Incidental Mutation 'R0758:Sp1'
ID 262263
Institutional Source Beutler Lab
Gene Symbol Sp1
Ensembl Gene ENSMUSG00000001280
Gene Name trans-acting transcription factor 1
Synonyms Sp1-1, 1110003E12Rik
MMRRC Submission 038938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0758 (G1)
Quality Score 96
Status Not validated
Chromosome 15
Chromosomal Location 102314751-102344839 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 102314805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001326] [ENSMUST00000001326] [ENSMUST00000001326] [ENSMUST00000163709] [ENSMUST00000165837] [ENSMUST00000165924] [ENSMUST00000168802] [ENSMUST00000169619] [ENSMUST00000170884]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000001326
SMART Domains Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 37 62 N/A INTRINSIC
low complexity region 74 90 N/A INTRINSIC
low complexity region 279 296 N/A INTRINSIC
low complexity region 300 333 N/A INTRINSIC
low complexity region 341 354 N/A INTRINSIC
low complexity region 370 422 N/A INTRINSIC
low complexity region 464 480 N/A INTRINSIC
ZnF_C2H2 624 648 4.34e0 SMART
ZnF_C2H2 654 678 1.98e-4 SMART
ZnF_C2H2 684 706 1.12e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000001326
SMART Domains Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 37 62 N/A INTRINSIC
low complexity region 74 90 N/A INTRINSIC
low complexity region 279 296 N/A INTRINSIC
low complexity region 300 333 N/A INTRINSIC
low complexity region 341 354 N/A INTRINSIC
low complexity region 370 422 N/A INTRINSIC
low complexity region 464 480 N/A INTRINSIC
ZnF_C2H2 624 648 4.34e0 SMART
ZnF_C2H2 654 678 1.98e-4 SMART
ZnF_C2H2 684 706 1.12e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000001326
SMART Domains Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 37 62 N/A INTRINSIC
low complexity region 74 90 N/A INTRINSIC
low complexity region 279 296 N/A INTRINSIC
low complexity region 300 333 N/A INTRINSIC
low complexity region 341 354 N/A INTRINSIC
low complexity region 370 422 N/A INTRINSIC
low complexity region 464 480 N/A INTRINSIC
ZnF_C2H2 624 648 4.34e0 SMART
ZnF_C2H2 654 678 1.98e-4 SMART
ZnF_C2H2 684 706 1.12e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000163709
SMART Domains Protein: ENSMUSP00000130747
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 37 108 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
ZnF_C2H2 310 334 4.34e0 SMART
ZnF_C2H2 340 364 1.98e-4 SMART
ZnF_C2H2 370 392 1.12e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000165837
SMART Domains Protein: ENSMUSP00000126143
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 30 55 N/A INTRINSIC
low complexity region 67 83 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000165924
SMART Domains Protein: ENSMUSP00000132401
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 37 62 N/A INTRINSIC
low complexity region 74 90 N/A INTRINSIC
low complexity region 279 296 N/A INTRINSIC
low complexity region 300 333 N/A INTRINSIC
low complexity region 341 354 N/A INTRINSIC
low complexity region 370 422 N/A INTRINSIC
low complexity region 464 480 N/A INTRINSIC
ZnF_C2H2 624 648 4.34e0 SMART
ZnF_C2H2 654 678 1.98e-4 SMART
ZnF_C2H2 684 706 1.12e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000168802
SMART Domains Protein: ENSMUSP00000127445
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 30 55 N/A INTRINSIC
low complexity region 67 83 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169619
SMART Domains Protein: ENSMUSP00000127714
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 30 55 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170884
SMART Domains Protein: ENSMUSP00000129638
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 30 55 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous null mice display reduced embryo size and die during organogenesis with a broad range of developmental defects. Heterozygous null mice are viable but slightly growth retarded, may lack one or both eyes, and show a decreased erythroid progenitor cell number in fetal liver cultures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 4 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Patz1 G A 11: 3,240,879 (GRCm39) G89D probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Other mutations in Sp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Sp1 APN 15 102,339,364 (GRCm39) missense probably damaging 1.00
PIT4812001:Sp1 UTSW 15 102,316,843 (GRCm39) missense possibly damaging 0.53
R1509:Sp1 UTSW 15 102,316,314 (GRCm39) missense possibly damaging 0.66
R1611:Sp1 UTSW 15 102,339,370 (GRCm39) missense probably damaging 0.99
R1820:Sp1 UTSW 15 102,317,511 (GRCm39) missense possibly damaging 0.73
R1824:Sp1 UTSW 15 102,339,438 (GRCm39) missense possibly damaging 0.70
R2107:Sp1 UTSW 15 102,318,113 (GRCm39) splice site probably null
R4508:Sp1 UTSW 15 102,317,747 (GRCm39) missense possibly damaging 0.53
R4857:Sp1 UTSW 15 102,339,409 (GRCm39) missense probably damaging 0.99
R5512:Sp1 UTSW 15 102,339,445 (GRCm39) missense possibly damaging 0.91
R5559:Sp1 UTSW 15 102,317,365 (GRCm39) missense probably benign 0.18
R5833:Sp1 UTSW 15 102,339,352 (GRCm39) missense possibly damaging 0.92
R6377:Sp1 UTSW 15 102,339,318 (GRCm39) missense probably benign 0.13
R8059:Sp1 UTSW 15 102,316,337 (GRCm39) missense possibly damaging 0.73
R8434:Sp1 UTSW 15 102,318,118 (GRCm39) missense probably benign 0.00
R8537:Sp1 UTSW 15 102,316,964 (GRCm39) missense possibly damaging 0.86
R9038:Sp1 UTSW 15 102,316,320 (GRCm39) missense probably benign 0.18
X0050:Sp1 UTSW 15 102,317,846 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2015-02-04