Incidental Mutation 'R5472:Sp7'
ID 433893
Institutional Source Beutler Lab
Gene Symbol Sp7
Ensembl Gene ENSMUSG00000060284
Gene Name Sp7 transcription factor 7
Synonyms Osx, osterix, 6430578P22Rik
MMRRC Submission 043033-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5472 (G1)
Quality Score 114
Status Not validated
Chromosome 15
Chromosomal Location 102265038-102275498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102267749 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8VI67
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
Ajm1 T C 2: 25,469,714 (GRCm39) T66A probably benign Het
Akap11 T C 14: 78,750,869 (GRCm39) N506S probably benign Het
Brinp3 A T 1: 146,777,197 (GRCm39) H548L possibly damaging Het
Cacna1c A G 6: 118,615,407 (GRCm39) V1328A possibly damaging Het
Carmil1 C T 13: 24,339,454 (GRCm39) V47I probably damaging Het
Cdk2ap2 C A 19: 4,148,048 (GRCm39) T76K probably benign Het
Col16a1 T C 4: 129,986,564 (GRCm39) probably benign Het
Cspg4b A G 13: 113,455,703 (GRCm39) D583G probably benign Het
Cxcr4 C A 1: 128,517,362 (GRCm39) A100S probably damaging Het
Fancl G T 11: 26,419,677 (GRCm39) C305F probably damaging Het
Gcnt2 T C 13: 41,107,055 (GRCm39) V308A probably benign Het
Gm11733 A T 11: 117,375,322 (GRCm39) I24L unknown Het
Gm973 A G 1: 59,667,446 (GRCm39) probably null Het
Heatr5b A T 17: 79,109,089 (GRCm39) F1057I probably damaging Het
Ifi213 A T 1: 173,394,838 (GRCm39) probably null Het
Ighv1-20 A T 12: 114,687,471 (GRCm39) V91E probably damaging Het
Inhba A G 13: 16,201,371 (GRCm39) E311G probably damaging Het
Irx3 G T 8: 92,526,108 (GRCm39) probably null Het
Jag1 C A 2: 136,926,915 (GRCm39) C948F probably damaging Het
Kcna2 T C 3: 107,012,625 (GRCm39) I402T possibly damaging Het
Kcnh8 A T 17: 53,284,844 (GRCm39) Q938L possibly damaging Het
Lrsam1 ACC AC 2: 32,835,870 (GRCm39) probably null Het
Macf1 T C 4: 123,343,854 (GRCm39) T2123A probably benign Het
Mdfic2 A T 6: 98,215,237 (GRCm39) C129S probably damaging Het
Mdh1 A T 11: 21,509,786 (GRCm39) N196K probably benign Het
Msh6 G A 17: 88,291,989 (GRCm39) R248Q possibly damaging Het
Odf2l G T 3: 144,852,627 (GRCm39) R457L probably benign Het
Or6c69c A T 10: 129,910,898 (GRCm39) L206F probably damaging Het
Pphln1 T C 15: 93,386,856 (GRCm39) V318A possibly damaging Het
Ppp1r12a C T 10: 108,075,973 (GRCm39) T267I probably damaging Het
Pramel15 T C 4: 144,103,727 (GRCm39) D133G probably benign Het
Prpf8 A C 11: 75,394,469 (GRCm39) K1801N possibly damaging Het
Raf1 A G 6: 115,603,667 (GRCm39) probably null Het
Rasal3 C A 17: 32,615,643 (GRCm39) L374F probably damaging Het
S1pr3 T A 13: 51,573,683 (GRCm39) V288D probably damaging Het
Setd7 G A 3: 51,428,886 (GRCm39) P315S probably benign Het
Slx4 C T 16: 3,809,404 (GRCm39) A364T probably benign Het
Tlr9 T A 9: 106,101,512 (GRCm39) C268S probably damaging Het
Tmem117 T A 15: 94,992,394 (GRCm39) D351E possibly damaging Het
Tmem45b T A 9: 31,339,340 (GRCm39) D211V possibly damaging Het
Tns3 A G 11: 8,401,092 (GRCm39) S1069P probably benign Het
Tsnax A G 8: 125,742,501 (GRCm39) I77V probably benign Het
Txndc5 G A 13: 38,697,101 (GRCm39) L79F possibly damaging Het
Ube2q1 A G 3: 89,684,548 (GRCm39) E14G probably benign Het
Vmn2r28 C T 7: 5,490,943 (GRCm39) probably null Het
Vwde A T 6: 13,193,117 (GRCm39) D407E probably benign Het
Wdr35 T A 12: 9,066,619 (GRCm39) M749K probably benign Het
Zfp109 A T 7: 23,928,046 (GRCm39) C462* probably null 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
IGL02043:Sp7 APN 15 102,267,690 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TGTAGACACTAGGCAGGCAG -3'
(R):5'- GTCTCAGACCTATAGCTATGCCC -3'

Sequencing Primer
(F):5'- CACTAGGCAGGCAGTCAGAC -3'
(R):5'- AAGCTCACTATGGCTCCA -3'
Posted On 2016-10-06