Incidental Mutation 'IGL02341:Sp7'
ID 289087
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 # IGL02341
Quality Score
Status
Chromosome 15
Chromosomal Location 102265038-102275498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102267657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 50 (T50S)
Ref Sequence ENSEMBL: ENSMUSP00000154859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078508] [ENSMUST00000229464]
AlphaFold Q8VI67
Predicted Effect possibly damaging
Transcript: ENSMUST00000078508
AA Change: T68S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077596
Gene: ENSMUSG00000060284
AA Change: T68S

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 possibly damaging
Transcript: ENSMUST00000229464
AA Change: T50S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 C T 15: 96,270,066 (GRCm39) S1393L probably benign Het
Bahcc1 T A 11: 120,163,346 (GRCm39) I548N probably damaging Het
Baiap3 A T 17: 25,467,290 (GRCm39) L405Q possibly damaging Het
Cacna1g T G 11: 94,352,978 (GRCm39) Q349P probably damaging Het
Ccdc30 T C 4: 119,213,978 (GRCm39) T184A possibly damaging Het
Ccdc63 A G 5: 122,251,261 (GRCm39) I383T probably benign Het
Ccnk A G 12: 108,161,989 (GRCm39) E298G unknown Het
Ccnt1 T C 15: 98,444,664 (GRCm39) E223G possibly damaging Het
Clcc1 T A 3: 108,580,699 (GRCm39) L333I possibly damaging Het
Cyp2b10 G A 7: 25,610,667 (GRCm39) R59Q probably benign Het
Cyp3a41b T A 5: 145,510,461 (GRCm39) T138S probably benign Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dnah8 A T 17: 30,966,231 (GRCm39) I2474F probably damaging Het
Dok1 T C 6: 83,010,035 (GRCm39) T25A probably damaging Het
Ears2 G A 7: 121,638,987 (GRCm39) A479V probably benign Het
Erc1 T A 6: 119,571,934 (GRCm39) I981F possibly damaging Het
Gm8730 A G 8: 103,591,775 (GRCm39) noncoding transcript Het
Gm9962 C T 7: 57,037,042 (GRCm39) probably benign Het
Has3 A T 8: 107,600,637 (GRCm39) Y33F probably damaging Het
Hk1 A G 10: 62,120,159 (GRCm39) S607P possibly damaging Het
Hlcs T A 16: 94,031,969 (GRCm39) I612F probably damaging Het
Llgl2 T A 11: 115,741,946 (GRCm39) S663T possibly damaging Het
Lrriq1 T C 10: 103,060,802 (GRCm39) H100R probably benign Het
Lypd8l T C 11: 58,503,656 (GRCm39) S17G possibly damaging Het
Magi2 T A 5: 20,671,201 (GRCm39) I678N probably damaging Het
Megf11 G A 9: 64,451,902 (GRCm39) G109S probably damaging Het
Morc2b A T 17: 33,356,281 (GRCm39) I497K probably damaging Het
Mybpc2 A C 7: 44,164,354 (GRCm39) S404A probably benign Het
Mylip A G 13: 45,544,752 (GRCm39) R59G probably damaging Het
Mylk3 A T 8: 86,078,601 (GRCm39) I501N probably damaging Het
Myo19 A G 11: 84,778,871 (GRCm39) probably benign Het
Nat2 A G 8: 67,954,370 (GRCm39) Y160C possibly damaging Het
Nf1 C T 11: 79,455,752 (GRCm39) A2554V probably benign Het
Niban3 A T 8: 72,056,443 (GRCm39) N381I possibly damaging Het
Ninl A T 2: 150,786,525 (GRCm39) C153* probably null Het
Nlrp5 C T 7: 23,103,577 (GRCm39) R15C probably benign Het
Nphp4 A T 4: 152,639,926 (GRCm39) probably benign Het
Obscn C A 11: 59,026,651 (GRCm39) R184L probably benign Het
Or6c202 T A 10: 128,996,302 (GRCm39) I184F probably benign Het
Or6c6c A T 10: 129,541,358 (GRCm39) T204S probably damaging Het
Or6c8 A T 10: 128,915,330 (GRCm39) C167* probably null Het
Phip A T 9: 82,814,936 (GRCm39) V262D probably damaging Het
Ptprg T A 14: 12,154,360 (GRCm38) S694T probably benign Het
Reck T A 4: 43,925,160 (GRCm39) D466E probably damaging Het
Rimbp2 G T 5: 128,878,025 (GRCm39) Y213* probably null Het
Scn2a C T 2: 65,518,721 (GRCm39) T365M probably damaging Het
Scpep1 T A 11: 88,835,314 (GRCm39) T120S probably benign Het
Tbc1d1 A G 5: 64,432,750 (GRCm39) R304G probably damaging Het
Tiam1 A G 16: 89,695,257 (GRCm39) S67P probably damaging Het
Tjp1 G A 7: 64,962,382 (GRCm39) T1185I probably damaging Het
Tspan2 T A 3: 102,672,529 (GRCm39) I178N probably damaging Het
Tusc2 T A 9: 107,442,109 (GRCm39) *103R probably null Het
Uggt1 A T 1: 36,203,600 (GRCm39) *47R probably null Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vcpip1 T A 1: 9,795,175 (GRCm39) K1065N possibly damaging Het
Zfp532 C A 18: 65,757,849 (GRCm39) P594Q probably damaging 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
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 2015-04-16