTCCA -3'
Posted On2016-10-06